Social impairments in chromosome 22q11.2 deletion syndrome (22q11.2DS): autism spectrum disorder or a different endophenotype?

Abstract

High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation measure (Autism Diagnostic Observation Schedule) and suggests that ASD is not as common as previously reported in 22q11.2DS. Differences in methodology, along with comorbid conditions such as anxiety, likely contribute to false elevations in ASD prevalence and information from multiple sources should be included in the evaluation of ASD.

• Authors: Kathleen Angkustsiri, Beth Goodlin-Jones, Lesley Deprey, Khyati Brahmbhatt, Susan Harris, Tony J Simon
• Journal: Journal of autism and developmental disorders (J Autism Dev Disord) Vol. 44 Issue 4 Pg. 739-46 (Apr 2014) ISSN: 1573-3432 [Electronic] United States
• PMID: 24045981 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Topics

• Adolescent
• Child
• Child Development Disorders, Pervasive (genetics, psychology)
• Communication
• DiGeorge Syndrome (genetics, psychology)
• Endophenotypes
• Female
• Humans
• Male
• Parents
• Social Behavior
• Surveys and Questionnaires