Intellectual Disabilites/ASD Flashcards
What is most common GENETIC cause of ID?
Down syndrome (trisomy 21)
What is most INHERITED cause of ID?
Fragile X syndrome
gene FMR-1X on the X chromosome
What is the most common PREVENTABLE cause of ID?
Fetal Alcohol syndrome
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) 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)
What IQ test do we use for non-verbal children or those who can’t hear or non-English speaking patient?
Leiter International Performance Scale
What IQ test do we use for non-verbal children that can hear?
Peabody Picture vocabulary test
(test of verbal comprehension, hearing must be intact because test giver gives instructions)
Mild ID more common in ______ SES.
Moderate, severe, profound ID more common in _____ SES.
lower
all (equal amongst all)
Downs syndrome (trisomy 21) and Edwards syndrome (trisomy 18) are caused by what in the cells?
meiotic non-disjunction during gamete formation
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?
Fragile X syndrome
T/F: FMR-1 genetic test is required for autism workup.
True
There are 2 fragile-X related syndromes. Which can present as intention tremor, affective instability and personality changes in someone between 50-80y/o?
Fragile X associated tremor/ataxia syndrome
There are 2 fragile-X related syndromes. Which can present in someone starting menopause <40y/o?
Fragile X-associated premature ovarian insufficiency
What is the syndrome associated with severe ID, self injury, severe gout, poor muscle control, joint and renal malformations, writhing and repetitive mvmts?
Lesch-Nyhan syndrome
What is the cause of Lesch-Nyhan syndrome?
- deficiency in purine metabolism
- hypoxanthine-guanine-phosphoribyl transferase (HGPRT) not working so get INCREASED uric acid
What is possible treatment of SIB seen in Lesch-Nyhan syndrome?
Naltrexone
What syndrome is caused by absent or non-functional genes on paternal chromosome 15? 2/2 genomic imprinting
Prader-Willi syndrome
Most common genetic cause of childhood obesity?
Prader Willi
What syndrome presents with these key features:
small hands/feet
morbid obesity
almond eyes
scoliosis
hypotonia
OCD symptoms
frequent skin picking
endocrine abnormalities
Prader-Willi
What med can you give to improve cognition and behavior in someone with Prader-Willi?
Growth Hormone injections
What can you give to control weight, increase trust and have less disruptive bhx in someone with Prader-Willi?
Oxytocin
What syndrome is caused by absent or non-functional UBE3A gene on maternal chromosome 15? 2/2 genomic imprinting
Angelman syndrome
What syndrome presents with these key features:
severe ID
mewing cat sound
hypotonia, microcephaly
cardiac issues
hyperactivity, aggression
Cri-du-chat
What syndrome presents with these key features:
ID
Seizures
microcephaly
“angels”happy/smiling demeanor
Angelman syndrome
What is genetic cause of cri-du-chat syndrome?
Chromosome 5p deletion
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) Velocardiofacial syndrome (VCFS)
B) Williams Syndrome
C) Smith-Magenis Syndrome
Which ID syndrome puts kiddo at highest risk for childhood onset SZ?
Velocardiofacial syndrome (VCFS)
What syndrome presents with these key features:
cleft palate + congenital cardiac malformations + long face/wide nose + hypoparathyroidism + hypocalcemia (may lead to seizures)?
Velocardiofacial syndrome (VCFS)
What syndrome presents with these key features:
elfin appearance + DM + Aortic stenosis + hypercalcemia +hearing loss and are overly friendly and have poor judgement?
Williams syndrome
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
Smith-Magenis Syndrome
What is the neonatal screening test that must be done 2-7 days after birth after feeding?
PKU (phenylketonuria)
Deficient hepatic enzyme phenylalanine hydroxylase (PAH) (converts phenylalanine to tyrosine ) –> buildup of phenylalanine and phenyl ketone levels causes what disorder?
PKU
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
FAS
What are the symptoms of untreated PKU?
severe ID
seizures
mousy odor
eczema, vomiting
In order to test for HIV in children, we use a PCR test to identify ______.
the virus or the antibody?
the virus
Which article of legislation entitles children to full range of diagnostic, educational, and support services from birth to age 21?
Individuals with Disability Education Act
(IDEA)
What 2 drugs are FDA indicated for “irritability associated with autistic disorder” (includes SIB as well)?
Risperidone
Abilify
What are the 2 main components of ASD?
1) social-communication issues
2) restricted, repetitive bhxs, interests or activities
What syndrome should be considered at top of list if we are given a vignette with a kid with ASD and seizures?
Tuberous sclerosis
What are the 3 defined single gene disorders that can lead to ASD?
- Fragile X syndrome
- Tuberous sclerosis
- Rett’s syndrome (MECP2 gene mutation)
Parents have one kid with ASD, what is risk of next child also having ASD?
~5%
On structural MRI, in a kiddo with ASD you will find ____ (dec or inc) volume of total brain, parietal-temporal lobes and cerebellum.
increased
On SPECT/PET, in a kiddo with ASD you will find bitemporal and bifrontal _________. (hyperperfusion or hypoperfusion)
hypoperfusion
What disease has the clinical triad of:
1. ID (often ASD)
2. Seizures
3. Hamartomas (angiofibromas, hypomelanotic macules aka ash leaf spots)
Tuberous Sclerosis Complex
Retts syndrome has normal development until which month where they start to have deceleration?
5 months
The approximate age of first concern among parents whose children are subsequently dx with ASD is how many months of age?
14-18 months
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.
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.
What is the most likely NT abnormality found in kiddos with ASD?
raised serotonin levels in their blood
What neuroimagine will help detect brain abnormalities in kiddo with ASD to assist in confirmation of dx?
MRI
T/F
Sterotyped movements is the most likely noticed early sign of ASD by parents?
F: joint attention (ie pointing at a desire object)
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.
Part B
Part A
Part C
Part D
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.
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.
What is the average of diagnosis of ASD?
3y/o
What is the gender ratio in autism for M:F?
between 3:1 and 4:1
T/F: Males are more likely to exhibit Intellectual disability.
False: Females are more likely to exhibit Intellectual disability.
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
True
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. N-Acetyl Aspartate (NAA)
