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- DSM-IV: A “spectrum” with 3 domains
- Atypical social interaction:
- Poor eye contact or use of gestures
- Acting unaware of others
- Little sharing of interests
- Failure to develop appropriate peer relationships
- Absent or unusual language:
- Lack of language or severe delay.
- Echolalia, scripting, and nonsensical language.
- Older children: unable to truly converse; may go on and on about a subject.
- No imaginative play
- Repetition and rigidity:
- Repetitive mannerisms: flicking fingers, spinning, rocking.
- Unusual preoccupation with objects: spinning, smelling, parts of objects,
- Insistence on “sameness”-- following familiar routines
- Older kids: strong interests in particular topics, excellent memory for details
- High functioning autism
- Social: Challenges with empathy, reading others’ emotions
- Language: One-sided conversation: may go on and on about favorite topic; “Little Professor”
- Strong, focused interests
- May not appear in DSM-V
- “Pervasive Developmental Disorder-- Not otherwise specified”
- Refers to children with features of autism yet not fulfilling all the DSM-IV criteria
- A very problematic category, to say the least
- May contribute to the apparent rise of autism
Autism Prevalence greatly increasing
- Estimated as very rare in 1960-70ss: 2-3 per 10,000
- Great increase in 1990s
- Systematic surveillance by the CDC’s Autism and Developmental Disabilities (ADDM) monitoring network over past 10 years
- 2002 (Birth year 1994): 1/150
- 2006 (Birth year 1998): 1/110
Factors in the Rise of Autism
- Definition: increasing recognition of “spectrum” since the 1980s
- Diagnostic substitution: re-labeling of MR (a more “hopeful” diagnosis?)
- Recognition: much more awareness, active screening programs
- Services: Autism recognized as disability in 1991 in schools
Autism MMR Hypothesis:
- MMR Controversy: 1997 Lancet case series by Andrew Wakefield describing “autistic enterocolitis” after MMR
- 12 subsequent studies failed to confirm link between MMR vaccine and autism
Autism Mercury Hypothesis: Thimerosal
- Preservative containing (small!) amount mercury used since 1930s
- Exposure rose with new vaccines in 1990s
- In 1999, AAP and CDC recommended precautionary removal from all vaccines as part of broader public health efforts to reduce mercury exposure in infants and pregnant women but announcement just came as California study raised national awareness of autism “epidemic”
- Removed from all routine vaccines (except for some influenza vaccines) by 2003
- Autism rates have continued to climb
Can multiple vaccines trigger autism?
- Hannah Poling: a girl awarded by vaccine court in 2004, who developed fever and autistic regression following five vaccines in second year of life
- Shown to have a mitochondrial disorder
- Such children may be vulnerable to any stress-- from vaccines or fevers
- Rare, though tragic
Autism Bottom Line
- Expansion of definition and improved recognition likely explain much of the increase in the prevalence of autism
- But, it is still possible that there has also been a real increase
- An unidentified environmental factor may be involved
- Vaccines, however, are very unlikely to have contributed to the rise in prevalence
Common Comorbidities Associated With Autism
- mental retardation (in up to 80%)
- seizure disorder (in 25% and usually beginning in adolescence)
- anxiety disorders, OCD, and attention-deficit/hyperactivity disorder.
- Higher IQ and better language skills are related to improved prognosis.
- Good communication predicts the likelihood of living in less structured group living situations or even independently.
- Six or more items from (1), (2), and (3), with at least two from (1) and one each from (2) and (3)
- 1. Qualitative impairment in social interaction, as manifested by at least two of the following:
- A.Marked impairment in the use of multiple nonverbal behaviors, such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
- B.Failure to develop peer relationships appropriate to developmental level
- C.A lack of spontaneously seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest)
- D.Lack of social or emotional reciprocity
- 2.Qualitative impairments in communication as manifested by at least one of the following:
- A.Delay in, or total lack of, the development of spoken language (not accompanied by attempts to compensate through alternative modes of communication, such as gesture or mime)
- B.In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
- C.Stereotyped and repetitive use of language or idiosyncratic language
- D.Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level
- 3.Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
- A.Encompassing preoccupation with stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
- B.Apparently inflexible adherence to specific, nonfunctional routines or rituals
- C.Stereotyped and repetitive motor mannerisms (e.g., hand- or finger-flapping or twisting or complex whole body movements)
- D.Persistent preoccupation with parts of objects
- 4.Delays or abnormal functioning in at least one of the following areas, with onset before age 3 yr
- A.Social interaction
- B.Language as used in social communication
- C.Symbolic or imaginative play
- 5.The disturbance is not better accounted for by Rett syndrome or childhood disintegrative disorder
AAP recommendations for autism screening.
- recommends screening for autism at 18 and 24 months of age.
- Comprehensive testing should be done if there is an affected sibling or parental, other caregiver, or pediatrician concern.
Early Recognition of Autism
- There is currently a strong push to screen all children at 18 and 24 months for ASDs– in belief that early intervention leads to best outcomes
- Screening tools are problematic, however:
- CHAT: good tool to learn recognition but takes time
- M-CHAT: survey completed by parent– but will over-refer
Early Red Flags for Autism
- Not responding to name by 12 months
- No babbling or gestures by 12 months
- No pointing by 15 months
- Should “follow a point” by 14 months;
- Should point to indicate interest by 16 months
- No single words by 15 months
- No 2-word spontaneous phrases by 18 months
- Loss of language or social skills at any age
When a toddler has speech delay by 18 months, ask about:
- Is the delay expressive or also receptive?
- Can she point to body parts?
- Can she follow commands?
- Can she point to familiar objects?
- If receptive language delayed, ask:
- Does child take interest in others? Make eye contact and use gestures? Share interest in toys?
- Will he follow a point? Point to share interest?
Questions for two year olds
- Playing by self instead of with others
- Delayed echolalia and meaningless phrases
- Repetitive instead of imaginative play
- Trouble with transitions
US Infants & Children Are Immunized Against 15 Diseases
- Hepatitis A
- Hepatitis B
- Meningococcal meningitis
- Pneumococcal disease
Hepatitis A Vaccine
- children often have asymptomatic and/or unrecognized infections and therefore play major role in transmission of disease
- Recommended for all children at 12 months of age
- 2 dose series with first dose given at age 1 (12-23 months) and second dose given 6-12 months after the first
- Inactivated vaccine; given IM
- 3 forms available: Havrix and Vaqta are given to children < 18 years; Twinrix is a combination Hep A & Hep B vaccine given only to persons >18 years
Hepatitis B Vaccine
- Chronic infection more likely if infection acquired early in life
- ~25% of HBV-infected infants will die of HBV-related disease
- Transmission of HBV from child-to-child has been documented
- ~30% of HBV infections occur in persons without a known risk factor
- Recommended for all infants and unvaccinated children by age 11-12 yrs
- 3 dose series with first dose given shortly after birth & before discharge (HBS-Ag- mothers); second dose given @ 1 month and 3rd at 6-9 mos
- Two recombinant forms available; combination vaccines with HIB and Hep A also available
- Adverse effects: mild to moderate fever and injection site reactions
Diphtheria, Tetanus, and Pertussis Vaccine (DTaP)
- Pertussis infections occur in infants/young children:
- ~20% in infants < 6 months and ~50% in children < 5 years
- Serious complications: pneumonia, seizures, encephalopathy
- Pertussis is highly contagious
- Waning/lost immunity is problem;
- DTaP for children up to age 7
- 4 preparations of DTaP are FDA-approved: 2 can be used for the entire series, the remaining two can be given for the first four but not the 4-6 year old booster
- 5 dose series given at 2 mos, 4 mos, 6 mos, 12-18 mos and a booster at 4-6 years
- Alternatives: whole cell preparations are still available but associated with higher incidence of adverse effects
- DT is a pediatric vaccine used when pertussis is contraindicated in children
- Td is the adult vaccine routinely given for booster
- DTaP/HIB combinations are available
- Diphtheria toxoid and tetanus toxoid (TT) are available
- Adverse effects generally attributed to whole cell pertussis: high fever, unusual cry, seizures, rarely acute encephalitis. These have been decreased dramatically with DTaP.
- DTaP is 70-90% effective in preventing disease
- Adacel: approved for 11-64 year olds
- Boostrix: approved for 10-18 year olds; ideally recommended at 11-12 yrs
- Adolescents 11-18 who have already received Td should get a single dose of Tdap
- Before vaccine availability H. influenzae type B was responsible for invasive disease in 1 in 200 children < 5 yrs
- was #1 cause of bacterial meningitis in children < 5 yrs; high rate of neurologic complications
- pneumonia, cellulitis, epiglottitis, septic arthritis
- Vaccine decreases nasopharyngeal carriage
- Responsible for a 99% decrease in invasive disease in children ages 1-5 yrs caused by Haemophilus influenzae
- children >5 yrs at risk of invasive disease may be immunized
- 4 dose series given at 2 mos, 4 mos, 6 mos, and 12-15 mos
- Unvaccinated children between 2 & 5 yrs need only a single dose
- Adverse effects: mild fever, injection site reactions
- Polio virus is highly infectious
- ~85% of infected persons will transmit the virus to susceptible contacts
- manifestations include subclinical infection (most common), non-specific viral syndrome, viral meningitis & paralytic polio (least common)
- The Americas declared polio-free in 1994
- Oral vaccine (OPV) was long-time standard but associated with an increased risk of indigenously acquired disease (VAPP)
- In 1997 pediatric schedule was changed to 2 doses of OPV & 2 doses of inactivated vaccine (IPV); in 1999 the schedule was changed again to make all 4 doses IPV
- 4 dose series given at 2 mos, 4 mos, 6-18 mos and 4-6 years
Measles, Mumps, and Rubella (MMR) vaccine
- few practicing clinicians recognize measles!
- measles causes >1 million deaths/yr worldwide
- mumps can be severely painful
- rubella is a generally mild disease but fetal infection can result in devastating sequelae
- frequent outbreaks in Latino communities
- combined vaccine more effective than individual components
- Currently a 2 dose series given at 12 months and 4-6 years
- Children who did not receive a dose at 4-6 yrs should receive it at 11-12 years
- Current college age adolescents need proof of 2 doses after their 1st birthday
- Adverse effects: 5-15% incidence of fever, 5% incidence of rash, parotid swelling; arthralgias (mumps vaccine)
- Limited study (12 patients) raised concern about link to inflammatory bowel disease (especially Crohn’s disease) and autism; despite clear evidence of causal relationship some parents may insist on split vaccines or, worse, choose not to vaccinate
New recommendations: MMR and MMRV
- First doses of MMR and varicella can be given as MMR + V or MMRV
- Second doses of MMR and varicella should be MMRV
- Any child with a personal or family history of seizures should be given separate MMR and varicella
- highly infectious virus
- before vaccine, complications of VZV infections accounted for more than 80% of the 11,000 annual hospital admissions
- neonatal infections are particularly severe; those in young adults can be life-threatening
- 2 doses: (minimum age 12 months)
- < 13 yrs: 2 doses separated by at least 3 months
- > 13 yrs: 2 doses separated by at least 4 weeks
- Breakthrough disease does occur at rate of 1% per year
- Adverse effects: injection site reactions, rash; systemic reactions are rare
Pneumococcal conjugate vaccine - Prevnar
- like HiB, S. pneumoniae responsible for many cases of serious, invasive disease in children < 5 yrs
- risks for invasive disease: daycare attendance, chronic disease, race, recent use of antibiotics, smoke exposure
- antibiotic use common in current healthcare climate
- Pneumococcal conjugate vaccine - (formerly PCV7, now PCV13)
- Before vaccine S. pneumoniae was responsible for ~ 80% of invasive infections in children
- Race: Native Alaskan, Native American & African-American children at increased risk of infection
- 4 dose series given at 2 mos, 4 mos, 6 mos and 12 mos
- Adverse effects: fever, injection site reaction
- Pneumococcal polysaccharide vaccine (PPSV) can be to children ≥ 2yrs with underlying medical conditions
- major cause of severe gastroenteritis in children 0-5 yrs
- 1 in 80 US infants hospitalized annually
- ½ million office visits annually
- immunocompromised children at increased risk of death
- virus shed in large #’s in stool
- RotaTeq: pentavalent live vaccine given orally. targets strains that cause >90% of rotavirus gastroenteritis in US
- 3 dose series given at 2, 4, and 6 months
- first dose should be given @ 6-14 weeks of age
- series should not be started later than 15 weeks of age
- no dose should be given after 32 weeks of age
- vaccine indicated as “Rota” on previous schedules; now “RV”
- Meningococcal disease in college students
- All 18-23 year olds: 1.4 per 100k
- College students: 0.6 per 100k
- College freshman: 1.8 per 100k
- All students in dormitories: 2.2 per 100k
- Freshmen in dormitories: 5.4 per 100k
- Protects against serotypes A, C, Y and W-135
- 2 vaccines now available: Menomune (polysaccharide) & Menactra (polysaccharide/diphtheria toxoid conjugate vaccine)
- Menactra (MCV) is now the preferred vaccine for children 2-10 yrs with complement deficiencies, asplenia and/or other high risk conditions AND is recommended for previously un-immunized adolescents 11-18 yrs
- GIVE AT AGE 11 YRS; BOOSTER @ 16 YRS; new recommendation 10/2010
- Adverse effects: rare and mostly limited to injection site reactions
- highly contagious virus
- year olds at increased risk: no prior immunity, increased rate of hospitalization, neurologic & pulmonary complications
- children have highest attack rate
- daycare, schools facilitate spread
- 2 types: inactivated (TIV) & live, attenuated (LAIV)
- Use with care!! Not all preparations approved for all ages of pediatric patients; LAIV is now approved for healthy kids as young as 2yrs
- do not give to children <5yrs with history of recurrent wheezing in past 12 months
- Do not immunize infants < 6 months of age
- Children < 9 yrs being immunized for the first time require 2 doses separated by 1 month
- Vaccine is recommended for children with chronic disease and all children 6-59 months of age (now 6mos-18yrs) (TIV or LAIV if ≥ 2yrs)
- Adverse effects: mild systemic reactions (flu-like)
- Egg allergy may be a contraindication
HPV vaccines: Gardasil and Cervarix
- HPV now most common STD in US
- prevalence of HPV infections highest among sexually active females < 25 years of age
- genital warts, cervical, vaginal & vulvar cancers
- infection occurs early after onset of sexual activity
- ~6 million new cases per year; 74% of these occur in 15-24 year olds
- Gardasil is a quadrivalent vaccine that protects against HPV types 6,11, 16 & 18
- Cervarix is a bivalent vaccine that protects against HPV types 16 & 18
- administered by IM injection
- both are 3 dose series: 2nd dose given 2 months after first, 3rd dose given 6 months after first
- recommended age: 11-12 yo females
- can be given as young as 9 years
- catch-up is recommended for females 13-26 yrs
- Growing controversy regarding safety, especially with Gardasil
- As of 2/11 approximately 33 million doses have been given; most reported adverse events are non-serious (92%). 8% are serious including 51 deaths
Vaccine Precautions: circumstances in which a vaccine may be indicated if benefit to pt outweighs risks of an adverse event to the vaccine. These vary with each vaccine but include:
- moderate or severe acute illness with/without fever
- severe symptoms ≤ 48hrs after a previous dose of any vaccine
- recent (≤ 11 months) receipt of Ab-containing blood product
- DTP/DTaP: convulsions, hypotension, inconsolable crying > 3hrs/underlying or unexplained neurologic disease
Vaccine Contraindications: circumstances in which a vaccine should not be given. These vary with each vaccine but include:
- Severe allergic reaction after a previous vaccine dose
- Severe allergic reaction to a vaccine component
- Known severe immunodeficiency
- Encephalopathy or other serious neurologic sequelae after DTP or DTaP vaccination
- Influenza vaccine in pts with severe allergic reaction to eggs
Immunization vs Vaccination
- Vaccination is actual process of administering agent; can be a toxoid, antitoxin or Ig
- Immunization is process of inducing immunity which is active or passive
- active: via vaccination or natural infection; permanent
- passive: via exogenously formed antibodies; temporary
- Vaccination results in active immunity and immunologic memory consistent with natural infection but without risk of disease
Live, Attenuated Vaccines
- decreased pathogenicity
- effectiveness depends on ability to replicate
- response similar to natural infection
- usually effective with single dose
- examples: measles, mumps, rubella, MMR, varicella, (yellow fever), rotavirus, influenza (LAIV)
- cannot replicate in host
- usually require multiple doses
- protected in vivo against circulating antibodies
- examples: influenza (TIV), polio, hepatitis A, hepatitis B, diphtheria, tetanus, pneumococcal, meningococcal, HIB, HPV
- produced from specific purified antigens
- examples: DTaP, Tdap
- genes that code for a specific viral protein are expressed in another microbe
- examples: Hep B, HPV
- vaccines for bacteria with polysaccharide capsules; linked to protein carriers
- examples: pneumococcal, HIB, meningococcal
Passive Prophylaxis Practices
- Prophylaxis may include antibiotics, immunoglobulin or monoclonal antibody, vaccine, or in combination and may be used postexposure, for perinatal exposure, and pre-exposure for persons at increased risk for infection.
- Primary prophylaxis is used to prevent infection before a first occurrence.
- Secondary prophylaxis is used to prevent recurrence after a first episode.
- Use of an antiserum or hyperimmune globulin from another person or animal to provide temporary protection against a specific infectious or toxic agent.
- 4 day grace period for vaccines given earlier than minimum interval or prior to minimum age
- No maximum number of vaccines
- Vaccine shortages: on/off
- Manufacturer interchangeability
- International adoptions
- Recent administration of blood products (live vaccines)
- Tb testing (live vaccines)
Vaccines for Children Program
- Federally-funded program initiated to increase immunization of children
- Provides vaccines to healthcare professionals at no charge who can then make them available to children up to the age of 19 years who are: Medicaid eligible, uninsured, underinsured, American Indian or Alaskan Native
- Providers may charge administrative fee (maximum of $14.81) ± office fee but cannot refuse vaccines if parents unable to pay administrative fee
- Providers do not have to be Medicaid participants to offer VFC
- Every office/clinic visit is an opportunity to immunize; identify and minimize all barriers
- HCPs must provide parents with copies of Vaccine Information Statements before giving any vaccine in schedule
- HCPs should follow only medically accepted contraindications
- Administer as many indicated doses as possible
- Records should be accurate and complete
- Systems in place to remind parents/pts/HCPs when vaccines are due
- All HCPs should be appropriately vaccinated
- Main component of RBC
- Physiologic carrier of O2
- Diagnostic criteria for anemia is decreased Hgb level
- Normal Hgb is slightly lower in African-American children
- Fetal red cells have a considerably higher oxygen affinity than do adult red cells, ensuring that the hemoglobin of the fetus is oxygenated at the expense of maternal HbA, thereby facilitating the transport of oxygen across the placenta.
- Red cells of the newborn contain about 80 percent HbF and 20 percent HbA. By the time individuals are older than six months, HbF constitutes less than 1 percent of the total hemoglobin.
Mean Corpuscular Volume (MCV)
- Measure of RBC size
- RBCs larger at birth than in adults
- MCV decreases during first 6 months of life
- gradually increases during childhood
- Pearl: Lower limit of normal for MCV=70+ child’s age; Up to 76, which is the lower limit until puberty
- Hct is roughly 3x Hgb and MCV is roughly 2x Hct
Pediatric Anemia Signs and Symptoms
- Depend upon the degree and rate of reduction of hemoglobin
- few physiologic disturbances until < 7-8 g/dL
- Decreased oxygen transport
- fatigue, dyspnea, syncope
- Decreased blood volume
- pallor, postural hypotension
- Increased cardiac output
- congestive heart failure
- paleness, irritability, fatigability, exertional dyspnea, orthopnea, faintness, altered mentation, pica, tachycardia, inactivity, anorexia, palpitations, headache, vertigo, sore tongue, dark urine
Pediatric Anemia Diagnostic Approach
- Complete blood count
- RBC count
- Reconfirm values
- Reticulocyte count
- Examine peripheral smear
- Urinalysis, Coombs test, stool guaiac
Anemia: Age related diagnosis
- Newborn period: blood loss, hemolysis
- Early infancy: pure red cell aplasia, physiologic anemia
- 6 months-12 years: nutritional anemias, acute inflammation, bone marrow infiltration
- Adolescence: iron deficiency
Microcytic Hypochromic Anemia: Iron deficiency
- Affects up to 5-10% infants
- dietary deficiency is most likely cause
- Other causes should be sought according to age group; i.e. blood loss, increased demand (growth), chronic hemolysis, impaired absorption
- Lab findings: decreased MCV, reticulocytes, RBCs and ferritin, increased TIBC and transferrin
- Treatment: elemental iron (Niferex)
- hemoglobin is 2/3 corrected after 1 month
- if responds continue therapy 2-4 months
Microcytic Hypochromic Anemia: Lead poisoning
- Often concomitant with iron deficiency
- same age group (toddlers)
- Important differential in urban settings or homes built prior to 1970s
- Anemia results from inhibition of synthetic enzymes necessary for production of hemoglobin
- Lab findings: low MCV, basophilic stippling on smear, elevated FEP
- Treat with Succimer
- oral chelating agent, course lasts 19 days
Thalassemia minor: Beta thalassemia
- gene carried by 4% of people of Mediterranean descent, also Chinese, Africans
- 0.5 % African Americans
- Lab findings: mild hypochromia, microcytic anemia (MCV<70), anisocytosis (abnormal variation in size of RBCs), poikilocytosis (abnormal shape of RBCs) on peripheral smear, elevated Hgb A2 on Hgb electrophoresis
Thalassemia minor: Alpha thalassemia
- severity of clinical syndrome depends upon number of genes expressed
- single gene deletion (Silent carrier)
- two gene deletion: Alpha thalassemia trait, occurs in 1.5% African Americans, results in hypochromic- microcytic anemia, normal Hgb electrophoresis
- three gene deletion: Hemoglobin H, moderately severe chronic hemolytic anemia
- four gene deletion / all genes absent: Bart’s or Hydrops fetalis, incompatible with life
- Cooley’s anemia
- severity of anemia depends upon B globin synthesis from parental genes
- B0 no globin gene produced
- B+ partial production
- transfusion dependent
- results in destruction of RBCs in bone marrow or spleen
- Anemia with larger than average, poorly developed, short-lived RBCs
- Macrocytosis: MCV>100
- Associated with: Down syndrome, normal newborn, folic acid deficiency, vitamin B12 deficiency
- Dx: Peripheral blood smear, B12 level
Vitamin B12 Deficiency: macrocytic anemia
- rare in children
- malabsorptive states
- symptoms at diagnosis: neurologic manifestations, paresthesias of extremities
- Labs: megaloblastic bone marrow, dissociation of nucleus maturation compared to cytoplasm, nucleated RBCs, Howell-Jolly bodies (nuclear remnants (DNA) in circulating RBC), positive Schilling test
- Treatment: life-long parental Vitamin B12
Folic acid deficiency: macrocytic anemia
- Rare in children due to food additives
- seen in malabsorptive states
- unusual diets
- chronic use of anticonvulsants
- antibiotics such as trimethoprim
- Treatment: oral folic acid replacement
- Dx: Schilling test, Bone marrow biopsy
- Often associated with chronic inflammatory diseases
- LOW reticulocyte response
- anemia of inflammation
- congenital pure red cell aplasia, Diamond-Blackfan syndrome
- transient erythroblastopenia of childhood: acquired, older than 6 months of age
Hereditary Hemolytic Anemia: Intrinsic membrane defects
conditions caused by abnormalities of the RBC cytoskeleton which produces accelerated RBC destruction in the spleen
Hereditary Hemolytic Anemia: Hereditary spherocytosis
Autosomal dominant, elevated MCHC, spherocytes on peripheral smear; diagnosis confirmed by osmotic fragility test
Hereditary Hemolytic Anemia: Hereditary elliptocytosis
benign dominantly-inherited disorder, elliptocytes on peripheral smear, significant hemolysis in10% of patients
Hereditary Hemolytic Anemia: RBC enzyme defect G6PD deficiency
- glucose-6-phosphate dehydrogenase, common, gene is X-linked (males affected).
- Type A variant present in 10% African American males.
- Hemolysis can occur in this population with antimalarial agents.
- Definitive test = G6PD assay
Hereditary Hemolytic Anemia: Hemoglobinopathy Sickle cell disease
- Hgb S gene carried by 8% of African American population.
- Homozygous SS, SC, SB thal are clinically significant syndromes
- characterized by lifelong anemia, acute and chronic tissue damage related to sickling and increased susceptibility to encapsulated organisms.
- SA is sickle cell trait.
- Diagnosis confirmed by hemoglobin electrophoresis.
- Acute clinical manifestations
- acute vasoocclusive episodes: pain crises, stroke, acute chest syndrome, priapism
- acute anemic episodes: splenic sequestration, hyperhemolytic episodes, aplastic crises
- infection: increased susceptibility secondary to functional asplenia, other immune abnormalities. Penicillin prophylaxis until age 5. Pneumovax
- Chronic clinical manifestations: central nervous system, cardiovascular, respiratory, hepatobiliary, ocular, skeletal, nutritional, genitourinary, growth and development
Acquired hemolytic anemias: Fragmentation hemolysis
- microangiopathic damage to RBCs
- hemolytic uremic syndrome
- giant hemangioma
- artificial heart valves
Acquired hemolytic anemias: Immune-mediated hemolytic anemia
- Hemolytic disease of the newborn
- Autoimmune hemolytic anemia
- Antibody mediated hemolysis is unusual but may be associated with collagen vascular disease, lymphoma, drugs
- Most often present with symptoms of infection or bleeding
- Anemia may be secondary finding to leukopenia or thrombocytopenia
- Quantitative decrease in formed elements of the blood: erythrocytes, leukocytes, platelets
- Diagnostic features: low reticulocyte count, teardrop forms of RBCs, presence of abnormal forms of leukocytes, myeloid elements less mature than bands, elevated MCV with low reticulocyte count
- Usually gradual in onset
- bone marrow replaced by fat
- Most often idiopathic in developed countries
- May be induced by certain drugs or infections, hepatitis and mononucleosis
- Survival only 20% with supportive care alone
- Ideal treatment in severe cases HSCT with sib
Congenital Hemostasis Disorders
- Factor V Leiden (activated protein C resistance)
- Prothrombin 20210
- Protein C deficiency
- Protein S deficiency
- Antithrombin III deficiency
- Plasminogen deficiency
Acquired Hemostasis Disorders
- Indwelling catheters
- Lupus anticoagulant/antiphospholipid syndrome
- Nephrotic syndrome
- Birth control pills
- Autoimmune disease
- Inflammatory bowel disease
Disorders of Hemostasis
- A detailed family history is crucial for bleeding and thrombotic disorders. Hemophilia is X-linked, and almost all affected children are boys.
- von Willebrand disease usually is inherited in an autosomal dominant fashion.
- In the investigation of thrombotic disorders, a personal or family history of blood clots in the legs or lungs, early-onset stroke, or heart attack suggests a hereditary predisposition to thrombosis.
- The causes of bleeding may be hematologic in origin or due to vascular, nonhematologic causes.
- Thrombotic disorders can be congenital or acquired and frequently present after an initial event (central catheter, trauma, malignancy, infection, pregnancy, treatment with estrogens) provides a nidus for clot formation or a procoagulant stimulus.
Clinical Manifestations of Hemostasis Disorders
- Patients with hemostatic disorders may have complaints of either bleeding or clotting.
- Age at onset of bleeding indicates whether the problem is congenital or acquired.
- The sites of bleeding (mucocutaneous or deep) and degree of trauma (spontaneous or significant) required to induce injury suggest the type and severity of the disorder.
- Certain medications (aspirin and valproic acid) are known to exacerbate preexisting bleeding disorders by interfering with platelet function.
Hemostasis Disorders Physical Exam
- The physical examination should characterize the presence of skin or mucous membrane bleeding and deeper sites of hemorrhage into the muscles and joints or internal bleeding sites.
- The term petechia refers to a nonblanching lesion less than 2 mm in size.
- Purpura is a group of adjoining petechiae, ecchymoses (bruises) are isolated lesions larger than petechiae, and hematomas are raised, palpable ecchymoses.
- Because systemic disorders may induce either hemorrhagic or thrombotic disorders, the physical examination should search for manifestations of an underlying disease, lymphadenopathy, hepatosplenomegaly, vasculitic rash, or chronic hepatic or renal disease.
- Deep venous thrombi may cause warm, swollen (distended), tender, purplish discolored extremities or organs or no findings.
- Arterial clots cause acute, painful, pale, and poorly perfused extremities.
- Arterial thrombi of the internal organs present with signs and symptoms of infarction.
Hemostasis Disorders Lab Testing
- Screening laboratory studies for bleeding patients include a platelet count, prothrombin time, partial thromboplastin time, fibrinogen, and bleeding time or other screening test of platelet function.
- Many laboratories have adopted the platelet function analyzer (PFA) to replace the bleeding time as a screening test for platelet function abnormalities and von Willebrand disease.
- The PFA has variable sensitivity and specificity for common bleeding disorders.
- No single laboratory test can screen for all bleeding disorders.
- The findings on screening tests for bleeding vary with the specific disorder
- platelet counts less than 150,000
- decreased production, increased destruction; sequestration
ITP (idiopathic immune thrombocytopenia purpura)
- Autoimmune: caused by an antibody that binds to the platelet membrane
- common in children following a viral infection
- Clinical findings: 1-4 weeks after an acute viral illness. Abrupt onset of petechiae, purpura, epistaxis. Significant hepatosplenomegaly, adenopathy
- Laboratory evaluation: severe thrombocytopenia
- Dx: bone marrow biopsy not usually indicated
- Tx: does not affect outcome; only to increase platelets acutely. Rarely indicated for platelet counts over 30, 000. 80% have spontaneous resolution within 6 months
NATP (neonatal alloimmune thrombocytopenia purpura)
- Occurs as the result of sensitization of mother to antigens present on fetal platelets
- antibodies cross the placenta & attack fetal platelets
- infant at risk for intracranial hemorrhage in utero
- Clinical findings: mother’s platelet count may be useful indicator
- Laboratory evaluation: fetal scalp sampling or percutaneous umbilical blood sampling may measure fetal platelet count
- Dx: fetal thrombocytopenia as above
- Tx: C-section recommended. IV immunoglobulin before delivery may be used. Infants may require corticosteroids after birth
TTP (thrombotic thrombocytopenia purpura)
- Platelet consumption: congenital or acquired deficiency of enzyme necessary to cleave von Willebrand factor
- congenital TTP is very rare
- Clinical findings: may be jaundiced or pale, predominantly CNS symptoms, may have significant renal disease, recurrent episodes are common
- Laboratory evaluation: severe thrombocytopenia, may have spherocytes, typically have schistocytes in circulation, modest deposition of fibrin, RBC destruction
- Treatment: plasma exchange
TAR (thrombocytopenia with absent radii syndrome)
- Severe thrombocytopenia associated with orthopedic abnormalities, especially the upper extremities
- thrombocytopenia resolves over time
- Treatment: patients typically need frequent platelet transfusions up to age one year
von Willebrand Disease
- vWF is an adhesive factor that serves as a bridge between subendothelial collagen and platelets, and binds with circulating factor 8 to protect it from rapid clearance.
- Common disorder. found in 1% of the population
- autosomal dominant inheritance pattern
- caused by a deficiency in von Willebrand factor
- Clinical findings: mucocutaneous bleeding, epistaxis, gingival bleeding, cutaneous bruising, menorrhagia
- Laboratory evaluation: von Willebrand antigen (quantitative / structural test), Ristocetin cofactor assay (functional evaluation)
- Diagnosis: if severe, may mimic Hemophilia A
- Treatment: Desmopressin for bleeding episodes. vWF-containing concentrate may be used in severe episodes. prevention of trauma when possible. hepatitis B vaccine due to multiple blood donors
Hemophilia A Disease
- Factor 8 deficiency
- Occurs in 1 in 5,000 males
- Clinical findings: symptoms are consistent with degree of clotting factor deficiency. Mild case may go unnoticed until severe trauma. Moderate cases bleed with trauma. Severe cases bleed spontaneously. Often noticeable by toddler stage
- Laboratory evaluation: Prolonged activated partial thromboplastin time (aPTT). Should correct to normal when mixed 1:1 with normal plasma
- Diagnosis: based on aPTT. Specific factor assays necessary
- Treatment: prevent trauma whenever possible. early, appropriate replacement therapy with Factor 8. Desmopressin for mild-moderate disease. Manage bleeding episodes at home with trained parental oversight. High risk for hepatitis B,C,D and HIV
- Factor 9 deficiency
- 15-20% of hemophilia
- Christmas disease
- Clinical findings: indistinguishable from Hemophilia A
- Laboratory evaluation: prolonged aPTT
- Diagnosis: specific factor assays
- Treatment: appropriate replacement therapy. Prevent trauma whenever possible. Desmopressin has no effect on Factor 9. Manage bleeding episodes at home with trained parental oversight. High risk for hepatitis B,C,D and HIV
Disseminated Intravascular Coagulation (DIC)
- Clinical findings: widespread activation of the coagulation mechanism. Usually associated with shock. Altered balance of hemorrhage and clotting
- Laboratory evaluation: decline in platelets and fibrinogen. Elevated PT, aPTT. Elevated D-dimer
- Diagnosis: Balance of hemostasis altered by severe illness. Activation of coagulation mediated by thrombin. Fibrinolysis mediated by plasmin. Coagulation factors are consumed
- Treatment: Treat the underlying disorder. Support the patient. Correct hypoxia, acidosis, poor perfusion. Replace depleted blood products. Heparin may be used in some cases. Drotrecogin alfa (recombinant activated protein C) reduces mortality in adults; unconfirmed in children.
Hereditary Predisposition to Clotting
- Caused by a deficiency of an anticoagulant protein: Protein C or S, antithrombin, or plasminogen; or by an abnormality of a procoagulant protein; or by damage to endothelial cells. Homocysteinemia
- Neonates and adolescents most likely to present with predisposing causes: indwelling catheters, trauma, infection, surgery, abortion
- Laboratory evaluation: no appropriate screening studies for thrombotic disorders. Battery of specific assays required to diagnose.
- Diagnosis: venous ultrasound Doppler flow compression studies. Gold standard is venogram
- Treatment: standard or low-molecular-weight heparin
Cancer in Children
- 1% of new cancer cases occur in children younger than 19 years of age
- Types of cancer vary by age
- Difficult to detect in its early stages
- symptoms are nonspecific
- onset is insidious
- mimics more common disorders
- Five-year survival rates vary by site
- 70-80 % overall
- rates are increasing
Most Common Classifications of Childhood Cancers
- Hematopoietic cancers: leukemia, lymphoma
- Brain and CNS tumors
- Sarcomas: soft tissue, bone
15 Most Common Clinical Manifestations of Malignancy In Children
- Weight loss
- Night sweats
- Mass or swelling
Diagnostic Evaluations for Childhood Cancer
- CBC with differential & peripheral smear: (Best screening test for most pediatric malignancies) leukopenia with or without neutropenia, anemia, thrombocytopenia, leukocytosis (blasts)
- Lactate dehydrogenase (LDH): often elevated in fast-growing tumors
- Uric acid: often elevated in fast-growing tumors
- Renal function
- Hepatic function
- Chest radiograph: PA & lateral to evaluate cervical LAD or mediastinal masses
- Abdominal ultrasound or CT: evaluate masses
- Head CT or MRI: evaluate headache, vomiting, neurologic symptoms
- Plain radiograph of bone: evaluate suspicious mass or limp
- PET scan may prove helpful in staging a cancer once diagnosed
Vaccine Prevention of Malignancy
- Hepatitis B vaccination to lower rates of hepatocellular carcinoma
- HPV vaccination to decrease risk of cervical, vaginal and vulvar carcinoma
- “Cure all patients with minimal toxicity”
- Clinical trials benefit children
- Multimodal therapies
- Surgery: indicated primarily in solid tumors, resection if possible, otherwise biopsy, resect tumor with surrounding margin of normal tissue
- Radiation: delivering ionized radiation to malignant cells, direct kill, prevent division through interfering with DNA replication, not all tumors are radiosensitive, radiation therapy is not indicated in all tumors that are radiosensitive
- Chemotherapy: used in almost all pediatric cancers, most pediatric tumors have a high risk for micrometastatic disease at diagnosis, may be infused directly into CNS via LP
- exceptions: low-grade neuroblastoma, low-grade CNS tumors
- Targeted Therapies: “individualizing” cancer therapy, requires molecular genetic analysis of tumors, cytokines, biologic response modifiers, monoclonal antibodies
- Etiology unknown
- likely multifactorial
- recurrent nonrandom chromosomal translocations in leukemia
- environmental factors may increase risk of leukemia
- 2500-3500 US cases per year
- Affects 40 per 1 million children under the age of 15 years
Acute Lymphoblastic Leukemia (ALL)
- Accounts for 75% of new leukemia cases
- incidence peaks at age 2-5 years of age
- higher in boys than girls
- in US more common in white than African-American children
- Classified as B-lineage or T-lineage
- Clinical findings secondary to bone marrow failure or infiltration of leukemic cells into normal tissue: Fever, pallor, petechiae or ecchymoses, lethargy / malaise, anorexia, bone or joint pain
- Diagnostic evaluations: confirmed with blasts on peripheral smear, bone marrow aspirate or both. Bone marrow biopsy should be done urgently. Cytogenetic studies. Lumbar puncture to evaluate for CNS involvement
- DDx: most common is infection, aplastic anemia, juvenile RA, other malignant processes
- Tx: three or four-agent induction chemotherapy, radiation if CNS disease present, all patients get continuous therapy for 2-3 years
- Prognosis: four prognostic risk groups, overall cure rate with current therapy approximates 80%
Acute Myelogenous Leukemia (AML)
- Accounts for 15-20% of childhood leukemias
- incidence relatively high in neonatal period, drops, then slight increase in adolescence to adulthood
- equal in males and females
- incidence slightly higher in Hispanic and African-American children
- Clinical findings: similar to ALL. Extramedullary soft tissue tumors may be found
- Diagnostic evaluations: bone marrow biopsy. cytogenetic studies
- DDx: similar to and including ALL
- Tx: different than ALL. Non-myelosuppressive drugs are not effective. Needs myelosuppressive chemotherapy. No evidence that continuation therapy is helpful
- Prognosis: overall cure rate approaches 50%. Better outcome for patients who receive matched sibling stem cell transplant in first remission
- Malignancies of lymphoid tissue
- Third most common malignancy in childhood
- Etiology unknown
- Epstein-Barr virus may play a role
- Unknown etiology
- Bimodal peaks: adolescence / young adult years, rare before age 5, age 50+
- boys more than girls in childhood
- Clinical findings: painless, firm lymphadenopathy. Often supraclavicular and cervical areas. Mediastinal mass causing cough or SOB
- Diagnostic evaluations: tissue biopsy, pleural or peritoneal fluid evaluation may be helpful, may be accompanied by fever, weight loss. Pathologic hallmark is Reed-Sternberg cells
- DDx: leukemia, rhabdomyosarcoma , nasal pharyngeal cancers, germ cell tumors, thymomas, infectious diseases including cat scratch fever
- Treatment: combination of chemotherapy and low-dose, involved field radiation therapy, combined chemotherapy
- Prognosis: three risk groups (low, medium, high), excellent prognosis, overall survival rate 90%. Close to 100% in low-risk patients
Non-Hodgkin Lymphoma (NHL)
- Associated with congenital or acquired immunodeficiency states
- B-cell, T-cell, Large-Cell
- Incidence increases with age
- more common in whites than African-Americans
- more common in males than females
- Clinical findings: lymphadenopathy , sometimes abdominal pain
- Diagnostic evaluations: tissue biopsy
- DDx: similar to and including Hodgkin disease
- Tx: distant noncontinuous metastases common, systemic chemotherapy mandatory, highly chemo-sensitive
- Prognosis: related to stage, overall 3 year survival rates 70-90%
- Derived from neural crest cells, the cells that form the adrenal medulla and the sympathetic nervous system
- The most common extracranial solid tumor of childhood
- The most common malignancy in infancy
- median age at diagnosis is 20 months
- represents 8% of childhood cancers
- 15% of cancer deaths in children
- Clinical findings: localized disease often asymptomatic at diagnosis, if metastases often systemic symptoms, most common presentation is abdominal pain / mass (hard, smooth, nontender flank mass), paraneoplastic syndromes can develop
- Diagnostic evaluations: CBC, plain films, 90% of neuroblastoma produce catecholamines. VMA, HVA can be detected in the urine. Tissue sample for cytogenetic analysis. mIBG scintography for detecting metastatic disease
- DDx: Wilms tumor, leukemia, periorbital mets can cause ecchymoses; may be mistaken for abuse
- Treatment: based on surgical staging and biologic features. Complete surgical resection for localized disease. Add chemotherapy for distant disease. May also require radiation therapy. In some cases high-dose chemotherapy with autologous stem cell rescue. Spinal cord compression is a risk.
- Prognosis: low, average, high risk. Better if under 1 year of age
- Arises from precursor cells of normal kidney
- cause unknown; associated with certain congenital anomalies
- Most common malignant renal tumor of childhood
- mean age at diagnosis is 3 – 3.5 years
- incidence equal in males and females
- Clinical findings: most common presentation is an abdominal mass, may be asymptomatic. may have abdominal pain, fever, hypertension, hematuria
- Diagnostic evaluation: abdominal ultrasound or CT, CBC, liver and kidney function tests, tissue analysis
- DDx: hydronephrosis , polycystic kidney disease, benign renal tumors, other malignant tumors including lymphoma
- Treatment: nephrectomy , adjuvant chemotherapy
- Prognosis: cure rate for tumors localized at diagnosis is more than 85%
- Etiology unknown
- Increased risk in Li-Fraumeni syndrome and neurofibromatosis
- Most common malignant bone cancer in children (with osteosarcoma)
- Can occur in almost any bone in the body.
- Femur and pelvis most common
- incidence peaks ages 10-20
- affects primarily Caucasians
- Clinical findings: local pain and swelling, fever and weight loss
- Sarcomas arise from the connective tissues of the body: soft tissue and bone
- Diagnostic evaluations: MRI of primary lesion, tissue needed for definitive diagnosis (small, round. Blue cell tumor), immunohistochemical analysis, cytogenetic and molecular diagnostic studies. Evaluate for metastatic disease
- DDx: benign lesions, infections, osteomyelitis, orthopedic issue if limp
- Treatment: preoperative chemotherapy, local control measures, limb salvage surgery or amputation, further chemotherapy, radiation sensitive
- Prognosis: cure rate for local disease is approximately 60-70%. Lung mets at diagnosis decreases to 30-35%
- Derives from primitive bone-forming mesenchymal stem cells
- Most common malignant bone cancer in children (with Ewing sarcoma)
- Increased risk in children with cancer who have received radiation therapy or alkylating chemotherapies (second malignancy)
- Incidence peaks in adolescence with maximum growth velocity
- most often located at epiphysis
- Clinical findings: pain, palpable mass / swelling
- Diagnostic evaluation: radiographs show lytic lesions with calcification, needle biopsy (“osteoid substance” on pathology), micrometastases usually present at diagnosis
- DDx: trauma, infection
- Treatment: neoadjuvant chemotherapy, limb salvage therapy or amputation, postoperative chemotherapy, interferon alpha-2a (investigational immunotherapy)
- Prognosis: cure rate for localized disease 60-70%, if lung mets 30-35%
- Most common soft tissue sarcoma in children
- derived from mesenchymal cells committed to skeletal muscle lineage
- Incidence peaks ages 2-6 years old & adolescents
- Clinical findings: depends on site of origin, head and neck symptoms, urethral or vaginal masses, quickly growing trunk or extremity masses, metastatic disease / mass effect may cause pain
- Diagnostic evaluations: tissue diagnosis (small, round blue cell tumors), cytogenetic studies, imaging screen for metastases
- DDx: benign tumors, infections, Wilms tumor or neuroblastoma if abdominal
- Treatment: chemotherapy, surgery, potentially radiation therapy
- Prognosis: excellent for localized disease
- Most common intraocular malignancy of childhood
- 95% of cases in children younger than 5 years
- equal incidence in males and females
- 25% of cases are bilateral
- Most frequently present with leukocoria, “white pupil”
- Diagnostic evaluations: dilated indirect ophthalmologic examination under anesthesia, chalky white gray retinal mass, soft friable consistency, orbital / head MRI
- DDx: other conditions that produce leukocoria, clinically distinct
- Treatment: standard therapeutic options: enucleation, external beam radiation therapy, brachytherapy, cryotherapy, laser photoablation, and chemotherapy
- Prognosis: overall 5 year survival rate in US is 93%. Recurrence-free for 5 years considered cured
Potential Long-Term Complications of Childhood Cancer Treatments
- second cancers
- hepatic veno-occlusive disease
- pulmonary fibrosis
- cognition / intelligence deficits
- pituitary dysfunction
- thyroid dysfunction
- psychosocial impact
Early Warning Signs of Childhood Cancer
- Continued, unexplained weight loss
- Headaches with vomiting in the morning
- Increased swelling or persistent pain in bones or joints, sometimes limping
- Lump or mass in abdomen, neck, or elsewhere
- Development of a whitish appearance in the pupil of the eye; sudden vision change
- Recurrent fevers not caused by infections
- Excessive bruising or bleeding, often sudden
- Noticeable paleness or prolonged tiredness
Child Under 3 Months of Age With a Fever > 101°F (38.3°C)
- In most primary care practices, you will see children with respiratory infections (colds, otitis media, pharyngitis, etc.) every day.
- Many of them will have fever.
- Most of their infections will be fairly easy to diagnose and treat.
- But…a child under 3 months of age with a fever > 101°F (38.3°C) has a potentially life-threatening illness and requires immediate, thorough, aggressive evaluation and treatment.
- The Common Cold
- Purulent Rhinitis: A syndrome in young infants associated with a persistent mucopurulent nasal discharge and an irregular fever. Group A streptococci and Streptococcus pneumoniae are frequent causative agents
- Otitis Media
- Laryngotracheobronchitis (Croup)
Etiologic Agents of the Common Cold
- The most common infectious disease entity
- 50% of URIs are colds (aka viral rhinitis)
- Epidemiology: Children have 6-7 episodes/year; some children have more. Incidence decreases as children get older. More prevalent in the winter months. Day care, school, parental smoking, low income and crowding increase the risk of catching a cold. Preschoolers are commonly responsible for household spread
- Etiology: Over 200 viruses. Rhinoviruses (100 serotypes); Coronaviruses; Parainfluenza viruses, respiratory syncytial virus, adenoviruses, influenza viruses, enteroviruses; human metapneumovirus
- Transmission: Children are main reservoir of cold viruses; their infection then introduces the virus into the home
- Routes of transmission: Hand contact of contaminated objects, Inhalation of airborne droplets (droplet infection)
- Incubation period 2-5 days but can be as long as 8 days
Common Cold Clinical Presentation
- Symptoms generally resolve in 5 to 7 days, but may persist for up to 10 days
- nasal irritation
- nasal congestion
- watery nasal discharge
- scratchy throat
Common Cold Differential Diagnosis
- Purulent rhinitis
- Allergic rhinitis
Common Cold Evaluation
- History: Symptoms & duration, Epidemiologic data
- Physical exam: Vital signs, HEENT, Lungs & heart
- Laboratory studies if indicated
Common Cold Treatment and Management
- Saline nose drops (¼-½ tsp salt and 4-6 oz of water)
- Nasal bulb suction device
- Cool mist humidification of the air
- Maintain hydration
- Elevate the head of the bed
- Saline gargles or lozenges for older children
- Antipyretics: (avoid aspirin) acetaminophen, ibuprofen (children ³ 6 months of age)
- Decongestants (for children ≥ 6 years of age)
- oral : pseudoephedrine or phenylephrine
- topical: phenylephrine or oxymetazoline (children over age 2)
- Cough suppressants: dextromethorphan or narcotics
- No role for antihistamines
- FDA issues official advisory: no cough, cold medications recommended for children under 2
Common Cold Prevention
- Good handwashing and avoidance of environment contaminated with nasal secretions
- Avoidance not practical
- No role for multivitamins, vitamin C in pediatric populations
- Breastfeeding may be protective
Common Cold Complications
- Younger children may have high fevers in absence of secondary infection
- Bacterial secondary infections most common: otitis media, sinusitis, adenitis, pneumonia, bronchitis, asthma exacerbations
- Parents should be instructed to watch for any signs of difficult breathing and prolonged high fevers
- Etiology: Influenza type A, Influenza type B
- Epidemiology: Antigenic variation, Epidemic, Pandemic
- Spread of virus is caused by the formation of virus-laden aerosol droplets when an infected individual coughs or sneezes. Individuals in the immediate vicinity inhale particles.
- The efficiency of aerosol spread is high and in closed communities can approach 90%.
- Illness usually occurs 1-4 days after exposure
Influenza Clinical manifestation:
- Sudden rise in temperature, rigors, myalgia, headache, lassitude and anorexia.
- Acute bronchitis
- Children - croup, bronchiolitis, GI upset, conjunctivitis, otitis media
- Sore throat, nasal congestion, conjunctivitis, nonproductive cough.
- Illness lasts several days
- Post viral asthenia
- Virus isolation or antigen detection
Treatment (Influenza A)
- Rimantadine (fewer side effects but FDA-approved only for prevention)
- Newer drugs (neuraminidase inhibitors): Tamiflu is now approved for children >1 year of age
- 2005-resistance of influenza A strains to oseltamivir first reports
- Resistance is increasing, includes H1N1
- Pneumonia – (bacterial or viral)
- Myocarditis, pericarditis
- Aseptic meningitis
- Reye’s syndrome
- Guillain-Barré syndrome
- Vaccine: inactivated and live, attenuated (≥ 2 years)
- Now recommended for all children 6 months to 18 years: cardiovascular disease, respiratory disease, e.g. asthma, CF, immunosuppression , sickle-cell disease
Streptococcal Pharyngitis: (Group A Streptococcus)
- Classic Features: Sudden onset of illness, with sore throat, fever, headache and abdominal pain; sore throat may be minor complaint or absent
- More often seen in children 5-10 years of age, year-round incidence with peaks in spring and winter months
- There is often a lack of other respiratory symptoms
- Physical exam varied: oropharynx may be beefy red, petechiae may be present; ± exudate
- Anterior cervical lymph nodes are frequently tender and enlarged
- A scarlatiniform rash may be apparent (scarlet fever)
Streptococcal Pharyngitis (Group A Streptococcus) Complications
- Suppurative: peritonsillar cellulitis or abscess, otitis media, sinusitis, cervical lymphadenitis
- Non-suppurative: rheumatic fever, glomerulonephritis
Streptococcal Pharyngitis (Group A Streptococcus) Diagnosis
- Throat culture and rapid antigen detection test
- Rapid strep tests are specific but lack sensitivity
- no false positives but quite a few false negatives
Other Causes of Pharyngitis
- Corynebacterium diphtheriae
- Arcanobacterium haemolyticum
- Neisseria meningitidis
- groups C streptococci
- Chlamydophila pneumoniae
- Mycoplasma pneumoniae
Viral Causes of Pharyngitis
- Infectious mononucleosis (Epstein Barr Virus): exudative tonsillitis, cervical adenitis, fever, enlarged liver or spleen, atypical lymphocytosis and a positive monospot, monospot frequently negative in children < 5 yrs; rarely distinguishable from other viruses in children
- Herpetic gingivostomatitis; aphthous stomatitis
- Herpangina, hand foot and mouth disease, PFAPA
- Pharyngoconjunctival fever (adenovirus)
- CMV, parainfluenza, RSV, influenza, rhinovirus
Streptococcal Pharyngitis Treatment (Group A Strep)
- Penicillin, amoxicillin, cephalexin or erythromycin
- Children should be treated for 24 hours prior to return to school
- Clindamycin recommended for treatment failures
Paranasal Sinuses Most Commonly Involved in Acute Sinusitis in Children
- Suppurative infection of the paranasal sinuses
- Anatomy and development: maxillary & ethmoid sinuses fully formed at birth; pneumatized at 3-4 years. Sphenoid sinuses not fully formed until 7-8 yrs. Frontal sinuses not fully developed until early teens.
- Ethmoid/maxillary disease most common in children
- Each sinus is drained via ostium which empties into a meatus.
- Obstruction of mucociliary flow, which maintains sterile environment, is the usual trigger for sinusitis.
Acute Sinusitis Predisposing Factors
- Infectious: URI (most common), dental infections
- Inflammatory: allergic rhinitis, vasomotor rhinitis, allergic fungal sinusitis, GERD
- Anatomic: nasal polyps, deviated septum, cleft palate, adenoidal hypertrophy
- Foreign body
- Systemic: immune deficiency, cystic fibrosis, immotile cilia syndrome
Acute Sinusitis Diagnosis
- Sinus x-rays
- CT scan
Bacterial Pathogens of Acute Sinusitis
- Streptococcus pneumoniae (45%)
- Haemophilus influenzae (25%)
- Moraxella catarrhalis (20%)
- no recent studies but likely ↓S. pneumoniae and ↑ of other 2
Bacterial Pathogens of Chronic sinusitis:
- £-hemolytic streptococci
- Staphylococcus aureus
Acute Sinusitis Clinical Presentation
- Adults: headache, facial pain, fever
- Children: (two possible presentations) ≥10 days of nasal congestion, purulent nasal drainage and/or persistent cough; abrupt onset with fever > 101°, facial pain & purulent nasal drainage
Medical Management of Acute Sinusitis
- Mild to moderate disease, no risk factors: amoxicillin low dose/high dose, 10-14 day regimen (or 7 days after symptom resolution)
- PCN allergy: second or third generation cephalosporin OR macrolide
- Severe disease and/or risk factors: Augmentin, cephalosporins (cefprozil, cefuroxime, cefdinir)
- Topical and/or oral decongestant
- Saline irrigation
- Nasal/oral steroids
- Failure to improve after 72hrs suggests complication or resistant microbes. Consider imaging, IM or IV therapy
Acute Sinusitis Complications
- Orbital cellulitis (common presentation/complication of ethmoid sinusitis)
- Epidural or subdural empyema
- Dural sinus thrombosis
- Brain abscess
- Osteomyelitis (complication of frontal sinusitis aka Pott’s puffy tumor). Frontal osteomyelitis secondary to frontal sinusitis; treatment is surgical drainage and IV antibiotic therapy
- Asthma exacerbations
Acute Sinusitis Indications for referral:
- Need for surgical drainage
- Need for polypectomy
- Recurrent sinusitis especially with exacerbation of asthma
- Isolation of rare or resistant microbe as etiology
- Intracranial or orbital complications
- Suspected immunodeficiency
Recurrent or Chronic Sinusitis
- Recurrent: infections clears with antibiotic therapy but recurs with subsequent URIs
- Chronic: prolonged symptoms but no complications
- Imaging warranted
- Treatment: few clear recommendations, prolonged antibiotic regimens: up to 28 days, treat any underlying conditions
- specialist referral: allergy, ENT
Acute otitis media (AOM)
- Suppurative infection of the middle ear space.
- 20% -30% of annual visits to primary care
- Peak incidence between 6 months and 3 years of age (most occur between 6-15 months). This age group accounts for 75% of all infections. Second peak at 5 years
- More common in: young age, bottle-fed infants, winter months
- Other Risk Factors: Certain ethnic groups (Alaskan Natives & Native Americans), Day care attendance, Parental history of ear infections, Parental smoking, Sibling with history of recurrent AOM, Maxillofacial abnormalities, HIV infection, Trisomy 21
Otitis Media with Effusion (OME)
- OM with effusion is the most frequent sequela of acute OM and occurs most frequently in the first 2 years of life.
- Persistent middle ear effusion may last for many weeks or months in some children but usually resolves by 3 months following infection.
- Evaluating young children for this condition is part of all well-child examinations.
- Conductive hearing loss should be assumed to be present with persistent middle ear effusion; the loss is mild to moderate and often is transient or fluctuating.
- The major difficulty is differentiation of acute OM from OM with effusion, which also is referred to as chronic OM.
- Acute OM is accompanied by signs of acute illness, such as fever, pain, and upper respiratory tract inflammation.
- OM with effusion is the presence of effusion without any of the other signs and symptoms.
Pathogenesis of Otitis Media
Pathophysiology: eustachian tube dysfunction creates negative pressure in middle ear allowing reflux of upper respiratory bacterial flora
Common Pathogens of AOM
- H influenzae (up to 33%)
- M. catarrhalis (up to 39%)
- S. pneumoniae (before vaccine~50%) (now down to 28%)
- Group A strep (rare)
- Viral pathogens: RSV, rhinoviruses, CMV, influenza
Clinical Presentation of Otitis Media
- often rapid onset
- pulling at ears
- often follows URI
- bulging, erythematous, immobile TM
- TM may rupture spontaneously
- if associated with conjunctivitis, think of H. influenzae as likely etiologic agent
AOM Treatment: Conservative Approach
- Conservative approach (“watchful waiting”) now recommended for afebrile children ≥ 2 years
- ~80% will clear infection without antibiotics
- oral antibiotics: recommended for febrile children and those < 2 years
- children < 2 are at increased risk of treatment failure, persistent symptoms & recurrent OM
AOM Treatment: Antibiotic Therapy
- Amoxicillin: high dose (HD) now considered standard
- high dose (80-90 mg/kg/d in two divided doses) HD
- concentration in middle ear inhibits 98% of all pneumococcal isolates
- Augmentin: high dose (HD)
- 90 mg/kg/day (of amoxicillin component) in two divided doses
- use ES suspension (600mg/5ml)
- Cefdinir (Omnicef), cefpodoxime (Vantin) or cefuroxime (Ceftin) for mild penicillin allergy
- Clarithromycin (Biaxin) and azithromycin (Zithromax) for severe penicillin allergy
- Caveats: Children < 6 months of age should be treated. Children 6-24 months can have observation if not severely ill. Children ≥ 2 years can have observation if afebrile OR amoxicillin. Amoxicillin for nearly all children should be given at HD. If observations fails after 72 hours use Augmentin-HD. If HD Augmentin fails after 72 hours use IM ceftriaxone x 3 days.
Medical management in penicillin-allergic children
- macrolides problematic but recommended with acknowledgement of therapeutic limitations
- consider clindamycin + sulfisoxazole for moderate to severely ill children
- off-label quinolones have been used
Surgical Management of AOM
- myringotomy/tympanostomy tubes
- indication: bilateral effusion for a total of 3 months and a bilateral hearing deficiency
- use of pneumococcal conjugate vaccine has decreased incidence of surgery for tube placement by 25%
Risk Factors for Penicillin Resistant Streptococcal Pneumonia in OM
- Recurrent treatment with beta-lactam antibiotics
- Recurrent OM
- Day care attendance
- Winter season
- Age younger than 2 years
- hearing loss
- chronic effusion
- Inflammation of the subglottic trachea
- Most common clinical manifestation of acute upper airway obstruction
- Illness generally occurs in children ages 6 months to 3 years
- It is more commonly seen during the winter months
- Males are more predisposed to croup
- Recurrent infections are common
- Family history plays a role
- congenital anomaly
- neoplastic lesion
- bacterial tracheitis
- pharyngeal abscess
- spasmodic croup
- vocal cord paralysis
- subglottic stenosis
- foreign body
- The most common offending agent is one of the parainfluenza viruses (PIVs)
- PIV types 1 and 2 commonly cause outbreaks of croup during the fall of the year
- PIV type 3 can occur sporadically throughout the year
- Other viral causes of croup include influenza, respiratory syncytial virus and human metapneumovirus
Croup Signs and Symptoms
- stridor (intermittent at first but increases as obstruction increases)
- “barking seal” cough
- low-grade fever
- symptoms usually worse at night
Croup Clinical Findings (in addition to hoarseness, barky cough, inspiratory stridor)
- elevated respiratory rate
- rales, rhonchi and wheezing
- X-RAY may show subglottic narrowing of the trachea (“steeple sign”)
- Treatment is supportive but may also include…
- cool mist humidification of the environmental air
- inhaled racemic epinephrine for more severe airway compromise
- IM or po steroids
- Children should be kept calm
- Children with stridor at rest may require hospitalization
- A syndrome of illness related to infection of the smaller bronchi and bronchioles
- Non-specific term for first time wheezing with a viral respiratory infection
- Results from inflammatory obstruction of these airways
- Occurs both sporadically & epidemically
- Young infants at increased risk because of immature immune systems and small airways
- Illness generally occurs in children less than 2 years of age with peak at 2-6 months
- It is more commonly seen during the winter months
- More common in male infants
- Ill family members are source of infection
- Children with underling cardiopulmonary disease or immunodeficiency appear to be at higher risk of more serious disease
- The most common offending agent is respiratory syncytial virus (RSV)
- HMPV (human metapneumovirus) is emerging pathogen
- RSV generally occurs during the winter months and pediatric hospitalizations for bronchiolitis and pneumonia generally peak during the RSV season
- Other etiologies include PIVs 1 &2, influenza virus and select adenoviruses
- Human metapneumovirus (hMPV) “discovered” in 2001. Causes wide spectrum of respiratory disease from mild URIs to severe lower disease requiring hospitalization; accounts for approximately 3% of RIs in immunocompetent adults and ~6% of RIs in children < 5 years. Causes a bronchiolitis in children < 2 years of age that is clinically indistinguishable from RSV. Immunocompromised and frail elderly also at increased risk of more severe hMPV infections.
Bronchiolitis Clinical Presentation (in addition to wheezing, retractions, tachypnea, and rales)
- children usually have accompanying upper respiratory tract infections, sometimes including conjunctivitis and OM
- low-grade fever; irritability with increased WOB
- young babies, in particular those born prematurely, frequently have apneic spells as their presenting manifestation of RSV illness
- X-ray may show hyperinflation, atelectasis and infiltrates
- diagnosis can be made on clinical grounds
- confirmation of an etiologic agent can be made by antigen testing or culture of nasal secretions
- Treatment is supportive
- For less severely ill children the best management includes cool mist humidification of the environmental air
- A pulse oximeter is helpful in assessing the degree of hypoxemia
- Adjunctive therapy may include bronchodilators and corticosteroids for selected children who respond
- Respiratory support may be needed in severe cases
- supplemental oxygen
- ribavirin no longer used for RSV infection
- in high-risk* infants prophylaxis with Synagis or RSV immune globulin is recommended
- nebulized epinephrine and nebulized ipratropium bromide may be helpful
- * <2 yrs with CLD; preterm (28 -32wks) during first RSV season; preterm (32-35wks) with risk factors: daycare, school-aged siblings, abnormal airways, smoke exposure
Compare and contrast viral and bacterial pneumonias in children. Which is more common?
- A syndrome of illness related to infection of the smaller airways and parenchyma with consolidation of alveolar spaces
- Signs and symptoms include: increased respiratory rate, decreased breath sounds, dullness to percussion, rales or fine crackles, fever, high with bacterial etiology
- ETIOLOGY: viral and bacterial
- fungal (Aspergillus, Histoplasma) and parasitic (Pneumocystis) etiologies not uncommon in children who are immunocompromised
- the most common etiologies of pneumonia in children are age dependent
- Less common causes: Chlamydia trachomatis, M. hominis, U. urealyticum and CMV can cause an afebrile pneumonia in children ages 2 weeks to 3 months. Tuberculosis must also be remembered at all ages. Pertussis may cause pneumonia particularly in unimmunized or incompletely immunized children
- Risk factors: congenital heart and/or lung disease, cystic fibrosis, asthma, sickle cell disease. immunodeficiency syndromes
- Clinical findings of Bacterial pneumonia: age plays important role in symptomatology as well, Neonates may have fever without focal findings. Older infants and children have a rapid onset of illness with cough, dyspnea, tachypnea, grunting respirations and retractions. They are often toxic-appearing with a temperature > 39°C
Bacterial Pneumonia < 1 month of age
- Children under 2 weeks of age are somewhat more likely to have bacterial pneumonia
- The most common causes of bacterial pneumonia for children under 1 month of age include: Group B streptococci, Staphylococcus aureus, gram negative enteric bacilli, T. pallidum, Listeria
Bacterial Pneumonia from 1 month - 5 years
- The most common cause of bacterial pneumonia after 1 month of age is Streptococcus pneumoniae
- Other etiologies: H. influenzae (both type B and non-typeable strains), Group A streptococci, S. aureus (including MRSA), Mycoplasma pneumoniae, Chlamydophila pneumoniae
Bacterial Pneumonia > 5 years
- In children over 5 years of age Mycoplasma pneumoniae is the most common cause of pneumonia
- Streptococcus pneumoniae and Chlamydophila can also cause pneumonia in this age group
- Consider M. tuberculosis in all pediatric patients, especially those from countries where this infection is endemic
Viral Pneumonia in Children
- Overall viruses are the most common offending agents; especially in children < 5 years
- Viral causes of pneumonia in children include: RSV, PIVs, Influenza, Adenovirus
- In neonates: consider CMV, Herpes, rubella
Laboratory Evaluation/Imaging for Bacterial pneumonia
- Chest x-ray shows segmental infiltrates, atelectasis and sometimes pleural effusions. Empyema may result
- The white blood cell count may be elevated in bacterial pneumonia with a predominance of polymorphonuclear
- Blood cultures are positive in 10-30% of children with a bacterial pneumonia
Laboratory Evaluation/Imaging for Viral pneumonia
- WBC normal (or slightly elevated) in viral pneumonia with a predominance of lymphocytes
- Chest x-ray shows diffuse interstitial infiltrates, increased interstitial markings and hyperinflation
- Rapid antigen detection tests may be useful
Bacterial Pneumonia Treatment
- Therapy is usually presumptive without a known pathogen
- Cover for atypicals and S. pneumoniae
- If pathogen is known, direct therapy towards specific pathogen
- Be aware of drug-resistance of Streptococcus pneumoniae in your community
- Birth to 1mo: (inpatient) amp + gent ± cefotaxime
- 1mo to 3mo: (outpatient) erythromycin or azithromycin. (inpatient) erythromycin or azithromycin (+ cefotaxime)
- 3mo to 5yrs: (outpatient) amoxicillin 100mg/kg/d + clarithro OR azithro. (inpatient) cefotaxime or ceftriaxone ICU, ampicillin (non-ICU)
- > 5yrs: (outpatient) amoxicillin 100mg/kg/d + clarithro OR azithro. (inpatient) amoxicillin 100mg/kg/d + doxy (>8yrs) OR erythro
Viral Pneumonia Treatment
- Treatment is supportive
- A pulse oximeter is helpful in assessing the degree of hypoxemia.
- Hypoxemic children should be treated with oxygen
- Respiratory support may be needed in severe cases
- Supportive: depending on etiology nebulized albuterol, ipratropium or epinephrine may be beneficial ± steroids
- Amantadine or rimantadine may be used for patients with primary influenza A pneumonia
Clinical Presentation of Infectious Mononucleosis
- The characteristic triad of EBV infectious mononucleosis is fever, pharyngitis, and lymphadenopathy.
- The pharynx shows enlarged tonsils and exudate and sometimes an enanthem with pharyngeal petechiae.
- Lymphadenopathy is most prominent in the anterior and posterior cervical and submandibular lymph nodes and less commonly involves axillary and inguinal lymph nodes.
- Other findings include splenomegaly in 50% of cases, hepatomegaly in 10% to 20%, and maculopapular or urticarial rash in 5% to 15%.
- A diffuse, erythematous rash develops in approximately 80% of patients with infectious mononucleosis treated with oral ampicillin, known as ampicillin rash.
- Compared with EBV infection, infectious mononucleosis-like illness caused by CMV has minimal pharyngitis and often more prominent splenomegaly; it often presents only with fever.
- The most common manifestation of toxoplasmosis is asymptomatic cervical lymphadenopathy, but approximately 10% of cases of acquired toxoplasmosis develop chronic posterior cervical lymphadenopathy and fatigue, usually without significant fever.
- EBV and CMV are ubiquitous, with most infections occurring in young children, who may often be asymptomatic or only mildly symptomatic.
Infectious Mononucleosis Etiologic Agent
- EBV is the primary cause of infectious mononucleosis, a clinical syndrome characterized by fever, fatigue and malaise, cervical or generalized lymphadenopathy, tonsillitis, and pharyngitis.
- EBV, a member of the herpesvirus family, infects B lymphocytes and is spread by salivary secretions.
- After primary infection, EBV is maintained latently in multiple episomes in the cell nucleus of resting B lymphocytes and establishes lifelong infection that remains clinically inapparent.
- Most persons shed EBV intermittently, with approximately 20% of healthy individuals shedding EBV at any given time.
- Cytomegalovirus (CMV), Toxoplasma gondii, adenoviruses, hepatitis B virus, hepatitis C virus, and initial human immunodeficiency virus (HIV) infection, known as acute retroviral syndrome, can cause an infectious mononucleosis-like syndrome with lymphadenopathy.
Laboratory Procedures Utilized in the Diagnosis of Infectious Mononucleosis
- Initial laboratory tests of regional lymphadenopathy include a complete blood count and an erythrocyte sedimentation rate.
- Infectious mononucleosis is characterized by a lymphocytosis with atypical lymphocytes.
- Thrombocytopenia and elevated hepatic enzymes are common with EBV disease.
Infectious Mononucleosis Treatment
There is no specific treatment for infectious mononucleosis
- “Whooping cough”
- strictly human disease; etiologic agent is Bordetella pertussis
- infection in infants has increased steadily since the 1980s
- incubation period is 6 days
- clinical disease has 3 stages that last ~8 weeks
- catarrhal stage: low grade fever, runny nose
- paroxysmal stage: cough with inspirational “whoop”
- convalescent stage: gradual symptom resolution
- The peak incidence of pertussis in infants in the US occurs in those less than 4 months of age. immunization not completed. at risk for most severe complications
- Infants are most likely to have atypical symptoms. Apneic spells are most common
- Diagnosis: culture, PCR, fluorescent antibody staining
- Laboratory: ↑ WBC with lymphocytosis
- CXR: segmental atelectasis, perihilar infiltrates
- Treatment: macrolides, azithromycin in neonates
Pediatric CV History
- The focus of the cardiovascular history depends on patient's age and is directed by the chief complaint.
- The prenatal history may reveal a maternal infection early in pregnancy (possibly teratogenic) or later in pregnancy (causing myocarditis or myocardial dysfunction in infants).
- A maternal history of medication, drug, or alcohol use or excessive smoking may contribute to cardiac and other systemic findings.
- While growth is a valuable sign of cardiovascular health, the birth weight is an indicator of the prenatal health of the fetus and the mother.
- Infants with heart failure grow poorly, with weight being more significantly affected than height and head circumference.
- Heart failure may present with fatigue or diaphoresis with feeds or fussiness.
- Feeding may be difficult and prolonged because of tachypnea.
- Tachypnea without significant dyspnea may be present.
- Older children with heart failure may have easy fatigability, shortness of breath on exertion, and sometimes orthopnea.
- Exercise intolerance may be determined by asking how well children keep up while playing or exercising.
- Patients may have been misdiagnosed with recurrent pneumonia, bronchitis, wheezing, or asthma before heart failure is recognized.
- A history of a heart murmur is important, but many well children have an innocent murmur at some time in their lives.
- Other cardiac symptoms include cyanosis, palpitations, chest pain, syncope, and near-syncope.
- A review of systems assesses for possible systemic diseases or congenital malformation syndromes that may cause cardiac abnormalities.
- Current and past medication use as well as history of drug use, is important.
- Family history should be reviewed for hereditary diseases, early atherosclerotic heart disease, congenital heart disease, sudden unexplained deaths, thrombophilia, rheumatic fever, hypertension, and hypercholesterolemia.
Pediatric CV Physical Examination
- A complete cardiovascular examination starts in the supine position and includes evaluation in sitting and standing positions when possible.
- Much information regarding the cardiovascular status can be gained by inspection, which is supplemented by palpation and auscultation.
- The examination starts with vital signs.
- The normal heart rate varies with age and activity.
- Newborn resting heart rates are approximately120 beats/minute.
- It is slightly higher in infants 3 to 6 months of age and then gradually declines through adolescence when the average resting rate is near 80 beats/minute.
- The range of normal for any given age is relatively wide, approximately 30 beats/minute above or below the average.
- Tachycardia may be a manifestation of anemia, dehydration, shock, heart failure, or dysrhythmia.
- Bradycardia can be a normal finding in patient with high vagal tone (athletes), but may be a manifestation of atrioventricular block.
- The respiratory rate of infants is best assessed while observing the infant sitting quietly with the parent.
- Respiratory rate may be increased when there is a left-to-right shunt or pulmonary venous congestion.
- Normal blood pressure also varies with age. A properly sized cuff, needed to obtain reliable information, should have a bladder width that is at least 90% of the arm circumference and a length that is 80% to 100% of the arm circumference.
- Initially, blood pressure in the right arm is measured. If elevated, measurements in the left arm and legs are indicated to evaluate for possible coarctation of the aorta.
- The pulse pressure is determined by subtracting the diastolic pressure from the systolic pressure. It is normally below 50 mm Hg or half the systolic pressure, whichever is less.
- A wide pulse pressure may be seen with aortopulmonary connections (patent ductus arteriosus [PDA], truncus arteriosus, arteriovenous malformations), aortic insufficiency, or relative intravascular volume depletion (anemia, vasodilation with fever or sepsis).
- A narrow pulse pressure is seen with pericardial tamponade, aortic stenosis, and heart failure.
- Inspection includes general appearance, nutritional status, circulation, and respiratory effort.
- Many chromosomal abnormalities and syndromes associated with cardiac defects have dysmorphic features or failure to thrive.
- Skin color must be assessed for cyanosis and pallor.
- Central cyanosis (tongue, lips) is associated with arterial desaturation; isolated peripheral cyanosis (hands, feet) is associated with normal arterial saturation and increased peripheral extraction of oxygen.
- Perioral cyanosis is a common finding, especially in pale infants or when infants and toddlers become cold.
- Chronic arterial desaturation results in clubbing of the fingernails and toenails.
- Inspection of the chest may reveal asymmetry or a prominent left precordium suggesting chronic cardiac enlargement.
- After inspection, palpation of pulses in all four extremities, the precordial activity, and the abdomen is performed.
- Pulses are assessed for rate, regularity, intensity, symmetry, and timing between upper and lower extremities.
- A good pedal pulse with normal right arm blood pressure effectively rules out coarctation of the aorta.
- Precordial palpation may suggest significant cardiovascular disease in the absence of obvious auscultatory findings.
- The precordium should be assessed for apical impulse, point of maximum impulse, hyperactivity, and presence of a thrill.
- Abdominal palpation assesses liver and spleen size.
- The liver size provides an assessment of intravascular volume and is enlarged with systemic venous congestion.
- The spleen may be enlarged with infective endocarditis.
- Auscultation is the most important part of the cardiovascular examination, but should supplement what already has been found by inspection and palpation.
- Systematic listening in a quiet room allows assessment of each portion of the cardiac cycle.
- In addition to heart rate and regularity, the heart sounds, clicks, and murmurs need to be timed and characterized.
Systemic Diseases and Cardiac Complications
- Hunter-Hurler syndrome: Valvular insufficiency, heart failure, hypertension
- Fabry disease: Mitral insufficiency, coronary artery disease with myocardial infarction
- Pompe disease: Short PR interval, cardiomegaly, heart failure, arrhythmias
- Friedreich ataxia: Cardiomyopathy, arrhythmias
- Duchenne dystrophy: Cardiomyopathy, heart failure
- Juvenile rheumatoid arthritis: Pericarditis
- Systemic lupus erythematosus: Pericarditis, Libman-Sacks endocarditis, congenital AV block
- Marfan syndrome: Aortic and mitral insufficiency, dissecting aortic aneurysm
- Homocystinuria: Coronary thrombosis
- Kawasaki disease: Coronary artery aneurysm, thrombosis, myocardial infarction, myocarditis
- Lyme disease: Arrhythmias, myocarditis, heart failure
- Graves disease (hyperthyroidism): Tachycardia, arrhythmias, heart failure
- Tuberous sclerosis: Cardiac rhabdomyoma
- Neurofibromatosis: Pulmonic stenosis, coarctation of aorta
Syndromes and Cardiac Features
- Trisomy 21 (Down syndrome): Endocardial cushion defect, VSD, ASD, PDA
- Trisomy 18: VSD, ASD, PDA, PS
- Trisomy 13: VSD, ASD, PDA, dextrocardia
- XO (Turner syndrome): Coarctation of aorta, aortic stenosis
- CHARGE association (Coloboma, Heart, Atresia Choanae, Retardation, Genital and Ear anomalies): TOF, aortic arch and conotruncal anomalies
- 22q11 (DiGeorge) syndrome: Aortic arch anomalies, conotruncal anomalies
- VACTERL association (Vertebral, Anal, Cardiac, Tracheoesophageal, Radial, Renal, Limb anomalies) :
- Congenital rubella: PDA, peripheral pulmonic stenosis, mitral regurgitation (in infancy)
- Marfan syndrome: Dilated and dissecting aorta, aortic valve regurgitation, mitral valve prolapse
- Williams syndrome: Supravalvular aortic stenosis, peripheral pulmonary stenosis
- Infant of diabetic mother: Hypertrophic cardiomyopathy, VSD, conotruncal anomalies
- Holt-Oram syndrome: ASD, VSD
- Asplenia syndrome: Complex cyanotic heart lesions, anomalous pulmonary venous return, dextrocardia, single ventricle, single AV valve
- Polysplenia syndrome: Azygos continuation of inferior vena cava, pulmonary atresia, dextrocardia, single ventricle
- Fetal alcohol syndrome: VSD, ASD
- Ellis-van Creveld syndrome: Single atrium
- Zellweger syndrome: PDA, VSD, ASD
- Fetal hydantoin syndrome: TGA, VSD, TOF
- S1 is associated with closure of the mitral and tricuspid valves, is usually single, and is best heard at the lower left sternal border (LLSB) or apex.
- Although it can normally be split, if a split S1 is heard, the possibility of an ejection click or, much less commonly, an S4 should be considered. S2 is associated with closure of the aortic and pulmonary valves.
- It should normally split with inspiration and be single with exhalation.
- Abnormalities of splitting and intensity of the pulmonary component are associated with significant anatomic and physiologic abnormalities.
- S3 is heard in early diastole and is related to rapid ventricular filling.
- It is best heard at the LLSB or apex and may be a normal sound.
- A loud S3 is abnormal and heard in conditions with dilated ventricles.
- S4 occurs late in diastole just before S1, is best heard at the LLSB/apex, and is associated with decreased ventricular compliance. It is rare and is always abnormal.
- SINGLE S2: Pulmonary hypertension (severe). One semilunar valve (aortic atresia, pulmonary atresia, truncus arteriosus). Malposed great arteries (d-TGA, l-TGA). Severe aortic stenosis
- WIDELY SPLIT S2: Increased flow across valve (ASD, PAPVR). Prolonged flow across valve (pulmonary stenosis). Electrical delay (right bundle branch block). Early aortic closure (severe mitral regurgitation)
- PARADOXICALLY SPLIT S2: Severe aortic stenosis
- ABNORMAL INTENSITY OF P2: Increased in pulmonary hypertension. Decreased in severe pulmonary stenosis, tetralogy of Fallot
- A click implies a valvular abnormality or dilated great artery.
- It may be ejection or midsystolic in timing and may or may not be associated with a murmur.
- A midsystolic click is associated with mitral valve prolapse.
- Ejection clicks occur early in systole.
- Pulmonary ejection clicks are best heard at the left upper sternal border and vary in intensity with respiration.
- Aortic clicks are often louder at the apex, left midsternal border, or right upper sternal border and do not vary with respiration.
- Murmur evaluation should determine timing, duration, location, intensity, radiation, and frequency or pitch of the murmur.
- The timing is most important in determining a murmur's significance and can be used to develop a differential diagnosis and determine the need for further evaluation.
- Murmurs should be classified as systolic, diastolic, or continuous.
- Most murmurs are systolic and can be divided further into systolic ejection murmurs or holosystolic (also called pansystolic or regurgitant) murmurs.
- Ejection murmurs are crescendo-decrescendo with a short time between S1 and the onset of the murmur (isovolumic contraction).
- Systolic ejection murmurs require the ejection of blood from the ventricle and may occur with aortic stenosis, pulmonary stenosis, atrial septal defects (ASDs), and coarctation of the aorta.
- A late regurgitant murmur may be heard after a midsystolic click in mitral valve prolapse.
- Murmurs are often heard along the path of blood flow.
- Ejection murmurs usually are best heard at the base of the heart, whereas holosystolic murmurs are louder at the LLSB and apex.
- Pulmonary ejection murmurs radiate to the back and axilla.
- Aortic ejection murmurs radiate to the neck.
Murmur Intensity and Frequency
- The intensity or loudness of a heart murmur is assessed as grade I through VI.
- The frequency or pitch of a murmur provides information regarding the pressure gradient.
- The higher the pressure gradient across a narrowed area (valve, vessel, or defect), the faster the flow and higher the frequency of the murmur. Low-frequency murmurs imply low pressure gradients and mild obstruction or less restriction to flow.
- Holosystolic murmurs have their onset with S1.
- The murmur has a plateau quality and may be heard with ventricular septal defects (VSDs) and mitral or tricuspid regurgitation.
- Diastolic murmurs are much less common than systolic murmurs, and should be considered abnormal.
- Early diastolic murmurs occur when there is regurgitation through the aortic or pulmonary valve.
- Mid-diastolic murmurs are caused by increased flow (ASD, VSD) or anatomic stenosis across the mitral or tricuspid valves.
- Continuous murmurs are heard when there is flow through the entire cardiac cycle and are abnormal with one common exception, the venous hum.
- A PDA is the most common abnormal continuous murmur.
- Continuous murmurs can also be heard with coarctation of the aorta when collateral vessels are present.
- Normal physiologic or innocent murmurs are common, occurring in at least 80% of normal infants and children.
- They have also been called benign, functional, vibratory, and flow murmurs.
- These normal murmurs are heard most often during the first 6 months of life, from 3 to 6 years of age, and in early adolescence.
- Characteristic findings of innocent murmurs include the quality of the sound, lack of significant radiation, and significant alteration in the intensity of the murmur with positional changes.
- Most important, the cardiovascular history and examination are otherwise normal.
- The presence of symptoms, including failure to thrive or dysmorphic features should make one more cautious about diagnosing a normal murmur.
- Diastolic, holosystolic, late systolic, and continuous (except for the venous hum) murmurs and the presence of a thrill are not normal.
- Grade I: Very soft, heard in quiet room with cooperative patient
- Grade II: Easily heard but not loud
- Grade III: Loud but no thrill
- Grade IV: Loud with palpable thrill
- Grade V: Loud with thrill, audible with stethoscope at 45-degree angle
- Grade VI: Loud with thrill, audible with stethoscope off chest 1 cm
Still's Murmur/Vibratory Murmur
- Systolic ejection murmur
- LLSB or between LLSB and Apex
- Grades I-III/VI
- Vibratory, musical quality
- Intensity decreases in upright position
- Usually diagnosed at 3-6yrs
- Continuous murmur
- Infraclavicular region (R > L)
- Grades I-III/VI
- Louder with patient in upright position
- Changes with compression of jugular vein or turning head
- May be diagnosed at any age.
- Systolic ejection murmur
- Neck, over carotid artery
- Grade Is-III/VI
- May be diagnosed at any age.
Adolescent Ejection Murmur
- Systolic ejection murmur
- Grades I-III/VI
- Usually softer in upright position
- Does not radiate to back
- Usually diagnosed at 8-14yo
Peripheral Pulmonary Stenosis
- Systolic ejection murmur
- Axilla and back, LUSB/RUSB
- Grades I-II/VI
- Harsh, short, high frequency
- Usually diagnosed from newborn to 6mo
- A criterion for right atrial enlargement is an increase of the amplitude of the P wave, reflected best in lead II.
- The diagnosis of left atrial enlargement is made by prolongation of the second portion of the P wave, exhibited best in the chest leads.
- The PR interval increases with age. Conduction time is shortened when the conduction velocity is increased (glycogen storage disease) or when the atrioventricular node is bypassed (Wolff-Parkinson-White syndrome). A prolonged PR interval usually indicates slow conduction through the atrioventricular node. Diseases in the atrial myocardium, bundle of His, or Purkinje system may also contribute to prolonged PR intervals.
- A greater ventricular volume or mass causes a greater magnitude of the QRS complex. The proximity of the right ventricle to the chest surface accentuates that ventricle's contribution to the complex.
- Changes in the normal ECG occur with age. Normative data for each age group must be known to make a diagnosis from the ECG.
- The corrected QT interval (corrected for rate) should be less than 0.45 second. The interval may be prolonged in children with hypocalcemia or severe hypokalemia. It is also prolonged in a group of children at risk for severe ventricular arrhythmias and sudden death (prolonged QT syndrome). Drugs such as quinidine and erythromycin may prolong the QT interval.
- Mild desaturation that is not clinically apparent may be the only early finding in complex congenital heart defects.
- Comparing pulse oximetry between the right arm and a lower extremity may allow diagnosis of a ductal dependent lesion in which desaturated blood flows right to left across a PDA to perfuse the lower body.
- Abnormalities of the thoracic skeleton, diaphragms, lungs, or upper abdomen may be associated with congenital heart defects.
- Assessment of the location and size of the heart and cardiac silhouette may suggest a cardiac defect.
- On a good inspiratory film, the cardiothoracic ratio should be less than 55% in infants under 1 year of age and less than 50% in older children and adolescents.
- An enlarged heart may be due to an increased volume load (left-right shunt) or due to myocardial dysfunction (dilated cardiomyopathy).
- A normal heart size virtually rules out heart failure; however, a large heart is not diagnostic of heart failure.
- The shape of the heart may suggest specific congenital heart defects.
- The most common examples are the boot-shaped heart seen with tetralogy of Fallot, the egg-on-a-string seen with dextroposed transposition of the great arteries, and the "snowman" seen with supracardiac total anomalous pulmonary venous return.
- The chest x-ray can aid in the assessment of pulmonary blood flow.
- Defects associated with left-to-right shunting have increased pulmonary blood flow (shunt vascularity) on x-ray.
- Right-to-left shunts have decreased pulmonary blood flow.
- Echocardiography has become the most important noninvasive tool in the diagnosis and management of cardiac disease.
- Prenatal or fetal echocardiography can diagnose congenital heart disease by 18 weeks of gestation and allows for delivery of the infant at a tertiary care hospital, improving the timeliness of therapy.
- Transesophageal echocardiography (TEE) provides better imaging when transthoracic imaging is inadequate. It is used intraoperatively to assess results and cardiac function after surgery. TEE and intracardiac echocardiography are used to guide interventional catheterization and radiofrequency ablation of dysrhythmias.
- Cardiac catheterization is performed in patients who need additional anatomic information or precise hemodynamic information before operating or establishing a management plan.
- Pressures, oxygen saturations, and oxygen content are measured in each chamber and blood vessel entered. This information is used to calculate systemic and pulmonary blood flow and systemic and pulmonary vascular resistance.
- Angiography is performed by injecting contrast material into selected sites to define anatomy and supplement noninvasive information.
- An increasing percentage of cardiac catheterizations are done to perform an intervention including balloon dilation of stenotic valves and vessels, ballooning and stenting of stenotic lesions, closure of collateral vessels by coil embolization, and device closure of PDAs, secundum ASDs, patent foramen ovales, and muscular VSDs.
- Catheterization with electrophysiologic studies allows for precise mapping of the electrical activity, can assess the risk of abnormal heart rhythms, and often are done in anticipation of radiofrequency ablation.
- Radiofrequency ablation alters the site of a dysrhythmia so that it no longer can cause the dysrhythmia.
Anatomy and Physiology of the Prenatal and Neonatal Circulation
- The transition from fetal to neonatal physiology occurs at birth.
- Oxygen transport across the placenta results in a gradient between the maternal and fetal PaO2.
- The oxygen content of fetal blood is almost equal to the oxygen content in older infants and children because fetal blood has a much higher concentration of hemoglobin.
- Fetal hemoglobin (two alpha and two gamma chains) has a higher affinity for oxygen than adult hemoglobin, facilitating oxygen transfer across the placenta.
- A portion of well-oxygenated umbilical venous blood returning to the heart from the placenta perfuses the liver.
- The remainder bypasses the liver through a shunt (the ductus venosus) and enters the inferior vena cava.
- This oxygenated blood in the vena cava constitutes 65% to 70% of venous return to the right atrium.
- Venous return from the upper body combines with the remaining two thirds of the vena caval blood in the right atrium and is directed to the right ventricle.
- This mixture of venous low-oxygenated blood from the upper and lower body enters the pulmonary artery.
- Only 8% to 10% of it is pumped to the pulmonary circuit; the remaining 80% to 92% of the right ventricular output bypasses the lungs through a patent ductus arteriosus and enters the descending aorta.
- The amount of blood flowing to the pulmonary system is low because vasoconstriction produced by medial muscle hypertrophy of the pulmonary arterioles and fluid in the fetal lung increases resistance to blood flow.
- Pulmonary artery tone also responds to hypoxia, hypercapnia, and acidosis with vasoconstriction, a response that may increase pulmonary vascular resistance further.
- The ductus arteriosus remains patent in the fetus because of low PaO2 levels and dilating prostaglandins.
- In utero, the right ventricle is the dominant ventricle, pumping 65% of the combined ventricular output, which is a high volume (450 mL/kg/min) compared with that pumped by an older infant's right ventricle (200 mL/kg/min).
- The transition of the circulation occurring between the fetal and neonatal periods involves the removal of the low-resistance circulation of the placenta, the onset of breathing, reduction of pulmonary arterial resistance, and closure of in utero shunts.
- Clamping the umbilical cord eliminates the low-pressure system of the placenta and increases systemic blood pressure.
- Decreased venous return from the placenta decreases right atrial pressure.
- As breathing begins, air replaces lung fluid, maintaining the functional residual capacity.
- Fluid leaves the lung, in part, through the trachea; it is either swallowed or squeezed out during vaginal delivery. The pulmonary lymphatic and venous systems reabsorb the remaining fluid.
- Most normal infants require little pressure to spontaneously open the lungs after birth (5 to 10 cm H2O).
- With the onset of breathing, pulmonary vascular resistance decreases, partly a result of the mechanics of breathing and partly a result of the elevated arterial oxygen tensions.
- The increased blood flow to the lungs increases the volume of pulmonary venous blood returning to the left atrium; left atrial pressure now exceeds right atrial pressure, and the foramen ovale closes.
- As the flow through the pulmonary circulation increases and arterial oxygen tensions rise, the ductus arteriosus begins to constrict.
- In a term infant, this constriction functionally closes the ductus arteriosus within 1 day after birth.
- A permanent closure requires thrombosis and fibrosis, a process that may take several weeks.
- In a premature infant, the ductus arteriosus is less sensitive to the effects of oxygen; if circulating levels of vasodilating prostaglandins are elevated, the ductus arteriosus may remain patent.
- This patency is a common problem in a premature infant with respiratory distress syndrome.
- Ventilation, oxygenation, and normal pH and PCO2 levels immediately reduce pulmonary artery vasoconstriction by causing smooth muscle relaxation.
- Remodeling of the medial muscle hypertrophy begins at birth and continues for the next 3 months, resulting in a further reduction of pulmonary vascular resistance and a further increase of pulmonary blood flow.
- Persistence or aggravation of pulmonary vasoconstriction caused by acidosis, hypoxia, hypercapnia, hypothermia, polycythemia, asphyxia, shunting of blood from the lungs, or pulmonary parenchymal hypoplasia results in persistent pulmonary hypertension of the newborn (PPHN).
- Failure to replace pulmonary alveolar fluid completely with air can lead to respiratory distress (transient tachypnea of the newborn).
Heart Disease and Syncope
- Syncope is the transient loss of consciousness and muscle tone that, by history, does not suggest other altered states of consciousness.
- Presyncope or near-syncope has many or all of the prodromal symptoms without loss of consciousness.
- Syncope is relatively common.
- The frequency of episodes, amount of stress, and functional impairment caused by syncope vary.
- Most syncopal events are relatively benign, but can represent a serious cardiac condition that may lead to death.
- Typical syncopal events usually occur in the upright position or are related to changing position.
- Syncope may be associated with anxiety, pain, blood drawing or the sight of blood, fasting, a hot environment, or crowded places.
- The patient often appears pale.
- A prodrome, consisting of dizziness, lightheadedness, nausea, diaphoresis, visual changes (blacking out), or possibly palpitations, warns the patient and often prevents injury.
- Unconsciousness lasts for less than 1 minute.
- A return to normal consciousness occurs relatively quickly.
- Most of these syncopal episodes are vasovagal or neurocardiogenic in origin.
- The physical examination is normal.
- Depending on the number, frequency, and amount of functional impairment, syncopal episodes may require no more than reassurance to the patient and family.
- If the episodes have a significant impact on daily activities, further evaluation may be indicated.
- An electrocardiogram (ECG) should be obtained with attention to the QTc and PR intervals.
- Although reassurance and increasing fluid and salt intake may be adequate to treat most cases of syncope, medical management is sometimes indicated.
Heart Disease and Chest Pain
- Although chest pain is rarely cardiac in origin in children, common knowledge about atherosclerotic heart disease raises concerns about a child experiencing chest pain.
- Most diagnosable chest pain in childhood is musculoskeletal in origin.
- Assessment of a patient with chest pain includes a thorough history to determine activity at the onset; the location, radiation, quality, and duration of the pain; what makes the pain better and worse during the time that it is present; and any associated symptoms.
- A family history and assessment of how much anxiety the symptom is causing are important and often revealing.
- Although the history alone often determines the etiology, a careful general physical examination should focus on the chest wall, heart, lungs, and abdomen.
- A history of chest pain associated with exertion, syncope, or palpitations, or acute onset associated with fever suggests a cardiac etiology.
- Cardiac causes of chest pain are generally ischemic, inflammatory, or arrhythmic in origin.
- Tests rarely are indicated based on the history.
- A chest x-ray, electrocardiogram (ECG), 24-hour Holter monitoring, echocardiogram, and exercise stress testing may be obtained based on history and examination.
- Referral to a pediatric cardiologist is based on the history, physical examination findings, family history, and frequently the level of anxiety in the patient or family members regarding the pain.
Heart Disease and Dysrhythmias
- Cardiac dysrhythmias or abnormal heart rhythms are uncommon in pediatrics, but may be caused by infection and inflammation, structural lesions, metabolic abnormalities, and intrinsic conduction abnormalities.
- Many pediatric dysrhythmias are normal variants that do not require treatment or even further evaluation.
- Sinus rhythm originates in the sinus node and has a normal axis P wave (upright in leads I and AVF) preceding each QRS complex.
- Because normal rates vary with age, sinus bradycardia and sinus tachycardia are defined based on age.
- Sinus arrhythmia is a common finding in children and represents a normal variation in the heart rate associated with breathing.
- The heart rate increases with inspiration and decreases with expiration, producing a recurring pattern on the electrocardiogram (ECG) tracing.
- Sinus arrhythmia does not require further evaluation or treatment.
- A wandering atrial pacemaker is a change in the morphology of the P waves with variable PR interval and normal QRS complex. This is a benign finding, requiring no further evaluation or treatment.
- Premature atrial contractions are relatively common prenatally and in infants. A premature P wave, usually with an abnormal axis consistent with its ectopic origin, is present. The premature atrial activity may be blocked (no QRS following it), conducted normally (normal QRS present), or conducted aberrantly (a widened, altered QRS complex). Premature atrial contractions are usually benign and, if present around the time of delivery, often disappear during the first few weeks of life.
- Atrial flutter and atrial fibrillation are uncommon dysrhythmias in pediatrics and usually present after surgical repair of complex congenital heart disease. They may also be seen in patients with myocarditis or in association with drug toxicity
- Supraventricular tachycardia (SVT) is the most common symptomatic dysrhythmia in pediatric patients. The rhythm has a rapid, regular rate with a narrow QRS complex. SVT in infants is often 280 to 300 beats/minute with slower rates for older children and adolescents. The tachycardia has an abrupt onset and termination. In a child with a structurally normal heart, most episodes are relatively asymptomatic other than a pounding heart beat. If there is structural heart disease or the episode is prolonged (>12 hours), there may be alteration in the cardiac output and development of symptoms of heart failure. Although most patients with SVT have structurally normal hearts and normal baseline ECGs, some children have Wolff-Parkinson-White syndrome or pre-excitation as the cause of the dysrhythmia.
- Premature ventricular contractions (PVCs) are less common than premature atrial contractions in infancy but more common in older children and adolescents. The premature beat is not preceded by a P wave and the QRS complex is wide and bizarre.
- If the heart is structurally normal, and the PVCs are singleton, uniform in focus, and disappear with increased heart rate, the PVCs are usually benign and require no treatment. Any deviation from the presentation (history of syncope or a family history of sudden death) requires further investigation and possibly treatment with antiarrhythmic medications
- Ventricular tachycardia, defined as three or more consecutive PVCs, is also relatively rare in pediatric patients. Although there are multiple causes of ventricular tachycardia, it usually is a sign of serious cardiac dysfunction or disease. Rapid rate ventricular tachycardia results in decreased cardiac output and cardiovascular instability. Treatment in symptomatic patients is synchronized cardioversion. Medical management with lidocaine or amiodarone may be appropriate in a conscious asymptomatic patient. Complete evaluation of the etiologic picture is necessary, including electrophysiologic study.
- First-degree heart block is the presence of a prolonged PR interval. It is asymptomatic and when present in otherwise normal children requires no evaluation or treatment.
- Second-degree heart block is when some, but not all, of the P waves are followed by a QRS complex. Mobitz type I (also known as Wenckebach) is characterized by a progressive prolongation of the PR interval until a QRS complex is dropped. It is often seen during sleep, usually does not progress to other forms of heart block, and does not require further evaluation or treatment in otherwise normal children. Mobitz type II is present when the PR interval does not change, but a QRS is intermittently dropped. This form may progress to complete heart block and may require pacemaker placement.
- Third-degree heart block, whether congenital or acquired, is present when there is no relationship between atrial and ventricular activity. The ventricular rate is much slower than the atrial rate.
- Congenital complete heart block is associated with maternal collagen vascular disease (systemic lupus erythematosus) or congenital heart disease. The acquired form most often occurs after cardiac surgery, but may be secondary to infection, inflammation, or drugs.
- Most atrial dysrhythmias require no intervention. Treatment of SVT depends on presentation and symptoms.
- Acute treatment of SVT in infants usually consists of vagal maneuvers, such as application of cold (ice bag) to the face.
- Intravenous (IV) adenosine usually converts the dysrhythmia because the atrioventricular node forms a part of the reentry circuit in most patients with SVT.
- In patients with cardiovascular compromise at the time of presentation, synchronized cardioversion is indicated using 1 to 2 J/kg.
- In patients with palpitations, it is important to document heart rate and rhythm during their symptoms before considering therapeutic options.
- The frequency, length, and associated symptoms during the episodes, as well as what is required to convert the rhythm, determine the need for treatment.
- Some patients require only education regarding the dysrhythmia and follow-up.
- Ongoing pharmacologic management with either digoxin or a β-blocker is usually the first choice.
- Digoxin is contraindicated in patients with Wolff-Parkinson-White syndrome.
- Additional antiarrhythmic medications rarely may be needed.
- In patients who are symptomatic or those not wanting to take daily medications, radiofrequency ablation may be performed
- A variety of antiarrhythmic agents are used to treat ventricular dysrhythmias that require intervention.
- Management of third-degree heart block depends on the ventricular rate and presence of symptoms. Treatment, if needed, often requires placement of a pacemaker.
Ventricular Septal Defect
- The ventricular septum is a complex structure that can be divided into four components.
- The largest component is the muscular septum.
- The inlet or posterior septum comprises endocardial cushion tissue.
- The subarterial or supracristal septum comprises conotruncal tissue.
- The membranous septum is below the aortic valve and is relatively small.
- VSD, the most common congenital heart defect, accounts for 25% of all congenital heart disease.
- Perimembranous VSDs are the most common of all VSDs (67%).
- Although the location of the VSD is important prognostically and in approach to repair, the amount of flow crossing a VSD depends on the size of the defect and the pulmonary vascular resistance. Large VSDs are not symptomatic at birth because the pulmonary vascular resistance is normally elevated at this time. As the pulmonary vascular resistance decreases over the first 6 to 8 weeks of life the amount of shunt increases, and symptoms may develop.
VSD Clinical Manifestations
- The size of the VSD affects the clinical presentation.
- Small VSDs with little shunt are often asymptomatic but have a loud murmur.
- Moderate to large VSDs result in pulmonary overcirculation and heart failure, presenting as fatigue, diaphoresis with feedings, and poor growth.
- The typical physical finding with a VSD is a pansystolic murmur, usually heard best at the lower left sternal border.
- There may be a thrill.
- Large shunts increase flow across the mitral valve causing a mid-diastolic murmur at the apex.
- The splitting of S2 and intensity of P2 depend on the pulmonary artery pressure.
VSD Imaging Studies
- EKG and chest x-ray findings depend on the size of the VSD.
- Small VSDs usually have normal studies.
- Larger VSDs cause volume overload to the left side of the heart, resulting in ECG findings of left atrial and ventricular enlargement and hypertrophy.
- A chest x-ray may reveal cardiomegaly, enlargement of the left ventricle, an increase in the pulmonary artery silhouette, and increased pulmonary blood flow.
- Pulmonary hypertension due to either increased flow or increased pulmonary vascular resistance may lead to right ventricular enlargement and hypertrophy.
- Approximately one third of all VSDs close spontaneously.
- Small VSDs usually close spontaneously and, if they do not close, surgical closure may not be required.
- Initial treatment for moderate to large VSDs includes diuretics, digoxin, and afterload reduction.
- Continued poor growth or pulmonary hypertension despite therapy requires closure of the defect.
- Most VSDs are closed surgically, but some VSDs, especially muscular defects, can be closed with devices placed at cardiac catheterization.
Atrial Septal Defect
- During the embryologic development of the heart, a septum grows toward the endocardial cushions to divide the atria.
- Failure of septal growth or excessive reabsorption of tissue leads to ASDs.
- ASDs represent approximately 10% of all congenital heart defects.
- A secundum defect, with the hole in the region of the foramen ovale, is the most common ASD.
- A primum ASD, located near the endocardial cushions, may be part of a complete atrioventricular canal defect or may be present with an intact ventricular septum.
- The least common ASD is the sinus venosus defect, which may be associated with anomalous pulmonary venous return.
ASD Clinical Manifestations
- Regardless of the site of the ASD, the pathophysiology and amount of shunting depend on the size of the defect and the relative compliance of the both ventricles.
- Even with large ASDs and significant shunts, infants and children are rarely symptomatic.
- A prominent right ventricular impulse at the left lower sternal border (LLSB) often can be palpated.
- A soft (grade I or II) systolic ejection murmur in the region of the right ventricular outflow tract and a fixed split S2 (due to overload of the right ventricle with prolonged ejection into the pulmonary circuit) are often audible.
- A larger shunt may result in a mid-diastolic murmur at the left lower sternal border as a result of the increased volume passing across the tricuspid valve.
ASD Imaging Studies
- ECG and chest x-ray findings reflect the increased blood flow through the right atrium, right ventricle, pulmonary arteries, and lungs.
- The ECG may show right axis deviation and right ventricular enlargement.
- A CXR may show cardiomegaly, right atrial enlargement, and a prominent pulmonary artery.
- Medical management is rarely indicated.
- If a significant shunt is still present at around 3 years of age, closure is usually recommended.
- Many secundum ASDs can be closed with an ASD closure device in the catheterization laboratory.
- Primum and sinus venosus defects require surgical closure.
Patent Ductus Arteriosis
- The ductus arteriosus allows blood to flow from the pulmonary artery to the aorta during fetal life.
- Failure of the normal closure of this vessel results in a PDA.
- With a falling pulmonary vascular resistance after birth, left-to-right shunting of blood and increased pulmonary blood flow occur.
- Excluding premature infants, PDAs represent approximately 5% to 10% of congenital heart disease
PDA Clinical Manifestations
- Symptoms depend on the amount of pulmonary blood flow.
- The magnitude of the shunt depends on the size of the PDA (diameter, length, and tortuosity) and the pulmonary vascular resistance.
- Small PDAs are asymptomatic; moderate to large shunts can produce the symptoms of heart failure as the pulmonary vascular resistance decreases.
- The physical examination findings depend on the size of the shunt.
- A widened pulse pressure is often present as a result of the runoff of blood into the pulmonary circulation during diastole.
- A continuous, machine-like murmur can be heard at the left infraclavicular area.
- The murmur radiates along the pulmonary arteries and is often well heard over the left side of the back.
- Larger shunts with increased flow across the mitral valve may result in a mid-diastolic murmur at the apex and a hyperdynamic precordium.
- Splitting of S2 and intensity of P2 depend on the pulmonary artery pressure.
- A thrill may be palpable.
PDA Imaging Studies
- ECG and CXR findings are normal with small PDAs.
- Moderate to large shunts may result in a full pulmonary artery silhouette and increased pulmonary vascularity.
- ECG findings vary from normal to evidence of left ventricular hypertrophy.
- If pulmonary hypertension is present, there is also right ventricular hypertrophy.
- Spontaneous closure of a PDA after a few weeks of age is uncommon in full-term infants.
- Moderate and large PDAs may be managed initially with diuretics, but eventually require closure.
- Elective closure of small, hemodynamically insignificant PDAs is controversial.
- Most PDAs can be closed in the catheterization laboratory by either coil embolization or a PDA closure device.
Coarctation Of The Aorta
- Coarctation of the aorta occurs in approximately 10% of all congenital heart defects.
- It is almost always juxtaductal in position.
- During development of the aortic arch, the area near the insertion of the ductus arteriosus fails to develop correctly, resulting in a narrowing of the aortic lumen.
CoA Clinical Manifestations
- Timing of presentation depends on the severity of obstruction and associated cardiac defects.
- Infants presenting with coarctation of the aorta frequently have hypoplastic aortic arches, abnormal aortic valves, and VSDs.
- They may be dependent on a patent ductus arteriosus to provide descending aortic flow.
- Symptoms develop when the aortic ampulla of the ductus closes.
- Less severe obstruction causes no symptoms because blood flow into the descending aorta is not dependent on the ductus.
- Symptoms, including poor feeding, respiratory distress, and shock, may develop before 2 weeks of age.
- Classically the femoral pulses are weaker and delayed compared with the right radial pulse.
- The blood pressure in the lower extremities is lower than that in the upper extremities.
- If cardiac function is poor, however, these differences may not be as apparent until appropriate resuscitation is accomplished.
- In this situation, there may be no murmur, but an S3 is often present.
- Older children presenting with coarctation of the aorta are usually asymptomatic.
- There may be a history of leg discomfort with exercise, headache, or epistaxis.
- Decreased or absent lower extremity pulses, hypertension (upper extremity), or a murmur may be present.
- The murmur is typically best heard in the left interscapular area of the back.
- If significant collaterals have developed, continuous murmurs may be heard throughout the chest.
- An abnormal aortic valve is present approximately 50% of the time, causing a systolic ejection click and systolic ejection murmur of aortic stenosis
CoA Imaging Studies
- The ECG and CXR show evidence of right ventricular hypertrophy in infantile coarctation with marked cardiomegaly and pulmonary edema.
- Echocardiography shows the site of coarctation and associated lesions.
- In older children, the ECG and chest x-ray usually show left ventricular hypertrophy and a mildly enlarged heart.
- Rib notching may also be seen in older children (>8 years of age) with large collaterals.
- Echocardiography shows the site and degree of coarctation, presence of left ventricular hypertrophy, and aortic valve morphology and function.
- Management of an infant presenting with cardiac decompensation includes intravenous infusion of prostaglandin E1 (chemically opens the ductus arteriosus), inotropic agents, diuretics, and other supportive care.
- Balloon angioplasty has been done, especially in critically ill infants, but surgical repair of the coarctation is most commonly performed.
- Ballooning and stenting of older patients with coarctation has also been performed, but surgical repair remains the most common form of management.
- Valvular, subvalvular, or supravalvular aortic stenosis represents approximately 5% of all congenital heart disease.
- Lesions result from failure of development of the three leaflets or failure of resorption of tissue around the valve.
AS Clinical Manifestations
- Symptoms depend on the degree of stenosis.
- Mild to moderate obstructions cause no symptoms.
- More severe stenosis results in easy fatigability, exertional chest pain, and syncope.
- Infants with critical aortic stenosis may present with symptoms of heart failure.
- A systolic ejection murmur is heard at the right second intercostal space along the sternum and radiating into the neck.
- The murmur increases in length and becomes higher in frequency as the degree of stenosis increases.
- With valvular stenosis, a systolic ejection click often is heard, and a thrill may be present at the right upper sternal border or in the suprasternal notch.
- The aortic component of S2 may be decreased in intensity.
AS Imaging Studies
- ECG and CXR findings are normal with mild degrees of stenosis.
- Left ventricular hypertrophy develops with moderate to severe stenosis and is detected on the ECG and chest x-ray.
- Poststenotic dilation of the ascending aorta or aortic knob may be seen on chest radiographs.
- Echocardiography shows the site of stenosis, valve morphology, and presence of left ventricular hypertrophy and allows an estimate of the pressure gradient.
- The degree of aortic stenosis frequently progresses with growth and age.
- Aortic insufficiency often develops or progresses.
- Serial follow-up with echocardiography is indicated.
- Balloon valvuloplasty is usually the first interventional procedure for significant stenosis.
- It is not as successful as pulmonary balloon valvuloplasty and has a higher risk of significant valvular insufficiency.
- Surgical management is necessary when balloon valvuloplasty is unsuccessful, or significant valve insufficiency develops.
Mitral Valve Prolapse
- Mitral valve prolapse (MVP) occurs when the valve between your heart's left upper chamber (left atrium) and the left lower chamber (left ventricle) doesn't close properly.
- During mitral valve prolapse, that valve bulges (prolapses) upward, or back into the atrium.
- Mitral valve prolapse sometimes leads to blood leaking backward into the left atrium, a condition called mitral valve regurgitation.
- In most people, mitral valve prolapse isn't life-threatening and doesn't require treatment or changes in lifestyle.
- Some people with mitral valve prolapse, however, require treatment.
- Although mitral valve prolapse is a lifelong disorder, many people with this condition never have symptoms.
- When signs and symptoms do occur, it's typically because blood is leaking backward through the valve (regurgitation).
- Mitral valve prolapse symptoms can vary widely from one person to another.
- They tend to be mild, develop gradually and may include: A racing or irregular heartbeat (arrhythmia), Dizziness or lightheadedness, Difficulty breathing or shortness of breath, often when lying flat or during physical activity, Fatigue, Chest pain that's not caused by a heart attack or coronary artery disease
- When your heart is working properly, the mitral valve closes completely during contraction of the left ventricle and prevents blood from flowing back into your heart's upper left chamber (left atrium).
- But in some people with mitral valve prolapse, the mitral valve's flaps (leaflets) have extra tissue, bulging (prolapsing) like a parachute into their left atrium each time the heart contracts.
- The bulging may keep the valve from closing tightly.
- When blood leaks backward through the valve, it's called mitral valve regurgitation.
- This may not cause problems if only a small amount of blood leaks back into the atrium.
- More severe mitral valve regurgitation can cause symptoms such as shortness of breath, fatigue, lightheadedness or a cough.
- Another name for mitral valve prolapse is click-murmur syndrome.
- When a doctor listens to your heart using a stethoscope, he or she may hear a clicking sound as the valve's leaflets billow out, followed by a murmur resulting from blood flowing back into the atrium.
- Other names to describe mitral valve prolapse include: Barlow's syndrome, Floppy valve syndrome, Ballooning mitral valve syndrome
MVP Risk Factors
- Although mitral valve prolapse can develop in any person at any age, it's found most often in men older than 50.
- Mitral valve prolapse often runs in families and may be linked to other conditions, such as: Marfan syndrome, Ehlers-Danlos syndrome, Adult polycystic kidney disease, Ebstein's anomaly, Scoliosis
- Most people with mitral valve prolapse, particularly people without symptoms, don't require treatment.
- However, if you have symptoms, your doctor may recommend medications or surgery, depending on the severity of your condition.
- Beta blockers: These drugs help prevent irregular heartbeats by making your heart beat more slowly and with less force, which reduces your blood pressure. Beta blockers also help blood vessels relax and open up to improve blood flow.
- Aspirin: to reduce the risk of blood clots.
- Surgery: Valve repair or replacement
- Antibiotics seldom recommended: According to the American Heart Association, antibiotics are no longer necessary in most cases for someone with mitral valve regurgitation or mitral valve prolapse.
- Precautions during pregnancy: doctors sometimes recommend antibiotics during childbirth if there's a risk of an infection that could affect the mitral valve.
Tetralogy of Fallot
- Tetralogy of Fallot is the most common cyanotic congenital heart defect, representing about 10% of all congenital heart defects.
- Anatomically, there are four structural defects: ventricular septal defect (VSD), pulmonary stenosis, overriding aorta, and right ventricular hypertrophy.
- Tetralogy of Fallot is due to abnormal septation of the truncus arteriosus into the aorta and pulmonary artery that occurs early in gestation (3-4 weeks).
- The VSD is large and the pulmonary stenosis is most commonly subvalvular or infundibular.
- It may also be valvular, supravalvular, or, frequently, a combination of levels of obstruction.
Tetralogy of Fallot Clinical Manifestations
- The degree of cyanosis depends on the amount of pulmonary stenosis.
- Infants initially may be acyanotic.
- A pulmonary stenosis murmur is the usual initial abnormal finding.
- If the pulmonary stenosis is more severe, or as it becomes more severe over time, the amount of right-to-left shunting at the VSD increases and the patient becomes more cyanotic.
- With increasing severity of pulmonary stenosis, the murmur becomes shorter and softer.
- In addition to varying degrees of cyanosis and a murmur, a single S2 and right ventricular impulse at the left sternal border are typical findings.
- When hypoxic (Tet) spells occur, they are usually progressive.
- During a spell, the child typically becomes restless and agitated and may cry inconsolably.
- An ambulatory toddler may squat.
- Hyperpnea occurs with gradually increasing cyanosis and loss of the murmur.
- In severe spells, prolonged unconsciousness and convulsions, hemiparesis, or death may occur.
- Independent of hypoxic spells, patients with tetralogy of Fallot are at increased risk for cerebral thromboembolism and cerebral abscesses resulting in part from their right-to-left intracardiac shunt.
Tetralogy of Fallot Imaging Studies
- The ECG usually has right axis deviation and right ventricular hypertrophy.
- The classic chest x-ray finding is a boot-shaped heart created by the small main pulmonary artery and upturned apex secondary to right ventricular hypertrophy.
- Echocardiography shows the anatomic features, including the levels of pulmonary stenosis, and provides quantification of the degree of stenosis.
- Coronary anomalies, most commonly a left anterior descending coronary artery crossing the anterior surface of the right ventricular outflow tract, are present in 5% of patients with tetralogy of Fallot.
Tetralogy of Fallot Treatment
- The natural history of tetralogy of Fallot is progression of pulmonary stenosis and cyanosis.
- Treatment of hypoxic spells consists of oxygen administration (although this has minimal benefit) and placing the child in the knee-chest position (to increase venous return).
- Traditionally, giving morphine sulfate (to relax the pulmonary infundibulum and for sedation) is given.
- If necessary, the systemic vascular resistance can be increased acutely through the administration of an α-adrenergic agonist (phenylephrine).
- The occurrence of a cyanotic spell is an indication to proceed with surgical repair.
- Complete surgical repair with VSD closure and removal or patching of the pulmonary stenosis can be performed in infancy.
- Occasionally, palliative shunt surgery between the subclavian artery and pulmonary artery is performed for complex forms of tetralogy of Fallot and more complete repair is done at a later time.
- Subacute bacterial endocarditis prophylaxis is indicated until 6 months after complete repair unless there is a residual VSD.
- Prophylaxis is then continued as long as there is a residual VSD.
Hypoplastic Left Heart Syndrome
- Hypoplastic left heart syndrome accounts for 1% of all congenital heart defects but is the most common cause of death from cardiac defects in the first month of life.
- Hypoplastic left heart syndrome occurs when there is failure of development of the mitral or aortic valve or the aortic arch.
- A small left ventricle that is unable to support normal systemic circulation is a central finding of hypoplastic left heart syndrome, regardless of etiology.
- Associated degrees of hypoplasia of the ascending aorta and aortic arch are present.
- Left-to-right shunting occurs at the atrial level.
HLHS Clinical Manifestations
- After delivery, the infant is dependent on right-to-left shunting at the ductus arteriosus for systemic blood flow.
- As the ductus arteriosus constricts, the infant becomes critically ill with signs and symptoms of heart failure from excessive pulmonary blood flow and obstruction of pulmonary venous return.
- Pulses are diffusely weak or absent.
- S2 is single and loud.
- There is usually no heart murmur.
- Cyanosis may be minimal, but low cardiac output gives a grayish color to the cool, mottled skin.
HLHS Imaging Studies
- ECG findings include right ventricular hypertrophy with decreased left ventricular forces.
- he chest x-ray reveals cardiomegaly (with right-sided enlargement) and pulmonary venous congestion or pulmonary edema.
- Echocardiography shows the small left side of the heart, the degree of stenosis of the aortic and mitral valves, the hypoplastic ascending aorta, and the adequacy of left-to-right atrial flow.
- Medical management includes prostaglandin E1 to open the ductus arteriosus, correction of acidosis, and ventilatory and blood pressure support as needed.
- Surgical repair is staged with the first surgery (Norwood procedure) done in the newborn period.
- Subsequent procedures create a systemic source for the pulmonary circulation (bidirectional Glenn and Fontan procedures), leaving the right ventricle to supply systemic circulation.
- Prognosis for survival has improved significantly over the past two decades.
Complete Transposition of the Great Vessels
- Although dextroposed transposition of the great arteries represents only about 5% of congenital heart defects, it is the most common cyanotic lesion to present in the newborn period.
- Transposition of the great arteries is ventriculoarterial discordance secondary to abnormalities of septation of the truncus arteriosus.
- In dextroposed transposition, the aorta arises from the right ventricle, anterior and to the right of the pulmonary artery, which arises from the left ventricle.
- This results in desaturated blood returning to the right side of the heart and being pumped back out to the body, while well-oxygenated blood returning from the lungs enters the left side of the heart and is pumped back to the lungs.
- Without mixing of the two circulations, death occurs quickly.
- Mixing can occur at the atrial (patent foramen ovale/atrial septal defect [ASD]), ventricular [VSD], or great vessel (patent ductus arteriosus [PDA]) level.
TOGV Clinical Manifestations
- A history of cyanosis is always present, although it depends on the amount of mixing.
- Quiet tachypnea and a single S2 are typically present.
- If the ventricular septum is intact, there may be no murmur.
- Children with transposition and a large VSD have improved intracardiac mixing and less cyanosis.
- They may present with signs of heart failure.
- The heart is hyperdynamic, with palpable left and right ventricular impulses.
- A loud VSD murmur is heard. S2 is single.
TOGV Imaging Studies
- ECG findings typically include right axis deviation and right ventricular hypertrophy.
- The chest x-ray reveals increased pulmonary vascularity, and the cardiac shadow is classically an egg on a string created by the narrow superior mediastinum.
- Echocardiography shows the transposition of the great arteries, the sites and amount of mixing, and any associated lesions.
- Initial medical management includes prostaglandin E1 to maintain ductal patency.
- If significant hypoxia persists on prostaglandin therapy, a balloon atrial septostomy improves mixing between the two circulations.
- Complete surgical repair is most often an arterial switch.
- The arterial switch usually is performed within the first 2 weeks of life, when the left ventricle can still maintain systemic pressure.
- Truncus arteriosus occurs in less than 1% of all cases of congenital heart disease.
- It results from the failure of septation of the truncus, which normally occurs during the first 3 to 4 weeks of gestation.
- Anatomically, a single arterial trunk arises from the heart with a large VSD immediately below the truncal valve.
- The pulmonary arteries arise from the single arterial trunk either as a single vessel that divides or individually from the arterial trunk to the lungs.
Truncus Arteriosus Clinical Manifestations
- Varying degrees of cyanosis depend on the amount of pulmonary blood flow.
- If not diagnosed at birth, the infant may develop signs of heart failure as pulmonary vascular resistance decreases.
- The signs then include tachypnea and cough.
- Peripheral pulses are usually bounding as a result of the diastolic runoff into the pulmonary arteries.
- A single S2 is due to the single valve.
- There may be a systolic ejection click, and there is often a systolic murmur at the left sternal border.
Truncus Arteriosus Imaging Studies
- ECG findings include combined ventricular hypertrophy and cardiomegaly.
- A chest x-ray usually reveals increased pulmonary blood and may show displaced pulmonary arteries.
- Echocardiography defines the anatomy, including the VSD, truncal valve function, and origin of the pulmonary arteries.
Truncus Arteriosus Treatment
- Medical management is usually needed and includes anticongestive medications.
- Surgical repair includes VSD closure and placement of a conduit between the right ventricle and pulmonary arteries.
Rheumatic Heart Disease
- Rheumatic heart disease is the most serious complication of rheumatic fever.
- Acute rheumatic fever follows 0.3% of cases of group A beta-hemolytic streptococcal pharyngitis in children.
- As many as 39% of patients with acute rheumatic fever may develop varying degrees of pancarditis with associated valve insufficiency, heart failure, pericarditis, and even death.
- With chronic rheumatic heart disease, patients develop valve stenosis with varying degrees of regurgitation, atrial dilation, arrhythmias, and ventricular dysfunction.
- Chronic rheumatic heart disease remains the leading cause of mitral valve stenosis and valve replacement in adults in the United States.
- Acute rheumatic fever and rheumatic heart disease are thought to result from an autoimmune response, but the exact pathogenesis remains unclear.
- Although uncommon in the United States, acute rheumatic fever remains an important preventable cause of cardiac disease.
- It is most common in children 6 to 15 years of age.
- It is due to an immunologic reaction that is a delayed sequela of group A beta-hemolytic streptococcal infections of the pharynx.
- A family history of rheumatic fever and lower socioeconomic status are additional factors.
Rheumatic Fever Clinical Manifestations
- Acute rheumatic fever is diagnosed using the clinical and laboratory findings of the revised Jones criteria.
- The presence of either two major criteria or one major and two minor criteria, along with evidence of an antecedent streptococcal infection, confirm a diagnosis of acute rheumatic fever.
- The infection often precedes the presentation of rheumatic fever by 2 to 6 weeks.
- Streptococcal antibody tests, such as the antistreptolysin O titer, are the most reliable laboratory evidence of prior infection.
Rheumatic Fever Jones Criteria
- Polyarthritis: Most common; swelling, limited motion, tender, erythema; Migratory; involves large joints but rarely small or unusual joints, such as vertebrae
- Carditis: Common; pancarditis, valves, pericardium, myocardium. Tachycardia greater than explained by fever; new murmur of mitral or aortic insufficiency; Carey-Coombs mid-diastolic murmur; heart failure
- Chorea (Sydenham disease): Uncommon; manifests long after infection has resolved; more common in females; antineuronal antibody positive; neurologic and psychiatric signs
- Erythema Marginatum: Uncommon; pink macules on trunk and proximal extremities, evolving to serpiginous border with central clearing; evanescent, elicited by application of local heat; nonpruritic
- Subcutaneous Nodules: Uncommon; associated with repeated episodes and severe carditis; located over extensor surface of elbows, knees, knuckles, and ankles or scalp and spine; firm, nontender
Rheumatic Fever Treatment and Prevention
- Management of acute rheumatic fever consists of benzathine penicillin to eradicate the beta-hemolytic streptococcus, anti-inflammatory therapy with salicylates after the diagnosis is established, and bed rest.
- Additional supportive therapy for heart failure or chorea may be necessary during the acute presentation.
- Long-term penicillin prophylaxis, preferably with intramuscular benzathine penicillin G, 1.2 million U every 28 days, is required.
- Oral regimens for prophylaxis generally are not as effective.
- The prognosis of acute rheumatic fever depends on the degree of permanent cardiac damage.
- Cardiac involvement may resolve completely, especially if it is the first episode and the prophylactic regimen is followed.
- The severity of cardiac involvement worsens with each recurrence of rheumatic fever.
- Pericarditis is inflammation of the parietal and visceral surfaces of the pericardium.
- It is most often viral in origin with many viruses identified as causative agents.
- A bacterial etiology is rare, but usually bacteria cause a much more serious and symptomatic pericarditis.
- Staphylococcus aureus and Streptococcus pneumoniae are the most likely bacterial causes.
- Pericarditis is associated with collagen vascular diseases, such as rheumatoid arthritis, and is seen with uremia.
- Postpericardiotomy syndrome is a relatively common form of pericarditis that follows heart surgery.
Pericarditis Clinical Manifestations
- The symptoms of pericarditis depend on the amount of fluid in the pericardial space and how fast it accumulates.
- A small effusion usually is well tolerated.
- A large effusion may be remarkably well tolerated if it accumulates slowly.
- The faster the fluid accumulates, the sooner the patient is hemodynamically compromised and develops symptoms.
- Chest pain (worsened if lying down or with inspiration)
- Patient assumes sitting position
- Nonconstrictive: Fever, Tachycardia, Friction rub (accentuated by inspiration, body position), Enlarged heart by percussion and x-ray examination, Distant heart sounds
- Tamponade: As above, plus Distended neck veins, Hepatomegaly, Pulsus paradoxus (>10 mm Hg with inspiration), Narrow pulse pressure, Weak pulse, poor peripheral perfusion
- Constrictive: Distended neck veins, Kussmaul sign (inspiratory increase in jugular venous pressure), Distant heart sounds, Pericardial knock, Hepatomegaly, Ascites, Edema, Tachycardia
Pericarditis Imaging and Lab Studies
- Echocardiography is the most specific and useful diagnostic test for detection of pericardial effusions.
- A chest x-ray may reveal cardiomegaly.
- A large effusion creates a rounded, globular cardiac silhouette.
- The electrocardiogram (ECG) may show tachycardia, elevated ST segments, reduced QRS voltage or electrical alternans (variable QRS amplitude).
- The causative organism may be identified through viral titers, antistreptolysin O (ASO) titers, or diagnostic testing of the pericardial fluid.
- Pericardiocentesis is indicated for treatment of hemodynamically significant effusions and to determine the etiology of the pericarditis.
- Additional treatment is directed at the specific etiology.
- There is no specific treatment for viral pericarditis other than anti-inflammatory medications.
- Kawasaki disease (KD) is a vasculitis of unknown etiology that is characterized by multisystem involvement and inflammation of small to medium-sized arteries with resulting aneurysm formation.
- Although many causes of KD have been hypothesized, no single underlying etiology has been ascertained.
- KD is a common vasculitis of childhood that has been described in variable frequency in all parts of the world; the highest frequency is in Japan.
- Although KD can affect children of all races, it is more common in children of Asian descent.
- The incidence in the United States is approximately 6 per 100,000 children who are younger than 5 years of age.
- KD most commonly occurs in children younger than 5 years of age, with a peak between 2 to 3 years, and is rare in children older than 7 years.
- A seasonal variability has been described with a peak between February and May, but the disease occurs throughout the year.
KD Clinical Manifestations
- The clinical course of KD can be divided into three phases, each with its own unique manifestations.
- Aneurysmal involvement of the coronary arteries is the most important manifestation of KD
KD Acute Phase
- The acute phase of KD, which lasts 1-2 weeks, is marked by sudden onset of a high, hectic fever (≥40 °C) without an apparent source.
- The onset of fever is followed by conjunctival erythema; mucosal changes, including dry, cracked lips and a strawberry tongue; cervical lymphadenopathy; and swelling of the hands and feet.
- Conjunctivitis is bilateral, bulbar, and nonsuppurative.
- Cervical lymphadenopathy is found in 70% of children and should be greater than 1.5 cm in diameter for the purposes of diagnosis.
- A rash, which can vary in appearance, occurs in 80% of children with KD and may be particularly accentuated in the inguinal area and on the chest.
- Extreme irritability is prominent, especially in infants.
- Abdominal pain and hydrops of the gallbladder, pleocytosis, and arthritis, particularly of medium-sized to large joints, may occur.
- Carditis in the acute phase may be manifested by tachycardia, shortness of breath, or overt congestive heart failure.
- Giant coronary artery aneurysms, which are rare but occur most commonly in very young children, can appear during this phase
KD Subacute Phase
- The subacute phase, which lasts until about the fourth week, is characterized by gradual resolution of fever (if untreated) and other symptoms.
- Desquamation of the skin, particularly of the fingers and toes, appears at this point.
- The platelet count, previously normal or slightly elevated, increases to a significant degree (often >1 million/mm3).
- This phase heralds the onset of coronary artery aneurysms, which may also appear in the convalescent phase, and pose the highest risk of sudden death.
- Risk factors for development of coronary artery aneurysms include prolonged fever, prolonged elevation of inflammatory parameters such as the erythrocyte sedimentation rate (ESR), age younger than 1 year or older than 6 years, and male gender.
KD Convalescent Phase
- The convalescent phase begins with the disappearance of clinical symptoms and continues until the ESR returns to normal, usually 6 to 8 weeks after the onset of illness.
- Beau lines of the fingernails may appear during this phase
KD Lab and Imaging Studies
- It is particularly important to exclude other causes of fever, notably infection.
- It is appropriate to obtain blood and urine cultures and to perform a chest x-ray.
- In the acute phase, inflammatory parameters are elevated, including white blood cell count, platelet count, C-reactive protein, and the ESR, which can be profoundly elevated (often >80 mm/hr).
- A lumbar puncture, if performed to exclude infection, may reveal pleocytosis.
- Tests of hepatobiliary function may be abnormal.
- Greatly elevated platelet counts develop during the subacute phase.
- The development of coronary artery aneurysms is monitored by performing two-dimensional echocardiograms, usually during the acute phase, at 2 to 3 weeks, and at 6 to 8 weeks.
- More frequent echocardiograms and, potentially, coronary angiography are indicated for patients who develop coronary artery abnormalities.
KD Differential Diagnosis
- The diagnosis of KD is based on the presence of fever for more than 5 days without an identifiable source and the presence of four of five other clinical criteria.
- The diagnosis of incomplete (atypical) KD, which occurs more commonly in infants, is made when fever is present for at least 5 days even if only two or three clinical criteria are present.
- The diagnosis of KD should be considered in infants younger than 6 months of age with fever for at least 7 days even if no other criteria are present.
- Because many of the manifestations of KD are found in other illnesses, many diagnoses must be considered and excluded before the diagnosis of KD can be established
Criteria for Diagnosis of KD
- Fever of ≥5 days' duration associated with at least four* of the following five changes
- Bilateral nonsuppurative conjunctivitis
- One or more changes of the mucous membranes of the upper respiratory tract, including pharyngeal injection, dry fissured lips, injected lips, and "strawberry" tongue
- One or more changes of the extremities, including peripheral erythema, peripheral edema, periungual desquamation, and generalized desquamation
- Polymorphous rash, primarily truncal
- Cervical lymphadenopathy >1.5 cm in diameter
- Disease cannot be explained by some other known disease process
- Intravenous immunoglobulin (IVIG) is the mainstay of therapy for KD, although the mechanism of action is unknown.
- A single dose of IVIG (2 g/kg over 12 hours) results in rapid defervescence and resolution of clinical illness in most patients and, more importantly, reduces the incidence of coronary artery aneurysms.
- Aspirin is initially given in anti-inflammatory doses (80 to 100 mg/kg/day divided every 6 hours) in the acute phase.
- Some experts recommend continuing high-dose aspirin until the 14th day and at least 3 days without fever; others recommend only until 48 hours without fever.
- Aspirin in antithrombotic doses (3 to 5 mg/kg/day as a single dose) is administered through the subacute and convalescent phases, usually for 6 to 8 weeks, until follow-up echocardiography documents the absence of coronary artery aneurysms
Most of these patients respond to retreatment with IVIG (2 g/kg over 12 hours), but an alternative preparation of IVIG may be required.
Corticosteroids or infliximab are rarely used in KD, as opposed to other vasculitides, but may have a role during the acute phase if active carditis is apparent or for children with persistent fever after two doses of IVIG.
Pediatric CV Pearls
- Murmurs: 95% at 18 months
- CHF: 95% at 6 months
- Cyanosis: 95% at 3 months
- ~1 week: 50% mortality
These four cause 95% of deaths in week 1 of life
- Hypoplastic Left Heart Syndrome
- Congenital AS +/- subendocardial ischemia
- Coarctation of the aorta
- Transposition of the great vessels
Epidemiology of Dehydration
Most often results from acute diarrhea
Children at Increased Risk for Dehydration
- higher ratio of surface area to body weight
- unable to communicate thirst
- higher metabolic rate
Dehydration: Leading cause of child morbidity and mortality
- in developing nations accounts for >4 million deaths/yr
- malnutrition magnifies the consequences
- is problem in developed countries as well
Scope of Dehydration Problem in US
- average child has 7-15 episodes of diarrhea in first five years of life
- ~10% of hospitalizations in children <5 years are due to diarrheal illnesses and complications
- ~400/deaths per year
- Preventable: according to CDC “proper management” by parents of small children and clinicians could markedly decrease rates of hospitalization and death. ORS solutions should be readily available at home
Causes of Dehydration in Pediatrics
- Infectious gastroenteritis: viral, bacterial, parasitic
- 80/80 rule: 80% infectious, 80% viral
- Food intoxication
- Systemic infection
- Acute vomiting
- Rare: toxic ingestion, hypothyroidism
- Viral: rotavirus, noroviruses, enteroviruses
- Bacterial: Salmonella, Shigella, Campylobacter
- Parasitic: Giardia, Cryptosporidium
Common Causes of Vomiting In Pediatric Patients
- Infectious gastroenteritis
- Infants: obstruction, reflux
- Children: toxic ingestion, systemic infection
- Teens: migraine, medications, pregnancy
Adolescents and “Chronic” Dehydration Common Presenting Signs
- worsening allergies, asthma
- worsening acne
- vigorous exercise: drink at least ⅔ of body weight in ounces
- e.g. 130 lb athlete needs 87 ounces of water
- dehydration decreases performance
Clinical Signs and Symptoms of Dehydration: Physical examination
- Vital signs: weight, temp, HR, RR
- General survey: level of distress
- HEENT: fontanelle (infants), appearance of eyes, ? tears, oral mucous membranes
- Abdomen: bowel sounds, ? distention
- Extremities: capillary refill, turgor
- Score 0: normal general appearance, normal eyes, moist mucous membranes (tongue), tears
- Score 1 each: general appearance thirsty, restless or lethargic but irritable when touched; slightly sunken eyes; sticky mucous membranes; decreased tears
- Score 2 each: general appearance drowsy, limp, cold or sweaty (comatose or not); very sunken eyes; dry mucous membranes; absent tears
- 0 = no dehydration
- 1-4 = mild dehydration
- 5-8 = mod-severe dehydration
Indications for Medical Evaluation of Children with Acute Diarrhea
- Young age (e.g. age <6 mos or wt <8 kg)
- History of premature birth, chronic medical conditions, or concurrent illness
- Fever ≥ 38 C for infants < 3 mos or ≥ 39 C for children 3-36 mos
- Visible blood in stool
- High output, including frequent and substantial volumes of diarrhea
- Persistent vomiting
- Caregiver’s report of signs consistent with dehydration (e.g. sunken eyes or decreased tears, dry mucous membranes, or decreased urine output)
- Change in mental status (e.g. irritability, apathy, or lethargy)
- Suboptimal response to oral rehydration therapy already administered or inability of caregiver to administer oral rehydration therapy
Laboratory Evaluation of Dehydration
- In mild to moderate dehydration not usually indicated but urine dipstick for specific gravity and ketones may be helpful
- Diagnostic studies indicated in severe dehydration (and in children receiving IV hydration); serum electrolytes and complete blood counts
- ↑ hematocrit, albumin due to hemoconcentration
- ↑BUN but not sensitive enough to be clinically useful
- serum bicarbonate most useful; < 17mEq/L distinguishes mild dehydration from moderate to severe dehydration
Dehydration and Hypovolemia
- hypovolemia: can result from loss of salt and water
- dehydration: loss of water alone
- Often used interchangeably
- Degree of dehydration can be calculated or clinically assessed
- % dehydration = (pre-illness wt - illness wt / pre-illness wt) x100%
- body weight loss is 3-5%
- estimated fluid deficit is 30-50 ml/kg
- signs and symptoms: thirst, moist to slightly dry mucous membranes, normal production of tears and urine
- body weight loss is 6-10%
- estimated fluid deficit is 60-90ml/Kg
- signs and symptoms: irritability, lethargy, postural hypotension, sunken eyes and sunken anterior fontanelle in infants, decreased production of tears and urine, decreased capillary refill
- body weight loss is 10% or more
- estimated fluid deficit is 100ml/Kg or more
- signs and symptoms: lethargy, weak and rapid pulse; marked hypotension with poor peripheral perfusion; very dry mucous membranes; anuria or severe oliguria, absent tear production
- severe dehydration is a medical emergency
Dehydration “Type” Important In Guiding Therapy of Patients Who Need IV Rehydration
- Is relative to serum Na
- Hypotonic / hyponatremic: Na < 130 mEq/L
- Isotonic / isonatremic: Na 130-135 mEq/L
- Hypertonic / hypernatremic: Na > 150 mEq/L
- 90% of dehydration secondary to acute vomiting and diarrhea is isotonic
- Fluid deficit associated with sodium deficiency.
- The low osmolality of the extracellular space produces a reduction of the extracellular volume.
- Deficiency of sodium and water.
- The extracellular volume is reduced and serum osmolality and intracellular volume are normal.
- Water deficiency with elevation of serum osmolality and reduction of the extracellular volume.
- As a result of diffusion of water, the intracellular volume is also reduced and its osmolarity increased.
Oral Rehydration Therapy Indications
- ORT is a safe and appropriate method of treating most children with mild or moderate dehydration
- Requires close supervision/communication
- ORT is vastly under-utilized in US and other developed countries because of: readily available IV fluids, disposable equipment, medical “culture”; lack of training in ORT, public (parent) demand for quick service
- New CDC guidelines (2003) aggressively promote use of ORT
- ORT responsible for dramatic decreases in mortality from acute diarrhea
- Benefit represents “reverse technology”
- Use of IV therapy ingrained in US clinicians
- Continued feeding is hard sell; no more gut rest or BRAT diet
Contraindications to ORT
- intractable vomiting
- stool losses > 10 ml/ kg/ hour
- severe gastric distention/abdominal ileus
Worrisome Signs That May Require Abandoning ORT
- abdominal pain
- blood in stool
- infants < 6 months of age
- change in mental status or other signs of progressing dehydration
- suboptimal response to ORT
- most recent formulation in 2002; reduced concentrations of sodium and glucose
- “compromise” solution to manage both cholera and non-cholera diarrheas with single solution
- 90mmol/L of sodium
- 20mmol/L of potassium
- 111mmol/L of glucose
- effectively manages enterotoxigenic E. coli and rotavirus diarrheas as well
Reluctant Use of ORS in US
- Clinicians still endorse “clear liquids” as opposed to “appropriately composed” ORS
- Many cause an osmotic diarrhea
- Too little sodium bicarbonate, too much sugar
- Several different premixed formulations are available: Enfalyte, Pedialyte, CeraLyte, Rehydralyte
Homemade Cereal-Based Oral Rehydrating Solutions (CBORS)
- May be safer than homemade sugar-salt solutions because of lower osmolality
- Benefits: reduced stool output, decreased vomiting, decreased total volume of ORS needed, improved weight gain
- 2 c water, ½ c instant baby rice cereal, ¼ tsp salt
AAP recommends ORS for rehydration contain 75-90 mEq/L of sodium and 40-60 mEq/L of sodium for maintenance or prevention
- lower sodium solutions better approximate stool loss of sodium seen in viral diarrheas
- infants and children receiving higher sodium ORS should also be given low-sodium fluids (breast milk, water, diluted formula) to prevent sodium overload
“Homemade” Electrolyte Solution
- 2 quarts water
- 1 teaspoon baking soda
- 1 teaspoon salt
- 7 tablespoons sugar
- 1 packet Kool-Aid (sugar-free)
Scaled Down Electrolyte Solution Version for Infants
- 1 quart of water
- ½ teaspoon baking soda
- ½ teaspoon salt
- 3 tablespoons sugar
- ½ packet Kool-Aid (unsweetened)
“Tips” On Getting Children to Drink Water
- Offer water first with complaints of being thirsty
- Offer “diluted” juice: start with 20% water the first week, 30% water the second week...
Asses the Child Thoroughly Before Undertaking ORT:
- Age (birth weight if necessary)
- Health history
- Social/family history
- HPI: level of distress, associated symptoms
- QUANTIFY duration of illness, # of output episodes, amount of fluid with each episode
Basic Principles of ORT
- Two phases: rehydration and maintenance
- Rehydration: quick (over 3-4hrs) replacement of fluid losses
- Maintenance: administration of maintenance calories and fluids
- Rapid re-feeding: follows rapid rehydration.
- World Health Organization (WHO) Oral Rehydrating Solution (ORS) is only recommended solution worldwide
- Level of dehydration guides therapy
- On-going losses are replaced during both phases
No/ Minimal Dehydration
- No losses to replace
- General guidelines: 1 ml fluid/gram of output
- 10 ml of fluid/kg of body weight for each loose stool
- 2ml of fluid/kg of body weight for each episode of emesis
- Children < 10kg: 2-4 oz of ORS for each loose stool or episode of emesis
- Children > 10kg: 4-8 oz of ORS for each loose stool or episode of emesis
Mild/ Moderate Dehydration
- Rehydration: 50-100 ml of ORS/kg of body weight
- Add additional ORS for ongoing losses
- Give in very small increments (5 ml)
- Increase “size” as tolerated but vomiting may occur with larger amounts
- Clinical trials support use of NG tubes
- CDC warns some children may fail ORT; monitor closely
- Also concern that some parents may “fail”
ORS CDC Guidelines
- ORS should be used for rehydration
- Oral rehydration should be performed rapidly (within 3-4hrs)
- For rapid realimentation, an age appropriate, unrestricted diet is recommended as soon as rehydration is corrected
- For breastfed infants, nursing should be continued
- If formula-fed, diluted formula is not recommended and special formula usually is not necessary
- Additional ORS should be administered for ongoing losses through diarrhea
- No unnecessary laboratory tests or medications should be administered
- No “gut rest”; early re-feeding is best
- Avoid anti-diarrheal agents, anti-emetics & antibiotics as they can cause serious adverse effects
- Zinc supplementation may play role in prevention and treatment of both acute and chronic diarrhea
- Evidence-based medicine: ondansetron therapy recommended as part of treatment guidelines
- Results showed a single dose reduced vomiting, facilitated the administration of ORT, reduced need for IV hydration and hospital admission
- 2mg for children weighing 8-15kg
- 4mg for children weighing >15-30kg
- 8mg for children weighing >30kg
- Early refeeding decreases duration, severity and nutritional consequences of diarrhea
- “Good” Foods
- starches: rice, baked potatoes, plain pasta, toast
- clear soups or soups with rice, noodles or veggies
- yogurt, veggies, fresh fruits
- Previous recommendations avoided fats but new guidelines acknowledge this put limits on attaining desired number of calories
- Limit foods/beverages high in simple sugars
Indications for IV Rehydration. How Is This Commonly Done In the ED Setting.
- Is a medical emergency
- IV therapy is always warranted and may require more than one line
- Monitor closely until vital signs have returned to normal
- Laboratory testing required but should not delay start of hydration
- When level of consciousness has normalized change to oral hydration
Hyperglycemic Hyperosmolar Syndrome (HHS)
- Complication of Type 2 diabetes mellitus
- consequence of delayed diagnosis; often fatal
- may be initial presentation of Type 2 DM
- Typical triad: hyperglycemia, hyperosmolality and a mild metabolic acidosis
- hyperglycemia is striking: usually > 600 mg/dL
- acidosis relatively mild
- obese African-American and Hispanic children at greatest risk
- “imperative” that PCPs (and parents) recognize signs and symptoms of T2DM in children
- Children with allergies are described as atopic.
- Atopy is defined as hypersensitivity to environmental allergens; it is IgE mediated and has a genetic predisposition (Type I).
- It is also characterized by eosinophilia, Th2 cytokines and IL-4, IL-5 and IL-13.
Clinical Manifestations of Atopy In Childhood
- allergic rhinitis
- atopic dermatitis
- food allergies
Epidemiology of Atopic Diseases
- Dramatic incidence in past decades
- overall affects 20% of all infants and young children
- outpatient visits for atopic disease have tripled since 1995
- hygiene hypothesis
- Atopic diseases are most common chronic diseases of childhood
- Risks for atopic disease: family history, infection, environmental exposures, dietary triggers
Etiology of Atopic Diseases
Development of allergies in childhood is strongly correlated with the presence of atopic disease in parents and siblings
Breastfeeding and Atopic Disease
- Results are mixed but…
- Extensive literature review (2007) found that exclusive breastfeeding for at least 3 months in infants with a family history of atopic reduced the risk of AD by 42% and asthma by 27%
- In infants with a family history of asthma, breastfeeding for 3 months was associated with a 40% reduced risk of asthma
- Breastfeeding appears to reduce incidence of wheezing with respiratory infections in children ≤ 4 years of age
Hypoallergenic Formulas and Atopic Disease
- Hypoallergenic formulas include both extensively hydrolyzed formula (eHF) and partially hydrolyzed formula (pHF)
- Like breastfeeding studies results are mixed but it appears that exclusive use of these formulas can delay or prevent atopic dermatitis in children with strong family history of atopic disease
- eHF formulas slightly more effective than pHF formulas
- Use of soy formulas not associated with decrease in allergic disease
- Most common of the atopic disorders
- Significant economic burden
- Can be seasonal-caused by airborne pollen, perennial-indoor allergens, episodic
- Develops after repeated exposures
- Rare in infants younger than 6 months
- seasonal allergies usually present at 3 years
Allergic Rhinitis Pathophysiology
On exposure to certain antigens, IgE fixed to mast cells causes the release of chemical mediators leading to inflammation, vasodilation and increased capillary permeability.
Allergic Rhinitis Symptoms
- repetitive sneezing
- pruritus of nose, eye, ears and palate
- clear rhinorrhea
- post nasal drainage, epistaxis
- irritability, sleep disturbances, impaired school performance
- may coexist with other atopic diseases
Allergic Rhinitis Differential diagnosis
- Sinusitis: purulent discharge, HA, PND
- Rhinitis medicamentosa: overuse of topical decongestants
- Local disorders: polyps, deviated septum, adenoid hypertrophy, foreign body
- Vasomotor rhinitis
Allergic Rhinitis Diagnosis
- Allergy prick skin tests for pollens, dust mites, animals, mold, cockroaches
- Pollens: trees (spring), grass (summer), ragweed (fall)
- Serum RAST tests
- Nasal smear eosinophilia
Allergic Rhinitis Nonpharmacological Treatment
- Allergen avoidance
- Pollens- keep windows closed
- Dust mites-encasings on bed, wash linens in hot water weekly, remove stuffed animals
- Animals- keep out of home
- Cockroach bait
- Mold precautions
- HEPA filters
- Nasal saline
Allergic Rhinitis Pharmacotherapy
- First generation antihistamines: diphenhydramine, chlorpheniramine, hydroxyzine
- Second generation antihistamines: loratadine, cetirizine, fexofenadine, Xyzal
- Decongestants: oral and topical: pseudoephedrine, phenylephrine
- Nasal steroids: Veramyst, Rhinocort, fluticasone
- Eye symptoms: antihistamines ± mast cell stabilizers, Patanol, Zaditor
Allergic Rhinitis Immunotherapy
- Recommended for children who fail or only respond partially to pharmacotherapy and allergen control measures
- 3-5 years of injections containing antigens causing symptoms
- Decreases symptoms and use of medications.
- “The itch that rashes”
- Is usually first atopic disease to present
- Exact cause unclear but genetics, environmental factors and cutaneous sensitivity all have role
- Exaggerated inflammatory response
- Acute and chronic phases
- Triggers: stress, anxiety, temperature extremes, irritants, allergens
- Strong association with food allergies: eggs, milk, peanuts, soy, wheat, fish, shellfish, tree nuts
Atopic Dermatitis: Criteria for Diagnosis
- Evidence of itchy skin and 3 or more of the following:
- History of involvement of skin creases
- History of asthma or allergic rhinitis (or history of atopic disease in a first-degree relative if child < 4 years of age)
- History of dry skin in past year
- Onset in a child < 2 years of age
- Visible flexural dermatitis: includes dermatitis of forehead, cheeks and outer areas of limbs in children < 4 years of age
Atopic Dermatitis: Other clinical manifestations
- Hyperlinear palms
- Infraorbital shiners (Dennie’s lines)
- Food intolerances
- Secondary cutaneous infections: S. aureus, MRSA, HSV
- Intolerance to wool
- Increased itch with sweating
- Hyperpigmentation and lichenification
Atopic Dermatitis Labs
- Allergy skin tests
- IgE level- usually elevated; ImmunoCAP to specific antigens
- Skin culture
- Double blind food challenge
Atopic Dermatitis DDx
- Seborrhea: scalp and face
- Contact dermatitis: nickel dermatitis
- Scabies: intense itching
Atopic Dermatitis Medications
- Emollients: Cetaphil, CeraVe, Eucerin, Aquaphor, Theraplex
- Topical steroids: use mildest effective potency
- Non-steroidal creams: Elidel, Protopic
- Antibiotics for secondary infection: cephalexin (Check for MRSA)
- Antihistamines: hydroxyzine, diphenhydramine, cetirizine, Periactin
Atopic Dermatitis Nonpharmacological Treatments
- Daily soaking baths: warm water (not hot), don’t rub dry
- Avoid environmental irritants
- Elimination diet, if indicated
- Complementary treatments: biofeedback, massage, behavior modification, counseling
- Food intolerance: due to pharmacologic properties of food, or host susceptibility (Caffeine in coffee, tyramine in chocolate, Lactose intolerance)
- IgE mediated food allergy: more common in allergic children, particularly those with atopic dermatitis
- Non IgE mediated pediatric gastrointestinal syndromes
- Mechanism: On exposure to specific allergen, IgE fixed to mast cells causes release of chemical mediators such as histamine and leukotrienes
Food Allergy Prevalence
- Perception by public-20-25%
- Confirmed allergy (oral challenge): adults- 1-2%, infants/children-6-8%
- Personal or family history of atopy
- Rate 4 fold higher in children from families with parental asthma
- Maternal consumption of highly allergic foods during pregnancy and lactation?
Natural History of Food Allergies
- Most milk, egg, wheat and soy allergy resolve by 10-12 years of age
- Decreasing levels of food specific IgE predictive
- Allergy to peanuts, tree nuts and seafood persist
- Non-IgE mediated allergy: Infant forms resolve in 1-3 years. Toddler – adult forms more persistent
Manifestations of Food Allergy
- Cutaneous: pruritus, urticaria, angioedema, flushing
- Respiratory: nasal congestion, cough, wheeze
- Oral/GI: vomiting, diarrhea, pruritus of lip or tongue
- General: shock
- Symptoms generally occur within 1-2 hours after ingestion
- Milk: casein and whey proteins
- Eggs: albumin
- Peanuts: peanut oil and other legumes usually tolerated
- Tree nuts: sensitivity is usually lifelong
- Seafood: canned tuna and salmon usually tolerated. No increased risk from radiocontrast material.
- These foods account for ~90% of IgE-mediated food allergies
- Increasing incidence: sesame
- Rare causes of food allergy: chocolate, food additives, food dyes, MSG
- Sulfites can cause bronchospasm in 5% of asthmatics.
Food Allergy: Taking the History
- History of immediate symptoms after each ingestion.
- Check quantity of food, timing and reproducibility of symptoms, treatment required
- Cofactors: ?exercise
- Food diary: occasionally helpful
- Elimination diet: Do symptoms resolve with elimination?
- Avoid extensive restrictions for prolonged interval.
Food Allergy Diagnosis: Laboratory Studies
- Limited skin prick tests
- Six foods cause 90% of food allergy in children: Milk, Egg, Peanut, Wheat, Soy, Tree Nuts
- Positive predictive accuracy < 50%
- Negative predictive accuracy > 95% for IgE mediated sensitivity
- Specific Ig E levels: ImmunoCAP
- Especially useful in pts with severe atopic dermatitis, those with hx of life threatening reaction or those who can’t stop antihistamines.
- Decision points are available for milk, egg, peanut and fish predicting likelihood of reaction in 95% pts.
- No proven value of food specific IgG levels
Food Allergy Diagnosis: Food Challenge
- Considered the “gold standard”
- Eliminate suspected food and antihistamines for 2 weeks
- Give increasing doses of food every 10 minutes, totaling 8 gms of protein or one serving size
- Observe at least one hour after completion
- Be equipped with emergency meds/equipment
Food Allergy Treatment
- Elimination of offending food difficult in schools and restaurants
- labels may be vague or inaccurate
- “code words” and ”natural flavor”: often milk
- Patient education: Food Allergy and Anaphylaxis Network, registered dietitian
- Medic Alert bracelet indicating sensitivity
- Written emergency plan
- EpiPen or Epi Pen Jr at home and school
- Supervised oral desensitization trials underway
Fatal Food Anaphylaxis
- 150 deaths/year
- Risk: asthma, symptom denial, delayed epinephrine, previous severe reaction
- History: known allergic food
- Key foods: peanut, tree nut, shellfish
- Biphasic reaction
- Lack of cutaneous symptoms
Food Allergy Followup
- Periodic reevaluation for tolerance
- Food specific IgE levels
- Timing and decision to re-challenge based on: type of food allergy, severity of previous symptoms, allergen
Oral Allergy Syndrome
- Oral pruritus, rapid onset, rarely progressive
- Usually fresh fruits and vegetables
- Heat labile: cooked foods tolerated
- Cause: cross reactive proteins in pollen/food
- Offending Pollens and Affected Food Examples
- Birch → apples, apricot, carrot, cherry, kiwi
- Ragweed → banana, melon, cucumber
- Grass → cherry, potato, tomato
ADHD Preschool: 3-5
- Motor restlessness (always on the go)
- Insatiable curiosity
- Vigorous and often destructive play (breakage of toys and household objects; accidental injuries common)
- Demanding, argumentative
- Excessive temper tantrums (more severe and frequent)
- Low levels of compliance
ADHD School age: 6-12
- Easily distracted
- Homework poorly organized, contains careless errors, often not completed
- Blurts out answers before question completed (often disruptive in class)
- Often interrupts or intrudes on others and displays aggression (difficulties in peer relationships)
- Perception of “immaturity” (unwilling or unable to complete chores at home
ADHD Adolescent: 13-18
- Sense of inner restlessness
- School work disorganized and shows poor follow-through; fails to work independently
- Engaging in “risky” behaviors (speeding and driving mishaps)
- Poor self-esteem
- Poor peer relationships
- Difficulty with authority figures
- Disorganized, fails to plan ahead
- Forgetful, loses things
- Difficulty in initiating and finishing projects or tasks
- Misjudges available time
- Inattention/concentration problems
- May have job instability and marital difficulties
ADHD DSM Criteria
- Significant and age-inappropriate symptoms of inattention and/or hyperactivity/impulsivity
- 6 of 18 symptoms (9 hyperactive, 9 inattention)
- Have onset prior to age 7
- Cause some impairment in two or more settings
- Cause significant impairment in social, academic, or occupational functioning
- Are not better accounted for by another mental disorder
Etiology and Epidemiology of ADHD
- ADHD is one of the most highly heritable of all psychiatric disorders
- Family, twin, adoption studies; all support a central role for genetic factors
- Several environmental risk factors: Prenatal maternal substance use, Maternal depression, Negative parenting styles, Lead and other environmental exposures.
- Important to note that these factors collectively explain only a small proportion of the variance in the disorder
- Several recent studies have found that interactions among genes, environmental variables, and ADHD outcomes
- ADHD patients show significantly smaller brain size overall, as well as cortical thinning
- Affected areas include cerebellum and subcortical areas, as well as in specific regions thought to be associated with executive function (e.g., dorsal prefrontal cortex)
- Structural abnormalities associated with behavioral ratings and other aspects of functioning
- ADHD deficits in response inhibition and task-switching associated with differential activity in fronto-striatal regions
- ADHD deficits in divided attention tasks associated with basal ganglia inactivity
- Epidemiology: Worldwide estimate = 5.29% - not yet U.S. based. Many are misdiagnosed
ADHD Interventions without Conclusive Evidence of Efficacy
- Cognitive Therapy
- Individual Psychotherapy
- Chiropractic Treatments
- Food Allergy Treatments
ADHD Evidence Based Treatment
- Psychosocial / Behavioral Interventions
- Parent Training
- Classroom Interventions
- Summer Treatment Programs
- Interventions specific for adult patients
- Interventions specific to preschool age children
ADHD Stimulant Medications
- Methylphenidate: Ritalin/LA/SR, Concerta, Metadate ER, Methylin ER, Focalin/XR, Daytrana
- Dextroamphetamine: Dexedrine, Dexedrine Spansule, Vyvanse
- Mixed Amphetamine Salts: Adderall/XR
ADHD Non-Stimulant Medications
- Atomoxetine: Strattera
- Guanfacine: Intuniv (alpha2a adrenergic receptor agonist hypotensive agent)
- Clonidine: Kapvay (Catapres, alpha agonist hypotensive agent)
Stimulant ADHD Meds: Which symptoms show improvement
- ADHD Symptomatology: Inattention, Hyperactivity, Impulsivity
- Associated Features: Noncompliance, Aggression, Social interactions, Academic productivity and accuracy
Stimulant ADHD Meds: Which will NOT show improvement
- Academic Achievement
- Organizational Skills/Study Skills
- Positive Social Skills/Interpersonal Skills
- Athletic Skills
ADHD: Side effects in stimulants
- Common Side Effects: Sleep Problems, Decreased Appetite
- Less Common Side Effects: Headaches, Stomachaches, Irritability, Dysphoria, Behavioral Rebound
ADHD: Side effects in non-stimulants
- Common Side Effects: GI upset, Nausea, Somnolence, Sedation, Fatigue
- Less Common Side Effects: Hypotension/Bradycardia
Pediatric Blood specimens
- Percutaneous Umbilical Blood Sampling (PUBS)
- Umbilical cord
- Capillary (heel, finger)
- Peripheral vessels (arteries/veins)
Pediatric Urine specimens
- Suprapubic tap
- Urine collection bag
- Premature infants need more testing & have less blood (total blood volume may be < 100ml)
- Removal of blood for lab testing is most common reason for transfusion in neonatal ICU
- Microsamples from capillary puncture
- Microtechnology: Microanalysis, catheters or monitors for continuous analysis, transcutaneous electrodes, breath analysis
- Phlebotomists experienced in pediatric techniques (smaller vessels, uncooperative patients)
- Smaller vacutainer tubes: Micro tubes hold 0.5 ml, Pediatric tubes hold 2ml
- Butterfly needles used more
- Pediatric laboratories specialize in using instrumentation handling smaller sample volumes & commonly performed tests; may be in close proximity to pediatric ward
- Screens for metabolic & genetic conditions that could be severe (mental retardation) or lethal if not detected
- Conditions not detectable on routine neonatal physical exam
- If results are unavailable to primary provider at early visit, repeat screen
- Ideal timing: 24-72 hours, some repeat at 7-14 days (false-negative PKU)
- State variation
- All states: PKU, congenital hypothyroidism
- Most states: Galactosemia, sickle cell disease
- Some states: Congenital adrenal hyperplasia, homocystinuria, maple syrup urine disease, biotinidase deficiency, tyrosinemia, cystic fibrosis, toxoplasmosis, others
- Genetic screening tests are performed on one tiny sample of blood obtained by pricking the baby's heel. The blood is allowed to dry on a piece of filter paper, which is sent to the State Lab for testing
Newborn Screening Specimen Requirements
- Capillary specimen from heel stick
- Filter paper blood spot samples
- Include date/time/feeding source on requisition provided by State Lab
- NC: all samples mailed to State Laboratory of Public Health within 24 hours of collection
Newborn Screening Collection Technique
- Warm heel 3-5 min.
- Cleanse site with alcohol, dry with sterile gauze.
- Puncture lateral heel, wipe first drop of blood away with sterile gauze, allow another large drop to form.
- Apply blood to one side of filter paper to fill circles.
- Dry paper 3-4 hours on flat surface
Newborn Screening Limitations
- False negative PKU if tested prior to 24 hours of age
- Need repeat by 7 days if tested prior to 24 hours or hospital discharge without sampling
- Alcohol residue may dilute specimen
- Inaccurate results with blood supersaturation, or contamination of paper with water, lotions, feeding formula, hand creams, antiseptic solutions
North Carolina Newborn Screening
- 35 disorders
- Amino acid disorders (7)
- Organic acid disorders (10)
- Fatty acid oxidation disorders (8)
- Other (10)
- Newborn Screening Followup
- Positive screen: Health care provider notified. Confirmatory studies done. Close monitoring of child. Treatment as indicated.
- Negative screen in the presence of disease symptoms needs further testing.
Blood Type & Screen and Direct Antibody Screen
- Cord blood collected on all infants at birth
- Blood type & DAT (if mother is type O or Rh-negative)
- Used to diagnose HDN—hemolytic disease of the newborn— (& for pretransfusion testing)
- Infants < 4 months old rarely make red cell alloantibodies
- Positive antibody screen usually represents passive maternal antibody
- Positive DAT is often consistent with maternal antibody attached to the infant’s red cells
- This may result in hemolytic disease of the newborn (HDN)
- Unconjugated & conjugated bilirubin
- Assess risk for bilirubin encephalopathy (kernicterus) in neonates
- Risk stratification by postnatal age in hours, birth weight & total bilirubin concentration
- Interpretation varies for preterm vs term infant
- Male = Female reference ranges
- The best way to accurately measure bilirubin is with a small blood sample from the baby’s heel.
- Some hospitals are testing bilirubin using a light meter that is placed on the baby’s head. This results in a transcutaneous bilirubin (TcB) level. If it is high, a blood test will likely be ordered for confirmation.
- Limitations: Do not draw while bili-lamp is turned on for phototherapy. Avoid exposure to ambient light during transport or testing (photodegradation). Avoid hemolysis (do not milk or squeeze foot during skin puncture). Centrifuge sample to separate serum/plasma from cells.
- Rapid glucose testing at birth, especially for infants at risk for hypoglycemia
- Diabetic mother
- Glucose < 45 mg/dl: Confirm & treat
TORCH (perinatal congenital infection)
- Other (syphilis, varicella zoster, parvovirus, HIV, Hep B, Borrelia burgdorferi)
- Cytomegalovirus (CMV)
- Herpes Simplex (HSV)
- Group of perinatal congenital infections
- Parasitic, bacterial, & viral pathogens
If suspected TORCH infection, consider:
- Cultures (rubella, CMV, HSV, GC, TB)
- Antigen testing (Hep B, Chlamydia)
- Antibody testing (IgM or increasing IgG for Toxoplasmosis, syphilis, parvovirus, HIV, Borrelia)
- Screen neonates with risk or symptoms of anemia or polycythemia vera at 3-6 hours
- Iron deficiency is the most common nutritional deficiency in the US
- Consider elective early screening in high-risk children: 9-12 months (usually 12). 15-18 months. Annually through age 5 (some continue annually)
- Universal anemia screening at 9 & 15 months in communities with anemia prevalence > 5%
- High risk (at 4 months): history of prematurity or low birth weight, diet (use of low-iron formula or not receiving iron-fortified formula)
- High risk (after one year): limited access to food, diets low in iron (vegetarian)
- For high risk children (if newborn screen results are not available/known)
- Detects disease or trait:
- Hgb C disease (FC)
- Hgb E disease (FE)
- Sickle cell disease (FS, HB S/S)
- Sickle/Hemoglobin C disease (FSC, HB S/C)
- Sickle/Hemoglobin E disease (FSE, HB S/E)
- If positive, refer & test biological parents
Blood Lead Level
- Childhood lead poisoning is one of the most common pediatric public health problems in the US
- Entirely preventable, & children are especially susceptible to toxic effects
- Mostly asymptomatic
- Initial screening test is direct blood lead measurement or questionnaire
- Lead poisoning in children is defined as a venous blood lead level (BLL) ≥ 10 mcg/dL
- Guidelines: screen at least once before age 6 without risk determination, or use lead risk exposure questionnaire
- Ideal: test at 12-24 months (or upon first entry to health care system after age 12mo) & repeat in 12 months for high risk kids
- Multitier approach for testing & follow-up
Blood Lead Screening Test
- Fingertip capillary specimen
- Scrub site (lateral aspect of middle fingertip) for 20 seconds with alcohol, dry with gauze, lancet to stick finger, wipe off first drop of blood & collect 3-4 drops (150-250µl) into capillary tube
- Transfer specimen to anticoagulated microtainer tube & mix
- Test refrigerated sample within 2 weeks
- Diagnostic Test: Must be a venous specimen. Pediatric EDTA tube, specially treated to avoid contamination from lead in the glass (royal blue top tube)
Lead Levels and Follow-up Procedure
- < 10 µg/dL: If screen, rescreen at 24 months. If diagnostic, retest q 2-3 mo until 3 consecutive levels < 10
- 10-19 µg/dL: Venous diagnostic test within 3 months. If diagnostic result, retest q 2-3 months until 3 consecutive levels < 10. If persists 10-19 range, refer for environmental investigation.
- 20-44 µg/dL: Venous diagnostic test within 1 week. If diagnostic result, refer for medical evaluation & environmental investigation. Retest q 2-3 months until 3 consecutive levels < 10.
- ≥ 45 µg/dL: Venous diagnostic test ASAP. If diagnostic result, refer for medical evaluation, chelation therapy & environmental investigation. Retest q 2-3 months until 3 consecutive levels < 10.
Tuberculosis Skin Testing (TST)
- Latent Tuberculosis infection (LTBI) testing for all children at high risk:
- Symptoms or CXR suggesting TB (dx, not screening)
- Contact to person with known or suspected TB
- Birth, residence or travel to a region with high TB prevalence
- Is or has contact with a prisoner, migrant farm worker, illicit drug user, homeless person, or someone with HIV or AIDS
- Tuberculin Skin Test (TST) is the only recommended screening test
- Begin TST at age ≥ 3 months
- Repeat annually if TB risk persists
Routine screening urinalysis is not recommended in children, except if family history of hereditary kidney disease
Cholesterol/Lipids AAP & AHA recommendations for children > 2 years old
- Parent with total chol > 240mg/dL: Total cholesterol (fasting)
- Family history of cardiovascular disease before age 55 years: Lipid panel (fasting)
- All children: Prudent diet
- For ages 2-18 years, total cholesterol <170mg/dL is normal, 170-199 is borderline, and >200 is elevated.
- Routine screening in non-pregnant adolescents is not recommended
- Selective screening for at risk for iron deficiency
- Screen females with: Heavy menses, Chronic weight loss, Poor nutrition or vegetarian diets, Athletes
- Consider annual dipstick for leukocyte esterase in sexually active adolescents as a proxy for Chlamydia/Gonorrhea testing (higher risk of UTI and STI)
- Questionable benefit of urinalysis at sports participation physicals
- Complete UA/microscopic if family history of hereditary kidney disease
Sexually Transmitted Infection Testing
- Sexually active males & females, especially if:
- Multiple partners
- Early onset of sexual activity
- STI symptoms
- History of child sexual abuse
- Gonorrhea, chlamydia, trichomonas, syphilis, HIV
- No change in sampling techniques compared to adults
- NOTE: PARENTAL CONSENT/PRESENCE NOT NEEDED
Cervical Cancer Screening
Current guidelines: begin screening with Pap test at age 21
- We d/c many babies at 24-36 hours, but the ductus arteriosus doesn’t close until ~48 hours, so if you send them home, could send home someone who could have hypoplastic heart syndrome and die at home when the ductus closes.
- 95% of what we see as ‘heart dz’ in kids presents by the end of the first year of life. (But these babies do wonderfully in utero; hard to detect before birth for this reason.)
Peds Heart Dz Presents in 3 Ways
- Murmur: 95% present before 18mo (but ~70% of normal kids have this too)
- Congestive heart failure: 95% present before 6mo (Does NOT present as wet lungs.)
- Central cyanosis: 95% present before 3mo (Central mucosa is blue. Assumes 3-5g of desaturated hemoglobin circulating around. This is NOT the same as ACROcyanosis of the hands and feet; that is normal and just happens bc of poor temp regulation.)
Pediatric Heart Defects and Mortality
- 50% mortality by ~1wk of all newborns with heart defects, no matter what we do.
- They do well in utero bc of foramen ovale and PDA.
- “Transitional circulation” is what we do in pediatrics.
- Organ growing fastest in utero = BRAIN
- Organ working hardest in utero = HEART
- One adaptation is a different type of hemoglobin… fetal Hb, with very high affinity for oxygen, since they’re in an anaerobic environment.
There are four heart defects that comprise 95% of these first-week deaths:
- Hypoplastic left heart syndrome: LV didn’t develop normally and proximal aorta is small and mitral valve is small. Lethal if you miss it and send them home at 24 hours, bc they have ductal-dependent blood flow.
- Congenital aortic stenosis: not the kind assoc with bicuspid valve dz (like we see in older folks), but very malformed valves (usually only 1 cusp). These kids usually have subendocardial ischemia as well; ventricles are pretty flaccid.
- Coarctation of the aorta: narrowing, right at the site of the insertion of the ductus arteriosus.
- Transposition of the great vessels: aorta is on RV and pulmonary artery is on LV, so there is blue blood going back and forth to the periphery and red blood going back and forth to the lungs. Unless there is a communication somewhere, once the ductus closes, kids become prohibitively cyanotic.
Fetal Vascular Resistance
- In the fetus, pulmonary vascular resistance is significantly greater than the systemic vascular resistance, because the dilation of the arterioles controls BP in adults… but in babies, it’s the placenta that controls this.
- So SVR is very low in the fetus, and PVR is high bc lungs are collapsed/fluid-filled. Takes ~6mo after birth for PVR to completely drop to low/adult levels… and can go right back up in presence of meconium, etc.
No shunts in adult. 3 shunts in fetus:
- Ductus Venosus: closes immediately when you ligate the umbilical cord
- Foramen Ovale: looks like a dog door; flap closes immediately upon first breath, but doesn’t adhere to atrial septum for 6-8 months. Possible to have patent foramen ovale where the flap never became adherent, ~30% of population. VERY dangerous in deep-sea diving… bubbles can go across PFO and make it look as though you’ve had a stroke. Need hyperbaric chamber. Also dangerous in pregnancy bc Valsalva to push placenta out → clot/air in IVC which can cross the PFO, so they finish pregnancy/delivery with a hemiparesis that we cannot fix.
- Ductus Arteriosus: closes at 24-48 hours. Sensitive to prostaglandins; can keep them open. At birth, have to transition; start off with LV output 40-45% and RV output 55-60%, then have to switch so that LV output is equal to RV output, which = 100%.
There is NO Starling mechanism in the first year of life
Can’t increase stroke volume, so increase HR instead, at any stimulus.
The way the human heart is put together is actually for FETAL circulation, not adult!
- The vessels that take the oxygenated blood to the brain and heart (2 most important organs) are not on the R side of the heart; they’re on the L side.
- That’s why the foramen was created; to allow the blood with the highest O2 sat available to the fetus to get over to the L side of the heart.
- Able to do this bc the RV is thick and thus difficult to fill. LV isn’t hypertrophied, so less resistance.
- IVC sits at an offset to the RV as compared to the SVC. This was purposeful!
- All the vessels that go to organs that desperately need blood flow come off the aorta BEFORE the ductus/descending aorta.
- Coronaries come off first, then carotids to the brain, and then the ductus arteriosus, which lets blood go to the lungs.
Tricuspid atresia (no tricuspid valve)
- The worst congenital defect that affects the R side of the heart.
- Do well in utero, but once PDA closes, they can’t get oxygen.
Cardiology: At birth…
- First thing babies do is cry. O2 dilates alveoli, drops pulmonary resistance. This means pulmonary blood flow increases, therefore pulmonary venous return also increases. Left ventricle stretches to accommodate (but takes 6mo to appropriately hypertrophy).
- Next, we cut the umbilical cord, which closes the ductus venosus and makes systemic resistance go way up… and since the left atrial pressure goes up, the foramen ovale starts to close.
- If someone is born with aortic stenosis or coarctation, will present as SHOCK, bc they lose their cardiac output. This is bc LV continues to dilate to accommodate the excess.
- With transposition of the great vessels, you have a depleting circuit. “Bluest kids that you will see,” especially when they try to eat.
- Immediately after birth, need to give prostaglandins and keep foramen ovale patent long enough to get them to a major hospital.
- Then, put a balloon into the atrium and give them an ASD to hold them over for long enough to let their lactate level drop so that we can put them on a heart-lung machine 5-7 days later and do the big surgery (and repair the ASD at the same time).
- Need to do 2 tests: pulse ox and BP. Should do BP in right arm plus one of the legs.
- BP will be higher in legs bc of gravity/pulse amplification… a wave in a pipe going south picks up velocity with gravity.
- We use the right arm and not the left bc coarctations occur close to the takeoff of the L subclavian artery, and if this artery is involved in the coarctation, the BP in this arm will fool you… the use of the L arm and L leg would make you think this was a healthy baby.
- Also check lower extremity pulses… i.e. dorsalis pedis. (Or femoral, but babies will flex hips. If they have pedal pulses, they have femoral pulses.)
- Baby with sat of 90%, looking ok… what do you do? Not echo just yet… GIVE OXYGEN at 100% and do 2 blood gases, 15 minutes apart. (Blood gases are $100, echo is $3000.)
- If they don’t respond, THEN call cardiology. Because 90% is NOT normal… anything consistently below 95% needs these tests.
- Look at O2 sat on room air and then on O2 (will go up to 99-ish), and then also look at PO2.
- If you don’t smoke and you’re in good condition, a PO2 of 600 is about the maximum.
- Minimum that you should remember (clinical pearl!) is 220… this is what you at LEAST must be.
- Should rise with 100% O2… but if you have cyanotic heart dz, both the PO2 and the O2 sat will stay about the same.
- Hemoglobinemia is another possibility… this will get better if given enough time.
- If you give 100% O2 and put on ventilator, pt will normalize… might not get much above 220, but will at least reach 220.
- Heart failure: mismatch btwn supply and demand. Not necessarily always ‘pump failure’; certain circumstances (usually in adults) where there are other mechanisms.
- Gram-neg sepsis is one big one… demands of periphery far outstrip the ability of the pump to meet those demands.
- Thyroid storm (thyrotoxicosis) is another thing where the demands of the periphery are heightened.
- Also severe anemia, as in the days of lead poisoning.
- Also nutritional deficiencies.
- All these things are a lot more common in developing countries.
Peds Volume Overload
- volume overload is usually bc of VSD
- pressure overload is bc of coarctation of aorta
- change in ionotropic state is usually due to substrate deficiency – HYPOGLYCEMIA.
- Neonatal heart is extremely sensitive to glucose.
- Only example of REVERSIBLE heart failure that we know of.
- Also: myocarditis due to things like coxsackie B, RMSF, JRA, SLE, dermatomyositis, any kind of mixed connective tissue dz.
- Also, rheumatic heart dz is still prevalent.
- Any systemic mitochondrial dz that you know of can cause myocarditis.
- Also: dilated cardiomyopathy. We’re not smart enough yet to know why this happens.
- Also drugs.
Adult Volume Overload
- volume overload is usually bc of aortic/mitral insufficiency
- pressure overload is almost always bc of HTN
- change in ionotropic state is usually due to acute MI… but also possible to be due to a-flutter.
- If atria go 300x/minute, ventricles do NOT follow suit in an adult.
Kids, on the other hand, can have 1:1 A-V conduction, meaning SVT.
- They can seem perfectly happy in SVT for an hour or so, until the “bottom falls out”.
- They have a 3rd-degree heart block (HR ~60bpm), which is assoc with 3rd-trimester lupus.
- Remember, this is bad bc babies have no Starling mechanism.
- There is a vasculitis assoc with lupus that attacks the conduction system of the kids.
- Develop 3rd-degree heart block in utero and sometimes have to be delivered early so we can pace them at a normal level.
If myocardial contractility drops…
- then LVEDV increases → LA pressure increases → pulmonary venous pressure increases → edema (in an adult.
- Babies don’t get edema bc they have baroreceptors in their lungs.
- Reflex to brain makes them increase their RR to try to blow off the fluid.
- Babies’ normal periodic breathing is due to brainstem being not too smart yet.
- So when their RR goes up, they lose the ability to breathe cyclically.
- Babies’ insensible loss is normally 40 cc/kg, but this QUADRUPLES when a baby’s RR goes from 40 to 80.
- Newborn baby’s total blood volume is only 80 cc/kg.
- “Their diuretic is tachypnea.” That’s why they don’t have rales… bc their insensible losses go up so high.
- “If you wait for rales, that baby will be almost dead.”
Back to the increase in pulmonary venous pressure…
- this means that the RV volume increases, so → RA volume increases, so → liver increases in size.
- This happens in a matter of seconds!
- Tachypnea and hepatomegaly are the first two signs of heart failure in babies.
- Also tachycardia.
If myocardial contractility goes down, renal blood flow also goes down, meaning GFR decreases.
- This affects the renin/angiotensin II system.
- Angiotensin II is a vasoconstrictor.
- Renals and adrenals are affected… lose cortisol and get an increase in catecholamines.
- Takes these babies a long time to eat… an hour, as opposed to 20 minutes.
- Feeding is like exercise to babies.
- Also, caloric needs go way up when the heart fails.
Tracheoesophageal Fistula Clinical manifestations
- The most common forms of TEF occur with esophageal atresia; the H-type TEF without atresia is uncommon, as is esophageal atresia without TEF.
- Associated defects include the VACTERL association: vertebral anomalies (70%), anal atresia (imperforate anus) (50%), cardiac anomalies (30%), TEF (70%), renal anomalies (50%), and limb anomalies (polydactyly, forearm defects, absent thumbs, syndactyly) (70%).
- A single artery umbilical cord is often noted.
- Infants with esophageal atresia have a history of polyhydramnios, exhibit drooling, and have mucus and saliva bubbling from the nose and mouth.
- Patients with TEF are vulnerable to aspiration pneumonia.
- When TEF is suspected, the first feeding should be delayed until a diagnostic study is performed.
Tracheoesophageal Fistula Lab and Imaging Studies
- The simplest test for TEF is to attempt gently to place a nasogastric tube via the mouth into the stomach.
- The passage of the tube is blocked at the level of the atresia.
- Confirmation is by chest x-ray with the tube coiled in the esophageal pouch.
- Air can be injected through the tube to outline the atretic pouch.
- Barium should not be used because of extreme risk of aspiration, but a tiny amount of dilute water-soluble contrast agent can be given carefully.
Tracheoesophageal Fistula Treatment and Prognosis
- The treatment of TEF is surgical.
- A thoracotomy provides access to the mediastinum via extrapleural dissection.
- The fistula is divided and ligated.
- The esophageal ends are approximated and anastomosed.
- In some cases, primary anastomosis cannot be performed because of a long gap between the proximal and distal portions of the esophagus.
- Various techniques have been described to deal with this problem, including pulling up the stomach, elongating the esophagus by myotomy, using intestinal segments to span the gap, and delaying the anastomosis and providing continuous suction to the upper pouch, allowing for growth.
Tracheoesophageal Fistula Complications
- The surgically reconstructed esophagus is not normal and is prone to poor motility, GER, anastomotic stricture, recurrent fistula, and leakage.
- The tracheal cartilage is also malformed; tracheomalacia (a soft trachea that collapses easily) is common.
- Onset: acute or gradual
- Location: periumbilical- lower abdomen
- Radiation: back
- Quality: alternating cramping (colic) and painless periods
- Distention, obstipation, bilious emesis, increased bowel sounds
- An abdominal wall defect at the umbilicus caused by failure of the intestine to return to the abdomen during fetal life.
- The bowel remains within the umbilical cord and is covered by peritoneum and amniotic membranes.
- This defect is associated with other congenital anomalies, especially cardiac defects, Beckwith-Wiedemann syndrome (somatic overgrowth, hyperinsulinemic hypoglycemia, risk for Wilms tumor), and intestinal complications.
- Treatment is surgical closure, which sometimes must be performed in stages to fit the bowel into a congenitally small abdominal cavity.
- An abdominal wall defect not involving the umbilicus, through which intestinal contents have herniated.
- In contrast to omphalocele, the bowel is not covered by peritoneum or amniotic membrane.
- As a result, prolonged contact with the amniotic fluid typically causes a thick, exudative peel on the exposed bowel.
- Gastroschisis is not associated with extraintestinal anomalies, but segments of intestinal atresia are common.
- After surgical reduction of the defect, return of normal bowel function may be slow and requires prolonged parenteral nutrition for infants with long atretic segments (short bowel syndrome) and infants with a thick peel.
- GI tract bleeding can be an emergency when large volume bleeding is present, but the presence of small amounts of blood in stool or vomitus is also sufficient to cause concern.
- Evaluation of bleeding should include confirmation that blood truly is present, estimation of the amount of bleeding, stabilization of vital signs, localization of the source of bleeding, and appropriate treatment of the underlying cause.
- When bleeding is massive, it is crucial that the patient receive adequate resuscitation with fluid and blood products before moving ahead with diagnostic testing.
GI Bleeding DDx
- In newborns, blood in vomitus or stool may be maternal blood swallowed during delivery or during breastfeeding.
- Blood-streaked stools are particularly associated with allergic colitis or necrotizing enterocolitis in this age group, but small streaks of bright red blood also can be seen in the diaper of infants with an anal fissure or milk allergy.
- Coagulopathy, peptic disease, and arteriovenous malformations can cause upper or lower GI tract bleeding in neonates.
- In infants up to 2 years of age, peptic disease or nonsteroidal anti-inflammatory drug (NSAID)-induced gastric injury causes hematemesis; esophageal varices also occur in this age group with portal hypertension caused by conditions such as biliary atresia.
- After this age, peptic disease and esophageal varices continue to be common causes of hematemesis.
- Rectal bleeding in older children is likely to be caused by a juvenile polyp, IBD, Meckel's diverticulum, or nodular lymphoid hyperplasia.
- The presence of diarrhea and mucus in the stool particularly suggests IBD or bacterial dysentery.
- When rectal bleeding is massive and painless,
- Meckel's diverticulum is a common cause.
- The bleeding caused by polyps or lymphoid hyperplasia can be significant, but seldom is profuse enough to result in changes in pulse or blood pressure
GI Bleeding Distinguishing Features
- Red substances in foods or beverages occasionally can be mistaken for blood.
- A test for occult blood is worth performing whenever the diagnosis is in doubt.
- Blood may not be coming from the GI tract.
- The clinician should ask about cough, look in the mouth and nostrils, and examine the lungs carefully to exclude these sources of hematemesis.
- Blood in the toilet or diaper may be coming from the urinary tract, vagina, or even a severe diaper rash.
- If the bleeding is GI, the clinician needs to determine whether it is originating high in the GI tract or distal to the ligament of Treitz.
- Vomited blood is always proximal.
- Rectal bleeding may be coming from anywhere in the gut.
- When dark clots or melena are seen mixed with stool, a higher location is suspected, whereas bright red blood on the surface of stool probably is coming from lower in the colon.
- When upper GI tract bleeding is suspected, a nasogastric tube may be placed and gastric contents aspirated for evidence of recent bleeding in the proximal gut
- The location and hemodynamic significance of the bleeding can also be assessed by history and examination.
- The parents should be asked to quantify the bleeding.
- Details of associated symptoms should be sought.
- The vital signs should be evaluated and assessment for orthostatic changes performed when bleeding volume is large.
- Pulses, capillary refill, and pallor of the mucous membranes should be assessed.
- Laboratory assessment and imaging studies should be ordered as indicated
GI Bleeding Treatment
- Treatment of GI bleeding should begin with an initial assessment, rapid stabilization of shock, if present, and a logical sequence of diagnostic tests.
- When a treatable cause is identified, specific therapy should be started.
- In many cases, the amount of blood is small, and no resuscitation is required.
- For children with large volume bleeds, the ABCs of resuscitation (check airway, breathing, and circulation) should be addressed first.
- Oxygen should be administered and the airway protected with an endotracheal tube if massive hematemesis is present.
- Two large bore IV lines are needed to restore adequate circulation with fluid boluses or transfuse with packed red blood cells as required.
- Frequent reassessment is needed
- Regurgitation is normal in infants.
- Pathologic reflux is defined by sx
- Feeding difficulty; FTT
- Pulm sx: apnea, aspir, RAD
GER Medical treatment
- Thickening: 1 tbs cereal /2 oz, buys time, usually a transient problem
- Acid blocker: H2 or PPI
- Prokinetic: problematic. All have serious side effects. Reglan can cause extrapyramidal sx, movement disorders, and some cause arrhythmias.
GER in children
- Developmental reflux: usually resolves by 18 months old.
- Complications of GERD: esophageal stricture, Barrett’s esophagus, asthma, sinusitis, feeding disorder, tooth enamel erosion, etc.
- Medical vs. surgical management: try to treat medically and reserve surgery to last resort
Chronic Abdominal Pain
- Characterize pain: timing, location, quality, modifying factors.
- Location of Visceral Pain
- Upper abdomen: Peptic, NUD, pancreatitis, GB
- Mid abdomen: Small bowel, IBD, appendix, right colon lesions, FUNCTIONAL
- Lower abdomen: Constipation, IBS,IBD, renal, GU, appendix
- Quality: crampy, burning, bloating, stabbing, steady vs intermittent, intensity
- Pain modifiers: Meals, Bowel movements, Response to treatments, Sleep, stress, distraction
- Evaluation: according to pain character - no one battery of screening tests.
- Treatment: if empiric trial, consider character of the pain.
Functional (Nonorganic) Abdominal Pain
- Common in children (10%).
- Pain is poorly characterized.
- Poorly localized / periumbilical.
- May be modeled after a transient illness or a family member’s sx.
- Exacerbated by stress - a bonus but can be misleading.
- Often have sx for years, but good growth and overall health.
GI causes of pain
- Peptic disease
- Sorbitol (dietary): nonabsorbable sugar substitute, also in apples and pears so check for juice use
- Inflammatory bowel disease
- Postviral gastroparesis
- Congenital anomalies: GI, GB, pancreas
- GI polyp(s)
Non-GI causes of Pain
- Functional: FGID, nonulcer dyspepsia, irritable bowel syndrome.
- Renal: Pyelonephritis, Hydronephrosis, Renal stone
- Medications: ADHD meds common
- Abdominal migraine
- Sickle cell crisis
- (PID) Pelvic Inflammatory Disease
- (HSP) Henoch Schönlein Purpura
- (FMF) Familial Mediterranean Fever
- Vertebral discitis or tumor
- (SLE) Systemic Lupus Erythematosus
- Porphyria from disruption in production of heme from porphyrins
- Pneumonia (acute)
- Infrequent, large stools
- Painful BM ± blood
- Fecal soiling
- Abdominal pain, poor appetite, lethargy
- Chronic diarrhea (really overflow soiling)
- Medications (e.g., narcotics, anticholinergics, chemotherapy)
- Spina bifida
- Tethered cord
- Anterior displacement of the anus (more common in girls)
- Perianal disease
- Intestinal pseudo-obstruction
- Lead intoxication
- Stool pattern
- Age at onset, toilet trained?
- Meconium - in 1st day of life
- Stool holding
- Fecal soiling
- Perianal disease
- Previous treatment and response
- How well will the child take medications?
- Sensitivity to cold, coarse hair, etc (hypothyroid)
- Developmental & psychosocial hx
- Recurrent UTIs? (distended sigmoid compresses neck of bladder)
Constipation Physical Exam
- Abd mass/distension
- Rectal exam
- perianal soiling, tags, erythema
- position of anus
- anus lax vs tight
- mass of stool in ampulla
- gush of stool
- Pilonidal sinus / tuft of hair
- Spina bifida
- Neuro exam: LE DTRs, anal wink
- Stigmata of hypothyroidism
- Developmental delays / autism
Constipation Tests—when indicated
- KUB x-ray
- Barium or water soluble enema x-ray series
- Rectal bx
- Anorectal manometrics
- MRI of spine
- Culture anus for group A strep
- Blood tests: thyroid, Ca, lead, celiac
- Sweat test
- UGI-SI x-rays, US of urinary bladder
- Colonic manometry
- Starts with acute episode of constipation
- Self perpetuating
- Difficult to pass hard, large stool
- Painful bowel movement leads to stool holding
- Kids don’t like to stool at school
- Cleanout (disimpaction)
- Maintenance - stool softener
- Behavior modification
- Diet (adequate fiber)
Why is chronic rectal distention a problem?
- Decreases strength of rectosigmoid contraction
- Increases threshold for conscious need to defecate, lose urge to defecate and can’t feel it come out
- Promotes relaxation of the internal anal sphincter causing soiling. Plug of stool distends the rectum and some leaks around it.
- Sx: abdominal pain, decreased appetite, vomiting, irritability
- Constipation with overflow
- Neurogenic: spina bifida, tethered cord, spinal cord tumor
- Anal anomaly: imperforate anus repair, secondary destruction (Hirschsprung’s repair, Crohn’s perianal disease)
- Treat underlying condition
Early Adolescence: 10-14 years old
- Rapid growth and development secondary sex characteristics
- Girls often develop 1-2 years earlier than boys
- Average age of menarche: African Am 12.2 years, White 12.9 years
- Average weight for first menarche: 48kg (~100lbs)
- Body Image Concerns: “Am I normal”? Concerned with how they deviate from their peers. Privacy conscious, easily embarrassed. Curious about opposite sex, but more comfortable with same sex
- Cognitive Development: Initiation of abstract reasoning, but still mostly concrete in thinking. Will need concrete answers to health questions. Able to better express themselves through speech.
- Struggle over Independence/ Dependence: Testing of authority. Shift from parents to independent behavior. Void created by separation from parents, now filled by friends
- Peer Group Involvement: Friends are a source of comfort. Peers become increasingly more important. “Fitting in” is a critical concern. Peer contact is typically with same sex
- Identity Development: Daydreaming. Vocational goals (vague/ unrealistic). Own value system. Emergence of sexual feelings. Lack of impulse control- seek immediate gratification (risk-taking behavior).
Middle Adolescence: 15-17 years old
- Decrease in pubertal growth rate
- Increased intensity of emotions
- Self-centered focus
- Body Image: Improved comfort with body. Increased time on looks.
- Cognitive Development: Increased intellectual ability. Abstract thinking improves.
- Independence/Dependence Struggles: Intensifies. Difficult parent/child relationship. Anticipatory guidance is very critical during visit.
- Peer Group Involvement: Very important. Dating activities (sexual experimentation). Extra-curricular involvement- clubs, sports, gangs, other groups.
- Identity Development: Increased creativity. More realistic vocational aspirations. Feeling of omnipotence and immortality.
Late Adolescence: 18-21 years olds
- Less self-centered
- Improved self-identity
- “Emergent Adults”
- Period of idealism
- Independence/ Dependence Struggle: Independent decisions. Still rely on parents for assistance.
- Peer Group Involvement: Social relationships shift from group to individual.
- Identity Development: Practice vocational goals. Beginning of financial independence. Further refinement personal values- moral, religious, sexual. Period of idealism. Ability to delay, compromise, set limits. Interests are more stable.
- Primarily psychosocial factors:
- Unintended pregnancy
- Substance abuse
- Smoking (Tobacco abuse)
- Dropping out of school
- Running away from home
- Physical violence
- Juvenile delinquency
- Approx 900,000 adolescents yearly
- 78% are unintended (accounting for ¼ of all unplanned pregnancies)
- Rate about 2x higher than other developed countries
Adolescent Socially/sexually transmitted infections
- ~19 million new infections/year— almost half of them among young people 15 to 24 years of age
- Chlamydia most commonly reported STI
- Chlamydia case rate for females in 2007 was almost three times higher than for males
Adolescent Substance abuse
- High School Students in past 30 days(2009)
- 42% drink Alcohol
- 20% used marijuana
- 19.5% smoked cigarettes
- Dropping out of school
Adolescent Psychosocial Causes of Morbidity
- Depression: 72% of teens have mild symptoms of depression. 14% have dx of Major Depressive Disorder
- Running away from home
- Physical violence: 27% been in a physical fight. Male>>>Female. 82% of adolescent homicides are male
- 54% of the female rape victims were less than 18 years of age, and 22% were less than 12 years of age when they were first raped.
Adolescent Legal Issues
- NC law: Any minor can give effective consent for medical services for the prevention, diagnosis, and treatment of…
- Venereal diseases
- Pregnancy (abortion is the exception)
- Abuse of controlled substances/alcohol
- Emotional disturbances
- This section does not authorize the inducing of an abortion, performance of a sterilization operation, or admission to a 24 hour facility
- Emancipated minors may consent to any medical treatment for themselves or child
- Emancipated minors: These are children who live away from home, are no longer subject to parental control, are economically self-supporting, are married, or are members of the military.
- Emergencies: In a medical emergency, a minor may be treated without consent of parents if, in the physician's judgment, the delay resulting from attempts to contact parents would jeopardize the life or health of the minor.
- Mature minor rule: An emerging trend in the law is the recognition that many minors are sufficiently mature to understand the nature of their illness and the potential risks and benefits of proposed therapy and, therefore, should receive such treatment on their own consent. This is particularly the case when the care is low risk, will benefit the minor, and is within established medical practice standards. In these cases, the physician should document that the adolescent has acted in a responsible manner.
Guidelines for Adolescent Preventive Services (GAPS) Recommendations
- Annual Routine Visits between 11-21 years.
- Developmentally appropriate and culturally sensitive with confidentiality ensured.
GAPS Questionnaire (Adolescent)
- Identifying data
- Why did you come to the clinic today?
- Medical History
- Health Profile
GAPS (Parent/Guardian) Questionnaire
- Identifying Information
- Adolescent Health History
- Family History
- Parental Concerns
- open questions
- What seems to be the greatest challenge for your teen?
- What is it about your teen that makes you proud of him or her?
- Is there something on your mind that you would like to talk about today?
- Can we share what makes you proud with your teen?
Adolescent Medical History with Special Emphasis on Teen Social Issues
- Home: Household composition; family dynamics and relationships; living and sleeping arrangements; recent changes.
- Education & Employment: School attendance, absences, suspensions; ever failed a grade; grades as compared with previous years; attitude toward school; favorite, most difficult, best subjects; special educational needs; goals for the future. Ask about employment, working > 20hrs/week associated with negative outcomes, do they have to work to support family.
- Activities: What do with friends and family for fun? sports participation, church groups or other organized activities.
- Drugs, Diet, & Depression
- Drugs: Personal or friends use of tobacco, alcohol, illicit drugs, anabolic steroids; family substance use and attitudes; driving while intoxicated or with someone who was intoxicated; If personal use, administer CAGE questionnaire. Any affirmative answer on CAGE indicates high risk for alcoholism or dependence and requires further assessment.
- Diet: Body image, dieting, exercise, try to control weight
- Depression/Suicide: Feeling sad or down, crying, “bored”, sleeping trouble, hurting yourself or others.
- Safety & Sexuality
- Sexuality: Dating? Who? Sexual relationships? How old was partner, how many? What does “safe sex” mean to you?
- Safety: Seriously injured? How? Seatbelt use? Safety equipment use. Violence at home, school. Physical or sexual abuse
Adolescent Psychosocial History
- Without parent present
- Tobacco, ETOH, Drugs, Sexual Activity, Depression, Suicide, Abuse
Perform age and sex specific physical exams on teens
- Remember adolescents may be shy and modest. Address this concern directly.
- Useful to comment that exam is normal (Example: “Your heart sounds fine.”)
- Remember their developmental (cognitive) stage
- Height, weight, BMI with percentiles, BP
- Dentition and gums
- Skin: acne, scars, piercings, tattoos
- Spine: scoliosis
- Breasts: Tanner stage, gynecomastia
- External genitalia: Tanner stage, lesions if sexually active
- Testicular exam in boys with education on TSE.
- Pelvic Exam Necessary if: History of sexual intercourse, Abnormal vaginal discharge, Menstrual irregularities, Suspicion of anatomic abnormalities, Pelvic Pain, Patient requests
- Pap Smear: Age 21
- Pelvic with STD testing if sexually active.
Tanner Stages: Sexual Maturation Rating (SMR)
- SMR1 (Tanner 1): prepubescent
- Girls: pubic hair sparse, fine, nonpigmented, downy/breast buds begin; mean age 11.2 (9-13.4)
- Boys: Enlargement of scrotum and testes; skin of scrotum reddens and changes in texture; little or no enlargement of penis; mean age 11.4 yr (9.5–13.8 yr)
- Girls: hair becomes pigmented and curly, increases in amount/breast and areola grow and become elevated; mean 12.2yr (10-14.3)
- Boys: Enlargement of penis, first mainly in length; further growth of testes and scrotum; mean age 12.9 yr (10.8–14.9 yr)
- Girls: hair adult in texture but limited/areola and papilla (nipple) form separate mound; mean 13.1 (10.8-15.4 yr)
- Boys: Increased size of penis with growth in breadth and development of glans; further enlargement of testes and scrotum and increased darkening of scrotal skin; mean age 13.77 yr (11.7–15.8 yr)
- Girls: adult maturity/adult breast (areola assumes same contour as breast); mean 15.3 (11.9-18.8 yr)
- Boys: Genitalia adult in size and shape; mean age 14.9 yr (13–17.3 yr)
- Menarche: onset of menses (10-16) avg age around 12, about 2-2.5 years after development of breast buds, usually in late stage 3-maybe in stage 5, growth spurt happens before.
- Will usually see pubic hair before axillary hair (girls 1 year, boys 2 years)
- “a psychophysiologic process in which unpleasant feelings, especially anxiety, depression and guilt are communicated through a physical symptom.”
- Most common somatoform disorder during adolescence. Can also certainly occur in adulthood.
- Psychophysiologic symptom results when anxiety activates the autonomic nervous system
- Tachycardia, hyperventilation vasoconstriction
- Anxiety is dissipated by the somatic symptom
Conversion Reaction Diagnosis
- Nervous, GI, Cardiovascular Symptoms
- Usually occur in times of stress
- ?hypochondriasis or malingering
Conversion Reaction Treatment
- emphasis that both physical and emotional causes of the symptom need to be considered.
- Psychological referral.
- In the Primary care setting – frequent regularly scheduled follow-up appointments can be helpful
Symptoms of clinical depression
- loss of interest
- sleep disturbances
- decreased energy
- feelings of worthlessness
- difficulty concentrating
- Clinical findings of serious depression may be similar to that in adults.
- Thorough medical exam with labs.
- 3rd leading cause of death ages 13-19
- Survey of high school students: 20% 9-12th graders seriously considered suicide in preceding 12 months. 3% HS attempted in preceding 12 months
- Teen Suicide: Firearms- 67% of suicide deaths in both males and females. Attempt rate 3 x higher in females than in males. Gender ratio for completed suicides is about 5:1 (males: females)
- Conceptualized as the adolescent’s ultimate yet inadequate coping behavior
- May represent an attempt to escape pain or to obtain relief; may be attempt to influence others
- Risk Factors: Prior suicide attempts. Mental and substance abuse disorders. Fam Hx of suicide and/or mental health d/o. Stressful life event or loss. Broken family or family discord. Prior abuse. Physical illness. Gay or bisexual adolescents. Poor school performance. Recent behavioral changes (anger, rejection). Presence of firearms in the house.
- Prodromal Signs: sadness, hopelessness, emptiness, lack of energy, insomnia, eating problems, loss of interest in social life and school, boredom, loneliness, irritability, truancy, substance abuse, change in social behavior, Accident proneness, giving away prized possessions, “My family would be better off without me.”
- Recommendations for PCP: Know risk factors and be a resource. Routinely ask questions about depression and suicide (directly, is there a plan?). Ask about firearm availability. Recognize the medical and psychiatric needs and collaborate with others. Know resources in community and refer
- Predictors of ethanol/drug use: Male, Young age at first use, Peer use
- Protective factors: Supportive adults, Strong commitment to school, Cohesive family, Good self-esteem
Anorexia Nervosa: Clinical Manifestations
- Family characteristics (generally white, middle to upper class)
- School behavior: excellent students and overachievers
- Withdraw from peer contacts
- Lack of concern over increasingly emaciated appearance
- Food as battleground
- Anorexia nervosa is the third most common chronic illness among teenage girls in the US.
- Females outnumber males 8:1
- Incidence difficult to ascertain-thought to be 1-2% of teen
Anorexia Nervosa Presenting Symptoms
- weight loss
- early satiety
- easy bruising
- postural dizziness/fainting
- hair loss
- yellow skin/dry skin
- blue hands and feet
- preoccupation with food
- abdominal bloating, discomfort, pain
- cold intolerance
- fatigue, muscle weakness and cramps
- frequent fractures
Anorexia Nervosa Presenting Physical Signs
- Decreased weight (<85% of expected)
- Decreased temperature
- bradycardia (no increase with exercise)
- Edema (dependent)
- Dry skin with hyperkeratotic areas
- Cold extremities
- Nail changes (pitting and ridging)
- Increased lanugo hair
- Scalp hair loss
- Systolic murmur
- Short stature
Anorexia Nervosa Complications
- Endocrine or metabolic
- Sudden death
- Binge eating followed by compensatory behavior such as self-induced vomiting, laxative abuse, excessive exercise, enemas, or prolonged fasting
- Normal -overweight, usually
- Usually aware that the eating pattern is abnormal
- Feel out of control while eating
Bulimia Nervosa Diagnostic Criteria (DSM-IV)
- recurrent binge eating
- recurrent compensatory behavior to prevent weight gain
- Occur (on average), at least twice a week for 3 months
- self-evaluation influenced by body shape and weight
- disturbance does not occur exclusively during episodes of anorexia nervosa
Bulimia Nervosa Signs and Symptoms
- swelling of hands and feet
- weakness and fatigue
- abdominal fullness/pain
- irregular menses
- muscle cramps
- chest pain and heartburn
- easy bruising
- bloody diarrhea (laxative abuse)
- skin changes
- enlargement of the salivary glands
- dental enamel erosion
Binge Eating Disorder (BED)
- Describes individuals who binge eat but do not use compensatory mechanisms to lose weight
- Intense guilt following binge episode
- Leads to weight problems and obesity
- Increased incidence of depression and substance abuse
- Change in coursework
- Rapid changes in body and mind
- Must have cognitive capacity, study habits, motivation, concentration, interest, emotional focus and support
- Broad differential…
- limited intellectual abilities
- learning disabilities
- visual/hearing problems
- chronic disease
- lack of motivation
- drug and alcohol
- Hepatitis B series
- Tdap at age 11-12, then Td every 10 yrs
- MMR (if didn’t get second dose)**
- Varicella** 2 doses 4 weeks apart if ≥ 1. 2nd dose if received first as infant and no evidence of immunity
- Meningococcal (MCV4) Menactra
- Human Papillomavirus Vaccine** (3 vaccine series-time, 2 and 6 months)
- ** Requires negative pregnancy test to give
- Influenza: Annually for adolescents with diabetes, asthma, any immunocompromising disease state
- BMI for age
- Overweight 85-95th percentile
- Obese 95th percentile and above
- Males, uncircumcised: 1 - 2%;
- Males, circumcised: 0.2 - 0.4%
- Females: 0.1 - 0.4%
- M:F ratio in neonates is 2.8:1 to 5.4:1
UTI 1 month - 2 years
- prevalence is 0.5 - 3%
- M:F ratio ages 2 months to 6 months is 1:1.5
- M:F ratio by 2 years of age is 1:10
UTI 2 years - 18 years
- prevalence is 0.1% to
- 0.5% in boys, 1% to 5% in girls
prevalence is 1% to 3% in women
- Approximately 8% of girls and 2% of boys have a UTI by 11 years of age.
- The lifetime incidence of UTI in females is about 30% compared to only 1% in males.
- Approximately 75% of infants younger than 3 months of age with bacteriuria are male compared with only 10% between 3 and 8 months of age.
- After 12 months of age, UTI in healthy children usually is seen in girls.
UTI Risk Factors
- A short urethra predisposes girls to UTI.
- Uncircumcised male infants are at 5- to 12-fold increased risk for UTI compared with circumcised male infants.
- Obstruction to urine flow and urinary stasis is the major risk factor and may result from anatomic abnormalities, nephrolithiasis, renal tumor, indwelling urinary catheter, ureteropelvic junction obstruction, megaureter, extrinsic compression, and pregnancy.
- Vesicoureteral reflux, whether primary (70% of cases) or secondary to urinary tract obstruction, predisposes to chronic infection and renal scarring.
- Scarring also may develop in the absence of reflux.
UTI’s in Children: Gram Negative
- Escherichia coli: Most common organism; > 85% of first-time UTI’s
- Klebsiella species: Second most common; seen more in young infants
- Proteus species: May be more common in males
- Enterobacter species: < 2% of UTI’s
- Pseudomonas: < 2% of UTI’s
UTI’s in Children: Gram Positive
- Enterococci species: Uncommon > 30 days of age
- Coagulase negative Staphylococcus: Uncommon in childhood
- Staphylococcus aureus: Uncommon > 30 days of age
- Group B Streptococcus: Uncommon in childhood
Pathogenesis of UTI
- Urinary tract infections (UTIs) include cystitis (infection localized to the bladder), pyelonephritis (infection of the renal parenchyma, calyces, and renal pelvis), and renal abscess, which may be intrarenal or perinephric.
- The urinary tract and urine are normally sterile.
- Escherichia coli, ascending from bowel flora, accounts for 90% of first infections and 75% of recurrent infections.
- Over 90% of nephritogenic E. coli possess P fimbriae that binds to uroepithelial cells and P blood group antigens, which are glycolipids containing the disaccharide α-D-galactopyranosyl-(1,4)-β-D-galactopyranose (Gal-Gal).
- Individuals with high-level expression of P1 blood group antigen are predisposed to pyelonephritis and bacteremia, as well as recurrent UTIs.
- Other bacteria commonly causing infection include Klebsiella, Proteus, Enterococcus, and Pseudomonas.
- Staphylococcus saprophyticus is associated with UTI in some children and in sexually active adolescent girls.
- S. saprophyticus, Chlamydia trachomatis, and E. coli are the chief causes of the acute urethral syndrome, or postcoital urethritis, which typically occurs 12 to 72 hours after sexual intercourse.
UTIs by Anatomical Sites
- Cystitis (lower tract)
- Pyelonephritis (upper tract)
- Asymptomatic bacteruria
UTI: Upper Tract vs Lower Tract
- Clinical Dx: difficult to differentiate, many sx are nonspecific in kids
- History – how to differentiate
- Fever: upper tract in adults, nonspecific in peds
- Flank pain vs. suprapubic pain: nonspecific in peds
- “Sick” – nausea; vomiting; decreased energy, appetite
- Costovertebral angle tenderness
- “Toxic” – how ill does the patient appear?
UTI Lab Tests
- Urine culture
- Standard definition is ≥ 100,000 cfu/ml for a clean catch urine
- 10,000 cfu/ml for a catheterized specimen
- Any growth for a suprapubic aspiration
- Blood tests
- Complete blood count with differential
- Blood chemistries
- Blood culture
- Acute phase reactants (C reactive protein)
- Radiologic studies
Management of Recurrent UTI’s
- The relapse rate of UTI is approximately 25% to 40% .
- Most relapses occur within 2 to 3 weeks of treatment.
- Follow-up urine cultures should be obtained 1 to 2 weeks after completing therapy to document sterility of the urine.
- Prophylactic antibiotics should be administered until the VCUG has been completed and the presence of reflux is known.
- TMP-SMZ (2 mg/kg TMP, 10 mg/kg SMZ) and nitrofurantoin (1 to 2 mg/kg) given once daily at bedtime are recommended as prophylactic agents, which, in contrast to amoxicillin and cephalosporins, are associated with low rates of developing antibiotic resistance.
- Clinical follow-up for at least 2 to 3 years is prudent, with repeat urine culture as indicated.
- Some experts recommend that follow-up urine cultures after recurrent cystitis or pyelonephritis are obtained monthly for 3 months, at 3-month intervals for 6 months, then yearly for 2 to 3 years.
- Grade 1 to 3 reflux resolves at a rate of about 13% per year for the first 5 years, then at a rate of 3.5% per year.
- Grade 4 to 5 reflux resolves at a rate of about 5% per year.
- Bilateral reflux resolves more slowly than unilateral reflux.
Classic symptoms of UTI: often not present in peds
- Suprapubic pain
- Possibly hematuria
Classic symptoms of UTI – Newborns
- Failure to thrive
Classic symptoms of UTI – Infants and Preschool
- Failure to thrive
- Abdominal/flank pain
- New onset incontinence
Classic symptoms of UTI – School age
- Abdominal/flank pain
- New onset incontinence
- The symptoms and signs of UTI vary markedly with age.
- Few have high positive predictive values in neonates, with failure to thrive, feeding problems, and fever the most consistent symptoms.
- Direct hyperbilirubinemia may develop secondary to gram-negative endotoxin.
- Infants 1 month to 2 years old may present with feeding problems, failure to thrive, diarrhea, vomiting, or unexplained fever.
- The symptoms may masquerade as gastrointestinal illness with colic, irritability, and screaming periods.
- At 2 years of age, children begin to show the classic signs of UTI such as urgency, dysuria, frequency, and abdominal or back pain.
- The presence of UTI should be suspected in all infants and young children with unexplained fever and in patients of all ages with fever and congenital anomalies of the urinary tract.
UA: Clean catch
- Procedure for cleaning perineum
- Collect mid-stream urine
- Evaluate in timely manner
- Difficult in infants
- Procedure for cleaning perineum
- Performed as a sterile procedure
- Risks: Urethral trauma, Microscopic hematuria, 2% chance of introducing bacteria
UA: Suprapubic tap
- Performed as a sterile procedure
- Can be done with ultrasound guidance
- Risks: Microscopic hematuria, Major complications rare
- Gross Appearance: color, turbidity, odor
- Leukocyte esterase: Sensitivity 84%, Specificity 78%
- Nitrite: Sensitivity 50%, Specificity 98%
- Specific gravity
- Cells: RBC, WBC, epithelial
- White Cell Casts: may be diagnostic
- Red Cell Casts: glomerulonephritis
- Bacteria: Be careful over interpretation
- Yeast; parasites (pinworms)
Diagnosis of Cystitis
History, physical exam, and urinalysis usually adequate to make the diagnosis in young women
Initial Management of UTI In Children
- Before selecting antibiotics, need to identify likely organism(s)
- Many options – depends on sensitivities and level of resistance in your community
- Cephalosporins (cephalexin, cefixime)
- Amoxicillin (?with clavulanate). Concerns for resistance
- 7 – 10 days of therapy
- Parenteral antibiotics frequently needed
- 48 – 72 hours before symptoms abate
- 10 – 14 days of therapy
- Primary prevention is achieved by promoting good perineal hygiene and managing underlying risk factors for UTI, such as chronic constipation, encopresis, and daytime and nighttime urinary incontinence.
- Secondary prevention of UTI with antibiotic prophylaxis given once daily is directed toward preventing recurrent infections, although the impact of secondary prophylaxis to prevent renal scarring is unknown.
- Acidification of the urine with cranberry juice is not recommended as the sole means of preventing UTI in children at high risk.
Follow-up of UTI in Children
- Want to know why the infection occurred
- Radiologic evaluation
- Renal Ultrasound: Looks at anatomy
- VCUG: Looks for vesicoureteral reflux
Classification of UTI by Symptoms
Classification of UTI by Recurrences
- Sporadic: ≤ 1 UTI/6 mos and ≤ 2 UTIs/year
- Recurrent: ≥ 2 UTIs/6 mos or ≥ 3 UTIs /year, due to Relapse or Reinfection
UTIs and Reflux
- Think of siblings: 30% familial incidence
- Management: Antibiotic prophylaxis, Surgery (Reimplantation, Endoscopic placement of bulking agent)
1999 AAP UTI Recommendations
- Ages 2 months to 2 years, don’t have expected clinical response within 2 days: Ultrasound promptly. VCUG or radionuclide cystogram (RNC) strongly encouraged at earliest convenient time.
- Ages 2 months to 2 years with expected clinical response: Ultrasound should be performed at earliest convenient time. VCUG or RNC strongly encouraged
- Relationship between weight and height that is associated with body fat and health risk
- weight in kg/height in meters²
Adult BMI absolutes
- Below 18.5, < 5th %ile, Underweight
- 18.5 – 24.9, 5-85th %ile, Healthy weight
- 25-29.9, 85-95th%ile, Overweight
- 30 and above, > 95th %ile, Obese
- > 99th %ile, Severely Obese
BMI and Pediatrics
- ~4% of children aged 5 to 17 in US are above 99th percentile
- While absolute BMI defines body weight in adults, percentiles specific for age and gender define body weight for children
- Calculate an absolute BMI, then plot that number on current CDC growth charts.
Endocrine Disease Cause of Obesity
- Cushing syndrome (excess cortisol)
- Growth hormone deficiency
- Acquired hypothalamic lesions (eg, infection, vascular malformation, neoplasm, trauma)
- **most children with these problems have short stature and/or hypogonadism
- Single Gene Defects
- Single-gene defects (Prader-Wili, Bardet-Biedl, Cohen syndromes) account for <3% of causes of obesity.
- In addition to being overweight, children with genetic syndromes typically have dysmorphic features, short stature, and/or developmental delay.
- Prader-Willi: Early onset obesity, hyperphagia, dev. Delay and behavioral outburst. Characterized by excessive food-seeking behavior
- Bardet-Biedl Syndrome: an autosomal recessive genetic disorder characterized by obesity, retinal degeneration, extra digits on the hands and feet, and intellectual impairment
- Cohen Syndrome: a rare genetic disorder characterized by typical facial features including a smaller than average head, characteristic "wave-shaped" eyes and a short upper lip which reveals the central teeth (incisors).
Heritability of Obesity
- It can be concluded that… “genetics loads the gun, the environment pulls the trigger.”
- Genetic factors play a permissive role and interact with environmental factors to produce obesity
- If 1 parent obese, 40% chance obesity. If both parents obese, 80% chance obesity
- If one parent is obese, the odds ratio for the child to be obese in adulthood is 3, but this increases to 10 if both parents are obese
Medical Risks Associated With Obesity
- Psychosocial: Peer discrimination, teasing, reduced college acceptance, isolation, reduced job promotion, anxiety, depression
- Growth: Advance bone age, increased height, early menarche
- CNS: Pseudotumor cerebri
- Respiratory: Sleep apnea, pickwickian syndrome
- Cardiovascular: Hypertension, cardiac hypertrophy, ischemic heart disease, sudden death
- Orthopedic: SCFE, Blount disease (visible bowing of lower extremities, generally occurs after 8 years of age)
- Metabolic: Insulin resistance, T2DM, hypertriglyceridemia, hypercholesterolemia, gout, hepatic steatosis, polycystic ovary disease, cholelithiasis, fatty liver disease
- Comorbidities: Hypertension, Diabetes, Dyslipidemia, Sleep apnea, Anxiety/depression, Fatty Liver Disease, PCOS
- Obese children are almost six times more likely than children with healthy weights to have an impaired quality of life--equal to that of children undergoing treatment for cancer.
- Four of the 10 leading causes of death in the U.S. are related to obesity: CHD, T2DM, stroke, several forms of cancer
Behavioral risk screening – using the ‘5321-almost none’ model
- Current eating habits
- Physical activity
- Sedentary Behaviors
Medical Risk Screening for Obesity
- BMI: Screen BMI annually for children 2-19y. Use recumbent length-weight for children ≤ 2y
- Inheritable risks (parental obesity and family medical history): T2DM, cardiovascular disease, Ethnicity
- T2DM: Obese children with first or second-degree FH of T2D had increased rates of insulin resistance, metabolic syndrome, and diabetes.
- Cardiovascular disease: FH of HTN ass’d with higher BMI and HTN in child. 49% of children with primary HTN have parents with HTN, compared with 24% of children with secondary HTN.
- Ethnicity: T2DM higher prevalence in children of non-European origin (Hispanic, black, North American and Pima Indians)
Screening for co-morbidities of Obesity
- Sleep Problems: OSA, obesity hypoventilation syndrome. Both can cause right ventricular hypertrophy hypertension, headaches, poor attention, poor academic performance, and nocturnal enuresis
- Obstructive Sleep Apnea: one of the most serious co-morbidities and may be >50% among adolescents with severe obesity.
- Obesity hypoventilation syndrome: weight of fat on chest and abdomen impairs ventilation.
- Sleep Review of systems: loud snoring, restless sleep, daytime somnolence.
- Respiratory Problems: Increase incidence of Asthma among obese children.
- Respiratory Review of systems: shortness of breath, cough, or wheeze with exertion. (don’t assume poor physical conditioning)
- GI Problems: Nonalcoholic fatty liver disease (NAFLD/NASH) increased incidence with obesity, Gallstones, GERD, Constipation, all exacerbated by obesity
- Endocrine problems: Type 2 Diabetes mellitus, Insulin resistance (Acanthosis nigricans), Polycystic Ovary Syndrome (Obesity, Irregular menstrual periods (oligomenorrhea), Increased body hair (hirsutism), infertility), Irregular menses, Advanced puberty (premature thelarche, advanced bone age)
- Nervous System Problems: Pseudotumor cerebri extremely rare, but obesity is a risk factor. If untreated, can lead to vision loss.
- CNS Review of systems: severe HA with photophobia
- Cardiovascular Problems: Elevated Blood Pressure (13% of obese children have elevated systolic blood pressure; 9% with elevated diastolic BP), Lipid level abnormalities (Because of high prevalence, fasting lipid profile on all whose BMI > 85%)
- Orthopedic Problems: Blount disease (tibia vara) (visible bowing of lower extremities, generally occurs after 8 years of age.), Slipped capital femoral epiphysis ( more common in obese, as additional shear forces around the proximal growth plate in the hip at risk. Occurs between 9 – 16 years of age. c/o hip or knee pain, and pain with walking. treated surgically with internal fixation)
- Mental Health Problems: Anxiety and depression higher in obese children. Obese children shown to have lower self-reported quality of life than children with cancer
- Screening tools available: Child Behavior Checklist, Mood and Feeling Questionnaire, Pediatric Symptom Checklist
- Screening Laboratories: Liver function (AST/ALT), Lipid profile, Glucose, Hgb a1c, Insulin, TSH, Microalb/creat ratio – urine, 25 OH vitamin D
Staged Approach to Weight Management in Children and Adolescents
- Stage 1 (prevention plus): risk assessment, 5-3-2-1-0, PCP office, every 3-6mo
- Stage 2 (structured weight mgt): add structured meal planning, PCP and Dietician or trained provider, monthly
- Stage 3 (comprehensive multidisciplinary): add formal monitoring and behavioral treatment and family involvement, multipractice group, weekly for 8-12wks and monthly followup
- Stage 4 (tertiary care): add pharmacotherapy and/or bariatric surgery, established protocols and access to subspecialty care
Orlistat (alli, Xenical)
- Causes fat malabsorption through inhibition of enteric lipase.
- 12 years or older
- Side effects: abdominal pain/discomfort (26%), flatus with discharge (24%), oily spotting (27%), fecal urgency (22%), fatty/oily stool (20%), oily evacuation (12%), defecation increased (11%)
- Effects are modest
- Not covered on any insurance plans and Not cheap
- Orlistat $250/month
Weight control surgery
Growing evidence that this may be viable alternative for mature, severely obese adolescents.
- Universal screening, starting at birth
- Use visuals – show BMI chart starting at age 2.
- Use words “healthy weight for height and age”
- If BMI too high (ie, he weighs more than he should given his height and age) SHOW family/pt and ask if this concerns them
- If yes, see how they’d like to proceed.
- If no, see if they’d like some information on why you are concerned.
Target specific eating and activity behaviors (5-3-2-1-almost none)
- 5 fresh fruits/veggies a day
- 3 structured family meals
- No skipping meals
- Fast food once a week at the most
- Family should eat together at a table
- TV off
- 2 hours or less of screen time
- 1 hour of physical activity a day
- “Almost none” sugar-sweetened beverages
Use of patient-centered communication
- Motivational Interviewing
- Core principle: human behavior change results from motivation, not information.
- Takes into account patients’ readiness to change
- Uses nonjudgmental questions and reflective listening
- Allows clinicians to evoke motivation, rather than try to impose it.
- Allows clinicians to help patients formulate a plan consistent with their own values and goals.
Pediatrics: Infectious Diseases
- Range from benign to serious
- Younger the child, more worrisome for life-threatening infections
- Many accompanied by fever and/or other symptoms; e. g. rash, lymphadenopathy
- know/appreciate symptom complexes
- not all fever is infection
- not all rashes have infectious etiology
- knowledge of childhood exanthems helpful
- Viruses cause most pediatric infections.
- Viral infection may predispose to bacterial disease; AOM and pneumonia
- Clues to bacterial etiology: increased WBC especially with left shift (children naturally have high WBC, 15k is high in adults but within normal range in kids), increased acute phase reactants (ESR, CRP).
Measles (Rubeola) aka First Disease
- Single-stranded RNA paramyxovirus
- The characteristic histologic finding is the presence of large, multinucleated giant cells (Warthin-Finkeldey cells) and syncytium formation in respiratory epithelia and reticuloendothelial cells
- Virus is present in respiratory secretions, blood, and urine
- Transmitted by large droplets from the upper respiratory tract and requires close contact
- Infected persons are contagious from 1 to 2 days before symptoms (about 5 days before onset of rash) to 4 days after the appearance of the rash
- Clinical Manifestations: Infection Is Divided Into Four Phases:
- Incubation: 8 to 12 days from exposure to the onset of symptoms and 14 days from exposure to the onset of rash
- Prodromal (catarrhal): manifestations of the 3-day prodromal period are cough, coryza, conjunctivitis, and the pathognomonic Koplik spots (gray-white, sand grain-sized dots on the buccal mucosa opposite the lower molars)
- Exanthematous (rash): classic symptoms of cough, coryza, and conjunctivitis. Accompanied by high fever (104°F to 105°F). The macular rash begins on the head (often above the hairline) and spreads over most of the body in 24 hours in a descending confluent fashion. Cervical lymphadenitis, splenomegaly, and mesenteric lymphadenopathy with abdominal pain may be noted
- Diagnosis: Diagnosis is clinical. The constellation of fever, rash, cough, and conjunctivitis is diagnostic for measles. Koplik spots are pathognomonic
- Treatment: no specific therapy for measles. Supportive care includes maintaining adequate hydration and antipyretics
- Complications: otitis media, giant cell pneumonia, activation of latent TB, myocarditis, encephalitis
- Prevention: Live measles vaccine prevents infection and is recommended as MMR for children at age 12 to 15 months and a second dose at 4 to 6 years
Rubella (German Measles) aka Third Disease
- Single-stranded, positive-sense RNA virus with a glycolipid envelope, which is a member of the togavirus family
- Invades the respiratory epithelium and disseminates via a primary viremia
- Incubation period for postnatal rubella is 14 to 21 days
- Characteristic signs of rubella are retroauricular, posterior cervical, and posterior occipital lymphadenopathy accompanied by an erythematous, maculopapular, discrete rash
- Rash begins on the face and spreads to the body and lasts for 3 days
- Less extensive rash than measles
- Forchheimer spots: (rose-colored spots on the soft palate) develops in 20% of patients
- Other manifestations of rubella include mild pharyngitis, conjunctivitis, anorexia, headache, malaise, and low-grade fever
- Treatment: no specific therapy for rubella. Supportive care includes maintaining adequate hydration and antipyretics
- Complications: congenital rubella syndrome if infection occurs during pregnancy. Can result in IUGR, cataracts, deafness and PDA
- Prevention: Live rubella vaccine prevents infection and is recommended as MMR for children at age 12 to 15 months and a second dose at 4 to 6 years
Roseola Infantum (Exanthem Subitum) aka Sixth Disease
- Human herpesvirus (HHV) type 6 (HHV-6) and in 10% to 30% of cases by HHV-7
- Development of lifelong latent infection and intermittent shedding of virus
- Characterized by high fever (often ≥104°F) with an abrupt onset and lasting 3 to 5 days with a maculopapular, rose-colored rash
- The rash usually lasts 1 to 3 days
- Upper respiratory symptoms, nasal congestion, erythematous tympanic membranes, and cough may occur
- Most children with roseola are irritable and appear toxic
- Treatment: no specific therapy for roseola. Supportive care includes maintaining adequate hydration and antipyretics
Erythema Infectiosum (Fifth Disease)
- Human parvovirus B19
- Incubation period is typically 4 to 14 days
- Mild, nonspecific illness characterized by fever, malaise, myalgias, and headache
- The rash appears in three stages
- The initial stage typically is apparent by erythematous cheeks, appearing as a "slapped cheek" rash
- symmetric, maculopapular, truncal rash appears 1 to 4 days later
- later, central clearing takes place, giving a distinctive lacy, reticulated rash that lasts 2 to 40 days
- Treatment: no specific therapy. Supportive care includes maintaining adequate hydration and antipyretics
- Varicella-zoster virus (VZV)
- Chickenpox (varicella) is the manifestation of primary infection
- Zoster (shingles) is the manifestation of reactivated latent infection of endogenous VZV
- Incubation period of varicella is generally 10 to 20 days
- Prodromal symptoms of fever, malaise, and anorexia may precede the rash by 1 day.
- Characteristic rash appears initially as small red papules that rapidly progress to non umbilicated, oval, "teardrop" vesicles on an erythematous base
- Rash Starts on trunk, then face, head, extremities less so
- Lesions appear in crops over 3-4 days, appear in various stages
- Pruritus is universal and marked
- Crust in 3-5 days
- Contagious for 1 week
- Treatment: Symptomatic therapy of varicella includes nonaspirin antipyretics, cool baths, and careful hygiene
- Prevention: Children with chickenpox should not return to school until all vesicles have crusted. Live attenuated varicella vaccine is recommended – 2 dose series
- Rubeola (first disease)
- Cough, coryza, conjunctivitis
- Koplik’s spots: oral lesions (enanthem) appear before the rash
- Maculopapular rash in hairline & spreads down to confluent
- SSPE: rare fatal encephalitis years after initial infection
- Self limiting 7-10 days
- Rx: symptomatic
- Second disease
- Strawberry tongue
- Group A streptococci
- Sandpaper rash worse in groin, axillae
- Erythrogenic exotoxin
- Rx: Pen VK
German Measles (rubella)
- 3 day measles
- Third disease
- Postauricular & occipital adenopathy
- Maculopapular rash on face then spreads
- Resolves in 3 days
- Congenital rubella syndrome
- Dx: clinical, paired sera
- Complication: arthralgias
- Rx: symptomatic
- Fifth disease
- Human parvovirus B19
- Mild flu-like illness
- Rash at 10-17 days
- Not contagious with rash
- Slapped cheeks: first rash
- Reappears for 2-4 wks
- Lacy arms & legs: second rash
- Arthralgias in older patients.
- 6% fetal death, 1st trimester
- Sixth Disease
- Exanthem subitum
- HHV6, HHV7
- 6mo – 3 y/o
- High fever / ?seizures
- Abrupt fever to 104°F
- Fever lasts 3-7days
- Defervescence precedes rash
Papular purpuric glove and sock syndrome
- Also associated with parvovirus B-19
- other viruses implicated
- Affects older adolescents/young adults
- Lymphadenopathy, fever and arthralgias in addition to rash
- Self-limiting over 1-2 weeks
- Incubation: 10-20 days
- Starts on trunk, then face, head, extremities less so mucous membranes
- Lesions appear in crops over 3-4 days; up to 500
- Intensely pruritic
- Crust in 3-5 days
- Contagious for 1 week
- Complications: pneumonia, encephalitis; can be fatal
- Rx: symptomatic, no ASA
- Consider acyclovir in teens
- Prodrome: pain, tingling, dermatome distribution
- Varicella dormant in nerve roots
- May give varicella to non-immune
- Rx: Symptomatic; pain meds in older, acyclovir in compromised children
Hand-Foot-Mouth Disease (HFMD)
- Coxsackie A-16
- Highly contagious
- Vesicles on tongue, oral mucosa, hands & feet
- May also have generalized scarletiniform rash
- Low grade fever, anorexia
- Complications: myocarditis, substernal chest pain, dyspnea
- Rx: Symptomatic
- aka papular acrodermatitis of childhood
- Mostly attributed to EBV (HHV4); other viruses implicated including hepatitis B
- ? sequlae to vaccination with live vaccines
- Mean age: 2 years; 6-14 month olds most likely to be affected
- Rash: symmetric red-purpuric papules and papulovesicles on face, buttocks, extremities
- Lymphadenopathy, low grade fever
- Self limiting in 3-4 weeks
Viral Gastroenteritis in Pediatric Patients
- Viral gastroenteritis is very common in children
- Most common etiologies: rotavirus, caliciviruses (includes noroviruses), astroviruses, adenoviruses
- Bacterial gastroenteritis: nontyphoidal Salmonella, Shigella, Campylobacter, E. coli (EPEC, 0157-H7)
Giardia lamblia: “Beaver Fever”
- Transmission: person to person (cyst ingestion), contaminated food/water
- May resolve spontaneously without treatment
- Dx: Giardia antigen, stool O&P
- Rx: tinidazole 2gm po x 1 dose; nitazoxanide 500mg bid x 3 days/ metronidazole 250mg tid x 5 days (↑’ed GI side effects)
- Prevention: Boil, filter, iodinate drinking water. Don’t trust any open source
- Pearl: can cause vulvovaginitis in prepubescent girls
Viral Gastroenteritis Comparison
- Rotavirus: < 5yo
- Noroviruses: all ages
- Astroviruses: < 2yo
- Adenoviruses: < 2yo
- Rotavirus: person to person, fomites
- Noroviruses: person to person, food/water, fomites
- Astroviruses: person to person
- Adenoviruses: person to person
- Rotavirus: explosive, watery, 5-10/day diarrhea
- Noroviruses: watery diarrhea
- Astroviruses: watery diarrhea
- Adenoviruses: watery diarrhea
- Rotavirus: 80-90% vomiting
- Noroviruses: > 50% vomiting, may be dominant feature
- Astroviruses: < 50% vomiting
- Adenoviruses: < 50% vomiting
- Rotavirus: frequent fever
- Noroviruses: mild fever, less common
- Astroviruses: mild fever, less common
- Adenoviruses: mild fever, less common
- Rotavirus: 2-8 days duration
- Noroviruses: 1-5 days
- Astroviruses: 1-5 days
- Adenoviruses: 3-10 days
- Rotavirus: Dx by stool EIA
- Noroviruses: Dx by RT-PCR
- Astroviruses: Clinical diagnosis
- Adenoviruses: Dx by stool EIA
Treatment of Bacterial Gastroenteritis and Giardiasis in Pediatric Patients
- Most cases, viral and bacterial, are self-limiting
- supportive; correcting dehydration and maintaining hydration in setting of ongoing losses
- antibiotic therapy is recommended for Shigella infections and E. coli EPEC infections in children < 3 months of age.
- antibiotic therapy is not indicated for Salmonella or E. coli 0157:H7
- children with Campylobacter infection usually recover without treatment but antibiotics hasten recovery and reduce length of carrier status
Common Cutaneous Infections in Pediatric Patients
- Perianal dermatitis
- Tinea capitis
- Molluscum contagiosum
- Common warts
- Cutaneous candidiasis
- Caused by GAS.
- Symptoms include pruritus, painful defecation and blood-streaked stools.
- Treat with pen VK (20-50mg/kg/day in divided doses).
- Most cases occur in children of color.
- “Black dot” hair loss; scalp erythema and scaling
- Classic = Group A Streptococcus
- Bullous = Staph. aureus (rare)
- Scabbing eruption
- Ecthyma: Impetigo that extends into the dermis
- Predisposing factors: trauma, underlying dermatoses, poor hygiene, previous Abx tx, warm temperatures and high humidity
- Non-bullous: small pustules or vesicles that erode and crust “honey crust”, surrounding skin is usually inflamed
- Bullous: vesicles or bullae containing clear or turbid fluid, surrounding skin can be normal
- Tx: topical cream or ointment, Bactriban/Mupirocen; or systemic, cephalosporins or dicloxacillin
- Pearly dome shaped papules with central umbilication.
- esions are self-limiting
- Cause: poxvirus
- Flesh-colored, dome shaped lesion with umbilicated central core
- Spread by direct contact, disseminated by auto-inoculation
- May spontaneously resolve, cryotherapy
- Hyperplasia of epidermal cells.
- Self-limiting; can be treated with cryotherapy
- Diaper dermatitis
- Beefy red diaper area,
- Well demarcated
- Satellite lesions
- Rx: topical nystatin, Diflucan (fluconazole) po for 2 weeks
- Keep area clean, dry & open to air
- Usually viral or bacterial in etiology; rarely fungi
- Viral etiologies: mostly enteroviruses: Coxsackie and enteroviruses. Mumps virus is uncommon cause.
- Bacterial etiologies are age dependent
- Children < 1 year of age most at-risk
- Other risks: SCD, asplenia, crowding
- Clinical manifestations: often preceding URI-type symptoms, fever, irritability, lethargy, vomiting, signs of meningeal irritation (in children > 1 year of age)
- Newborn: most commonly Group B strep, E coli, Klebsiella, Enterobacter, L monocytogenes; less commonly S aureus, E faecalis, P aeruginosa, Salmonella, Coagulase neg staphylococci
- >1 mo: most commonly S pneumoniae, N meningitidis; Less commonlhy GAS, gram neg bacilli, L monocytogenes
- Diagnosis: CSF examination (cell count with differential, protein, glucose, Gram stain and culture), blood cultures
- newborns: AMP + cefotaxime OR AMP + gentamicin (AMP for Listeria)
- > 1 month: cefotaxime OR ceftriaxone + vancomycin +dexamethasone
- Sarcoptes scabiei
- Fingers, wrists, toes, axillae
- Itching, scabs, burrows
- Infants get nodular eruption, including head
- Itch may persist
- Rx: Elimite (5% permethrin), Kwell (lindane)
- Rx: Removal of nits not necessary. Retreat in 10 days
- Nix (1% permethrin) 10 day residual
- Kwell shampoo (lindane)
- Resistance to both developing
- Occlusion: Vaseline (remove with Dawn soap)
- Enterobius vermicularis: pinworms
- Nocturnal anal pruritus
- Abdominal pain
- Worms (white threads) or eggs on perineum or in stool
- Dx: O&P, clinical, scotch tape test
- Rx: Vermox (mebendazole) 1 tab stat, repeat in 2 weeks.
- Pearl: cam cause vaginitis and/or UTIs in prepubescent girls
Enteroviruses: Non-specific exanthems
- Varied presentation: maculopapular, vesicular, petechial, urticarial
- Other organ systems may be involved: CNS, pulmonary, cardiac
- Very common
- common cold (viral rhinitis)
- otitis media
- 2-3 week incubation
- Parotitis; bilateral in 70%
- The mandibular angle is obliterated
- Stenson’s duct may be red with yellow D/C
- Complications: orchitis, pancreatitis, oophoritis, aseptic meningitis
- Dx: clinical; paired sera
- Rx: symptomatic
Common Pediatric Infections
- Urinary tract infections
- Cutaneous infections: impetigo, perianal strep, cellulitis, abscesses, MRSA, molluscum contagiosum, cutaneous candidiasis
- Shigella: fever & bloody diarrhea
- Enterobias infection (pinworms)
- Infestations: scabies
- Rectal Temperature > 38.0° C (100.4of)
- Rectal temp is gold standard
- Axillary, oral and tympanic temperature determinations are not considered sufficiently reliable for the assessment of fever in infants and young children
- Hyperthermia: rise in body temp due to failed thermoregulation
- Change in hypothalamic ‘set point’: reset core body temp
- Fever does not always represent infection: Children with overwhelming infection may be afebrile or hypothermic
Fever of unknown origin (FUO)
defined as temperature greater than 100.4°F (38°C) lasting for more than 14 days with no obvious cause despite a complete history, physical examination, and routine screening laboratory evaluation
Indications for Seeing a Febrile Infant Immediately
- Age of the child is one of the most important identifiers to the child at risk
- Fever or temperature instability in infants younger than 3 months old is associated with a higher risk of serious bacterial infections than in older infants
- Febrile infants younger than 3 months old who appear ill and all febrile infants younger than 4 weeks old usually are admitted to the hospital for empirical antibiotics pending culture results
- Children between 2 months and 3 years of age are at increased risk for infection with organisms with polysaccharide capsules, including S. pneumoniae, Hib, N. meningitidis, and nontyphoidal Salmonella
- Fever and poor feeding
- Indications by observational assessment: appearance and behavior of alertness include eyes that are "glassy" and "stares vacantly into space, no movement in mother's arms, limpness, pale or cyanotic
- Irritability: severe impairment is indicated by "continual cry despite being held and comforted”, different cry
Serious Bacterial Infections That Are Seen Frequently
- Bacteremia: caused by S. pneumoniae, Hib, nontyphoidal Salmonella, group B streptococcus, or N. meningitidis
- UTI: Escherichia coli
- Pneumonia: S. aureus, S. pneumoniae, or group B streptococcus
- Meningitis: S. pneumoniae, Hib, group B streptococcus, meningococcus, herpes simplex virus [HSV], enteroviruses
- Bacterial diarrhea: Salmonella, Shigella, E. coli
- Osteomyelitis or septic arthritis: S. aureus or group B streptococcus
Diagnostic Approach to an Infant with Fever
- Cultures are the mainstay of diagnosis
- Blood cultures are sensitive and specific for bacteremia
- Urine cultures confirm UTI which may be occult in young infants
- CSF culture via LP with assessment for glucose, protein, cell count and diff, opening pressure, culture and gram stain
- CBC with diff: Initial response to infection, especially in children, is usually a leukocytosis with a neutrophilic response to bacterial and viral infections. In general, bacterial infections are associated with greater neutrophilia than are viral infections. A shift to the left is an increase in the numbers of circulating immature neutrophils, characteristically seen in the early stages of infection and with bacterial infections. Transient lymphopenia has been described with many viral infections
- CXR: useful for the middle and lower respiratory tract
Bacterial Pathogens Responsible For Most Febrile Illnesses in Infants
- Neonates: GBS, E coli, Listeria
- Young infants (in addition to those listed above): S. pneumonia, N. meningitidis, Salmonella
- Occult bacteremia in otherwise healthy children is usually transient and self-limited, but may progress to serious localizing infections, such as pneumonia, meningitis, infectious arthritis, and pericarditis
- Risk factors for occult bacteremia include
- temperature 102.2°F (39°C) or greater
- WBC count 15,000/mm3 or greater
- elevated absolute neutrophil count, band count, ESR, or CRP
- S. pneumoniae as the pathogen in 92 percent of occult bacteremia cases
Symptomatic Treatment of the Febrile Infant and Child
- Cold compresses/blankets
Which Infants Require Hospitalization
Febrile infants younger than 3 months old who appear ill and all febrile infants younger than 4 weeks old usually are admitted to the hospital for empirical antibiotics pending culture results
Initial Treatment of Low Risk Febrile Infants
- Rochester Criteria for Identifying Febrile Infants at Low Risk for Serious Bacterial Infection
- Infant appears generally well
- Infant has been previously healthy:
- Born at term (≥37 weeks of gestation)
- No perinatal antimicrobial therapy
- No treatment for unexplained hyperbilirubinemia
- No previous antimicrobial therapy
- No previous hospitalization
- No chronic or underlying illness
- Not hospitalized longer than mother
- Infant has no evidence of skin, soft tissue, bone, joint or ear infection
- Infant has these laboratory values:
- White blood cell count of 5,000 to 15,000 per mm3 (5 to 15 _ 109 per L)
- Absolute band cell count of ≤ 1,500 per mm3 (≤ 1.5 _ 109 per L)
- Ten or fewer white blood cells per high-power field on microscopic examination of urine
- Five or fewer white blood cells per high-power field on microscopic examination of stool in infant with diarrhea
Follow Up Protocols for Febrile Infants
Regardless of antibiotic treatment, close follow-up for at least 72 hours, including re-evaluation in 24 hours or immediately with any clinical change, is essential
- Normal physiologic or innocent murmurs are common, occurring in at least 80% of normal infants and children at some time in life.
- They have also been called benign, functional, vibratory, and flow murmurs.
- These normal murmurs are heard most often during the first 6 months of life, from 3 to 6 years of age, and in early adolescence.
- Characteristic findings of innocent murmurs include the quality of the sound, lack of significant radiation, and significant alteration in the intensity of the murmur with positional changes.
- Most importantly, the cardiovascular history and examination are otherwise normal.
- The presence of symptoms, including failure to thrive or dysmorphic features, should make one more cautious about diagnosing a "normal" murmur.
- Diastolic, holosystolic, late systolic, and continuous (except for the venous hum) murmurs and the presence of a thrill are not normal.
Normal or Innocent Heart Murmurs
- Still murmur/Vibratory murmur
- Venous hum
- Carotid bruit
- Adolescent ejection murmur
- Peripheral pulmonic stenosis
- Murmur of infancy
Still Murmur/Vibratory Murmur
- Systolic ejection murmur
- LLSB or between LLSB and apex
- Grade I-III/VI
- Vibratory, musical quality
- Intensity decreases in upright position
- Continuous murmur
- Infraclavicular region (right > left)
- Grade I-III/VI
- Louder in upright position
- Changes with compression of jugular vein or turning head
- Any age
- Systolic ejection murmur
- Neck, over carotid artery
- Grade I-III/VI
Adolescent Ejection Murmur
- Systolic ejection murmur
- Grade I-III/VI
- Usually softer when upright position
- Does not radiate to back
Peripheral Pulmonic Stenosis
- Newborn to 6mo
- Systolic ejection murmur
Murmur of Infancy
- Newborn to 6mo
- Axilla and back, LUSB/RUSB
- Grade I-II/VI
- Harsh, short, high frequency