Diagnostic Disparities

If a boy's X-chromosome is missing the PTCHD1 gene or other nearby DNA sequences, they will be at high risk of developing ASD or intellectual disability. Girls are different in that, even if they are missing one PTCHD1 gene, by nature they always carry a second X-chromosome, shielding them from ASD.

The first "test tube baby" was born in 1978. With advances in reproductive science, an estimated one percent of all American babies are now born each year through in vitro fertilization (IVF). But IVF and other assisted fertility treatments may be solving one problem by creating another, suggests new evidence from Tel Aviv University.

Infections during infancy or childhood do not seem to raise the risk of autism, new research finds. The study found that children who were admitted to the hospital for an infectious disease, either bacterial or viral, were more likely to receive a diagnosis of autism spectrum disorder. However, children admitted to the hospital for non-infectious diseases were also more likely to be diagnosed with autism than kids who were never hospitalized, the study found.

Children with autism whose social and communications skills regress around age 3 tend to have more severe autism than children who show signs of the neurodevelopmental disorder at younger ages, new research finds.

The American Psychiatric Association, with its release this week of proposed revisions to its authoritative Diagnostic and Statistical Manual of Mental Disorders, is recommending that Asperger’s be dropped. If this revision is adopted, the condition will be folded into the category of “autism spectrum disorder,” which will no longer contain any categories for distinct subtypes of autism like Asperger’s and “pervasive developmental disorder not otherwise specified” (a category for children with some traits of autism but not enough to warrant a diagnosis).

The change is welcome, because careful study of people with Asperger’s has demonstrated that the diagnosis is misleading and invalid, and there are clear benefits to understanding autism as one condition that runs along a spectrum.