Office for People With Developmental Disabilities

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Major Findings

07/03/12

Breakthroughs made at the Institute for Basic Research in Developmental Disabilities include:

Autism —Scientists at IBR have developed an important new rating scale called the Pervasive Developmental Disorder Behavior Inventory (PDD-BI) to assist in the assessment of children 1.5 to 12 years of age who have been diagnosed with autism or a PDD. The PDD-BI is now being used widely in 500 clinical, educational, and research settings to assist in diagnosis and treatment recommendations, and to assess the effectiveness of treatments. The National Institutes of Health is using this instrument in its clinical drug trials.

Phenylketonuria (PKU)—IBR’s first Director, Dr. George A. Jervis, discovered the genetic defect that leads to PKU, a cause of severe intellectual disability. This finding led to the development of a special diet that prevents intellectual disability in individuals who have PKU and of newborn screening programs now used universally to detect PKU.

Fragile X syndrome—IBR scientists first developed prenatal screening tests for this syndrome, the most common cause of intellectual disability and the most common known genetic cause of autism. They have pioneered the development of new, faster, less costly methods for screening and diagnosis of fragile X mutations, including prenatal testing. The research group led by current IBR Director Dr. Ted Brown was the first to demonstrate the significant association of fragile X syndrome with autism.

Taurine—IBR researchers discovered that taurine, an amino acid present in human milk but not in cow’s milk, is essential for normal brain development. Now, all government-approved infant formulas contain taurine.

Down syndrome (DS)— IBR clinicians and researchers identified the neuropathological changes that are responsible for the developmental functional deficits and neuropathology that are associated with accelerated aging and early-onset Alzheimer disease in individuals with DS.

Batten disease—IBR scientists developed the first noninvasive test for this group of rare genetic, neurodegenerative disorders.