This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.Autism, a severe neurodevelopmental disorder, occurs at a rate of approximately 1 in 200 children in the general population. Among children with Down syndrome, the rate is about 7%, a greater than 10 fold increase in risk. While the etiology of autism is unknown, there are clearly genetic contributions, and the increased risk in children with Down syndrome (Trisomy 21) may be related to having extra genes on the additional copy of chromosome 21. Among children with Down syndrome who have autism, 50% have a history of regression (loss of established communication skill) compared to 20 30% of children with autism without Down syndrome. In a study of families with two or more children with autism and regression (without Down syndrome) we observed significant evidence that chromosome 21 is linked to autism with regression. The objective of this study is to examine gene expression patterns in children with Down syndrome with and without autism. The patterns of genes that are expressed differently in the children with and without autism will identify candidate genes for susceptibility to autism with regression. These patterns are expected to identify candidate genes on chromosome 21 and candidate genes on other chromosomes that interact with genes on chromosome 21. These candidates can be further examined for contribution to autism with regression in children with autism with and withot Down syndrome.
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