Intellectual Disabilites/ASD Flashcards by Ashley Hite

What is most common GENETIC cause of ID?

Down syndrome (trisomy 21)

How well did you know this?

Not at all

Perfectly

What is most INHERITED cause of ID?

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

How well did you know this?

Not at all

Perfectly

What is the most common PREVENTABLE cause of ID?

Fetal Alcohol syndrome

How well did you know this?

Not at all

Perfectly

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)

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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)

How well did you know this?

Not at all

Perfectly

Mild ID more common in ______ SES.

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

lower

all (equal amongst all)

How well did you know this?

Not at all

Perfectly

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

meiotic non-disjunction during gamete formation

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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

True

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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

Fragile X-associated premature ovarian insufficiency

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

What is the cause of Lesch-Nyhan syndrome?

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

How well did you know this?

Not at all

Perfectly

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

Naltrexone

How well did you know this?

Not at all

Perfectly

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

Prader-Willi syndrome

How well did you know this?

Not at all

Perfectly

Most common genetic cause of childhood obesity?

Prader Willi

How well did you know this?

Not at all

Perfectly

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

How well did you know this?

Not at all

Perfectly

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

Growth Hormone injections

How well did you know this?

Not at all

Perfectly

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

Oxytocin

How well did you know this?

Not at all

Perfectly

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

Angelman syndrome

How well did you know this?

Not at all

Perfectly

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

Cri-du-chat

How well did you know this?

Not at all

Perfectly

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

Study These Flashcards

Angelman syndrome

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

Study These Flashcards

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?

1. Fragile X syndrome 2. Tuberous sclerosis 3. 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)

Intellectual Disabilites/ASD Flashcards

(56 cards)