Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?

Overview

Journal J Autism Dev Disord

Publisher Springer

Date 2013 Sep 19

PMID 24045981

Citations 35

Authors

Kathleen Angkustsiri

Beth Goodlin-Jones

Lesley Deprey

Khyati Brahmbhatt

Susan Harris

Tony J Simon

Affiliations

Soon will be listed here.

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.

Citing Articles

Driving Innovation to Support Pupils with SEND Through Co-Production in Education and Research: Participatory Action Research with 22q11.2 Deletion Syndrome Families in England.

Jayman M, Edmonds S, Gudbrandsen M Behav Sci (Basel). 2025; 15(1).

PMID: 39851826 PMC: 11761591. DOI: 10.3390/bs15010022.

Development of Speech and Communication in Polish Children with 22q11.2 Deletion Syndrome: A Cross-Sectional Study.

Mocko N, Rudzki M, Miodonska Z, Olesiak J, Jochymczyk-Wozniak K, Krecichwost M Brain Sci. 2025; 15(1).

PMID: 39851392 PMC: 11763655. DOI: 10.3390/brainsci15010024.

Neurodevelopmental disorders in children with cleft lip and palate: a systematic review.

Cook B, Van Bockstaele S, Crow S, Sainsbury D, Butterworth S, Filson S Eur Child Adolesc Psychiatry. 2024; .

PMID: 39724178 DOI: 10.1007/s00787-024-02636-y.

Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders.

Feller C, Ilen L, Eliez S, Schneider M J Neurodev Disord. 2024; 16(1):11.

PMID: 38500028 PMC: 11064408. DOI: 10.1186/s11689-024-09527-y.

Description of Neuropsychological Profile in Patients with 22q11 Syndrome.

Lorena J, Sandra P Genes (Basel). 2023; 14(7).

PMID: 37510252 PMC: 10379667. DOI: 10.3390/genes14071347.

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