Down syndrome: Management
- Kathryn K Ostermaier, MD, FAAP
Kathryn K Ostermaier, MD, FAAP
- Sections of Developmental and Academic General Pediatrics
- Director of the Texas Children's Spina Bifida Clinic, the Texas Children's Down Syndrome Clinic, and the BTGH Pediatric Special Needs Clinic
- Section Editors
- Helen V Firth, DM, FRCP, DCH
Helen V Firth, DM, FRCP, DCH
- Section Editor — Genetics
- Consultant Clinical Geneticist
- Addenbrooke's Hospital, Cambridge, UK
- Jan E Drutz, MD
Jan E Drutz, MD
- Section Editor — General Pediatrics
- Professor of Pediatrics
- Baylor College of Medicine
Down syndrome (DS) is the most common chromosome abnormality among live born infants. It is the most frequent form of intellectual disability (mental retardation) caused by a microscopically demonstrable chromosomal aberration.
The Committee on Genetics of the American Academy of Pediatrics (AAP) has provided recommendations to assist clinicians in the care of children with DS . The recommendations for medical evaluation are summarized in Appendix 1 of this document. Management requires an organized approach to the initial and ongoing evaluation and monitoring for associated abnormalities and prevention of common disorders [2,3].
The management and life expectancy of children with DS is presented here. The epidemiology, clinical features, and diagnosis are discussed separately. (See "Down syndrome: Overview of prenatal screening" and "Congenital cytogenetic abnormalities", section on 'Trisomy 21 (Down syndrome)' and "Down syndrome: Clinical features and diagnosis".)
General issues related to management of adults with intellectual disability, and problems related to DS specifically, are discussed in detail separately. (See "Primary care of the adult with intellectual and developmental disabilities".)
Patients with Down syndrome (DS) should be monitored for disturbances of growth associated with other disorders, such as hypothyroidism or celiac disease, and for excessive weight gain.
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