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APA to drop “Asperger’s syndrome” from its diagnostic manual

The American Psychiatric Association will publish a new diagnostic manual in May 2013 and this edition will contain the APA's first major rewrites in 20 years according to the Associated Press. A group of psychiatric board trustees met Saturday outside of Washington, DC to approve the changes.

Perhaps the most notable change: the terminology "Asperger's disorder" will no longer be included. The revised manual will instead include the new term "autism spectrum disorder." According to the AP, this terminology is already seen in the field; what had been recognized as Asperger's will be incorporated under this umbrella diagnosis. Autism spectrum disorder will cover a range of individuals, from mild forms to kids with severe autism who often don't talk or interact with others.

Dr. David Kupfer, chair of the task force in charge of manual revisions and a psychiatry professor at the University of Pittsburgh, told the AP the aim was of the revisions was not to change the number of diagnosed mental illnesses. Rather, he says, the revisions should ensure affected children and adults receive a more accurate diagnosis and then more appropriate treatment.

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New autism studies find new mutations, many genes behind the disorder

Autism clearly has a genetic component, since if one half of a set of identical twins suffers from the disorder, the other generally does as well. But there are also a high number of cases where it seems to appear spontaneously, with affected children being born in families with no history of problems.

In recent years, new molecular tools like DNA chips have allowed researchers to look at these sporadic cases in more detail. The results have suggested that spontaneous mutations may play a large role in causing the disease. But these studies were limited to looking at large changes, the loss or duplication of huge regions of the genome. Technology has marched on, however, and DNA sequencing has reached the point where we're now able to look for small individual changes in the genomes of families with an autistic member. These new studies reinforce the role of spontaneous mutations, but suggest that up to a thousand genes may be behind autistic behavior.

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Researchers study autism by making stem cells from autistic patients

Autism, like other complex neuronal disorders, is usually attributable to the interaction of multiple genetic and environmental factors that have been extremely difficult to tease apart. People with Timothy syndrome suffer from hypoglycemia, cardiac arrhythmia, and global developmental delay; more than 60 percent of them also have an autism spectrum disorder (ASD). Researchers in California and Japan recently generated stem cells from people with Timothy syndrome and began differentiating them into neurons in an attempt to gain further insights into autism. Their results are published in Nature Medicine.

Timothy syndrome is caused by a genetic mutation that changes one amino acid in a calcium channel expressed in the brain—calcium influx through these channels is essential for neuronal processes. It is not yet known how the mutation that causes Timothy syndrome disrupts normal cellular functioning or how it leads to psychiatric symptoms. Timothy syndrome thus provides a good system for examining how a specific gene contributes to brain development. 

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