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Autism Genes Discovered; Help Shape Connections Among Brain Cells
Date:4/28/2009

ical roles in the development of neuronal connectivity within the central nervous system," said Hakonarson. "Finding genes that are biologically relevant to these neuronal systems increases our understanding of how autism originates."

The gene discoveries, added Hakonarson, converge with evidence from functional magnetic resonance imaging that children with ASDs may have reduced connectivity among neural cells, and with anatomy studies that have found abnormal development of the brain's frontal lobes in patients with autism.

"Many of the genes we identified concentrate their effects in brain regions that develop abnormally in autistic children," said Hakonarson. "Our current findings, when coupled with anatomical and imaging studies, may suggest that ASDs are a problem of neuronal disconnection."

His group's ongoing research, continued Hakonarson, focuses on investigating the exact mechanisms by which these genetic variations cause autistic disorders. "For instance, we expect to manipulate similar cell-adhesion genes in mice to see if the animals show altered social behaviors that may correspond to human behaviors." In addition, other genes remain to be discovered.

"Although we cannot immediately apply this research to clinical treatments, these findings increase our understanding of how autism spectrum disorders arise, and may in time foster the development of strategies for prevention and early treatment," said developmental pediatrician Susan E. Levy, M.D., a co-author of both studies who is the medical director of the Regional Autism Center and a member of the Center for Autism Research (CAR), both at Children's Hospital.

Support for both studies was provided by The Children's Hospital of Philadelphia, the National Institutes of Health, Autism Speaks, and many other sources, including the Margaret Q. Landenberger Foundation, the Cotswold Foundation, the Beatrice and Stanley A.
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SOURCE The Children's Hospital of Philadelphia
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