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.