Current perspectives on Down syndrome: Selected medical and social issues

Individuals with Down syndrome (DS) have multiple malformations and have cognitive impairments due to the presence of extra genetic material from chromosome 21. With medical advances, along with improvements in overall care, the median age of death of individuals with DS has increased from 25 years old in 1983 to 1949 years old in 1997 [Yang et al., 2002]. This longer life expectancy is providing clinicians with a better understanding of the natural history and the emerging needs of the individual over the lifespan. Since the last Supplement of the American Journal of Medical Genetics entitled Trisomy 21 (DS) was published in 1990, there have been many advances in the field. The sequencing of human chromosome 21 has resulted in identification of more than 400 genes on its long arm. Although the genes have been sequenced, defining their roles, functions, and interactions with other genes and the environment will increase our knowledge of the complex phenotype. Understanding the role of genes involved in biochemical/cellular pathways that are relevant to cognition in people with DS will guide future research. To put this Seminars issue in historical prospective, it is necessary to review briefly the two interwoven strands that together constitute the recent history of DS: the Civil Rights movement for people with disabilities, in which advocacy for people with DS has played an important part, and advances in medical understanding. Table I presents Legislative and Social Milestones in the Civil Rights Movement for people with DS. Throughout most of history, persons with disabilities have been largely excluded from society, usually living in isolation with their families. Beginning in the 1920s and continuing until the 1960s, parents of children with DS were strongly encouraged by physicians and by society to ‘‘place’’ their children in institutions. This drive to institutionalize people with cognitive disabilities was a part of the Eugenics Movement. The Eugenics Movement had as its main premise that the ‘‘race’’ could be ‘‘improved’’ by preventing ‘‘unfit’’ individuals from ‘‘propagating.’’ It reached its culmination in Nazi Germany, with the systematic extermination of people with disabilities, including people with DS, beginning in 1939. AfterWorldWar II, the Nuremberg Trials of Nazi war criminals established in international jurisprudence, the legal principle that everyone in a society is only as safe as the most vulnerable member of the society, providing a legal precedent for protecting people with disabilities. By the 1960s, it was recognized that institutionalization was brutalizing for many people. Stedman and Eichorn [1964] compared institutionalized and homereared children with DS and demonstrated that home-reared children developed better. In the 1960s and 1970s, the Civil Rights movement for people with disabilities began and flourished. Institutions no longer accepted as many children with disabilities and many adults were ‘‘deinstitutionalized’’ (discharged from institutions). In 1973, the National Down Syndrome Congress (NDSC) was established, and then in 1979, the National Down Syndrome Society (NDSS) was established, both providing support, information, and advocacy for individuals with DS and their families [Cooley and Graham, 1991]. Legislation (PL 94–142) began the transformation of educational services for children with disabilities by rejecting the concept of educational Assistant Guest Editor. Blythe G. Crissman,M.S., CGC is a genetic counselor in the Department of Pediatrics at Duke University Medical Center. She serves as the primary genetic counselor and clinic coordinator of the Duke Comprehensive Down syndrome clinic, and is a clinical research coordinator for the Duke Down syndrome research team. GordonWorley, M.D. is a clinical Professor of Pediatrics and the Director of the Program in Developmental Disabilities at Duke University Medical Center. He has cared for children with Down syndrome in the Duke University Comprehensive Down syndrome clinic since its inception. His research interests pertain to the medical problems of children with disabilities. Nancy Roizen, M.D. is the Chief of the Department of Developmental and Rehabilitation Pediatrics at the Cleveland Clinic Children’s Hospital for Rehabilitation. Her interests include hearing loss and autism in children with Down syndrome. Guest Editor. Priya S. Kishnani, M.D. is an associate Professor of Pediatrics and the Director of Clinical Trials in the Division of Medical Genetics at Duke University Medical Center. Her primary focus has been the translation of laboratory science into the clinic arena, to advance clinical care. She has been the coDirector of the Duke Comprehensive Down syndrome clinic with Dr. Worley since 1995. *Correspondence to: Priya S. Kishnani, M.D., Pediatrics—Division of Medical Genetics, Duke University Medical Center, 237 Bell Bldg., Trent Drive, Durham, NC 27710. E-mail: kishn001@mc.duke.edu DOI 10.1002/ajmg.c.30099