Autism Research: September 14, 2013 week in review

CC BY-SA by Egan Snow

CC BY-SA by Egan Snow

Intellectual disability in autism not inherited but may pile-up newer mutated genes

A new, yet unpublished research, presented at the Broad Institute Symposium on the Emerging Genetics and Neurobiology of Severe Mental Illness in Cambridge, has found that rare de novo (spontaneous) mutations tend to pile up in children with autism compared to controls. The twist is that these are found only in people who have an intellectual disability in autism. Mark Daly and Elise Robinson presented their findings which showed that intellectual disability tends to be a rare inheritance in autism. The team also calculated that almost 48 genes have significant mutations in the autism group compared to just 5 in the control group.

Autism related genetic regions discovered

Another study presented at the same symposium, lead by Hreinn Stefansson found that duplication of a genetic region termed 16p12.1, which is thought to be linked with autism also increases fertility. The reason behind this finding is unclear yet but poor fertility is associated with a low I.Q., the team said. The group from Iceland found other such genetic regions which are linked to poor verbal fluency, cognitive defects, etc. The team could not conduct detailed tests on the autism group because of the large number of participants but is looking for another way to study the autistic traits in their study group.

In autism, motor skills and socializing go hand-in-hand

A paper published by Megan MacDonald in the renowned Research in Autism Spectrum Disorders on 11th September found that toddlers and pre-school kids with autism having better motor development were better at socializing and communication too. Studying 233 kids between 14 and 49 months, she found that the children with better motor skills were also better at requesting things from their parents and in general, better at talking and communicating with other people. She finds a ray of hope in this association of the mental capabilities and physical skills that has emerged through the study.

‘Love hormone’ strikes positive notes again

This time, from the Stanford University School of Medicine, oxytocin or the love hormone, has made its effects felt in the field of autism again. Robert Malenka, senior author of the study along with lead author Gül Dölen, tracked down the hormone in mice brains. They found the nerve tracts that secrete the hormone and the results of blocking the receptors for oxytocin too i.e. reduced socializing. Their detailed study on oxytocin and neural processing can probably be extrapolated to humans too due to the immense similarity of anatomy. It raises hopes for future research in this highly sensitive field of molecular mechanisms which could lead to development of therapeutic drugs for those deprived of the reward mechanism.

 Camel milk potentially useful as antioxidant for ASDs

Camel milk has emerged as a potentially therapeutic agent for those on the autism spectrum. It was found to increase all antioxidants in a study lead by Laila Y and published in the journal Evidence based Complementary and Alternative Medicine this month. As oxidative stress has been shown to be a vital agent in worsening neurological disorders like autism, the study could be a first amidst larger future studies which go on to utilize camel milk as an antioxidant in ASD.