Last reviewed: November 2017
Last updated: November  2017

Summary

Definition

History and exam

Key diagnostic factors

  • language delay or regression
  • verbal and nonverbal communication impairment
  • social impairment
  • repetitive, rigid, or stereotyped interests, behavior, or activities

Other diagnostic factors

  • placid or very irritable as a baby
  • feeding difficulties
  • unusual posturing
  • motor stereotypies
  • sensory interests
  • evidence of other neurodevelopmental disorder
  • macrocephaly

Risk factors

  • male gender
  • positive FHx
  • genetic variants
  • karyotype (chromosomal) abnormalities

Diagnostic investigations

1st investigations to order

  • ASD screening tests
  • Childhood Autism Rating Scale (CARS)
  • Modified Checklist for Autism in Toddlers (M-CHAT)
  • Childhood Autism Screening Test (CAST)
Full details

Investigations to consider

  • diagnostic questionnaires (e.g., Autism Diagnostic Interview-Revised [ADI-R]; Developmental, Dimensional, and Diagnostic Interview [3di]; Diagnostic Interview for Social and Communication Disorders [DISCO])
  • Autism Diagnostic Observational Schedule (ADOS)
  • skin examination with Wood light
  • fragile X and chromosome/microarray testing
  • EEG
  • MRI brain
  • audiology
  • specific testing for genetic disorders (e.g., MECP2 deletion)
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Clinical Senior Lecturer/Hon Consultant

Institute of Neuroscience

Newcastle University

Newcastle

UK

Disclosures

JP is an author of a number of references cited in this monograph.

Marc Woodbury-Smith

Associate Professor

Department of Psychiatry & Behavioural Neurosciences and Pediatrics

McMaster University

Hamilton

Ontario

Canada

Disclosures

MWS has received financial support from Bristol-Myers Squibb in connection with presentations at meetings. MWS is the co-author of references cited in this monograph.

Peer reviewers VIEW ALL

Senior Lecturer & Honorary Consultant

Department of Forensic and Neurodevelopmental Sciences

Institute of Psychiatry

De Crespigny Park

London

UK

Disclosures

MC declares that he has no competing interests.

Associate Clinical Professor of Psychiatry and Pediatrics

Vanderbilt Department of Psychiatry

Nashville

TN

Disclosures

KS declares that he has no competing interests.

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