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An 11 year old boy is evaluated for developmental delay, poor school and social performance. Formal IQ testing reveal his IQ to be 50. He has a macrocephaly, long face and macroorchidism:
What is the most likely cause
What is the gentic cause
What are the co-morbid genetic conditions
- Fragile X
- X-linked dominal inheritance
- CGG repeats w/ anticipation
- Cx = Seizures, MVP, dilation of the aorta, tremors, ataxia, ADHD-like behavior.
- MC cause of inherited MR.
A newborn baby has decreased tone, oblique palpebral fissures, a simian crease, big tongue, white spots on his iris
what are the whitespots called
- Diagnosis: down syndrom
- white spots: brushfeild spots
What can you tell his mother about his expected IQ? for down syndrome
He will likely have mild-moderate MR. Speech, gross and fine motor skill delay
Common medical complications down syndrom ?
- Endocrine :
- Heart?VSD, endocardial cushion defects
- -GI? Hirschsprung's, intestinal atresia, imperforate anus, annular pancreas
- -Endocrine? Hypothyroidism
- -Msk? Atlanto-axial instability- careful for intubation
- -Neuro? Incr risk of Alzheimer's by 30-35. (APP is on Chr21)
- -Cancer?10x increased risk of ALL
Café-au-laitspots, seizures large head. Autosomal dominant
oarse facies, short stature, cloudy cornea. Autosomal recessive.
Broad, square face, short stature, self-injurious behavior. Deletion on Chr17
Hypotonia, hypogonadism, hyperphagia, skin picking, agression. Deletion on paternal Chr15.
Seizures, strabismus, sociable w/ episodic laughter. Deletion on maternal Chr15.
Elfin-appearance, friendly, increased empathy and verbal reasoning ability. Deletion on Chr7.
ADHD-like sxs, microcephaly, smooth philtrum. Most common cause of mental retardation.
Fetal Alcohol Syndrome
Seizures, chorioretinitis, hearing impairments, periventricular calcifications, petechiae@ birth, hepatitis.
Congenital CMV infection.
Seizures, hearing impairments, cloudy cornea/retinitis, heart defects, low birth weight.
Congenital Rubella Syndrome
Abnormal muscle tone, unsteady gait, seizures, mental retardation or learning disability.
Cerebral Palsy from birth asphyxia.
IUGR, hypertonia, distinctive facies, limb malformation, self-injurious behavior, hyperactive.
Cornelia de Lange
Coloboma, heart defects, choanalatresia, growth retardation, GU anomalies, ear deformity and deafness. Chr8.
Autism spectrum sxs, heart disease, palate defects, hypopasticthymus, hypoCa. Chr22 deletion.
Vomiting, seizures, lethargy, coma. Acidosis w/ stress, illness. Causes neurological damage.
Maple Syrup Urine Disease
Exclusively in girls, normal development for 6-8mo, then regression, handwringing, loss of speech and use of hands. X-linked dominant deletion of MECP2.
Normal development until age 2 then major loss of verbal, social skills w/ autistic like behavior.
Childhood Disintegrative Disorder
Lack of mother-child eye contact, language delay/repetitive language, preoccupation w/ "parts of toys" before age 3.
Problems with social skills (usually recognized in preschool) w/ preserved verbal ability.
A 7 year old boyis brought in by his parents. They report he must be told several times to complete his chores, they cannot get him to focus on completing his homework (he is easily distracted), and that he often loses his shoes, pencils, books, etc.
next best step
- Normal age appropriate behavior !!!-- Diagnosis of ADHD- need misbehaviour in 2 settings
- Next best step : How does he do at school
Risk facotris for ADHD
Family history 77% heritability, LBW tobacco ETOH exposure
Co morbid ocnditons with ADHD
ODD/CD in 30 - 50%
TREATMENT IN ADHD
- Methylphenidate (blocks only Da) - Nausea, decrease appetite, increase HR And BP stunted growth
- Amphetamine (blocks da and Ne)- same se
- Atomoxetine NE reuptake inhibitor non stimulant
A 14 year old boy is sent for court mandated counseling. He stole his neighbor's lawn mower and then set fire to his tool shed. He has a 5 year history of truancy from school and assaulted a 13 year old school mate.
Conduct Disorder. Need sxs for 6mo.Comorbid substance abuse. May progress to anti-social personality disorder
A 14 year old boy is brought in by his grandmother. For the past year, he has been getting in trouble at school for being argumentative and disrespectful to his teachers. He defies the rules she sets for the house and often deliberately annoys her.
- Oppositional Defiant Disorder. Need sxs for 12mo.
- Stops just short of breaking the lay or physically harming others.
A 9 year old boy is sent to counseling at the recommendation of his teacher. She states that at least once a day he makes loud grunting noises and hand movements that are disruptive to the class
For tics to qualify as Tourettes they must occur at least once a day for 1 year w/o a tic-free period longer than 3mo
Comorbid conditions for tourettes ?
Look for the compulsions of OCD
Treatment for tourettes
first line vs. most effective
- -First line? Clonidine 2/2 relatively benign S/E profile
- - Most Effective?- Haloperidol or pimozide-DA-receptor antagonists
7 year old complains of frequent abdominal pain resulting in many missed school days. He never gets the pain on the weekends or in the summer.
Separation Anxiety Disorder
6 year old adopted child is brought in because she has not formed a relationship with her adoptive parents. She is inhibited and hyper vigilant.
Reactive Attachment Disorder
An 18mo old baby has recently been regurgitating and re-chewing her food. She had previously been eating normally.
- Rumination Disorder.
- Check lead levels.
6y/o stools in her clothes once every 2 weeks.
Next best test?
- Next best test is to check for fecal retention
- treatment is behavioural modification that only rewards
6 y/o that unrinates in her clothes once a day
- Next best test? R/o UTI
- Treatment: alarm and pad