In the not-too-distant future, we may be able to diagnose toddlers with autism using a simple clinical test — based on voice patterns, blood or even urine.
Diagnosing autism is an evolving science but a crucial first step to understanding the disorder.
Toddlers who abruptly lose language, social or other developmental skills are more likely to have severe autism a few years later compared with children who have consistent delays from an early age. That’s the conclusion of the largest study thus far of autism onset patterns, published in the Journal of Autism and Developmental Disorders.
Autism and intellectual disability often occur together, but in most cases that overlap is not genetic, according to a study of twin pairs published in the American Journal of Medical Genetics. Unraveling this link might help researchers pinpoint brain circuits involved in both conditions, and better understand the diversity of symptoms in the autism spectrum, experts say.
A region of the brain that controls language is more extensively curved in children with autism than in those with Asperger syndrome, according to a study published in the Journal of Child Neurology. The findings offer preliminary biological evidence that Asperger syndrome, a disorder on the autism spectrum, is distinct from high-functioning autism.
Individuals carrying an extra copy of the genetic region that’s missing in Williams syndrome — which causes mental retardation and a hyper-friendly personality — have language impairments and other autism-like social difficulties, according to a wave of new research on this duplication syndrome.
The mouse brain has more than 1,300 regions for which the copy from one parent is expressed more often than the one from the other parent, according to two studies published today in Science. These so-called imprinted genes have been proposed to cause some cases of autism, but the researchers say their findings do not support that theory.
A decade of research on the biology of autism, combined with a steady rise in diagnoses, has finally piqued the pharmaceutical industry’s interest in developing drugs for the disorder. Preliminary data from one small clinical trial already show positive results, and results from several others are expected early this summer.
People with autism harbor more copy number variants (CNVs) — deletions or duplications of large chunks of DNA — compared with controls, but only in the protein-coding regions of the genome, researchers reported Wednesday in Nature. The study also pinpointed more than 100 new risk genes for autism.
Chromosomal microarray analysis, which screens the entire genome for tiny blips in the sequence, should be the first genetic test performed when diagnosing autism, says a consortium of clinical geneticists. The recommendation comes on the heels of a study that found the test is three times more effective at spotting autism variants than are standard clinical methods.