Publications by authors named "S E Folstein"

Article Synopsis
  • Rare copy-number variation (CNV) is a significant risk factor for autism spectrum disorders (ASDs), as shown by the analysis of 2,446 ASD-affected families, revealing higher rates of genic deletions and duplications in affected individuals compared to controls.
  • Affected individuals showed a notable increase in pathogenic CNVs linked to specific ASD and intellectual disability loci, with implications for various neurodevelopmental genes, including CHD2 and SETD5.
  • Additionally, females with ASD had a higher prevalence of potent CNVs and were overrepresented in categories associated with fragile X syndrome, highlighting potential gender-specific factors in CNV that influence ASD.
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While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk.

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Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants.

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In the conventional view, aging of the brain is associated with atrophy vascular abnormalities and loss of volume in hippocampus and amygdala. Cognitively, aging is associated with slowing of processing and memory loss. However, many studies of aging do not examine the cases to exclude demented people.

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