HEALTH WATCH TABLE — Down Syndrome

Considerations Recommendations
1. Head, eyes, ears, nose, throat
  • Children and Adults: Vision:
  • 15% have cataracts
  • 20% - 70% have significant refractive errors
  • 5% - 15% of adults have keratoconus
  • Hearing: 50% - 80% have a hearing deficit
  • Neonatally: refer immediately to an ophthalmologist if the red reflex is absent or if strabismus, nystagmus or poor vision is identified
  • Arrange ophthalmological assessment: first by 6 months for all; then every 1-2 years, with special attention to cataracts, keratoconus, and refractive errors
  • During childhood: screen vision annually with history and exam; refer as needed
  • Arrange auditory brainstem response (ABR) measurement by 3 months if  newborn screening has not been done or if results were suspicious
  • During childhood: screen hearing annually with history and exam; review risks for frequently occurring serious otitis media
  • Undertake auditory testing: first at 9 – 12 months, then every 6 months  up to 3 years, annually until adulthood, then every two years
  • Treat otitis media promptly and aggressively
  • Refer to an ENT surgeon if recurring otitis media
2. Dental
  • Children and Adults: tooth anomalies are common
  • Increased risk of periodontal disease in adults
  • Undertake initial dental exam at 2 years, then every 6 months thereafter. Encourage proper dental hygiene. Refer to an orthodontist if needed
  • Undertake clinical exams every six months with referral, as appropriate
3. Cardiovascular
  • Children: 30% - 60% have congenital heart defects (CHD)
  • Newborn: Obtain an echocardiogram and refer to a cardiologist, even in the absence of physical findings
  • In children and adolescents: review cardiovascular history and assess for physical signs with specialist referral if indicated
  • Refer for an echocardiogram if not previously done
  • Undertake SBE prophylaxis as indicated by findings
  • Adults: 50% have cardiovascular concerns, commonly acquired mitral valve prolapse (MVP) and valvular regurgitation
  • Ascertain a comprehensive cardiovascular history
  • Undertake an annual cardiac exam, with echocardiogram to confirm new abnormal findings and follow-up depending on the type of cardiovascular problem present or refer to an Adult Congenital Heart specialist or Disease clinic
  • Monitor regularly those that have had surgery in childhood
  • An echocardiogram is indicated to assess new abnormal physical findings or if unable to assess adequately by physical exam. Consider echocardiogram to establish baseline cardiac anatomy and function if not previously done or records are unavailable1
4. Sleep
  • Children and Adults: 50% - 80% have obstructive sleep apnea (OSA)
  • Ascertain a detailed sleep history, with attention to OSA symptoms, such as snoring, noisy breathing, sweating in sleep, restless sleep and morning dry mouth, nasal congestion or headaches. Refer to a sleep specialist for evaluation, including a sleep study, if OSA is suspected.
  • Other sleep disorders, such as insomnia, parasomnias (sleepwalking, sleep terrors or confusional arousals) or daytime sleepiness can be ascertained by sleep history.
  • Adenotonsillectomy is less effective in this population due to craniofacial abnormalities, hypotonia and other factors, so continuous positive airway pressure and ENT procedures (craniofacial surgery) should be considered.
5. Respiratory
  • Children and Adults: Respiratory infections are more common and often more severe; also, choking with feeding is more common
  • For recurrent pneumonia or if aspiration pneumonia is suspected, investigate for possible swallowing disorder and gastro-esophageal reflux disease; for adults, also inquire about smoking
6. Gastrointestinal
  • Children: 50% have gastrointestinal (GI) tract anomalies including duodenal atresia, celiac disease, Hirschsprung disease, and imperforate anus
  • Newborn: with vomiting or absent stools, check for GI tract blockage and refer to a gastroenterologist
  • Infants and children: anticipate constipation; treat with fluid/fiber/laxative/stool softener/exercise/dietary change
  • From 2-3 years of age, screen for celiac disease
  • Establish good dietary and exercise habits to prevent or manage obesity
  • Adults: 95% are obese
  • 7% have celiac disease
  • Monitor for obesity
  • Screen for celiac disease, which may present in adulthood; screening tests used are the same as in the general population2
  • Test for Helicobacter Pylori and treat if positive, regardless of symptoms
  • Manage constipation proactively
7. Genitourinary
  • Children: Cryptorchidism is common
  • Assess for hypogonadism, undescended testes, and possible testicular
  • germ-cell tumors, or refer to a urologist, as appropriate
  • Adults: Have increased risk of testicular cancer
  • Assess annually by clinical exam, and refer to a urologist as appropriate3
8. Sexual function
  • Adults:  Fertility has been documented in women
  • Fertility in males rarely reported
  • Counsel regarding fertility possibility and the 50%4 risk of Down syndrome in offspring
  • Suggest birth control when girls begin having periods to avoid unwanted pregnancy
9. Musculoskeletal (MSK)
  • Children: 15% have atlanto-axial instability (AAI)
  • Arrange lateral cervical spine X-rays (flexed, neutral, and extended positions) between 3-5 years of age
  • Screen, as needed, prior to high risk activities (e.g., tumbling) and if participating in Special Olympics
  • Undertake an annual neurological exam for signs or symptoms of spinal cord compression. If present, refer urgently to a neurosurgeon and arrange an urgent MRI
  • Obtain a detailed MSK history with particular attention to possible joint subluxations/dislocations, scoliosis, and hip abnormalities
  • Adults: Continued  risk for spinal cord compression secondary to AAI
  • Though data are limited, osteoporosis (associated with increased fractures risk) may be more common in older adults with Down syndrome than in similar aged individuals in the general population or with other developmental disabilities
  • Confirm that cervical spine is in neutral position for anesthetic, surgical or radiological procedures
  • Undertake an annual neurological exam and assess for evidence of spinal cord compression
  • Arrange lateral cervical spine X-rays if not previously done, if presenting with signs and symptoms of AAI or if participating in Special Olympics
  • Take detailed history and attend to joint complaints, scoliosis, and hip abnormalities
  • If suspected, undertake bone mineral density (BMD) screening and refer to an appropriate specialist if indicated
  • Encourage ambulation/mobility and weight reduction if obesity is present to decrease the risk of osteoarthritis
10. Neurological
  • Children: Epilepsy in up to 22%
  • Take careful neurological history with particular attention to seizures (infantile spasms or tonic-clonic-type)
  • Refer to a neurologist if history indicates possible seizures
  • Adults: Dementia is frequent and occurs earlier
  • 11%: 40 – 49 years
  • 77%: 60 – 69 years
  • Up to 75% with dementia have seizures with frequency increasing with age
  • Obtain a neuropsychiatric history at every visit with particular attention to change in behavior, loss of function/activities of daily living, and new onset seizures
  • If functional decline and/or signs/symptoms of dementia, use history, exam, and blood work to check for other conditions and treatable causes (e.g., hearing/vision deficits, obstructive sleep apnea, hypothyroidism, chronic pain, medication side effects, depression, menopause, low folic acid/vitamin B12)
  • Refer to a neurologist if history indicates possible seizures
11. Dermatological
  • Children and Adults:Dry skin, atopic dermatitis, seborrheic dermatitis, chelitis, impetigo, and alopecia areata are more common than in general population
  • Examine skin as part of routine care
  • Treat as per general population, with referral to dermatologist as needed
12. Behavioral/mental health
  • Children: Self-talk is very common; autism spectrum disorder occurs in 5% - 10% of children with DS
  • Review regularly with respect to behavioral concerns
  • Review for signs suggestive of psychosis
  • Adults: 30% have a psychiatric disorder, including depression
  • Review regularly with respect to behavioral concerns
  • Ascertain neuropsychiatric history at every visit, with particular attention to changes in behavior, loss of function/activities of daily living, and new onset seizures
13. Endocrine
  • Children: 1% have congenital hypothyroidism
  • 20% develop hypothyroidism after birth
  • Review neonatal screening
  • Ascertain TSH and free T4 tests to confirm euthyroid status at 6 and 12 months, then annually
  • If signs of hyperthyroidism in adolescence, check for autoimmune thyroiditis
  • Adults: 15% - 50% are hypothyroid
  • Subclinical hypothyroidism, hyperthyroidism, and autoimmune thyroiditis are more common than in the general population
  • For adults who are euthyroid, check TSH and free T4 levels at least once every 5 years5 (some recommend annually)6
  • If subclinical hypothyroidism (i.e., elevated TSH with normal free T4), follow free T4 every 6 months for one year7 (some recommend treatment if thyroid antibodies are positive)
  • Consider checking thyroid function whenever there are changes in mental status, behavior or functional abilities
14. Hematological
  • Children and Adults: Increased frequency of transient myeloproliferative disorder
  • Children: Increased frequency of leukemia
  • No increased risk of leukemia in adults
  • Neonates to 1-month-olds: investigate for polycythemia and thromobocytopenia
  • Assess history periodically for symptoms of leukemia, with close attention to those with a history of transient myeloproliferative disorder
  • Monitor for anemia as 10% of children 12 months or older can have iron deficiency or anemia

Original tool: © 2011 Surrey Place Centre.
Developed by Forster-Gibson C, Berg J, & Developmental Disabilities Primary Care Initiative Co-editors.

Expert Clinician Reviewers
Thanks to the following clinicians for their review and helpful suggestions.

  • Brian Chicoine, MD
    Medical Director, Adult Down Syndrome Center of Lutheran General Hospital
    Park Ridge, Illinois
  • Len Leshin, MD
    Down Syndrome: Health Issues
    Corpus Christi, Texas

Modified with permission of Surrey Place Centre. This tool was reviewed and adapted for U.S. use by physicians on the Toolkit’s Advisory Committee; for list, view here.

Resources

References  

  1. Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, et al. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med 2008 Jul;10(7):469-94.
  2. National Institute for Clinical Excellence. Coeliac disease: recognition and assessment of coeliac disease – Quick reference guide. London: National Institute for Clinical Excellence; 2015. Available at: https://www.nice.org.uk/guidance/ng20. Accessed November 2017.
  3. Patja K, Pukkala E, Sund R, Iivanainen M, Kaski M. Cancer incidence of persons with Down syndrome in Finland: a population-based study. Int J Cancer. 2006 Apr 1;118(7):1769-72.
  4. Galley R. Medical management of the adult patient with Down syndrome. JAAPA. 2005 Apr;18(4):45,6, 48, 51-2.
  5. Prasher V, Gomez G. Natural history of thyroid function in adults with Down syndrome–10-year follow-up study. J Intellect Disabil Res 2007 Apr;51(Pt 4):312-7.
  6. McGuire D, Chicoine B. Chapter 2: Assessing the physical health/mental health connection. In: McGuire D, Chicoine B, editors. Mental wellness in adults with Down syndrome: A guide to emotional and behavioral strengths and challenges. Bethesda, MD: Woodbine House; 2006. 9-28.
  7. Wallace RA, Dalton AJ. Clinicians’ guide to physical health problems of older adults with Down syndrome. Journal on Developmental Disabilities. 2006;12 (1 [Supplement 1]):1-92.