Etiology
Which factor(s) contributes most strongly to ASD risk?
Genetic
What are the two core domains required for diagnosis?
(1) Social communication/interaction deficits and (2) Restricted/repetitive behaviors.
ASD affects about how many children in the U.S.?
Approximately 1 in 36
What kind of repetitive behaviors are commonly seen in ASD?
Hand flapping, lining up toys, repeating phrases (echolalia). TRAINSSS
What does the PTEN gene normally do in healthy cells?
It regulates cell growth by inhibiting the PI3K/AKT signaling pathway, preventing uncontrolled proliferation.
Name one chromosomal condition associated with ASD.
Fragile X syndrome or Rett syndrome.
Which tool involves direct observation of the child’s behavior?
ADOS-2 (Autism Diagnostic Observation Schedule).
Which gender is diagnosed more frequently with ASD?
Males
Name one early behavioral sign that may appear before 18 months.
Lack of response to name, absence of pointing, limited babbling.
PTEN mutations are most commonly associated with which physical characteristic seen in some individuals with ASD?
Macrocephaly (increased head circumference).
Name one environmental exposure associated with increased ASD risk.v
Advanced parental age, prenatal valproate exposure, or prematurity
Which tool gathers structured parental interviews for ASD diagnosis?
ADI-R (Autism Diagnostic Interview–Revised).
Why might females with ASD be underdiagnosed?
They may mask symptoms through social imitation or compensation.
What early developmental red flag often appears by 12 months in children who later receive an ASD diagnosis?
Lack of response to name or limited social smiling.
Why is it clinically important to identify a PTEN mutation in a child with ASD and macrocephaly?
Because it indicates increased risk for PTEN Hamartoma Tumor Syndrome and requires cancer surveillance.
What does neuroimaging often show in individuals with ASD?
Altered connectivity between brain regions; differences in social/communication networks.
What is the earliest age at which ASD can be reliably diagnosed?
As early as 18–24 months with careful developmental assessment.
What social determinant can delay ASD diagnosis?
Limited healthcare access, racial/ethnic disparities, or lower socioeconomic status.
What aspect of nonverbal communication is often affected in ASD presentations?
Poor eye contact, limited use of gestures, and difficulty understanding facial expressions.
Approximately what percentage of children with ASD and macrocephaly carry PTEN mutations?
About 5–10%.
What do twin studies reveal about ASD heritability?
Concordance rates of 70–90% in identical twins → strong genetic component.
Which standardized developmental screening tool is commonly used in primary care to identify children at risk for ASD around 18–24 months?
The M-CHAT-R/F (Modified Checklist for Autism in Toddlers, Revised with Follow-Up).
True or False — ASD prevalence is decreasing over time. Why or Why not?
it has increased, likely due to broader awareness and diagnostic criteria.
What sensory behaviors might indicate ASD in a toddler?
Hyper- or hypo-reactivity to sensory input (e.g., covering ears, fascination with lights).
What multidisciplinary management approach does the article recommend for individuals with ASD and PTEN mutations?
Genetic counseling, regular cancer screening (especially thyroid and breast), and ongoing neurodevelopmental monitoring.