Primary Care for Patients with Trisomy 21

Patients with trisomy 21, or Down syndrome (DS), are at risk for a variety of issues, extending across the age spectrum. The following table shows a range of issues common in children with DS:

Source: Bull et al. Pediatrics. 2022

Approaching such a range of issues in the primary care setting is discussed in the AAP’s 2022 clinical guideline entitled “Health Supervision for Children and Adolescents with Down Syndrome”.

Newborn period

In the newborn period, screening for several conditions is recommended:

  • Echocardiogram
  • Feeding problems (e.g., reflux, dysphagia)
  • Hearing test (at birth and every 6 months)
  • Ophthalmologic exam (by 6 months of life)
  • Thyroid function testing
  • Complete blood count

Why an echocardiogram?

About 50% of children with DS have some form of congenital heart disease. Common issues include complete AV septal defect, VSD, ASD, partial AV septal defect, tetralogy, and PDA. Pulmonary hypertension is also common, although most likely transient. If DS is diagnosed prenatally, then a prenatal echocardiogram is recommended.

Why feeding problems?

Reflux and dysphagia are common in patients with DS, affecting 31-80%. Dysphagia can result from both oromotor problems and oropharyngeal dysfunction. Other contributing factors include hypotonia, relative macroglossia with a small oral cavity, decreased jaw strength, and poor tongue control.

Why a hearing test?

Congenital hearing loss occurs in 15% of patients with DS while 38-78% will develop hearing loss over time, often a consequence of stenotic external canals (which should prompt an ENT referral) and recurrent otitis media with effusion.

Why an ophthalmologic exam?

Patients with DS more often have refractive errors, strabismus, or nystagmus. Other less common issues include cataracts, glaucoma, and corneal abnormalities.

Why thyroid testing?

Hypothyroidism is common regardless of age. It can be congenital or develop over time, often by age 10 years. Normal ranges for TFTs may be different.

Why a CBC?

Disorders specific to DS include transient abnormal myelopoiesis (formerly called transient myeloproliferative disorder) and polycythemia. Leukemia is another potential issue, affecting 1% of patients with DS (higher incidence than the general population). Additionally, in infants and older children with DS, iron deficiency is often missed because of the presence of macrocytosis, which affects around 1 in 3 patients with DS.

Infancy & Childhood

Several other conditions occur with increased frequency in patients with DS, but do not necessarily require early screening.

  • GI: celiac disease, Hirschsprung disease, esophageal atresia, tracheo-esophageal fistula, annular pancreas
  • GU: hypospadias, cryptorchidism
  • Endocrine: type 1 diabetes (3-8x higher incidence than in the general population)
  • MSK: atlantoaxial instability
    • PCPs should check for neurologic/myelopathic symptoms/signs at least annually and counsel patients/caregivers about contact sports and trampoline use (routine XR, though frequently performed, are not indicated in the absence of symptoms)
  • Neuro: increased frequency of autism spectrum disorder, seizures, infantile spasms, and moyamoya
  • Pulm/ENT: OSA
  • ID: immunodeficiency (e.g., chemotactic, IgG4 deficiency, T and B cell abnormalities)

Growth & Development

There are specific growth charts for DS, available through CDC. Patients with DS should be monitored for disturbances of growth associated with other disorders, such as hypothyroidism or celiac disease, and for excessive weight gain.

Regarding development, there are many issues to consider:

  • Motor: age of achievement is approximately doubled compared with controls
  • Cognitive: delays are commonly seen in language production, syntax, and memory; intellectual disability varies widely

Immunizations

Patients with DS should receive all standard childhood vaccinations. COVID-19 immunization is particularly important as these patients are at high risk for worse outcomes. Furthermore, patients with certain comorbidities (many of which are described above) may qualify under “special populations” recommendations for the pneumococcal and/or meningococcal vaccines.

Adolescence

Puberty may occur slightly later in boys with DS, but follows the expected progression.

All teenagers need sexual education, including pregnancy and STI education. Adolescents with DS should have sexual education tailored to their developmental status. A few resources:

Source: Bull et al. Pediatrics. 2022

Adulthood

The average life expectancy for patients with DS has increased remarkably over time–from 25 years of age in 1983 to 60 years of age in 2020. Nevertheless, despite the unique clinical comorbidities among adults with Down syndrome, there were no clinical guidelines for the care of these patients until recently. In 2020, JAMA published a clinical guideline that offered a number of recommendations (only one of which was labeled “strong”) for PICO questions addressing mental health, dementia, screening or treatment of diabetes, cardiovascular disease, obesity, osteoporosis, atlantoaxial instability, thyroid disease, and celiac disease, as follows.

Behavior

Recommendation 1: When concern for a mental health disorder in adults with DS is present, medical professionals should refer to a clinician knowledgeable about the medical, mental health disorders, and common behavioral characteristics of adults with DS. (Weak recommendation, Very low confidence in quality of evidence)

Recommendation 2: When concern for a mental health disorder in adults with DS is present, medical professionals should follow guidelines for diagnosis in the DSM-5; the DM-ID-2 also may be used to adapt diagnostic criteria from the DSM-5

  • The DM-ID-2 is an expert consensus tool helpful in recognizing mental health disorders in people with intellectual and developmental disabilities

Statement of good practice 1: A review of behavioral, functional, adaptive, and psychosocial factors should be performed as part of an annual history that clinicians obtain from all adults with DS, their families, and caregivers

Statement of good practice 2: When concern for a mental health disorder in adults with DS is present, medical professionals should evaluate for medical conditions that may present with psychiatric and behavioral symptoms

Dementia

Recommendation 3: Caution is needed when diagnosing age-related, Alzheimer-type dementia in adults with DS younger than 40 years because of its low prevalence before this age (Weak, Low)

Recommendation 4: Medical professionals should assess adults with DS and interview their primary caregivers about changes from baseline function annually beginning at age 40 years; decline in the following 6 domains as per the NTG-EDSD should be used to identify early-stage age-related Alzheimer-type dementia and/or a potentially reversible medical condition: cognition, memory, and executive function; behavior and personality; communication; adaptive functioning; ambulation and motor skills; general decline in established skills (Strong, Moderate)

Diabetes

Recommendation 5: For asymptomatic adults with DS, screening for type 2 diabetes using HbA1c or fasting plasma glucose should be performed every 3 years beginning at age 30 years (Weak, Moderate)

Recommendation 6: For any adult with DS and comorbid obesity, screening for type 2 diabetes using HbA1c or fasting plasma glucose should be performed every 2-3 years beginning at age 21 years (Weak, Moderate)

Cardiovascular Disease: Atherosclerosis

Recommendation 7: For adults with DS without a history of ASCVD, the appropriateness of statin therapy should be assessed every 5 years starting at age 40 years and using a 10-year risk calculator as recommended for adults without DS by the USPSTF (Weak, Low)

Cardiovascular Disease: Stroke

Recommendation 8: For adults with DS, risk factors for stroke should be managed as specified by the American Heart Association/American Stroke Association guidelines for the primary prevention of stroke (Weak, Very low)

Recommendation 9: In adults with DS with a history of congenital heart disease, given the elevated risk of cardioembolic stroke, a periodic cardiac evaluation and a corresponding monitoring plan should be reviewed by a cardiologist (Weak, Very low)

Obesity

Recommendation 10: Monitoring for weight change and obesity should be performed annually by calculating BMI in adults with DS; the USPSTF behavioral weight loss interventions to prevent obesity-related morbidity and mortality in adults should be followed (Weak, Very low)

Statement of good practice 3: Healthy diet, regular exercise, and calorie management should be followed by all adults with DS as part of a comprehensive approach to weight management, appetite control, and enhancement of quality of life

Atlantoaxial Instability

Recommendation 11: In adults with DS, routine cervical spine radiographs should not be used to screen for risk of spinal cord injury in asymptomatic individuals; instead, annual screening of adults with DS should include signs and symptoms of cervical myelopathy using targeted history and physical examination [Weak (against), Very low]

Osteoporosis

Recommendation 12: For primary prevention of osteoporotic fractures in adults with DS, there is insufficient evidence to recommend for or against applying established osteoporosis screening guidelines, including fracture risk estimation; thus, good clinical practice would support a shared decision-making approach to this issue (Neither for nor against, NA)

Recommendation 13: All adults with DS who sustain a fragility fracture should be evaluated for secondary causes of osteoporosis, including screening for hyperthyroidism, celiac disease, vitamin D deficiency, hyperparathyroidism, and medications associated with adverse effects on bone health (Weak, Very low)

Thyroid

Recommendation 14: Screening adults with DS for hypothyroidism should be performed every 1-2 y using a serum thyrotropin test beginning at age 21 years (Weak, Moderate)

Celiac Disease

Statement of good practice 4: Adults with DS should receive an annual assessment for gastrointestinal and nongastrointestinal signs and symptoms of celiac disease using targeted history, physical examination, and clinical judgment of good practice

Source: Tsou et al. JAMA. 2020

Blog post based on Med-Peds Forum talk by Laura Schwartz, PGY3, and Tamara Lhungay, PGY3

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