e! Science News provides an overview of the study and interviews lead TSRI researcher Gavin Rumbaugh, PhD:
Scientists uncover secrets of how intellect and behavior emerge during childhood
Scientists from the Florida campus of The Scripps Research Institute (TSRI) have shown that a single protein plays an oversized role in intellectual and behavioral development. The scientists found that mutations in a single gene, which is known to cause intellectual disability and increase the risk of developing autism spectrum disorder, severely disrupts the organization of developing brain circuits during early childhood. This study helps explain how genetic mutations can cause profound cognitive and behavioral problems. The study was published in the Nov. 9, 2012, issue of the journal Cell.
The genetic mutations that cause developmental disorders, such as intellectual disability and autism spectrum disorder, commonly affect synapses, the junctions between two nerve cells that are part of the brain's complex electro-chemical signaling system. A substantial percentage of children with severe intellectual and behavioral impairments are believed to harbor single mutations in critical neurodevelopmental genes. Until this study, however, it was unclear precisely how pathogenic genetic mutations and synapse function were related to the failure to develop normal intellect.
"In this study, we did something no one else had done before," said Gavin Rumbaugh, a TSRI associate professor who led the new research. "Using an animal model, we looked at a mutation known to cause intellectual disability and showed for the first time a causative link between abnormal synapse maturation during brain development and life-long cognitive disruptions commonly seen in adults with a neurodevelopmental disorder."
The DSM5 committee members who have crafted this non evidence based new ASD will not be influenced by this recent study. I saw Dr. Susan Swedo speak twice at Toronto IMFAR 2012. She appeared more personally offended by criticism than interested in seriously addressing the merits of such criticism. The several studies pointing out exclusions at both the HF and LF ends of the autism spectrum under the DSM5 regime are simply dismissed on the basis that they are using old data, that is information used in diagnosing persons currently assessed with autism under the DSM-IV. The DSM5 team responded with a "mine's bigger than your's" study which was led by DSM5 team member Catherine Lord who had previously confessed to the NYT Amy Harmon that the objective of the new ASD was to target intellectually disabled for exclusion. Real objective stuff?
The DSM5 team has dug in its heels on the New ASD. It has been recoiling from criticism of possible exclusion of persons at the very high end of the autism spectrum. As always both the media and autism researchers (with the exception of John Matson) simply disregard both the DSM5 ASD language expressly targeting for exclusion the intellectually disabled and Dr. Lord's express confession that the exclusion is intentional. The DSM5 team paid no apparent attention to the La Malfa study or to the authors' conclusion recommending a new approach in the study of ID in order to elaborate a new integrated model for people with ID. The odds of the DSM5 team taking the TSRI study any more seriously are slim to none.