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Definition of perinatal death
Death between 20th week of pregnancy and 28th day of life
Definition of neonatal death
Death between birth and 28th day of life (including death due to illness caught during this period)
Definition of postnatal death
Death between 28 days and one year
Most neonatal deaths caused by these two things:
Congenital abnormalities and illnesses
VLBW children are ____ times more likely to suffer neonatal death
200 times more likely
Fetal oxygen blood levels are (lower/same/higher) than those of older children
The same as - this is due to fetal Hb higher affinity to oxygen
When does fetal hemoglobin production decrease
During last trimester of pregnancy
When can we expect to see only adult hemoglobin in a baby
At 3-6 months
The ________ allows about __% of the oxygenated blood from the placenta to bypass the liver
__% of the blood entering the right atrium is shunted to the left atrium via the ________
__% of the blood in the pulmonary artery is shunted to the ______ via the _________ (aka the ___________)
- Ductus arteriosus
- Ductus Botalli
Which chamber of the heart is the dominant chamber in utero?
What do each of the fetal shunts become after closure?
- Ductus venosus - ligamentum venosum
- Foramen ovale - fossa ovalis
- Ductus arteriosus - ligamentum arteriosum
What does APGAR stand for
If CPR is needed on a neonate, what are the frequencies required of pulse and breathing?
- 120 compressions/minute
- 3:1 compressions-to-breathing
Normal pulse/breathing frequency for a neonate
- 120-160 bmp
- 30-60 breathes per minute
What is Sturge-Weber syndrome
It is a phakomatosis (neurocutaneous syndrome) causing port-wine stains on face, glaucoma, mental retardation and seizures. It is sporadic and is characterized by multiple angiomas on side of brain ipsilateral to the above listed conditions.
A large fontanelle is associated with these conditions
Hydrocephalus and Hypothyroidism
What is leukocoria and is it normal?
White reflexion in eye - it is abnormal in humans and can indicate a number of disorders
What are Epstein's pearls
White growths on roof of mouth of most newborns - they are harmless and resolve spontaneously
Three common problems leading to unpaired lung sounds and how to differentiation them
- 1) Collapsed lung (heart moves towards)
- 2) Pneumothorax (heart moves away)
- 3) Herniated diaphragm (heart moves towards)
What are S1 and S2 and when is it normal to hear each
- S1: AV valves closing (must be heard during 1st day)
- S2: Semilunar valves closing (may not be heard during 1st day)
Two causes for a left-shifted liver in a newborn
- 1) Situs inversus
- 2) Aspleenia
How many arteries/veins in the umbilical cord
One vein (carries oxygenated blood to fetus) and two arteries (carry deoxygenated blood to placenta)
What can bleeding around the navel indicate?
Portal vein thrombophlebitis or extrahepatic portal hypertension
What is gastroschisis
Abdominal herniation lateral to the umbilicus
What is hydrocele?
A collection of fluid in a body cavity - in cases of infants, we are typically speaking of hydrocele testis.
How does one differentiate between hydrocele testis and a testicular tumor?
Attempt to shine a light through the scrotum - hydrocele testis tend to permit light through while a testicular tumor tends to block it.
Names of the maneuvers used to detect and then confirm a hip displacement
Barlow and Ortolani maneuvers
What is a caput succedaneum and when is it commonly seen?
A subcutaneous, extraperiosteal collection of fluid commonly seen with face-first and long-duration labour.
What is a cephalic hematoma and when is it commonly seen?
Subperiosteal, extracranial collection of blood commonly caused by vacuum delivery
What is Mobius syndrome?
Facial paralysis due to underdevelopment of CNs V & VIII
What is Erb-Duchenne palsy?
Inability to move the arm due to damage to C5 & C6 - arm most commonly in 'waiter's tip' postion
What does paralysis of the phernic nerve cause?
Unilateral diaphragmatic paralysis
What is Klumpke's paralysis?
Paralysis of lower arm and hand due to damage to C7-T1 - presents as 'claw hand'
What is the color of a hypothermic baby?
Order in which growth parameters are affected due to calorie restriction:
Weight, then length, then finally head circumference
Classic example of illness which increases caloric demand
What causes deficiencies in weight and length, but NOT in head circumference?
What causes a disproportional increase in head size?
What causes a disproportional decrease in head size?
Important illnesses tested for by hielprik
- Remember 'Heel Prick Catches Most fat BAGS'
- Hypothyroidism (congenital)
- fat (MCADD, LCHAD, VLCAD)
- Biotinidase def.
- Sickle-cell anemia/Thalassemia
Illness likely to be included in future hielprik screening
What is PKU
Phenylketonuria - defect in Phenylalanine Hydroxylase (which converts Phe to Tyr) leads to incr. in Phe and Phenylpyruvate (aka phenylketone - a metabolite of Phe). Phe competes with other AAs for transport into devleloping neurons, leading to mental retardation
Diagnosis of PKU via urine
Add FeCl3 to urine - should turn brown, but in case of PKU turns olive green
Symptoms of PKU
Mouse smell, psychomotor deficiencies, eczema, light pigmentation
What is CF
Cystic Fibrosis - defect in chloride and sodium transport across epithelium leads to thick mucous (esp in lungs). Name comes from characteristic scaring and cysts which typically form in pancreas.
What is MSUD
Maple Syrup Urine Disease - defect in breakdown of branched chain amino acids Leucine, Isoleucine and Valine. Leads to brain damage if not controled during infancy.
What is Galactosemia, its symptoms and its treatment?
Defect in galactose-1-phosphate uridyltransferase (GALT) - enzyme needed to break down galactose (a sugar found in dairy products - is also a metabolite of lactose). Causes neurological issues, ovarian disfunction and cataracts. Treatment involves a galactose and lactose free diet.
Test used to screen for TB and what a positive signal is
Against which illnesses are all Dutch children vaccinated?
- 4x M (Measles, german Measles, Mumps, Meningococcal infections)
- 3x P (Polio, Pneumococcal infections, Pertussis)
- 2x H (Hep B, HIB)
- CDT (Cervical Cancer, Diphteria, Tetanus)
List three benefits of breastfeeding for the MOTHER
- Lower risk of:
- - post-partum bleeding
- - ovarian & breast cancer
- - osteoperosis
How often should a newborn be fed
8-12 times/day during first few weeks
What is colostrum?
Milk produced just before/after birth.
How many times per day should a baby defecate?
Around 4 times per day
How much weight can a normal baby be expected to lose in its first week of life and by when should it be back to birthweight?
Not more than 7% - should be back to birthweight by day 10.
What do a newborn's BMs look like?
Yellow and water - this is normal
What is physiologic jaundice and how does it develop?
Jaundice which appears after ~24 hours of life due to not-yet-properly-functioning UDPG. Bilirubine typically peaks at around 12mg/dL (fully 25x higher than a nl level) on around day 3 (15mg/dL and day 5 for premies) and is back to normal by day 7.
What is pathological jaundice?
A jaundice level of over 13mg/dL (or >0.5mg/dL/hr) - kernicterus becomes a concern
Up to what age can a baby thrive on only breastmilk?
When does genetal formation occur inutero?
Which gene/chromosome is responsible for sexual differentiation?
SRY on Y chromosome induces masculinization - otherwise fetus will be female
Name the embryological structures which form the female and male reproductive organs
- Female: Müllerian ducts
- Male: Wolfian ducts
Critical threshold for diagnosis of PKU
Plasma phenylalanine > 360 umol/L
Often confused with galactosemia
HFI (Hereditary Fructose Intolerance) - deficiency in Aldolase - enzyme which converts FBP to DHAP
What is MCADD?
Medium Chain Acyl-CoA Dehydrogenase Deficiency - deficiency in body's ability to break down medium chain fatty acids. One of causes of SIDS. Presents as hypoketonic hypoglycemia.
What is Reye's syndrome?
Hypoglycemia along with damage to numerous organs (esp. liver & brain) due to uknown mechanisms. Sometimes associated with excessive Aspirin use.
What is biotin?
Vitamin B7 - involved in metabolism of carbohydrates, fats and proteins
What is biotinidase deficiency and what are its symptoms?
Deficiency in enzyme needed to break down biotin (B7) - leads to seizures, hypotonia, sensoneural defects and hair loss.
What is CHT and what are its symptoms?
Congenital Hypothyroidism due to embryogenic fault. TSH is high while free T4 is low (nl. 4-11 ug/dL)
What is AGS?
Androgenitaal Syndroom - [eng: CAH (Congenital Adrenal Hyperplasia) due to 21-hydroxylase deficiency]. Most common form of CAH (accounts for 95% of cases). Leads to virilization of females and primary amenorrea (due to incr. testosterone) with no significant sexual effect on males. Also leads to salt-wasting and circulatory collapse (due to decr. aldosterone and cortisol, resp). Treat with hydrocortisone (cortisol).
Where is hemoglobin metabolised?
Spleen, liver and bone marrow
What is Crigler-Najjar syndrome?
- Type 1: Complete lack of UDPG - does not respond to enzyme induction.
- Type 2: Deficiency in UDPG - responds to enzyme induction.
What is Gilbert's syndrome?
Mutation in the promotor region of UDPG - results in mild hyperbilirubinemia
What is breastfeeding jaundice?
Jaundice induced by proteins in breastmilk which inhibit UDPG - occurs during first few weeks of life and generally does not exceed 20mg/dL
What is kernicterus?
Unconjugated bilirubin higher than 25 mg/dL - leads to neurological disorders among other issues (incl. decr. Moro response)
What is a Moro response, when should it dissapear and what part of the CNS is required for its function?
Aka 'scare the s**t out of the kid' response - make baby think it is falling and ensure it spreads its arms out, then brings them in, then (usually) cries. Interesting note: fear of falling is believed to be the only unlearned fear in infants. Should disappear by 4-6 months. Involves brainstem and vestibular nuclei.
Two treatments for newborn jaundice
- - Bili light
- - Blood transfusion (via umbilical venous catheter which only works if ductus venosum is still open)
What is funisitis?
Inflammation of umbilical cord connective tissue
Most common early onset pathogens affecting neonates
- Remember 'GEK Huis'
- -Group B/D staphylococci
- -E. Coli/Enterobacter
- -Heamophilus influenzae
Most common late onset pathogens affecting neonates
- CNS (Coagulase-Negative Staphylococci)
- S. Auresu
Babies born before __ weeks of gestation do not have the advantage of maternal antibodies
Most important symptom of sepsis in a newborn
Most common causes of Acute Life Threatening Events in newborns
- Gastro-esophagal reflux
Definition of SIDS
Sudden Infant Death Syndrome - death at less than one year of age due to unclear reasons
Risk factors for SIDS
- - Being a boy
- - Smokers in house
- - Premies/LBW babies
- - Siblings who died from SIDS
- - Drug using mothers
Most common causes of SIDS
Use SIDS as acronym to remember:
- Seizures (epileptic) & brain tumors
- Deficiency of MCAA (MCAAD)
- Spasms of larynx % GE reflux
Preventative measures to avoid SIDS
Lay child on back and don't have too many pillows in crib
What is OSA?
Obstructive Sleep Apnea
What are options for treatment of OSA?
- CPAP - Continuous Positive Airway Pressure (positive pressure forces air into lungs)
- BiPAP - Bilevel Positive Airway Pressure (assists in both inspiration and expiration)
Common causes of Central Alveolar Hypoventilation
- Increased intracranial pressure
- Mitochondrial metabolic disorders
Differential diagnosis for unconjugated hyperbilirubinemia
- Start with the obvious ones:
- - Increased hemolysis
- - Congenital conjugation disorders (e.g. Craigler-Najjar or Gilbert's syndrome)
- - Infection (of liver)
- - Dehydration (GFR decr, so bilirubin not cleared as quickly)
- - Breastfeeding (due to proteins which bind UDPG)
- Then remember the two slightly more obscure ones:
- - Increase in interohepatic circulation such as via Hirschsprung's disease (B-glucoronidases in brush border deconjugate bilirubin and it is reabsorbed)
- - Hypothyroidism (no f**king idea)
Differential diagnosis for conjugated hyperbilirubinemia
- Blockage of biliary tree
- Neonatal hepatitis
The kidneys filter (conjugated/unconjugated) bilirubin.
Conjugated - unconjugated bilirubin is attached to albumin which is far too large to be excreted.
What is Hirschsprung's disease?
Lack of innervation (via the enteric nervous system) of the end of the bowel
What is the dominance of the blood group alleles, the resulting blood type and the frequency?
- A and B are codominant, O is recessive. Thus:
- AO, AA = A (~40%)
- BO, BB = B (~10%)
- AB = AB (~5%)
- OO = O (~50%)
When does a developing fetus begin to express ABO antigens?
Around 30 weeks
What is the reservoir for Group B Streptococci?
Percentage of women who are GBS carriers?
How is vertical transmission of GBS prevented?
Penicillin given to mother four hours before labour and repeated every four hours.
What types of maternal thyroid disorders can affect the thyroid of the developing fetus?
Autoimmune hypothyroidisms (e.g. Hashimoto, Graves)
Treatment for gastro-esophageal reflux
Cisapride (gastroprokinetic agent) - trademarked as Propulsid and WITHDRAWN from US market due to suspected induction of long QT syndrome
Stopping of breathing for more than two breath cycles
Decrease in airflow of more than 50% for more than two breath cycles
Oxygen Desaturation Index - number of times per hour that oxygen saturation drops more than 4% due to apnea
Apnea Hypopnea Index - number of times per hour that apnea or hypopnea events occur
What is a grijpreflex, when should it disappear and what part of the CNS is required for its function?
Baby grips finger placed in its palm. Should disappear by 4-6 months and involves the brain stem and the vestibular nuclei.
What is a Zuigreflex, when should it disappear and what part of the CNS is required for its function?
Baby sucks on something placed in its mouth. Should disappear by 4-6 months and involes brain stem and trigeminal nuclei.
What is a Zoekreflex, when should it disappear and what part of the CNS is required for its function?
Baby moves its head in search of nipple after something brushes its lips. Should disappear after 4-6 months and involves spinal cord.
What is a Stapreflex, when should it disappear and what part of the CNS is required for its function?
Baby moves legs in walking motion in response to pressure on feet. Should disappear by 4-6 months and involves cerebral cortex.
What is Romp incurvatie, when should it disappear and what part of the CNS is required for its function?
Touching the skin over the vertebra leads to a curvature along the spinal cord. Should disappear by 4-6 months and involves the spinal cord.
What is a Tonische nekreflex, when should it disappear and what part of the CNS is required for its function?
Turning head results in 'fencer position' - arm and leg on side to which head is turned extend and arm and leg on other side bend. Should disappear by 4-6 months and involves the brain stem and vestibular nuclei.
What is a Parachute reflex, when should it disappear and what part of the CNS is required for its function?
Baby attempts to catch itself when placed face down over a table. Begins at 6-8 months and should NEVER disappear and involves the brain stem and vestibular nuclei.
What is a Landau response, when should it disappear and what part of the CNS is required for its function?
Baby arches back and head when held face down over a table. Begins at 6-8 months and ends at 15-24 months. Involves brain stem.
When does development of the inner ear begin and end?
Begins at 4 weeks and is working by 5 months.
What is an OAE
Oto-Aukoestische Emissie (engl. Otoacoustic Emission) - sounds made by inner ear which can be detected to measure inner ear helth
What is a BERA?
Brainstem Evoked Response Audiometry - response to sounds measure using probes placed on head
Most common defect in hearing in children?
Conduction abnormality in middle ear
Three diseases which can lead to hearing loss in children.
CMV, rubella, meningitis
- 4-8 months: babble
- 8-12 months: social babbling, imitation
- 1-1.5 years: 5-10 word vocab
- 1.5-2 years: two word sentences
- 2-3 years: three word sentences
- 3-4 years: 4-5 word sentences
Difference btwn Phonological and Phoenetic disorder
- Phonological = organizing speech sounds into proper patterns of speech
- Phoenetic = actual formation of sounds
Percentage of children having psychosocial problems
Four aspects measured by Denver Developmental Screening Test
- Social contact
- Fine motor skill
- Gross motor skill
Three ranges of IQ for mental retardation
- 50-70 (mild)
- 35-50 (moderate)
- 20-35 (severe)
Hemiplegie vs diplegie vs quadriplegie
- Hemiplegie = one side (arm and leg)
- Diplegie = both legs
- Quadraplegie = both arms and both legs
Four types of cerebral palsy, their causes and frequency
- Spastic (75%) - damage to most caudal pyramidal motor neurons. Causes abnormal movement patterns, hightened tonus en pathological reflexes
- Dyskinetic (15%) - CAUSE NOT GIVEN. Causes abnormal movement patterns, involuntary, uncontrolled, recurrent movements
- Ataxic - damage to cerebellum. Abnormal holding and movement, loss of controlled muscle coordination.
- Choreoathetotic - often caused by hyperbilirubinemia. Hyperkinesia and hypotonia.
Formulas for height
- Girls: Avg of parent's heights - 4.25cm (+/- 9cm)
- Boys: Avg of parent's heights + 8.75cm (+/- 9cm)
Def of LBW, VLWB and ELBW
- LBW: < 2500g
- VLBW: <1500g
- ELBW: <1000g
Def of premature, moderately premature and extremely premature
- Premature: < 37 weeks
- Moderately premature: < 32 weeks
- Extremely premature: < 26 weeks
Minimum length for normal penis at birth
2.5 cm (much higher if Lebanese)
Normal sleeping time per day for newborn
16-17 hours per day
Caloric needs of newborn
Vitamin requirements for babies
- Vit D (400 IU/day) until 4th birthday
- Vit K from day 8 until 3 months
Diff btwn dominant GI bacteria in breastfed vs. bottlefed child
- Breastfed: Lactobacillus
- Bottlefed: Coliform bacteria (e.g. E. Coli)
What is the Barker Hypothesis?
Fetuses exposed to poor nutrition are modified to better survive in an environment with scarce nutritional resources.
Percentage of children born who are boys.
Lower than 3rd percentile at birth
Intra-Utereine GroeiRetardatie - due to low placental transfer of glucose, oxygen and amino acidds. Is NOT the same thing as SGA.
What is Seckel syndrome?
IUGR associated with dwarfism
Four causes for serotiniteit
- Remember FAST (as in I want to deliver this damn kid FAST!!!!)
- False conception date
- Seckel syndrome
- Trisomy 16,17 (both not usually compatible with life) and 18 (Edwards' syndrome)
What is the Beckman-Wiedemann syndrome?
LGA children with several structural abnormalities and a 600x higher chance of developing certain childhood cancers.
Definition of hypothermia
Temp < 36.5 C
Blood sugar < 2.5 mmol/L
What is Propanolol
Nonselective beta-blocker - can mask hypoglycemia
Hct > 65%
What does TORCH stand for?
- Other (remember SHEPHERD)
- ..Parvovirus B19
- ..varicElla zosteR Virus (Dude)
- Herpes simplex virus
Most common TORCH disease
__% of Dutch women are carriers of ___!!!
What is HIE?
Hypoxic Ischemic Encephalopathy
What is ODB?
Open Ductus Botalli (which is the gay name for Ductus Arteriosus)
Risk factors for RDS
- <32 weeks gestation
- Male gender
- White race
- Cesaerean Section
- Maternal Diabetes
Treatment for ODB
- Fluid restriction
- NSAIDS (indometacine, ibuprofen)
- Surgery (if necessary)
What is IVH and what are its symptoms
- Intraventricular Hemorrhage - typically arises within 72 hours of birth and is mainly asymptomatic but does cause a quick decrease in Hb levels. IVH can be categorized into four levels
- Level I: Bleeding in germinal matrix
- Level II: Blood inventricles
- Level III: Ventricles enlarged from blood
- Level IV: Blood escapes ventricles and forms Intraparenchymal Echointensities (IPEs) (an infarct)
What is PVL?
Periventricular Leukomalacia - necrosis of white matter adjacent to ventricles
What is NEC
Necrotising Enterocolitis - this is a VERY serious condition in which part of the GI tract dies. Cause is uknown but prematurity is a risk factor. Fully 30% of victims will die! Because infections seem to be linked to NEC, antibiotics are indicated.
What is ROP?
Retinopathy of Prematurity - caused by disorganized growth of retinal blood vessels leading to scarring and retinal detachment. Risk factors include prematurity, low birth weight and receiving FiO2>0.4 for more than three days.
Risk factors for ROP
High O2 AND high CO2 (WTF), race (white's are more affected), vit E def and blood transfusions
What is Threshold disease
Stage 3 ROP in zones 1 or 2 (innermost zones of eye) - defined as 50% chance of progressing to retinal detachment
What is Plus disease?
Dilation and twisting of vessels in posterior retina - indicates severe ROP
Treatment for ROP
Laser therapy or cryotherapy
What is DST?
Dynamic System Theory (of childhood development) - states that inner and outer elements play a role in development of CNS. Disadvantage is that it leaves no room for genetics to play a role.
What is NGST?
Neural Group Selection Theory - v. difficult to understand - just know that primary variations in neural connections are NOT altered by conditions.
Percentage of children with congenital hearing loss in Holland
Critical hearing loss threshold at which a child will miss half of what is said
Intelligence tests used for children based on age
- 2-42 months: Bayley
- 3-6.5 yrs: WPPSI-R
- 6-16 yrs: WISC III
Three domains for developmental delays
- Progressive: Think of metabolic sickness
- Non-progressive: Think of cerebral palsy due to brain injury
- Milestone always missed: Think of neurodegenerative disorders