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Updated: Aug 18, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Autism, affective and other psychiatric disorders: patterns of familial aggregation
P F Bolton1, A Pickles, M Murphy
1MRC Child Psychiatry Unit, Institute of Psychiatry, London.
Background:
The liability to autism confers a risk for a range of more subtle autistic-like impairments, but it remains unclear whether it also confers a risk for other psychiatric disturbances.
Methods:
To investigate this, we studied the pattern of familial aggregation of psychiatric disorders in relatives of 99 autistic and 36 Down's probands, using family history and direct interview measures.
Results:
Family history data showed that motor tics, obsessive-compulsive (OCD) and affective disorders were significantly more common in relatives of autistic probands and that individuals with OCD were more likely to exhibit autistic-like social and communication impairments. Direct interview data confirmed the increased rate of affective disorders (especially major depressive disorder) in the first-degree relatives. There was no evidence to indicate significant co-morbidity between affective disorders and the broadly defined phenotype of autism. Moreover, the characteristics of the probands' and the relatives' that were associated with the liability to familiarity of the broader phenotype of autism differed from those that predicted the liability to the familiarity of affective disorders. Examination of the onset of affective disorders suggested that the increased risk was not confined to the period following the birth of the child with autism.
Conclusions:
Overall, the results indicated that OCD, but not affective disorders, may index an underlying liability to autism. They also indicated that the increased risk of affective disorders was not solely the consequence of the stress of raising a child with autism and that further research will be required to clarify the mechanisms involved.
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