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A new set of findings on children with autism has found a possible link between genetic polymorphisms and autism.
The findings, published in the Journal of Genetic Counseling and Psychiatry, found that the genes were linked to the severity and severity of symptoms, while also providing a link between those and social functioning.
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Scientists, lead by Dr. Toni A. Schreiber-Sperling, director of Child and Adolescent Psychiatry at Stony Brook University, used a sample of 2,037 autistic children and youth, who each had three sets of identical parents and two non-identical siblings and lived in different geographic areas. Children were then assessed based on behaviors, social and communication skills, and interactions between children, their parents and other adults.
The children had varying levels of genetic variation across their genomes at various levels of autism severity, and the children and their families were also differentially characterized by their experiences with different types of health conditions.
The researchers found a significant genetic difference between those participants with autism and those with non-Autistics: People on average had more of the specific variants associated with autism that are involved with the ability to detect faces. They reported that it was not only those with a diagnosis of autism who were more likely to express the specific genes identified by the study, but also those with the most profound forms of autism.
While most people, including their relatives, have at least one copy of the gene for the autism variant called APOE 4A4, in the majority of cases the gene does not have the same expression in all chromosomes — they are differentially expressed in two versions. In people with autism, there are variants of the gene that are linked to these two versions.
“The findings of this research have important clinical implications and support the importance of understanding genetic variations that contribute to severe forms of autism,” Schreiber-Sperling said. “It also provides compelling evidence that the severity of autism may be linked not only to the genetic variants that contribute to the disorder, but also the environmental exposures that may contribute to the severity of autism.”
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