A new wave of genetic tests for fragile X syndrome, the leading cause of inherited mental retardation and the most common genetic cause of autism, may make it possible to routinely screen pregnant women and newborns for the syndrome.
Spectrum: Autism Research News
Tag: genetic testing
For a few hundred dollars and a bit of your spit, you can have parts of your DNA analyzed. If you’re more ambitious, $20,000 — and a lot less than that a year from now — will buy you the sequence of your entire genome. But the real question is should you, and others like you, find out what secrets your genome holds?
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.
Individuals who carry a large and rare deletion on chromosome 16 that is associated with autism are likely to have developmental delays, be obese or both, according to two studies published last week in Nature.
Deletions or duplications of chromosomal segment 16p11.2 — previously reported as a key autism region — are seen in people with developmental delays and speech and behavioral problems, but not necessarily autism. That’s the finding from two large studies published last week of people carrying these rare genetic variations.
Variations linked to autism and schizophrenia crop up in people with a large variety of conditions, including bipolar disorder, seizures and obsessive-compulsive disorder, as well as in healthy people. This notion gained new support from unpublished data presented at the World Congress for Psychiatric Genetics in San Diego.