2012-05-16

Genetics of Autism - Where Is Research At?


For those if us who do not understand much, but have been keeping an eye on information about genetic studies, this very short summary of the results and conclusions of the study by Dr. Scott Myers and colleagues, to be presented at the 2012 International Meeting for Autism Research, IMFAR, in Toronto, Canada, will reiterate the severity of the challenges; causes, diagnoses, and consequently treatment. From puzzle to Rubik Cube, I'd say. Glad to be behaviorally trained and able to analyze and change contingencies while we wait for more discoveries. Thank you,
✫ scientists ✫ for keeping at it.

"Results:  All 26 (100%) of the recurrent CNVs examined have been associated with ASD, some more robustly than others.  The vast majority of these ASD-associated CNVs (21/26 = 81%) have also been reported to be associated with at least 2 of the 3 other phenotypes (Developmental Disability (DD) /Intellectual Disability ID), Schizofrenia (SZ), and Epilepsy (EP), and 9/26 (35%) have been reported to be associated with all 4 phenotypes.  Among the 6 single gene variants examined, 5/6 (83%) were associated with at least 2 of the 4 other phenotypes (DD/ID, SZ, EP, and Tourette Syndrome (TS)) in addition to ASD.  2/6 (33%) were associated with at least 3 of the 4 other phenotypes in addition to ASD, and one (17%) was associated with all 5 phenotypes. Conclusions:  Recurrent CNVs and mutations that cause autism also cause other neurodevelopmental disorders, including intellectual disability, schizophrenia, epilepsy, and Tourette syndrome. The substantial etiologic overlap among what have been defined clinically as distinct disorders raises questions about diagnostic classification systems and poses challenges and opportunities for future research. It is possible that identifying the mechanisms that underlie variable expressivity might lead to novel therapeutic interventions."


@ http://imfar.confex.com/imfar/2012/webprogram/Paper11765.html