CHOP-led study suggests pathway common to autism, other disorders; hints at drugs to target overlapping illnesses

Children born with a DNA abnormality on chromosome 16 already linked to neurodevelopmental problems show measurable delays in processing sound and language, says a study team of radiologists and psychologists.

By strengthening the case that the deleted gene disrupts a key biological pathway, the research may lay the foundation for future medical treatments for specific subtypes of autism, along with cognitive and language disabilities.

Posted by Yale University

About 20% of younger siblings of children with Autism Spectrum Disorder (ASD) will develop the condition by age 3. A new study by Yale School of Medicine researchers has found that 57% of these younger siblings who later develop the condition already showed symptoms at age 18 months.

Published in the October Journal of the American Academy of Child & Adolescent Psychiatry, this is the first large-scale, multi-site study aimed at identifying specific social-communicative behaviors that distinguish infants with ASD from their typically and atypically developing high-risk peers as early as 18 months of age.

Discovery affects half of 1 percent of autism patients but could lead way for more genetic testing

In their study of 6,176 children with autism spectrum disorder, researchers found 15 had a CHD8 mutation and all these cases had similar characteristics in appearance and issues with sleep disturbance and gastrointestinal problems. Bernier and his team interviewed all 15 cases with CHD8 mutations. Bernier said this is the first time researchers have shown a definitive cause of autism to a genetic mutation.

The findings suggest that the development of a small therapeutic molecule—one that can cross the blood-brain barrier and block S-nitrosylation of MEF2 or in some other way increase MEF2 transcriptional activity—could promote new brain cell growth and protect existing cells in several neurodegenerative disorders.

A new study by researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) has identified a chemical “switch” that controls both the generation of new neurons from neural stem cells and the survival of existing nerve cells in the brain. The switch that shuts off the signals that promote neuron production and survival is in abundance in the brains of Alzheimer’s patients and stroke victims. The studysuggests that chemical switch, MEF2, may be a potential therapeutic target to protect against neuronal loss in a variety of neurodegenerative diseases, such as Alzheimer’s, Parkinson’s and autism.

Pregnant women who lived in close proximity to fields and farms where chemical pesticides were applied experienced a two-thirds increased risk of having a child with autism spectrum disorder or other developmental delay

The large, multisite California-based study examined associations between specific classes of pesticides, including organophosphates, pyrethroids and carbamates, applied during the study participants’ pregnancies and later diagnoses of autism and developmental delay in their offspring. “This study validates the results of earlier research that has reported associations between having a child with autism and prenatal exposure to agricultural chemicals in California,” said lead study author Janie F. Shelton, a UC Davis graduate student who now consults with the United Nations. “While we still must investigate whether certain sub-groups are more vulnerable to exposures to these compounds than others, the message is very clear: Women who are pregnant should take special care to avoid contact with agricultural chemicals whenever possible.”