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Autism in Down’s syndrome: a family history study
Author(s) -
Ghaziuddin M.
Publication year - 2000
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 - 10.1046/j.1365-2788.2000.00271.x
Subject(s) - autism , psychology , family history , comorbidity , etiology , developmental disorder , psychiatry , clinical psychology , medicine
Several recent reports have described the occurrence of autism in subjects with Down’s syndrome (DS). However, relatively little is known about the family history of these subjects, especially with reference to autism. In order to address this issue, the present author examined 11 subjects with DS and autism (DSM‐III‐R; nine males), and compared them with seven controls with DS but without autism (DSM‐III‐R; three males). Details about family psychiatric history were obtained from both groups with an emphasis on autism and related disorders. Subjects with both DS and autism had an excess of first‐degree relatives who met the description of the broader phenotype of autism. Seven (64%) of the subjects with autism had an affected parent as against one (14%) of the control group. Similarly, four out of 11 siblings (36%) in the DS with autism group showed features suggestive of the broader autistic phenotype compared to none in the control group. These findings suggest that, at least in some cases, autism‐specific genetic factors may be important even when autism occurs in the presence of known medical conditions. Further studies of the mechanism of comorbidity of autism with medical conditions may help clarify the aetiology of the disorder.

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