Author Interviews, Cognitive Issues, Genetic Research, JAMA / 13.12.2014
Parental Profiles Modify Genetic Predisposition To Autism
MedicalResearch.com Interview with:
David H. Ledbetter, Ph.D., FACMG
Executive Vice President &
Chief Scientific Officer, Geisinger Health System
Danville, PA 17822
Medical Research: What is the background for this study? What are the main findings?
Dr. Ledbetter: One of the biggest challenges in clinical care and research of children with autism and related neurodevelopment disorders is the remarkable clinical variability between individuals. This heterogeneity is reduced, but still significant, when considering individuals who have neurodevelopment disorders due to the identical genetic mutation such as deletion 16p11.2. We proposed that family background, genetic or environmental, may contribute to the variability in cognitive, behavioral and motor performance profiles of children with a sporadic (new) mutation in 16p11.2. Our study confirmed that a significant portion of the clinical variability seen in these children is due to the performance level of their parents and unaffected siblings and suggested that this may be due in part to genetic background effects as these traits are all known to have very high heritability.
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