Autism Spectrum Disorder (ASD)

A collection of flashcards covering key concepts of Autism Spectrum Disorder based on lecture notes.

Autism Spectrum Disorder (ASD)

A broad range of developmental conditions characterized by social interaction deficits and repetitive behaviors.

Prevalence

The reported incidence of ASD is approximately 1 in 31 children (3.2%) aged 8 years in the US.

Epidemiology

The study of how often diseases occur in different groups of people and why.

Diagnosis of ASD

Involves developmental screening and diagnostic tools to identify social communication impairments and restricted repetitive behaviors.

MCHAT

Modified Checklist for Autism in Toddlers; a tool used for early detection of autism symptoms.

Comorbidity

Refers to the presence of one or more additional disorders co-occurring with a primary disorder.

Genetics of ASD

The study of genetic factors that contribute to the risk of developing autism spectrum disorder.

De novo mutations

Genetic alterations that are present for the first time in one family member as a result of mutation in a germ cell of one of the parents.

Copy Number Variation (CNV)

A type of structural variation in the genome that results in the cell having an abnormal number of copies of one or more sections of the DNA.

ABA therapy

Applied Behavioral Analysis therapy, a behavior management and communication approach used in treating ASD.

5 main mechanisms implicated in ASD

1. Synapse development and function

2. 2. Protein synthesis & growth regulation

3. 3. Serotonergic neurotransmission

4. 4. Oxytocin/vasopressin signaling

5. 5. Neuron-glia signaling.

Severity Levels in ASD

Levels indicating the degree of support needed for individuals with ASD based on social communication impairments and restrictive behaviors.

Sex Differences in ASD

ASD is reported to be 4 times more common in boys than girls.

Animal Models in ASD Research

Research studies using animal species (mostly rodents and nonhuman primates) to gain insights into autism mechanisms.

Biomarkers of ASD

Biological indicators of ASD include abnormal serotonin and oxytocin levels, immune cytokines, and increased head circumference.

Pharmacological Treatments for ASD

No drugs specifically treat the core symptoms of ASD, but some medications target associated symptoms like irritability or anxiety.

Clinical description of ASD

Clinical features include deficits in social interaction and communication, and the presence of repetitive behaviors.

Etiology of ASD

The cause of autism encompasses genetic, environmental, and possibly prenatal factors.

Two core deficits of ASD

Social interaction and communication deficits

Stereotypic behaviors

Genetics of ASD: Strong candidate genes point to synaptic dysfunction

NLGN, NRXN,SHANK, UBE3A ,FMR1 and MECP2 genes