Autism Research: January 25, 2014 Week in Review

adn-icon-298x300Link between rare cancer neurofibromatosis and autism discovered

Almost a quarter of people afflicted with the rare cancer neurofibromatosis type 1 (NF1) are also diagnosed with autism according to a new study published in the journal Pediatrics. This rare familial disorder, of the family of RASopathies, enhances cancer-related signaling through the RAS protein that is crucial in cell growth and development. The team of researchers delivered a questionnaire to roughly 50% children of all 207 children affected by NF1 in Mancheter, UK. They found that almost 38 children scored above the cut-off score for autism, 48 scored lower and 29 were in the moderate range. An in-depth assessment showed that 47 children including 23 who had scored above the cut-off score responded positively to the analysis that diagnosis autism.  To sum it up, a whopping 45% children having neurofibromatosis showed some features of autism and almost 25% had a full diagnosis of autism. The findings of the study support the theory of RAS disruption playing a role in autism and are a push for all physicians to screen children diagnosed with NF1 for autism too.

 Potentially causative autism genes identified

 A new study spearheaded by Bru Cormand of University of Barcelona has identified new candidate genes that could help nail down the cause for autism in children. The study published in Molecular Psychiatry was the outcome of collaboration between neuro-scientific, statistical and genetic teams from University of Barcelona, Barcelona Science Park, Mutua de Terrassa University Hospital and Sant Joan de Deu University Hospital. Cormand affirmed that autism is almost 3-4 times higher in identical twins compared to non-identical twins proving importance of genetics in autism. The research is the first of its kind to study genetic mutations passed on by parents to children with a genomic point of view. The researchers identified almost 200 new, rare variants that are inherited by children adding 2 new genes to causes of autism. The more the number of variants inherited by children, the lower is the I.Q in autism, the scientists said. The study brings to notice the connection between heredity and autism and need for screening in children with autistic children in the family.

 Gaps discovered in autism diagnoses

 A new Australian study has highlighted the lack of a clear-cut and easy criterion to diagnose autism spectrum disorders. A gaping grey area here has lead to over and under diagnosis of autism, said the researchers from the Murdoch Children’s Institute & University of Melbourne. Lead researcher Katrina Williams said that the lack of a clear line that separates autism from non-autism in certain traits and behaviours is causing problems for pediatricians in diagnosing children who are not at the extremes of the spectrum. The increasing prevalence of the disorder is a worry because we don’t yet know if it’s due to an increased awareness or just broadened diagnostic criteria. The study puts forth an immediate need of specific criteria to identify a child with borderline autistic traits so that early intervention and immediate therapy can be initiated. Research has proven amply that earlier and rigorous interventions hold the key to leading a normal, independent life for children with autism.

 

 

 

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Dr. Rachita Narsaria, M.D. About Dr. Rachita Narsaria, M.D.

Dr. Rachita Narsaria is an physician with a passion for prose. Armed with an MD in Internal Medicine, she juggles between clinics and writing. When medicine gets overwhelming, poetry is her escape. Her maiden venture, Spellbound Inc., is a culmination of years of experience in creative writing.