Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?
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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.
KeywordsAutism ASD 22q11.2 deletion syndrome Velocardiofacial syndrome
We thank the families who participated in our study and appreciate the efforts of Melissa Harada and Kristopher de Ga for their assistance. This study was funded by grants from the National Institutes of Health (R01042974), National Center for Advancing Translational Sciences (UL1 TR000002), Children’s Miracle Network, the Dempster Family Foundation, and the University Center for Excellence in Developmental Disabilities (90DD0670).
Conflict of interest
The authors declare that they have no conflict of interest related to this research study. Dr. Angkustsiri is involved in clinical trials in autism and fragile X syndrome for Roche, Curemark, Forest Pharmaceuticals, Seaside Therapeutics, and Novartis. Dr. Brahmbhatt receives grant funding from Shire. These authors have not taken any personal salary from any pharmaceutical company.
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