Autism Research: September 4, 2015 Week in Review

ResearchNew genetic tests might help make inroads in autism diagnosis and therapy

According to a new study published by the Journal of American Medical Association, two new technologies of genetic testing have been developed to help identify mutations linked to autism spectrum disorders. Two new methods called chromosomal microarray analysis and whole exome sequencing will help better identify genetic mutations linked with autism. The study led by Stephen Scherer at the Hospital for Sick Children, Toronto, also found that kids with particular physical anomalies had a higher risk of genetic mutations and could help identify which children would benefit the most from such advanced, state of the art technology. 258 children on the spectrum were analyzed to gauge the yield of molecular information on genetic mutations that contributed to features of autism. Based on the severity of physical aberrations, the children were classified into 3 groups: complex, equivocal and essential. The researchers concluded that with larger studies over varied populations, exact genetic aberrations could be identified and help arrive at a genetic diagnostic tool to detect autism well in advance.

Journal References:

  1. Judith H. Miles. Complex Autism Spectrum Disorders and Cutting-Edge Molecular Diagnostic Tests. JAMA, 2015; 314 (9): 879 DOI: 10.1001/jama.2015.9577
  2. Kristiina Tammimies, Christian R. Marshall, Dimitri J. Stavropoulos, Stephen W. Scherer, Bridget A. Fernandez. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. JAMA, 2015; 314 (9): 895 DOI: 10.1001/jama.2015.10078

Gender differences in autism, associated with brain structure and behavior too

A new study by the prestigious Stanford University School of Medicine has found that girls on the autism spectrum displayed much lesser restricted and repetitive behaviors compared to boys. In fact, the study found structural differences in the brain tissues of girls and boys that take a step forth in explaining these clinical differences of autism manifestations too. The study was published this week in the journal Molecular Autism and led by Kaustubh Supekar. Kaustubh along with Vinod Menon wanted to study which specific symptoms differed in the two sexes in autism and if grey matter patterns could explain these differences. The results could help physicians better diagnose and treat autism. The duo analyzed 800 children with high-functioning autism in US and found that boys outnumbered girls, 4 is to 1 on the high functioning aspect. Researchers found motor component to repetitive movements like hand flapping etc. for the first time giving evidence to back gender differences in autistic behaviors.

Journal reference: Supekar K and Menon V. Sex differences in structural organization of motor systems and their dissociable links with repetitive/restricted behaviors in children with autism Molecular Autism 2015, 6:50

Cognitive flexibility model throws light on autism

A new study published this week by the University of Miami throws light on how an often unrecognized, yet extremely essential skill, cognitive flexibility is important to navigate our way through life. Published this week in the journal Trends in Neurosciences, the study led by Lucina Uddin has proposed a theory of underlying neural mechanisms for this cognitive flexibility and how these could be improved upon to help persons with neurodevelopmental disorders like autism.

Journal reference: Lucina Uddin. Demystifying cognitive flexibility: Implications for clinical and developmental neuroscience. Trends in Neuroscience.


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