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

Assessment of the Child with Down Syndrome

Pediatric practitioners must perform a comprehensive assessment on a child with Down syndrome to develop appropriate prevention and management plans tailored to the child's condition and level of associated problems.


A complete history, including birth history, past medical history, laboratory results, surgical procedures, and hospitalizations, is important to have documented in the child's record. A thorough review of systems may assist in identifying current levels of activity, diet, behavioral problems, or health conditions requiring medical attention. As with all children, it is important to assess the child and the family's lifestyle patterns. A 24-hour dietary recall is one strategy to gain a basic understanding of eating habits. The dietary recall should include all food and beverages consumed by the child during a 24-hour period, excluding water (National Center for Health Statistics, 1994). In addition, asking the family to keep a food and activity journal for a week prior to the appointment may provide further insight into consumption trends and family patterns of activity. A family history of health risks should focus on factors such as high cholesterol, hypertension, heart disease, and diabetes mellitus.

Physical Examination

Key aspects of the physical examination will help a provider gauge changes in weight gain, recognize physiological contributions that cause obesity, identify risk factors, and decipher if the child may safely participate in physical activities to promote weight loss (see Table 1).

Measurements. The provider must establish baseline measurements for blood pressure, height, weight, and BMI. Blood pressure screening should be a routine part of care, and the child's blood pressure must be compared to age, height, and sex-based norms. Measurements for height and weight should be plotted on the National Center for Health Statistics growth charts specifically designed for children with Down syndrome. Growth charts for children with Down syndrome are adjusted to the reduced linear growth velocity due to congenital heart disease, hypothalamic dysfunction, thyroid disorder, and nutritional problems (Cohen 1999). By using both types of charts, the child's growth is compared to chronologic-age peers and Down syndrome peers (Nehring, 2010). The BMI should be calculated and plotted on a gender-specific BMI graph. A child with a BMI between the 85th and 95th percentile is considered overweight, while a BMI greater than the 95th percentile classifies the child as obese (Elliott, 2007).

Skin. Identifying skin changes that correspond to obesity is important and may indicate complications from being overweight. The practitioner should be alert to patterns of fat deposition, such as android (central fat deposition) versus gynoid (pearshaped fat deposition), and note areas where striae are present. Additionally, it is essential to recognize signs of insulin resistance, which is common in overweight children with Down syndrome (Fonesca et al., 2005). Signs of insulin resistance include the appearance of acanthosis nigricans, which are dark, creased areas commonly located on the skin of the neck, axillae, elbows, knuckles, groin, and knees. If these changes are present, the child should be screened for fasting blood glucose and insulin levels. If the screening is abnormal, an oral glucose tolerance test (OGTT) should be ordered to screen for the presence of insulin resistance, impaired glucose tolerance, and diabetes mellitus.

Neck. It is important to examine the thyroid gland carefully for changes in size or consistency due to the high prevalence of hypothyroidism in children with Down syndrome. Thyroid problems may also manifest as weight gain, dry skin, or decreased height velocity (Cohen, 2006). The examination is often unremarkable; therefore, current recommendations include performing annual thyroid function screening tests by drawing levels of T3, T4, and TSH (American Academy of Pediatrics [AAP] Committee on Genetics, 2001). If hypothyroidism is detected based on childhood norms, the child should be referred to an endocrinologist for treatment with thyroxine to promote a euthyroid state and metabolic homeostasis.

Atlantoaxial Instability. Between 10% to 30% of children with Down syndrome have atlantoaxial instability (Winell & Burke, 2003). Atlantoaxial instability is the result of laxity between the cervical vertebrae and is evident by an atlantoaldens interval of 4.5 mm or more between C1 and C2 on radiographs (Cohen, 2006). Children who have atlantoaxial instability are at greater risk of incurring spinal cord compression, injury, paralysis, and in some cases, death (Cohen, 2006). Discrepancy exists regarding the screening protocols used for atlantoaxial instability. Current guidelines recommend all children with Down syndrome have radiographic evaluation between 3 to 5 years of age (AAP Committee on Genetics, 2001). Primary care providers should confirm this X-ray has been completed and the results show no indication of instability prior to instituting a physical activity program for weight management or clearing the child for sports activities. If the child develops any new neck pain, weakness, head tilt, or abnormal gait, re-screening with another X-ray is advised.

Heart. All children with Down syndrome should receive screening at birth for congenital cardiac defects. Most significant defects will be surgically corrected during the first year of life. Individuals with Down syndrome are prone to additional cardiac problems later in life. The incidence of mitral valve prolapse increases in the teenage years, and manifests on examination as a late systolic crescendodecrescendo murmur with a mid-systolic click heard best at the apex. Aortic regurgitation is a blowing, decrescendo diastolic murmur heard best at the third left intercostal space, radiating to the left sternal border (Cable, 1997). If any abnormalities are found on the cardiac examination, the child should be referred to a cardiologist for further evaluation that may include an electrocardiogram (EKG) and echocardiogram. The cardiologist will determine if the child is cleared to participate in vigorous physical activity. The Special Olympics organization suggests screening for the presence of mitral valve prolapse and aortic regurgitation prior to any participation in sports-related physical activity (Platt, 2001).

Musculoskeletal System. Joints must be thoroughly examined due to the common finding of joint laxity in children with Down syndrome. Special care should be taken while examining the hips, knees, and feet (Winell & Burke, 2003). Examining the hips for stability is necessary through 10 years of age because children with Down syndrome sometimes have instability that leads to recurrent dislocations, which in severe cases cause loss of ambulation (Hresko, McCarthy, & Goldberg, 1993). Knee strength, flexibility, and range of motion should be noted when screening for patellofemoral instability, which is known to occur in children with Down syndrome (Winell & Burke, 2003). The feet should also be carefully examined because 90% of children with Down syndrome have deformities of the forefoot, 60% have flat feet, 24% have calcaneal valgus, 22% have knee valgus, and 16% have pronated flat feet (Concolino, Pasquzzi, Capalbo, Sinopoli, & Strisciuglio, 2006). Properly fitting shoes, and in some cases, orthotics will enhance foot comfort and encourage physical activity. It is also important to note children with Down syndrome who are obese will likely place more strain on their musculoskeletal systems due to their weight; therefore, screening carefully for musculoskeletal abnormalities and joint laxity is imperative to prevent unnecessary injury.


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