Variable expression of the autism broader phenotype: Findings from extended pedigrees

A Pickles, E Starr, S Kazak, P Bolton, K Papanikolaou, A Bailey, R Goodman, M Rutter

Research output: Contribution to journalArticlepeer-review

219 Citations (Scopus)


Factors influencing the rate, form, and severity of phenotypic expression among relatives of autistic probands are examined. Family history data on 3095 first- and second-degree relatives and cousins from 149 families with a child with autism and 36 families with a child with Down syndrome are studied. The results provide further evidence of an increased risk among autism relatives for the broadly defined autism phenotype. Of proband characteristics, severity of autism and obstetric optimality were confirmed as being related to familial loading for probands with speech. There was little variation in loading among probands lacking speech. The type of phenotypic profile reported in relatives appeared little influenced by characteristics of the relative or the proband, except for variation by degree of relative, parental status of relative, and perhaps proband's birth optimality score. Phenotypic rates among parents suggested reduced fitness for the severest and more communication-related forms of expression but not for the more mild and social forms of expression. Patterns of expression within the families did not support a simple X-linked nor an imprinted X-linked mode of inheritance. The basis for sex differences in rates of expression is discussed.
Original languageEnglish
Pages (from-to)491 - 502
Number of pages12
JournalJournal of Child Psychology and Psychiatry
Issue number4
Publication statusPublished - May 2000


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