Autism Beyond the Checklist: Phenocopies, Diagnostic Overshadowing, and the Clinical Workup

Abstract excerpt

<p>Although the DSM diagnosis of autism spectrum disorder can be quite reliable, not all cases of autism are due to the polygenic and largely unresolved genetic architecture that characterizes the majority of idiopathic cases. The problem is that meeting diagnostic criteria, by itself, may tell the clinician remarkably little about why the child presents this way, what trajectory to expect, what comorbidities to b...

Topics

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• Autism Spectrum Disorder
• Child
• Child Development Disorders, Pervasive
• DNA Copy Number Variations
• Fragile X Mental Retardation Protein
• Genetic Association Studies
• Genetic Predisposition to Disease
• Risk Factors

Identifiers and source

Literature Corpus work

8e76e650-9bbe-57d9-a335-59df37b255c0

DOI

10.31234/osf.io/5frp4_v2