Ordered-subset analysis of savant skills in autism for 15q11-q13
| Autor: | M. M. Menold, James M. Jaworski, Ruth K. Abramson, John R. Gilbert, Harry H. Wright, S. L. Donnelly, Deqiong Ma, Michael L. Cuccaro, Margaret A. Pericak-Vance, G. R. DeLong |
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| Rok vydání: | 2005 |
| Předmět: |
Subset Analysis
Adult Male Adolescent Genotype Genetic Linkage behavioral disciplines and activities Cellular and Molecular Neuroscience Genetic linkage medicine Humans Autistic Disorder Child Genetics (clinical) Genetics Linkage (software) Family Health Chromosomes Human Pair 15 Autism Diagnostic Interview Genetic heterogeneity Chromosome Mapping medicine.disease Developmental disorder Psychiatry and Mental health Child Preschool Chromosomal region Autism Female Lod Score Psychology Microsatellite Repeats |
| Zdroj: | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (1) |
| ISSN: | 1552-4841 |
| Popis: | Autism is a complex disorder characterized by genetic and phenotypic heterogeneity. Analysis of phenotypically homogeneous subtypes has been used to both confirm and narrow potential autism linkage regions such as the chromosomal region 15q11-q13. Increased evidence for linkage in this region had been found in a subgroup of 21 autism families (total families = 94) stratified based on a savant skill factor (SSF) from the Autism Diagnostic Interview, Revised (ADI-R). We examined the savant phenotypic finding in our sample of 91 multiplex autism families. Using two-point parametric analysis in stratification with a cutoff point of a savant skill score of 0.16, our families failed to demonstrate linkage to 15q11-q13. In addition, ordered subset analysis (OSA) using SSF as a covariate also failed to show evidence for linkage. Our findings do not support savant skills as an informative phenotypic subset for linkage in our sample. |
| Databáze: | OpenAIRE |
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