Obesity in Children with Down Syndrome: Background and Recommendations for Management

Julie Murray, MSN, BA, RN, CPNP; Patricia Ryan-Krause, MS, MSN, RN, CPNP


Pediatr Nurs. 2010;36(6):314-319. 

In This Article

Abstract and Introduction


Children with Down syndrome have a higher risk for developing obesity. The primary care provider can assist the family in preventing or managing obesity by recognizing the physiological and behavioral factors that place children and adolescents with Down syndrome at increased risk to become obese, and establishing a screening and management plan early to prevent or treat excess weight gain. By using adapted strategies, the negative physiological and psychological outcomes associated with obesity may be lessened or avoided in this specific population.


Down syndrome, also called Trisomy 21, is a chromosomal disorder that results from genetic changes on chromosome 21. Almost 95% of cases are caused by nondisjunction, meaning the chromosome 21 pair fails to separate during cellular division (Nehring, 2010). The second cause results from translocation – when a chromosomal segment moves to a new position (Tolmie, 2002). The third chromosomal defect is mosaicism, which occurs when a mutation on chromosome 21 takes place later in cell division, resulting in affected and normal cells. This mosaic form of Down syndrome is thought to affect individuals less severely than nondisjunction or translocation (Leshin, 2000). Down syndrome is encountered in all racial and ethnic groups, and becomes more prevalent with advanced paternal and maternal age (Tolmie, 2002). The incidence is approximately 1 in 800 live births (Aitken, Crossley, & Spencer, 2002).

Down syndrome is characterized by a unique phenotype and associated with multiple congenital anomalies (Castiglia, 1998). Classic phenotypic findings include brachycephaly, epicanthal folds, palpebral fissures, macroglossia, neck skinfolds, clinodactyly, single transverse palmar creases, and widely spaced first and second toes (Nehring, 2010). Common congenital anomalies associated with Down syndrome include gastrointestinal tract anomalies (such as esophageal and duodenal atresia), tracheoesophageal fistula, pyloric stenosis, Hirshprung's disease, and imperforate anus (Tolmie, 2002). Fifty-eight percent of children with Down syndrome are born with cardiac defects. The most common defects include atrial septal defect, ventricular septal defect, and patent ductus arteriosus (Figueroa, Magaña, Pablos Hach, Jiménez, & Urbina, 2002).

Some degree of cognitive deficit occurs in all children with Down syndrome, although intellectual abilities vary greatly from being mildly affected to severely impaired (Nehring, 2010). Congenital or acquired hearing loss occurs in 45% to 75% of affected children and may be attributed to structural differences of the skull, eustachian tube dysfunction, or recurrent otitis media (Tolmie, 2002). Musculoskeletal differences include generalized hypotonia, joint laxity, and atlantoaxial instability of the spine (Nehring, 2010). Other associated problems in children with Down syndrome include growth retardation, altered immune function, celiac disease, seizure disorders, leukemia, skin conditions, visual problems, altered dentition, sleep-disordered breathing, and thyroid dysfunction (Nehring, 2010). In addition, all individuals with Down syndrome have a 4 to 16-fold increased risk of mortality due to venous thromboembolitic disorders, cardiovascular disease, and cerebrovascular disease (Hill et al., 2003).


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.