People with autism have a wide range of symptoms, with no two people sharing the exact type and severity of behaviors. Now a large-scale analysis of hundreds of patients and nearly 1000 genes has started to uncover how diversity among traits can be traced to differences in patients' genetic mutations. The study, conducted by researchers at Columbia University Medical Center, was published Dec. 22 in the journal Nature Neuroscience. Autism researchers have identified hundreds of genes that, when mutated, likely increase the risk of developing autism spectrum disorder (ASD). Much of the variability among people with ASD is thought to stem from the diversity of underlying genetic changes, including the specific genes mutated and the severity of the mutation. "If we can understand how different mutations lead to different features of ASD, we may be able to use patients' genetic profiles to develop accurate diagnostic and prognostic tools and perhaps personalize treatment," said senior author Dennis Vitkup, PhD, associate professor of systems biology and biomedical informatics at Columbia University's College of Physicians & Surgeons. To investigate the links between genetic mutations and autism traits, Dr. Vitkup and a team of Columbia graduate students (Jonathan Chang, Sarah R. Gilman, and Andrew … Continue reading →

Finding might explain why the disorder is never identical in patients, could improve diagnosis and treatment WebMD News from HealthDay By Robert Preidt HealthDay Reporter MONDAY, Dec. 22, 2014 (HealthDay News) -- Different types of gene mutations may play a role in the severity and type of autism, new research suggests. The findings could lead to improved diagnosis and treatments for the disorder, the researchers added. No two people with autism have the exact type and severity of behaviors, according to background information from the study. Investigators analyzed hundreds of autism patients and nearly 1,000 genes to determine how gene mutations influence autism symptoms. They found that more damaging genetic mutations usually result in more severe autism symptoms, that autism patients with little or no verbal skills often have mutations in genes that are more active in the brain, and that those with less severe autism symptoms were less likely to have mutations that completely shut down genes. The researchers also found that gene mutations play a role in gender differences in autism. While autism is far more common in males, females with autism are more likely to have severe symptoms. The genes that are mutated in females with autism … Continue reading →