Autism & Genetics Updates 2015

Researchers in autism have long attempted to discover the genetic factors in children. Those early efforts were total failures, but during the past year headway has been made. Current technology can spot newly arising gene mutations in families with only one child having autism. It turns out that a new picture of the genetics of autism is appearing. New mutations of genes and their variations, unrelated to the parents, affect neurologic development in the earliest weeks of prenatal brain growth. Others kick into gear after birth. Certain regions of the human genome are particularly prone to disruptions, with “hot spots” linked to many forms of autism. Subtypes of autism are associated with these mutations and begin to explain the mysteries as to why some cases have severe symptoms while others are more modest. In addition, it is not only the unexpected mutations, but a copying problem. When the cells divide and multiply, certain gaps appear in the sequence that should not be there. When extra copies of a gene occur or there is a gap in the sequence, the variation can predispose people to autism. While the research is growing, treatment methods are not. It is hoped that with better understanding of the neurology of autism, more effective treatments can be created. (Solving the Autism Puzzle, Stephen S. Hall, MIT Technology Review, July/August 2014)

During 2015, search continued for identification of genetic signatures to aid in early identification of those with autism. In recent studies, only male children, ages 1-4, were used. Those with autism were compared to typically developing toddlers. The procedure used was able to predict those with autism 75% of the time. This demonstrated that there are biomarkers with very good sensitivity for boys in general pediatric settings. Blood-based clinical tests can be refined and routinely implemented by the pediatrician. No similar testing has been created for girls. (Prediction of Autism by Translation and Immune/Inflammation Coexpressed Genes in Toddlers from Pediatric Community Practices, Tiziano Pramparo et al, JAMA Psychiatry, 3/4/15).