A case-control family history study of autism

J Child Psychol Psychiatry. 1994 Jul;35(5):877-900. doi: 10.1111/j.1469-7610.1994.tb02300.x.


Family history data on 99 autistic and 36 Down's syndrome probands are reported. They confirmed a raised familial loading for both autism and more broadly defined pervasive developmental disorders in siblings (2.9% and 2.9%, respectively, vs 0% in the Down's group) and also evidence for the familial aggregation of a lesser variant of autism, comprising more subtle communication/social impairments or stereotypic behaviours, but not mental retardation alone. Between 12.4 and 20.4% of the autism siblings and 1.6% and 3.2% of the Down's siblings exhibited this lesser variant, depending on the stringency of its definition. Amongst autistic probands with speech, various features of their disorder (increased number of autistic symptoms; reduced verbal and performance ability) as well as a history of obstetric complications, indexed an elevation in familial loading. No such association was seen in the probands without speech, even though familial loading for the lesser variant in this subgroup, was significantly higher than in the Down's controls. The findings suggest that the autism phenotype extends beyond autism as traditionally diagnosed; that aetiology involves several genes; that autism is genetically heterogeneous; and that obstetric abnormalities in autistic subjects may derive from abnormality in the foetus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Autistic Disorder / classification
  • Autistic Disorder / genetics*
  • Autistic Disorder / psychology
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Congenital Abnormalities / classification
  • Congenital Abnormalities / genetics
  • Congenital Abnormalities / psychology
  • Down Syndrome / classification
  • Down Syndrome / genetics*
  • Down Syndrome / psychology
  • Female
  • Humans
  • Intelligence / genetics
  • Male
  • Models, Genetic
  • Personality Assessment
  • Phenotype
  • Risk Factors