Chapter 8 Multiple choice questions

What are the diagnostic features of autism? Select all correct answers.

Failure to grow

Restricted, repetitive behaviors and interests

Deficits in social reciprocity

Presence of a developmental language disorder

How heritable is autism? Select correct answer.

It is not a heritable disorder

10% heritable

50% heritable

Between 60% and 90% heritable

Why do psychiatrists and psychologists use the term autism spectrum disorder (ASD)? Select all correct answers.

There are differences in the presentation and severity of the symptoms of autism

Autism is heterogeneous, arising from different causes

Autistic traits are present in the general population, not just in those diagnosed with ASD

Autistic-like features are present in the first degree relatives of children with autism

What do we know about the epidemiology of ASD? Select all correct answers.

About four times as many boys are diagnosed with ASD as girls

ASD is found in all ethnic groups at about the same prevalence

About one in five children have ASD

When they grow up, children with ASD are more likely than those without ASD to develop schizophrenia

What is the role of DNA copy number variation in the etiology of ASD? Select all correct answers.

Some CNVs always cause autism

6-7% of cases of ASD can be attributed to CNVs

Analysis of CNVs revealed that genetic causes of autism could arise de novo, so that cases previously attributed to environmental insults might be due to a DNA rearrangement

CNVs explain the association between autism and epilepsy

What is the role of coding regions of the genome in the etiology of ASD? Select all correct answers.

Inherited exonic mutations are more common in ASD than controls

De novo exonic mutations are more common in ASD than controls

Deleterious mutations in cases of ASD are always causative of the condition

A mutational excess in about 20% of genes has been estimated to contribute to ASD etiology

What significance threshold should be applied to determine whether a gene has been identified as a cause of autism? Select correct answer.

P < 0.05

P < 5 X10^-8

P < 1 X 10^-5

P < 1.7 X10^-6

What types of genetic abnormality can cause ASD? Select all correct answers.

Chromosomal inversions

Somatic mosaicism

Large insertions and deletions of chromosomal material

Disruption of micro-exons

What is the single most important type of genetic contribution to the etiology of ASD? Select correct answer.

CNVs

De novo mutations

Polygenic effects

Somatic mosaicism

How has our understanding of the genetics of ASD helped in the search for therapy? Select correct answer.

Genetic analysis hasn't helped at all in finding cures for ASD

Genetic analysis has identified cellular and molecular pathways that are drug targets

It has shown that genetic causes of ASD are reversible

Genetic analysis has led to the development of mechanism–based therapy

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