Autism Research: Sep 19, 2014 Week in Review

Research

Association between autism and Jacobsen syndrome discovered

In a rare new discovery, a study has linked together a rare genetic medical condition Jacobsen syndrome with autism. Researchers jointly from the San Diego State University and University of California have found that the rates of autism amongst children with the syndrome were much higher than the average population. The findings of the study led by Paul Grossfeld and Natacha Akshoomoff have been published in Genetics in Medicine this week. It is known that Jacobsen syndrome results from deletion of an arm of chromosome no.11. This could help give better insight into both autism and Jacobsen syndrome a their manifestations are very similar. Children with Jacobsen syndrome also face challenges with intellectual disability just like autism, showing that their association might give a breakthrough as regards the exact cause of autism as well.

Evidence supports birth height & weight good predictors of future mental health

Researchers from Yale University and the University of Copenhagen have produced strong evidence for the general belief that birth size is an indicator of future mental disorders. A team led by Dr. Boomsma analyzed 1.75 million child birth records from Denmark and followed up over 30 years of diagnosis for the children. They found shocking evidence that a larger baby had an increased risk for autism spectrum disorders and lowered the risk for ‘schizophrenia-spectrum disorders’. The findings of the study have been published in the journal Proceedings of the Royal Society, London B. This suggests that genome imprints i.e. different expressions of the mother’s and father’s genes in the baby, go a long way in defining outcomes for autism and other neurodevelopmental disorders. Predicting what gene will express what and how in a child is near to impossible despite all the research and gadgets we have today.

Spontaneous genetic mutation in brain gene linked to autism

The TBR1 is a vital brain gene whose malfunctioning due to mutation has been linked to children having severe symptoms of autism. A link was also found between an important language-processing protein i.e. FOXP2 and the TBR1 gene. Researchers from the Radbound University, Nijmegen Max Planck Institute for Psycholinguistics have published their findings from the study in the prestigious Nature Communications this week. The study led by Dr. Pelagia Deriziotis and team found that de novo or new and spontaneous genetic mutations affected the gene more profoundly than inherited ones leading to severe manifestations of autism.

Gene increasing dendritic spines and autism discovered

Researchers from University of North Caroline School of Medicine have found that a gene NrCam, if knocked out, lead to an abundance of dendritic spines which, earlier researchers have confirmed to lead to increase in the synapses in brain. Research has also shown that autism brains have more synapses. Putting two and two together scientists are now suggesting that the gene might help get to the root of autism and develop targeted therapies for it. The findings of the study that was led by Dr. Patricia Maness have been published in The Journal of Neuroscience this week.