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Child Psychiatry Boards > Intellectual Disabilites/ASD > Flashcards

Intellectual Disabilites/ASD Flashcards

1
Q

What is most common GENETIC cause of ID?

A

Down syndrome (trisomy 21)

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2
Q

What is most INHERITED cause of ID?

A

Fragile X syndrome
gene FMR-1X on the X chromosome

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3
Q

What is the most common PREVENTABLE cause of ID?

A

Fetal Alcohol syndrome

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4
Q

What intelligence test do we use for the following age groups to determine ID who are verbal?
A) 1- 3.5y/o
B) 2.5y/o - 7.5 y/o
C) 6-16y/o

A

A) 1-42 months : Bayley Scale for Infant and Toddler Development

B) 2.5y/o - 7.5 y/o: Wechsler Preschool and Primary Scale of Intelligence (WPPSI)
—-below 4 simpler subsets, above 4 more subsets of tests

C) 6-16y/o: Wechsler Intelligence Scale for Children (WISC)

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5
Q

What IQ test do we use for non-verbal children or those who can’t hear or non-English speaking patient?

A

Leiter International Performance Scale

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6
Q

What IQ test do we use for non-verbal children that can hear?

A

Peabody Picture vocabulary test

(test of verbal comprehension, hearing must be intact because test giver gives instructions)

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7
Q

Mild ID more common in ______ SES.

Moderate, severe, profound ID more common in _____ SES.

A

lower

all (equal amongst all)

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8
Q

Downs syndrome (trisomy 21) and Edwards syndrome (trisomy 18) are caused by what in the cells?

A

meiotic non-disjunction during gamete formation

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9
Q

What syndrome is caused by an increased number of CGG sequences on the DNA that silences the FMR-1 gene through methylation of the gene’s regulatory region leading to loss of FMRP?

A

Fragile X syndrome

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10
Q

T/F: FMR-1 genetic test is required for autism workup.

A

True

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11
Q

There are 2 fragile-X related syndromes. Which can present as intention tremor, affective instability and personality changes in someone between 50-80y/o?

A

Fragile X associated tremor/ataxia syndrome

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12
Q

There are 2 fragile-X related syndromes. Which can present in someone starting menopause <40y/o?

A

Fragile X-associated premature ovarian insufficiency

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13
Q

What is the syndrome associated with severe ID, self injury, severe gout, poor muscle control, joint and renal malformations, writhing and repetitive mvmts?

A

Lesch-Nyhan syndrome

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14
Q

What is the cause of Lesch-Nyhan syndrome?

A
  • deficiency in purine metabolism
  • hypoxanthine-guanine-phosphoribyl transferase (HGPRT) not working so get INCREASED uric acid
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15
Q

What is possible treatment of SIB seen in Lesch-Nyhan syndrome?

A

Naltrexone

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16
Q

What syndrome is caused by absent or non-functional genes on paternal chromosome 15? 2/2 genomic imprinting

A

Prader-Willi syndrome

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17
Q

Most common genetic cause of childhood obesity?

A

Prader Willi

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18
Q

What syndrome presents with these key features:
small hands/feet
morbid obesity
almond eyes
scoliosis
hypotonia
OCD symptoms
frequent skin picking
endocrine abnormalities

A

Prader-Willi

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19
Q

What med can you give to improve cognition and behavior in someone with Prader-Willi?

A

Growth Hormone injections

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20
Q

What can you give to control weight, increase trust and have less disruptive bhx in someone with Prader-Willi?

A

Oxytocin

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21
Q

What syndrome is caused by absent or non-functional UBE3A gene on maternal chromosome 15? 2/2 genomic imprinting

A

Angelman syndrome

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22
Q

What syndrome presents with these key features:
severe ID
mewing cat sound
hypotonia, microcephaly
cardiac issues
hyperactivity, aggression

A

Cri-du-chat

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22
Q

What syndrome presents with these key features:
ID
Seizures
microcephaly
“angels”happy/smiling demeanor

A

Angelman syndrome

23
Q

What is genetic cause of cri-du-chat syndrome?

A

Chromosome 5p deletion

24
Q

What syndrome is caused by

A) microdeletion of 22q11.2?

B) microdeletion of 7q11.23?

C) deletion of chromosome 17 region -> loss of RAI1 gene

A

A) Velocardiofacial syndrome (VCFS)

B) Williams Syndrome

C) Smith-Magenis Syndrome

25
Q

Which ID syndrome puts kiddo at highest risk for childhood onset SZ?

A

Velocardiofacial syndrome (VCFS)

26
Q

What syndrome presents with these key features:
cleft palate + congenital cardiac malformations + long face/wide nose + hypoparathyroidism + hypocalcemia (may lead to seizures)?

A

Velocardiofacial syndrome (VCFS)

27
Q

What syndrome presents with these key features:
elfin appearance + DM + Aortic stenosis + hypercalcemia +hearing loss and are overly friendly and have poor judgement?

A

Williams syndrome

28
Q

What syndrome presents with these key features:
broad lower face
short w/scoliosis
kidney and heart abnormalities
reduced sensitivity to pain/temp
sleep reversal
finger licking
SIB
aggression

A

Smith-Magenis Syndrome

29
Q

What is the neonatal screening test that must be done 2-7 days after birth after feeding?

A

PKU (phenylketonuria)

30
Q

Deficient hepatic enzyme phenylalanine hydroxylase (PAH) (converts phenylalanine to tyrosine ) –> buildup of phenylalanine and phenyl ketone levels causes what disorder?

A

PKU

31
Q

What syndrome appears with these key features:
microcephaly
short palpebral fissures
indistinct philtrum
thin upper lip
micognathia
los nasal bridge
minor ear abnormaltiies
small stature
incoordinated
ID

A

FAS

32
Q

What are the symptoms of untreated PKU?

A

severe ID
seizures
mousy odor
eczema, vomiting

33
Q

In order to test for HIV in children, we use a PCR test to identify ______.

the virus or the antibody?

A

the virus

34
Q

Which article of legislation entitles children to full range of diagnostic, educational, and support services from birth to age 21?

A

Individuals with Disability Education Act
(IDEA)

35
Q

What 2 drugs are FDA indicated for “irritability associated with autistic disorder” (includes SIB as well)?

A

Risperidone
Abilify

36
Q

What are the 2 main components of ASD?

A

1) social-communication issues

2) restricted, repetitive bhxs, interests or activities

37
Q

What syndrome should be considered at top of list if we are given a vignette with a kid with ASD and seizures?

A

Tuberous sclerosis

37
Q

What are the 3 defined single gene disorders that can lead to ASD?

A
  1. Fragile X syndrome
  2. Tuberous sclerosis
  3. Rett’s syndrome (MECP2 gene mutation)
38
Q

Parents have one kid with ASD, what is risk of next child also having ASD?

A

~5%

39
Q

On structural MRI, in a kiddo with ASD you will find ____ (dec or inc) volume of total brain, parietal-temporal lobes and cerebellum.

A

increased

40
Q

On SPECT/PET, in a kiddo with ASD you will find bitemporal and bifrontal _________. (hyperperfusion or hypoperfusion)

A

hypoperfusion

41
Q

What disease has the clinical triad of:
1. ID (often ASD)
2. Seizures
3. Hamartomas (angiofibromas, hypomelanotic macules aka ash leaf spots)

A

Tuberous Sclerosis Complex

42
Q

Retts syndrome has normal development until which month where they start to have deceleration?

A

5 months

43
Q

The approximate age of first concern among parents whose children are subsequently dx with ASD is how many months of age?

A

14-18 months

44
Q

Autism spectrum disorder is associated with ______ (inc or dec) DNA methylation of several genes leading to dysregulated ____ (over or under) expression of gene products involved in the glial-cell dependent synaptic pruning.

  • overexpression of the complement opsonin C1q
  • overexpression/increased levels of CR3
  • overexpression/increased levels of TNF
  • overexpression/increased levels of IRF8 in patients with ASD.
A

Autism spectrum disorder is associated with DECREASED DNA methylation of several genes leading to dysregulated OVERexpression of gene products involved in the glial-cell dependent synaptic pruning.

45
Q

What is the most likely NT abnormality found in kiddos with ASD?

A

raised serotonin levels in their blood

46
Q

What neuroimagine will help detect brain abnormalities in kiddo with ASD to assist in confirmation of dx?

A

MRI

47
Q

T/F
Sterotyped movements is the most likely noticed early sign of ASD by parents?

A

F: joint attention (ie pointing at a desire object)

48
Q

IDEA is made of 4 parts which part A-D?
- part aimed at providing early interventional support to children with disabilities aged 3 to 21 years, including teens with suicidal behavior and emotional turmoil.

  • part concerned with the general provisions of the law.
  • part concerned with the provision of early intervention to infants and toddlers (from birth to 3 years of age).
  • part concerned with national support programs aimed at personnel development and the improvement of federal systems.
A

Part B
Part A
Part C
Part D

49
Q

What neuropathology is seen in ASD related to defective social communication disorders?

___ (inc/dec) gray matter in bilateral amygdala-hippocampus complex and bilateral percuneus AND
slight ____ (inc/dec) in volume in middle-inferior frontal gyrus.

A

DECREASED gray matter in bilateral amygdala-hippocampus complex and bilateral percuneus and slight INCREASE in volume in middle-inferior frontal gyrus have been implicated in defective social communication found in autistic children.

50
Q

What is the average of diagnosis of ASD?

A

3y/o

51
Q

What is the gender ratio in autism for M:F?

A

between 3:1 and 4:1

52
Q

T/F: Males are more likely to exhibit Intellectual disability.

A

False: Females are more likely to exhibit Intellectual disability.

53
Q

T/F; ASD is mostly genetically determined with dizygotic twin studies showing a concordance of 3% to 15%, which would be the risk of ASD in a second child

A

True

54
Q

Which of the following chemical molecule is related to the structural findings of cerebral enlargement in children with autism spectrum disorder (ASD) on magnetic resonance spectroscopy (MRS)?
A. N-Acetyl Aspartate (NAA)
B. Adenosine Triphosphate (ATP)
C. Alanine
D. Aspartic acid
E. Carnitine

A

A. N-Acetyl Aspartate (NAA)

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