Autism unsurprised; diagnostic camouflage; Neanderthal legacy and more

The more pronounced participants’ autism features, the less likely they were to find an unexpected image surprising. Paradoxically, this low reactivity could mask a constant hum of sensory hyperarousal for people with autism. Researcher Rebecca Lawson of the Wellcome Trust Centre for Neuroimaging at University College London speculated in a statement that if “people with autism are more often expecting volatility, that could help explain their propensity to sensory overload, enhanced perceptual functioning and context insensitivity.”

The first study compared how well different genetic testing approaches identify sequence changes associated with early-life epilepsy. About one-third of people with autism will also have an epilepsy diagnosis. These investigators found the best performance with approaches such as whole-exome sequencing, which spells out the coding regions of DNA. Whole-exome sequencing yielded genetic diagnoses in 27.5 percent of the cases, compared with 17 percent with microarray tests, which identify large duplications or deletions of DNA. Microarray tests are a common choice for genetic testing in autism.

The second study used whole-exome sequencing to try to pin down diagnoses in children thought to have various conditions traceable to single genes. The researchers identified the causative gene variants in 52 percent of cases. In one-third of these cases, the variant had not been at the top of the list of diagnostic possibilities.

Joshua Gordon, committee chair and director of the National Institute of Mental Health, called the request “a reasonable and aggressive start … that we can spend wisely and efficiently,” Disability Scoop reported.