Autism Research Review – January 2013

CC BY-SA by Egan Snow

CC BY-SA by Egan Snow

Autism-inducing variant genes discovered

A new research funded by The Autism Genetic Resource Exchange (AGRE) revealed on 14th Jan, 2013 the discovery of 25 CNVs or Copy Number Variations. These are duplicated extra or missing codes of DNA that are seen in few autistic patients. The CNVs are thought to be capable of increasing the risk of autism in the rare individual that they are present.

Using data of over 3000 ASD cases the team involving scientists from the University of Utah uncovered 25 genetic variants that increased the risk of autism by 2 fold in children. Hakonarson, director at the Centre for Applied Genomics, The Children’s Hospital of Philadelphia said that these genetic variants may turn out to be extremely valuable diagnostic or predictive markers. As corresponding author for the study, Hakonarson also said that the genetic variants might be used as a part of some clinical test to diagnose a child with ASD.

New family of potentially treatable proteins linked to autism discovered

On 28th Jan, a study published in The Journal of Cell Biology revealed the link between neural proteins MDGA1, MDGA2 and autism, schizophrenia. Ann Marie and team from University of British Columbia studied the MDGA’s functions.

Ann Marie found that MDGA1 failed to promote synaptic connections and on the contrary inhibited the protein neuroglin-2 from promoting synapse development. Paradoxically, MDGA1 neither had affinitive binding to or inhibitory function for neuroglin-1. Essentially, the results suggested that the mutations in MDGA proteins may cause disruption in the finely maintained balance between inhibitory and excitatory synapses of the human brain, explaining partially the reason of neuro-developmental disorders like autism.

The team now looks at MDGA proteins with a new vigour. The potential of MDGA1 as amenable to therapeutic interventions looks possible and this means that a new line of therapy for not just autism but epilepsy and schizophrenia might also be on the way in the future.

Children might ‘Outgrow Autism’: study by NIH reports

Shockingly pleasant, NIH revealed a study that not just clothes, some children might outgrow even autism! On 17th Jan, a study led by Dr. Deborah Fein from the University of Connecticut published that some children with a confirmed diagnosis of autism in childhood lost the tell-tale symptoms of the disorder as they got older.

In a first-of-its-kind series of tests, the report recruited 34 optimal children who were confirmed autistic at a very young age and were now leading lives identical to their non-autistic peers. The participants were compared with a control group of 44 high-optimal mainstream children and 34 typically developing children between the age of 8 and 21 years. The research team utilised standard observation and cognition tests clubbed with parental questionnaires to evaluate the children’s current status along the autism spectrum. Children with an optimal outcome were in mainstream educational classes with no special autistic care given to them. No signs of lack of social interaction, communication, language or facial recognition were seen anymore.

The study could not arrive at a percentage to predict the likelihood a child with pre-diagnosed ASD has of outgrowing the symptoms of autism. Intensive therapy at an early age is the key to optimal outcome, said Dr. Fein.