New Developments In Autism Research

Connie K. Ho for — Your Universe Online

According to the U.S. Center for Disease Control and Prevention (CDC), roughly 1 in 88 children have been diagnosed with an autism spectrum disorder (ASD). With these shocking statistics, more and more research has been conducted on the disorder. Two notable findings were recently announced by a group of researchers from University of North Carolina School of Medicine, the Mount Sinai School of Medicine, and the University of Cincinnati (UC).

To begin, researchers from the University of North Carolina School of Medicine and the Mount Sinai School of Medicine recently discovered that the parents or siblings of people diagnosed with schizophrenia or bipolar disorder have a higher risk of having ASD. The investigators looked at a case-control study that included population registers from Sweden and Israel, specifically examining the correlation between the three disorders. Two groups were in Sweden and another group was made up of military service recruits in Israel.

“The results were very consistent in large samples from several different countries and lead us to believe that autism and schizophrenia are more similar than we had thought,” explained Dr. Patrick F. Sullivan, a professor in the department of genetics and director of psychiatric genomics at UNC, in a prepared statement.

In particular, the scientists found that there was a three times higher chance for ASD in groups from Sweden as a result of the presence of schizophrenia in parents. Schizophrenia in siblings was also related to two and a half times higher chance for autism in the group of Swedes and 12 times greater risk for the group of Israeli military conscriptions. There were similar patterns of association in relation to parents who demonstrated bipolar disorder, but it was at a lesser magnitude.

“Our findings suggest that ASD, schizophrenia and bipolar disorder share etiologic risk factors,” noted the authors. “We suggest that future research could usefully attempt to discern risk factors common to these disorders.”

The team of researchers believes that these findings could impact current knowledge of ASD.

“These potentially shared etiologic risk factors could be genetic, or could also represent environmental factors. These findings are also important because if ASD, schizophrenia and bipolar disorder have some common causes, they may be more similar than we currently understand. This may change how researchers and clinicians think about these disorders,” commented Avi Reichenberg, a faculty member at the Seaver Autism Center and the Department of Psychiatry at Mount Sinai School of Medicine, in the statement.

In similar news, University of Cincinnati researchers and the Cincinnati Children´s Hospital Medical Center have made a breakthrough in their treatment of creatine transporter deficiency (CTD), another ASD.

CTD, which is associated with severe cognitive impairment, is caused by a mutation in the creatine transporter protein. The disorder causes deficiency in the brain´s energy metabolism and, due to its relationship to the X chromosome, can impact boys the most. As a result, mothers who may be carriers of the disorder can pass it on to their sons. For males who have CTD, they cannot function normally; effects related to the brain include developmental delay, mental retardation, seizures, and speech difficulties.

In 2000, UC researchers discovered CTD. In follow-up studies, the researchers at UC and the Cincinnati Children´s Hospital Medical Center found a method that could treat CTD with cyclocreatine, otherwise known as CincY. CincY is a creatine analogue that was originally created to assist in cancer treatments. The research on CTD and CincY was reported in the July 2 online edition of the Journal of Clinical Investigation.

“CincY successfully entered the brain and reversed the mental retardation-like symptoms in the mice, with benefits seen in nine weeks of treatment,” remarked lead author Joe Clark in a prepared statement. “Treated mice exhibited a profound improvement in cognitive abilities, including recognition of novel objects, spatial learning and memory.”

Based on its status as a repurposed drug, CincY has been through the U.S. Food and Drug Administration (FDA) approval process. The drug, taken orally as a pill or powder, is currently in development for commercialization. The development is under a partnership between UC and Lumos Pharma, a startup company based on UC technology.

“It has taken many years to get here and I am happy that our efforts have led to this translational effort to make a therapy available to those afflicted with CTD,” explained Clark, a professor of neurology at UC, in the statement. “We look forward with commitment and hope to the day when those patients will benefit from our work.”

Currently, CTD is known to affect about 50,000 boys in the United States and is thought to be the second-most common cause of X-linked mental retardation following the Fragile X syndrome.

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