Gene Expresion in Ausitm Spectrum Disorders (ASD)

We postulated that specific differences in alternative splicing/exon usage in immune blood cells may be present in ASD boys, and this might differ in ASD boys with large total cerebral volumes (ASD_LTCV) versus ASD boys with normal total cerebral volumes (ASD_NTCV). Thus, we compared ASD and ASD sub-groups related to total cerebral volume to typically developing (TD) controls. Blood from young boys with ASD and TD was collected, and the extracted RNA was interrogated on Affymetrix GeneChip ® Human Exon 1.0 ST arrays. In adition, Total Cerebral Volume (TCV), measured by MRI was considered as a subphenotype. 30 boys with ASD (20 with normal TCV and 10 with large TCV) and 20 matched typically developing controls were assayed.