Academic journal article Science Scope

Autism Leads

Academic journal article Science Scope

Autism Leads

Article excerpt


As scientists inch closer to unraveling autism's causes, this perplexing developmental condition increasingly shows its diverse roots. Consider two new genetic investigations.

One finds that spontaneous alterations to a tiny stretch of chromosome 16 contribute to about 1% of childhood autism cases. Either a deletion or a duplication of this DNA section raises a child's susceptibility to autism and related disorders, report geneticist Mark J. Daly of Massachusetts General Hospital in Boston and his colleagues.

The researchers plan to determine how tweaks to the DNA segment, which contains about 25 genes, promote autism. Their findings appear online and in an upcoming The New England Journal of Medicine.

The group of developmental disorders that includes autism affects as many as 1 in 150 children by age 3.

Daly's team used novel DNA-screening techniques to identify variations in the number of copies of each gene in the genomes of members of 751 families. Each family included two or more children diagnosed with autism or a related disorder, for a total of 1,441 affected youngsters.

Five individuals with autism displayed deletions of the key chromosome 16 segment. No such deletions appeared in their parents, leading the researchers to propose that these DNA alterations occurred during genetic recombination at or shortly after fertilization. …

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