From the Guidelines
Adults with Down syndrome require comprehensive and regular health screenings to detect and manage various health conditions that are prevalent in this population, including hypothyroidism, leukemia, Alzheimer’s disease, depression, atlantoaxial subluxation, obesity, and sleep apnea. According to the acc/aha 2008 guidelines for the management of adults with congenital heart disease 1, regular screening for these ailments should be performed.
Key Screening Considerations
- Annual thyroid function tests to detect hypothyroidism
- Vision and hearing assessments should be performed annually
- Cardiac evaluations are essential every 5 years, even in asymptomatic adults
- Sleep studies should be considered to screen for obstructive sleep apnea
- Cervical spine x-rays are recommended at least once in adulthood to assess for atlantoaxial instability
- Earlier screening for Alzheimer's disease, starting at age 40, with baseline cognitive assessments and regular follow-ups
- Celiac disease screening should be performed periodically, as should assessment for obesity, diabetes, and metabolic disorders
- Mental health evaluations are important to identify depression and anxiety, which may present atypically. The cardiologist may be the only regular healthcare provider for adults who have congenital syndromes and chromosomal abnormalities in association with their CHD, and therefore, careful screening and appropriate referrals should take place 1.
From the Research
Screening Considerations for Adults with Down Syndrome
- Regular medical examinations are necessary for adults with Down syndrome, with a recommended annual check-up with the primary doctor 2
- Screening for hearing loss is recommended every three years, as sensorineural hearing loss may occur before the age of 30 2
- Screening for cataract is recommended every five years, as cataract may occur before the age of 30 2
- Thyroid dysfunction is common in adults with Down syndrome, with hypothyroidism developing in up to half of the population 2, 3, 4
- Routine screening for thyroid dysfunction can be reduced to every 5 years for adults with Down syndrome who are euthyroid 5
- Screening for atlantoaxial instability is necessary, with radiological examination of the neck required before intervention under general anesthesia 2
- Screening for Alzheimer-type dementia is recommended starting at age 40 years 6
- Screening for diabetes, cardiovascular disease, obesity, and osteoporosis is also recommended, with earlier initiation and shorter intervals due to the high prevalence and earlier onset in adults with Down syndrome 6
- Behavioral changes, such as loss of skills, withdrawal, psychomotoric retardation, and mutism, may be symptoms of mental illness or the onset of Alzheimer's dementia and require referral to the habilitation service 2