About the Health Care Guidelines

The health care 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 conditionssuggestions for early intervention, diet and exercise and other issues across the lifespan. 

Significance of Down Syndrome health care 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. 
  • Use the health care guidelines accessible to you and bring materials with you to the doctor! 

Pediatric Guidelines

American Academy of Pediatrics Guide for Families of Children with Down Syndrome: Health Care Information for Families of Children with Down Syndrome 

  • These guidelines are based on “Health Supervision for Children with Down Syndrome” published in Pediatrics (Vol. 128, No. 2, August 1, 2011.  pp. 393 -406.) 

Based on the 1999 Down Syndrome Health Care Guidelines for Individuals with Down Syndrome as published in Down Syndrome Quarterly (Volume 4, Number 3, September, 1999, pp. 1-16.) 

Topics addressed:  

  • 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, singlefinger 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).

Adult Guidelines

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! 


Additional Resources:

NDSS RESOURCES

NDSS RESOURCES