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Study Suggests Autism Due to De Novo Mutations Exhibits Greater Reduction in Cognitive Function and Motor Skills than Autism Due to Inherited Factors.

M2 PHARMA-February 14, 2018-Study Suggests Autism Due to De Novo Mutations Exhibits Greater Reduction in Cognitive Function and Motor Skills than Autism Due to Inherited Factors

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- A new Cold Spring Harbor, New York-based non-profit research organization Cold Spring Harbor Laboratories study of genetic factors involved in causing autism spectrum disorders (ASD) draws fresh attention to the impact these illnesses have on motor skills, and more broadly on cognitive function, researchers at the lab said.

"Diminished motor skills appear to be an almost universal property of children with autism," says Professor Michael Wigler, one of three researchers who led the team. Wigler adds that careful inference from the data suggests to him that the genetic factors causing ASD broadly diminish the brain's cognitive functions.

Genetic factors increasingly becoming known are of two types: inherited mutations, and de novo mutations - changes to DNA that don't appear in the genetic makeup of either parent and are new in the child.

Damaging de novo mutations correlate with lower non-verbal IQ. The new study finds that diminished motor skills also correlate significantly with de novo mutations in ASD.

The researchers find that the defining core behavioral components of ASD -- impaired social skills and communication -- do not correlate with the presence or severity of de novo mutations, and believe that children who have autism as a consequence of inherited factors have less general cognitive damage than those with severe de novo mutations.

This study was based on DNA sequence and deep phenotypic data from the Simons Simplex Collection, a set of 2,760 families that have a single child affected by ASD.

Cold Spring Harbor Laboratory is a private, not-for-profit laboratory that employs 1,100 people, including 600 scientists, students and technicians. Its meetings and courses program host more than 12,000 scientists from around the world each year on its campuses in Long Island, NY and Suzhou, China.

The education arm also includes an academic publishing house, a graduate school, and programs for middle and high school students and teachers.

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Publication:M2 Pharma
Date:Feb 14, 2018
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