About the Healthcare Guidelines
The healthcare guidelines mentioned below help define the standards of quality care for individuals with Down syndrome. They include specific recommendations for screening tests, information about common medical conditions, suggestions for early intervention, diet and exercise and other issues across the lifespan.
Significance of Down Syndrome healthcare-specific guidelines:
- For Parents: Specialized guidelines help define for parents what is needed, so they can communicate with their primary care physician and say, “This is what is recommended. This is what we need to do.”
- For Physicians: Defines the medical vulnerabilities and the necessary screenings for the Down syndrome population
Selecting the right health care professional:
- Find a professional who will collaborate with you, and someone who is open to listening to parents and seeing them as partners.
- One of the best ways to find a professional in your area is to ask families of other children with Down syndrome in the area.
- Search online parent support groups or find your local Down syndrome organization for support.
The American Academy of Pediatrics publishes a guideline for families and physicians to navigate the health needs of children with Down syndrome. The guidelines were recently updated to include prenatal guidance, building upon previous versions that provide age-based care and treatment.
- The current version (“Health Supervision for Children Down Syndrome”) was published in Pediatrics (Vol. 149, Issue 5, May 2022). An electronic version can be accessed here: https://publications.aap.org/pediatrics/article/149/5/e2022057010/186778/Health-Supervision-for-Children-and-Adolescents
- 2011: “Health Supervision for Children with Down Syndrome” published in Pediatrics (Vol. 128, No. 2, August 1, 2011. pp. 393 -406.). An electronic version can be accessed here: pediatrics.aappublications.org/content/128/2/393. Additionally, the AAP Guide for Families of Children with Down Syndrome can be found here.
- 1999: “Health Care Guidelines for Individuals with Down Syndrome” published in Down Syndrome Quarterly (Volume 4, Number 3, September 1999, pp. 1-16). An electronic version can be accessed here: https://onlinelibrary.wiley.com/doi/abs/10.1002/0471227579.ch17
- TSH and T4-Thyroid Function Test (annual).
- Auditory testing (every 2 years).
- Cervical spine x-rays (as needed for sports); check for atlantoaxial dislocation.
- Ophthalmologic exam, looking especially for keratoconus & cataracts (every 2 years).
- Clinical evaluation of the heart to rule out mitral/aortic valve problems. Echocardiogram-ECHO (as indicated).
- Reinforce the need for subacute bacterial endocarditis prophylaxis (SBE) in susceptible adults with cardiac disease.
- Baseline Mammography (40 years; follow up every other year until 50, then annual).
- Pap smear and pelvic exam (every 1-3 yrs. after first intercourse).
- If not sexually active, single finger bimanual exam with finger-directed cytology exam.
- If unable to perform, screen pelvic ultrasound (every 2-3 years).
- Breast exam (annually).
- General physical/neurological exam. Routine adult care.
- Clinical evaluation for sleep apnea.
- Low calorie, high-fiber diet. Regular exercise. Monitor for obesity.
- Health, abuse-prevention and sexuality education. Smoking, drug and alcohol education.
- Clinical evaluation of functional abilities (consider accelerated aging); monitor loss of independent living skills.
- Neurological referral for early symptoms of dementia: decline in function, memory loss, ataxia, seizures and incontinence of urine and/or stool.
- Monitor for behavior/emotional/mental health. Psych referral (as needed).
- Continue speech and language therapy (as indicated).
GLOBAL Medical Care Guidelines for Adults with Down Syndrome
The GLOBAL Medical Care Guidelines for Adults with Down Syndrome provide first-of-kind, evidence-based medical recommendations to support clinicians in their care of adults with Down syndrome. This life-changing resource as published in JAMA covers 9 topic areas deemed critically important for the health and well-being of adults with Down syndrome and outlines critical future research needs. Adults with Down syndrome and their caregivers should review the GLOBAL Guidelines with their clinicians to ensure they are receiving care meeting best-practice standards for adults with Down syndrome!
- Webinar: An Evening with William Cohen
- Download Aging and Down Syndrome: A Health & Well-Being Guidebook and Envejecimiento y Síndrome de Down: Una Guía de Salud y Bienestar. You can order complimentary copies of this publication in English or Spanish by calling 800-221-4602 or emailing firstname.lastname@example.org.
- Aging and Down Syndrome: Webinar Slides and Webinar Video