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  1. 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.
  2. 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
  3. 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
  4. Common medical complications down syndrom ?
    - GI:
    - Endocrine :
    - MSK:
    • 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
  5. Café-au-laitspots, seizures large head. Autosomal dominant
  6. oarse facies, short stature, cloudy cornea. Autosomal recessive.
    Hurler Syndrome
  7. Broad, square face, short stature, self-injurious behavior. Deletion on Chr17
    Smith Magenis
  8. Hypotonia, hypogonadism, hyperphagia, skin picking, agression. Deletion on paternal Chr15.
  9. Seizures, strabismus, sociable w/ episodic laughter. Deletion on maternal Chr15.
  10. Elfin-appearance, friendly, increased empathy and verbal reasoning ability. Deletion on Chr7.
  11. ADHD-like sxs, microcephaly, smooth philtrum. Most common cause of mental retardation.
    Fetal Alcohol Syndrome
  12. Seizures, chorioretinitis, hearing impairments, periventricular calcifications, petechiae@ birth, hepatitis.
    Congenital CMV infection.
  13. Seizures, hearing impairments, cloudy cornea/retinitis, heart defects, low birth weight.
    Congenital Rubella Syndrome
  14. Abnormal muscle tone, unsteady gait, seizures, mental retardation or learning disability.
    Cerebral Palsy from birth asphyxia.
  15. IUGR, hypertonia, distinctive facies, limb malformation, self-injurious behavior, hyperactive.
    Cornelia de Lange
  16. Coloboma, heart defects, choanalatresia, growth retardation, GU anomalies, ear deformity and deafness. Chr8.
  17. Autism spectrum sxs, heart disease, palate defects, hypopasticthymus, hypoCa. Chr22 deletion.
  18. Vomiting, seizures, lethargy, coma. Acidosis w/ stress, illness. Causes neurological damage.
    Maple Syrup Urine Disease
  19. Exclusively in girls, normal development for 6-8mo, then regression, handwringing, loss of speech and use of hands. X-linked dominant deletion of MECP2.
    Rett Syndrome
  20. Normal development until age 2 then major loss of verbal, social skills w/ autistic like behavior.
    Childhood Disintegrative Disorder
  21. Lack of mother-child eye contact, language delay/repetitive language, preoccupation w/ "parts of toys" before age 3.
  22. Problems with social skills (usually recognized in preschool) w/ preserved verbal ability.
  23. 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
  24. Risk facotris for ADHD
    Family history 77% heritability, LBW tobacco ETOH exposure
  25. Co morbid ocnditons with ADHD
    ODD/CD in 30 - 50%
    • 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¬†

    • antidepressants¬†
    • Clonidine
  27. 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
  28. 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.
  29. 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
  30. Comorbid conditions for tourettes ?
    Look for the compulsions of OCD
  31. 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
  32. 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
  33. 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
  34. An 18mo old baby has recently been regurgitating and re-chewing her food. She had previously been eating normally.
    • Rumination Disorder.
    • Check lead levels.
  35. 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
  36. 6 y/o that unrinates in her clothes once a day
    • Next best test? R/o UTI
    • Treatment: alarm and pad
Card Set:
2016-08-04 02:43:19
Emma Holliday
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