Am Fam Physician. 2022;105(4):436-437
Author disclosure: No relevant financial relationships.
Key Points for Practice
• Assess adults with Down syndrome annually for dementia starting at 40 years of age.
• Screen adults with Down syndrome and obesity for type 2 diabetes mellitus with an A1C level every two to three years starting at 21 years of age and earlier if other diabetes risk factors are present; in adults with Down syndrome at a healthy weight, start screening at 30 years of age.
• Avoid routine cervical radiography in adults with Down syndrome unless suggested by neurologic symptoms.
• Screen adults with Down syndrome for hypothyroidism with a thyroid-stimulating hormone test every one to two years starting at 21 years of age.
From the AFP Editors
Down syndrome occurs in one of every 691 live births in the United States, making it the most common chromosomal condition and cause of developmental delay. Screening for comorbid conditions, early intervention programs, and subsequent medical management have helped increase life expectancy from 25 years in 1983 to 60 years today. In addition to mild to moderate intellectual disability, people with Down syndrome have increased risks of congenital cardiac and gastrointestinal anomalies, autoimmune disorders, leukemias, respiratory infections, sleep disorders, hearing and vision loss, and early development of dementia. People with Down syndrome often have limited expressive language skills, delayed motor skill development, and reduced executive functioning capacity. Inequitable access to care, issues of guardianship, and social stigma also contribute to the vulnerability of adults with Down syndrome.
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