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The Broad Autism Phenotype

Findings from an Epidemiological Survey

Institute of Psychiatry, London, UK N.Micali{at}iop.kcl.ac.uk

S. Chakrabarti

Child Development Centre, Stafford, UK

E. Fombonne

Montreal Children’s Hospital, Canada

This study aimed to determine if relatives of children with autism and less severe pervasive developmental disorders (PDDs) have higher rates of various components of the broad autistic phenotype. Psychiatric and medical disorders were investigated. Parents of children with PDDs were selected from an epidemiological survey and compared with parents of control children with non-autistic developmental problems. Rates of abnormalities and disorders were compared in relatives of 79 cases and 61 controls. Medical and autoimmune disorders in both groups were endorsed by few relatives. Specific developmental disorders were commoner in parents of controls. Depression and anxiety were significantly more prevalent in mothers of children with PDDs. Significantly more PDD children had at least one firstdegree relative with anxiety and one second-degree relative with OCD. PDDs were commoner in first-degree relatives. The implications of the findings for the definition of the broad phenotype of autism are discussed.

Key Words: autism • autoimmune disorders • family study • pervasive developmental disorders • psychiatric disorders

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