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

Kathleen Angkustsiri, Beth Goodlin-Jones, Lesley Deprey, Khyati Brahmbhatt, Susan Harris, Tony J Simon

Research output: Contribution to journalArticle

41 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)739-746
Number of pages8
JournalJournal of Autism and Developmental Disorders
Volume44
Issue number4
DOIs
StatePublished - 2014

Fingerprint

Endophenotypes
DiGeorge Syndrome
Chromosome Deletion
Observation
Autistic Disorder
Appointments and Schedules
Anxiety
History
Communication
Autism Spectrum Disorder

Keywords

  • 22q11.2 deletion syndrome
  • ASD
  • Autism
  • Velocardiofacial syndrome

ASJC Scopus subject areas

  • Developmental and Educational Psychology

Cite this

Social impairments in chromosome 22q11.2 deletion syndrome (22q11.2DS) : Autism spectrum disorder or a different endophenotype? / Angkustsiri, Kathleen; Goodlin-Jones, Beth; Deprey, Lesley; Brahmbhatt, Khyati; Harris, Susan; Simon, Tony J.

In: Journal of Autism and Developmental Disorders, Vol. 44, No. 4, 2014, p. 739-746.

Research output: Contribution to journalArticle

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