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Blood markers associated with autism and mental retardation

ervices. This archive of newborn blood specimens is an incredible treasure, providing a tremendously valuable resource for scientific study of a wide range of developmental disabilities and birth defects.

Neural growth factors are important to the formation of the central nervous system during embryonic development. Previous research shows that many of these growth factors play a vital role in the production of new brain cells and the organization of those cells into distinct networks. The investigators hypothesize that an abnormal abundance of these proteins may disrupt the normal process of cell migration, differentiation, and programmed death during early nervous system development. Animal studies have shown that an early shortage of one of these proteins leads to microcephaly and other developmental problems.

The investigators speculate that a breakdown in the regulation of factors that influence early brain development is important in autism and mental retardation. Since these disorders cannot be clinically diagnosed until later in childhood, the identification of molecular markers could be helpful in the early diagnosis of the disorders and in the design of future clinical studies to test therapies. The researchers plan to continue their work to further elucidate the biological and genetic mechanisms that underlie the development of autism and other developmental disorders.

Autism is a pervasive developmental disorder that affects approximately 10 to 20 people in every 10,000 and affects males about four times more frequently than females. Symptoms of autism may surface in children around the age of 2. People with classical autism show three types of symptoms: impaired social interaction, problems with verbal and nonverbal communication, and unusual or severely limited activities and interests. People with autism may also show abnormal responses to sensory stimuli, such as touch, sounds, and sights. Twin studies suggest that autism has a
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Contact: Marcia Vital or Paul Girolami
301-496-5751
NIH/National Institute of Neurological Disorders and Stroke
24-Apr-2001


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