Behavioral comparisons in autistic individuals from multiplex and singleton families.
Published
Journal Article
Autistic disorder (AD) is a complex neurodevelopmental disorder. The role of genetics in AD etiology is well established, and it is postulated that anywhere from 2 to 10 genes could be involved. As part of a larger study to identify these genetic effects we have ascertained a series of AD families: Sporadic (SP, 1 known AD case per family and no known history of AD) and multiplex (MP, > or = 2 cases per family). The underlying etiology of both family types is unknown. It is possible that MP families may constitute a unique subset of families in which the disease phenotype is more likely due to genetic factors. Clinical differences between the two family types could represent underlying genetic heterogeneity. We examined ADI-R data for 69 probands from MP families and 88 from SP families in order to compare and contrast the clinical phenotypes for each group as a function of verbal versus nonverbal status. Multivariate analysis controlling for covariates of age at examination, gender, and race (MANCOVA) revealed no differences between either the verbal or nonverbal MP and SP groups for the three ADI-R area scores: social interaction, communication, and restricted/repetitive interests or behaviors. These data failed to find clinical heterogeneity between MP and SP family types. This supports previous work that indicated that autism features are not useful as tools to index genetic heterogeneity. Thus, although there may be different underlying etiologic mechanisms in the SP and MP probands, there are no distinct behavioral patterns associated with probands from MP families versus SP families. These results suggests the possibility that common etiologic mechanisms, either genetic and/or environmental, could underlie all of AD.
Full Text
Duke Authors
Cited Authors
- Cuccaro, ML; Shao, Y; Bass, MP; Abramson, RK; Ravan, SA; Wright, HH; Wolpert, CM; Donnelly, SL; Pericak-Vance, MA
Published Date
- February 2003
Published In
Volume / Issue
- 33 / 1
Start / End Page
- 87 - 91
PubMed ID
- 12708583
Pubmed Central ID
- 12708583
International Standard Serial Number (ISSN)
- 0162-3257
Digital Object Identifier (DOI)
- 10.1023/a:1022286622534
Language
- eng
Conference Location
- United States