Abstract
Abstract Comprehensive medical research is optimally based on a clear understanding of the pathogenesis of disease. It follows that a research agenda designed to promote healthy aging in persons with genetic syndromes linked to intellectual disabilities is best based upon a clear understanding of biological events that have occurred at early stages of development. The pathogenesis of such genetic syndromes encompasses a number of concepts including: (1) the locus and form of the genetic abnormality, (2) the mode of inheritance, and (3) the relationship between the genetic abnormality and the resulting phenotypic abnormalities. Recent research has increased our knowledge about such disorders; however, much remains to be learned. Genetic, clinical, and epidemiological perspectives on several genetic intellectual/developmental disability syndromes, including fragile X syndrome, myotonic dystrophy, Rett syndrome, mitochondrial genome disorders, Down syndrome, Smith–Lemli–Opitz syndrome, and phenylketonuria, are described to demonstrate directions for future research to promote longevity and healthy aging in people with these disorders.
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