Please cite this article as follows: Szatmari P, Mérette C, Emond C, Zwaigenbaum L, Jones MB, Maziade M, Roy M-A, Palmour R. 2007. Decomposing the Autism Phenotype Into Familial Dimensions. Am J Med Genet Part B 147B:3–9.
Decomposing the autism phenotype into familial dimensions†
Article first published online: 22 MAY 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 147B, Issue 1, pages 3–9, 5 January 2008
How to Cite
Szatmari, P., Mérette, C., Emond, C., Zwaigenbaum, L., Jones, M. B., Maziade, M., Roy, M.-A. and Palmour, R. (2008), Decomposing the autism phenotype into familial dimensions. Am. J. Med. Genet., 147B: 3–9. doi: 10.1002/ajmg.b.30561
- Issue published online: 14 DEC 2007
- Article first published online: 22 MAY 2007
- Manuscript Accepted: 2 APR 2007
- Manuscript Received: 22 MAR 2006
- Canadian Institutes of Health Research
- sibpairs familiality
The objective of this article is to decompose the level of functioning phenotype in autism to see if it can be conceptualized as two simpler, but still familial, dimensional phenotypes of language and non-verbal IQ. We assembled 80 sibpairs with either autism, Asperger syndrome or atypical autism. To see whether the familial correlation on language scores was accounted for by the familial correlation on non-verbal IQ, residual language scores were calculated for each member of the sibpair based on a multiple regression equation using their IQ score as an explanatory or independent variable and controlling for the age and gender of the affected individual. These residual scores were then used to calculate intraclass correlations between affected sibs. This process was repeated using IQ as the dependent variable and language as a covariate. Within affected individuals there was a strong relation between non-verbal IQ (as measured by the Leiter performance scale) and language (as measured by the Vineland Communication Scale). In addition, there was familial correlation between sibs on both measures. Evidence of familial aggregation on both non-verbal IQ and language remained even after partialling out the effect of the covariates by regression analysis and by generalized estimating equation. These findings suggest that non-verbal IQ and language in PDD may arise from independent genetic mechanisms. The implications of this finding for linkage analysis and for identifying genetically informative phenotypes are discussed. © 2007 Wiley-Liss, Inc.