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Am J Psychiatry 1997; 154:185-190
Copyright © 1997 by American Psychiatric Association
Broader autism phenotype: evidence from a family history study of multiple-incidence autism families
J Piven, P Palmer, D Jacobi, D Childress and S Arndt
Department of Psychiatry, University of Iowa College of Medicine, Iowa City, USA. jpiven@blue.weeg.uiowa.edu
OBJECTIVE: Studies of families ascertained through a single autistic
proband suggest that the genetic liability for autism may be expressed in
nonautistic relatives in a phenotype that is milder but qualitatively
similar to the defining features of autism. The objective of this study was
to examine behaviors that may define this broader phenotype in relatives
ascertained through two autistic siblings. METHOD: The authors used a
semistructured family history interview to compare the rates of social and
communication deficits and stereotyped behaviors in relatives ascertained
through two autistic siblings (families with multiple-incidence autism; 25
families) with the rates in relatives of Down syndrome probands (30
families). RESULTS: Higher rates of social and communication deficits and
stereotyped behaviors were found in the relatives in the families with
multiple-incidence autism. CONCLUSIONS: These data suggest that further
studies should be undertaken to delineate the boundaries of the broader
autism phenotype and that this broader phenotype should be included in some
future genetic analyses of this disorder.
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