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Is there an increased prevalence of autistic spectrum disorders in people with 22q11 Deletion Syndrome?
Author(s) -
Murphy K. C.,
Sundram F.
Publication year - 2008
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1111/j.1365-2788.2008.01120_4.x
Subject(s) - deletion syndrome , autistic spectrum , schizophrenia (object oriented programming) , autism , autism spectrum disorder , schizophrenia spectrum , medicine , heart defect , pediatrics , phenotype , psychosis , psychology , psychiatry , clinical psychology , genetics , heart disease , biology , gene
22q11 Deletion Syndrome (22q11DS) is a relatively common interstitial deletion disorder with a minimum prevalence of approximately 1:5000 live births. Although considerable phenotypic variability occurs, common clinical features include a typical dysmorphology, cleft palate, congenital heart defects and a characteristic behavioural phenotype. While much of the literature has focussed on the well documented association between 22q11DS and schizophrenia, there is now increasing attention on the prevalence of autistic spectrum disorders (ASD) in 22q11DS. The current evidence implicating ASD in 22q11DS and the implications for the clinical management of affected individuals will be discussed.