Abstract

IN THE LAST 10 TO 20 YEARS, GENETIcists, neuroscientists, and others have made tantalizing discoveries about some basic features of mental retardation and developmental disabilities. For example, researchers have linked fragile X syndrome with excess or abnormal neuronal connections in the brain. They’ve found that adults who have velocardiofacial syndrome are very likely also to have psychosis. Another major finding is the difference in behavioral phenotypes in PraderWilli syndrome (PWS) and Angelman syndrome (AS) because of genetic imprinting. The same region on chromosome 15 is deleted in both disorders, but a deletion inherited from the father results in PWS while a deletion inherited from the mother causes AS. These findings and others are helping to build a foundation for improved diagnoses and medical care for people with mental retardation and developmental disabilities. But perhaps the greatest challenge for researchers and clinicians will be translating these findings into accurate diagnostic methods and appropriate treatment for people with mental retardation who also have mental illnesses. Experts say people with this dual diagnosis are among the most overlooked and ignored patient populations in the United States. “There has been a paucity of psychiatric research and a lack of framework in psychiatry to address emotional, behavioral, and psychiatric problems in these people,” says James Harris, MD, director of developmental neuropsychiatry at Johns Hopkins University School of Medicine. “The problems in access to mental health care are far more extensive and widespread than in terms of physical health.”

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