Down syndrome: Management
- Kathryn K Ostermaier, MD, FAAP
Kathryn K Ostermaier, MD, FAAP
- Associate Professor of Pediatrics
- Baylor College of Medicine
- Director of the Texas Children's Spina Bifida Clinic and the Texas Children's Down Syndrome 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.
- Bull MJ, Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 2011; 128:393.
- Roizen NJ, Patterson D. Down's syndrome. Lancet 2003; 361:1281.
- Weijerman ME, de Winter JP. Clinical practice. The care of children with Down syndrome. Eur J Pediatr 2010; 169:1445.
- Cronk C, Crocker AC, Pueschel SM, et al. Growth charts for children with Down syndrome: 1 month to 18 years of age. Pediatrics 1988; 81:102.
- Palmer CG, Cronk C, Pueschel SM, et al. Head circumference of children with Down syndrome (0-36 months). Am J Med Genet 1992; 42:61.
- Zemel BS, Pipan M, Stallings VA, et al. Growth Charts for Children With Down Syndrome in the United States. Pediatrics 2015; 136:e1204.
- Styles ME, Cole TJ, Dennis J, Preece MA. New cross sectional stature, weight, and head circumference references for Down's syndrome in the UK and Republic of Ireland. Arch Dis Child 2002; 87:104.
- Piro E, Pennino C, Cammarata M, et al. Growth charts of Down syndrome in Sicily: evaluation of 382 children 0-14 years of age. Am J Med Genet Suppl 1990; 7:66.
- Cremers MJ, van der Tweel I, Boersma B, et al. Growth curves of Dutch children with Down's syndrome. J Intellect Disabil Res 1996; 40 ( Pt 5):412.
- Myrelid A, Gustafsson J, Ollars B, Annerén G. Growth charts for Down's syndrome from birth to 18 years of age. Arch Dis Child 2002; 87:97.
- Van Gameren-Oosterom HB, Van Dommelen P, Oudesluys-Murphy AM, et al. Healthy growth in children with Down syndrome. PLoS One 2012; 7:e31079.
- Hatch-Stein JA, Zemel BS, Prasad D, et al. Body Composition and BMI Growth Charts in Children With Down Syndrome. Pediatrics 2016; 138.
- Luke A, Sutton M, Schoeller DA, Roizen NJ. Nutrient intake and obesity in prepubescent children with Down syndrome. J Am Diet Assoc 1996; 96:1262.
- Sepúlveda D, Allison DB, Gomez JE, et al. Low spinal and pelvic bone mineral density among individuals with Down syndrome. Am J Ment Retard 1995; 100:109.
- Angelopoulou N, Souftas V, Sakadamis A, Mandroukas K. Bone mineral density in adults with Down's syndrome. Eur Radiol 1999; 9:648.
- Fudge JC Jr, Li S, Jaggers J, et al. Congenital heart surgery outcomes in Down syndrome: analysis of a national clinical database. Pediatrics 2010; 126:315.
- Erlichman I, Mimouni FB, Erlichman M, Schimmel MS. Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome. J Pediatr 2016; 173:165.
- Posner EB, Colver AF. Thyroid dysfunction in Down's syndrome: relation to age and thyroid autoimmunity. Arch Dis Child 1999; 81:283.
- Gibson PA, Newton RW, Selby K, et al. Longitudinal study of thyroid function in Down's syndrome in the first two decades. Arch Dis Child 2005; 90:574.
- Van Vliet G. How often should we screen children with Down's syndrome for hypothyroidism? Arch Dis Child 2005; 90:557.
- McGowan S, Jones J, Brown A, et al. Capillary TSH screening programme for Down's syndrome in Scotland, 1997-2009. Arch Dis Child 2011; 96:1113.
- Massey GV, Zipursky A, Chang MN, et al. A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children's Oncology Group (COG) study POG-9481. Blood 2006; 107:4606.
- Hennequin M, Faulks D, Veyrune JL, Bourdiol P. Significance of oral health in persons with Down syndrome: a literature review. Dev Med Child Neurol 1999; 41:275.
- Barr-Agholme M, Dahllöf G, Linder L, Modéer T. Actinobacillus actinomycetemcomitans, Capnocytophaga and Porphyromonas gingivalis in subgingival plaque of adolescents with Down's syndrome. Oral Microbiol Immunol 1992; 7:244.
- Kusters MA, Verstegen RH, Gemen EF, de Vries E. Intrinsic defect of the immune system in children with Down syndrome: a review. Clin Exp Immunol 2009; 156:189.
- Atlantoaxial instability in Down syndrome: subject review. American Academy of Pediatrics Committee on Sports Medicine and Fitness. Pediatrics 1995; 96:151.
- Hankinson TC, Anderson RC. Craniovertebral junction abnormalities in Down syndrome. Neurosurgery 2010; 66:32.
- Pueschel SM, Herndon JH, Gelch MM, et al. Symptomatic atlantoaxial subluxation in persons with Down syndrome. J Pediatr Orthop 1984; 4:682.
- American Academy of Pediatrics. Committee on Genetics. American Academy of Pediatrics: Health supervision for children with Down syndrome. Pediatrics 2001; 107:442.
- Skotko BG, Macklin EA, Muselli M, et al. A predictive model for obstructive sleep apnea and Down syndrome. Am J Med Genet A 2017; 173:889.
- Hsiang YH, Berkovitz GD, Bland GL, et al. Gonadal function in patients with Down syndrome. Am J Med Genet 1987; 27:449.
- Bovicelli L, Orsini LF, Rizzo N, et al. Reproduction in Down syndrome. Obstet Gynecol 1982; 59:13S.
- Issues of Sexualtiy in Down Syndrome. http://www.ds-health.com/issues.htm (Accessed on July 19, 2012).
- Johannisson R, Gropp A, Winking H, et al. Down's syndrome in the male. Reproductive pathology and meiotic studies. Hum Genet 1983; 63:132.
- Sheridan R, Llerena J Jr, Matkins S, et al. Fertility in a male with trisomy 21. J Med Genet 1989; 26:294.
- Pradhan M, Dalal A, Khan F, Agrawal S. Fertility in men with Down syndrome: a case report. Fertil Steril 2006; 86:1765.e1.
- Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study. Lancet 2002; 359:1019.
- Strauss D, Eyman RK. Mortality of people with mental retardation in California with and without Down syndrome, 1986-1991. Am J Ment Retard 1996; 100:643.
- Irving CA, Chaudhari MP. Cardiovascular abnormalities in Down's syndrome: spectrum, management and survival over 22 years. Arch Dis Child 2012; 97:326.
- Englund A, Jonsson B, Zander CS, et al. Changes in mortality and causes of death in the Swedish Down syndrome population. Am J Med Genet A 2013; 161A:642.
- Kucik JE, Shin M, Siffel C, et al. Trends in survival among children with Down syndrome in 10 regions of the United States. Pediatrics 2013; 131:e27.
- Rasmussen SA, Wong LY, Correa A, et al. Survival in infants with Down syndrome, Metropolitan Atlanta, 1979-1998. J Pediatr 2006; 148:806.
- Rankin J, Tennant PW, Bythell M, Pearce MS. Predictors of survival in children born with Down syndrome: a registry-based study. Pediatrics 2012; 129:e1373.
- Glasson EJ, Sullivan SG, Hussain R, et al. The changing survival profile of people with Down's syndrome: implications for genetic counselling. Clin Genet 2002; 62:390.
- Glasson EJ, Sullivan SG, Hussain R, et al. Comparative survival advantage of males with Down syndrome. Am J Hum Biol 2003; 15:192.
- Wiseman FK, Alford KA, Tybulewicz VL, Fisher EM. Down syndrome--recent progress and future prospects. Hum Mol Genet 2009; 18:R75.
- Wetmore DZ, Garner CC. Emerging pharmacotherapies for neurodevelopmental disorders. J Dev Behav Pediatr 2010; 31:564.
- Bianchi P, Ciani E, Guidi S, et al. Early pharmacotherapy restores neurogenesis and cognitive performance in the Ts65Dn mouse model for Down syndrome. J Neurosci 2010; 30:8769.
- Ani C, Grantham-McGregor S, Muller D. Nutritional supplementation in Down syndrome: theoretical considerations and current status. Dev Med Child Neurol 2000; 42:207.
- Garcez ME, Peres W, Salvador M. Oxidative stress and hematologic and biochemical parameters in individuals with Down syndrome. Mayo Clin Proc 2005; 80:1607.
- Capone GT. Down syndrome: advances in molecular biology and the neurosciences. J Dev Behav Pediatr 2001; 22:40.
- Miles MV, Patterson BJ, Chalfonte-Evans ML, et al. Coenzyme Q10 (ubiquinol-10) supplementation improves oxidative imbalance in children with trisomy 21. Pediatr Neurol 2007; 37:398.
- Ellis JM, Tan HK, Gilbert RE, et al. Supplementation with antioxidants and folinic acid for children with Down's syndrome: randomised controlled trial. BMJ 2008; 336:594.
- Livingstone N, Hanratty J, McShane R, Macdonald G. Pharmacological interventions for cognitive decline in people with Down syndrome. Cochrane Database Syst Rev 2015; :CD011546.
- Babies with Down syndrome: A new parent's guide, 2nd ed, Stray-Gundersen K (Ed), Woodbine House, Bethesda 1995.
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