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Am J Med Genet A. 2016 Jul;170(7):1899-902. doi: 10.1002/ajmg.a.37674. Epub 2016 May 5.

Rapid clinical deterioration in an individual with Down syndrome.

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Tufts University School of Medicine, Boston, Massachusetts.
Down Syndrome Program, Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.
Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.


A small percentage of adolescents and young adults with Down syndrome experience a rapid and unexplained deterioration in cognitive, adaptive, and behavioral functioning. Currently, there is no standardized work-up available to evaluate these patients or treat them. Their decline typically involves intellectual deterioration, a loss of skills of daily living, and prominent behavioral changes. Certain cases follow significant life events such as completion of secondary school with friends who proceed on to college or employment beyond the individual with DS. Others develop this condition seemingly unprovoked. Increased attention in the medical community to clinical deterioration in adolescents and young adults with Down syndrome could provide a framework for improved diagnosis, evaluation, and treatment. This report presents a young adult male with Down syndrome who experienced severe and unexplained clinical deterioration, highlighting specific challenges in the systematic evaluation and treatment of these patients.


Down syndrome; catatonia; psychosis; regression

[Indexed for MEDLINE]

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