Green River Area Down Syndrome Association

HEALTH CARE GUIDELINES FOR CHILDREN AND ADULTS WITH DOWN SYNDROME

People with Down syndrome are at increased risk for certain health problems compared to the general population. Congenital heart defects, increased susceptibility to infection, respiratory and hearing problems, obstructed digestive tracts, thyroid conditions, and sleep apnea occur with greater frequency in persons with Down syndrome. However, with advances in medical care, most heart defects are correctable with surgery, most health issues are treatable and people with Down syndrome lead healthy lives, with a life expectancy of 55 years.

The Down Syndrome Health Guidelines, compiled by the Down Syndrome Medical Interest Group, and specialized growth charts, assists families and medical professionals in providing appropriate medical and preventative care. They were designed to 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. It is a helpful tool for physicians because it defines the medical vulnerabilities and the necessary screenings. Most pediatricians only care for a few children with Down syndrome in their practice, and although they may be knowledgeable about the current recommendations, they dont keep up-to-date in the same way as parents, who become experts about the needs of their children. In essence, parents need to be educated to be the educator for the physician.

Neonatal (Birth-1 Month)

  • Chromosomal karotype and genetic counseling, if necessary.
  • If vomiting or absence of stools, check for gastrointestinal tract blockage (duodenal web or atresia or
    Hirschsprung disease.)
  • Evaluation by a pediatric cardiologist including echocardiogram. Subacute bacterial endocarditis
    prophylaxis (SBE) in susceptible children with cardiac disease.
  • Exam for plethora, thrombocytopenia.
  • Review feeding history to ensure adequate caloric intake.
  • Thyroid function test - check on results of state-mandated screening at birth.
    Auditory brainstem response (ABR) or otoacoustic emission (OAE) test to assess congenital
    sensorineural hearing (at birth or 3 months).
  • Pediatric ophthalmological evaluation (by 6 months) for screening purposes.
  • Discuss value of early intervention (infant stimulation) and refer to enrollment in local program.
  • Refer to local Down syndrome parent support group for family support and resources.

Infant (1-12 Months)

  • General neurological, neuromotor and musculoskeletal examination.
  • TSH and T4 - Thyroid Function Test (at 6 and 12 months).
  • Evaluation by a pediatric cardiologist including echocardiogram, if not done at birth. Consider
    progressive pulmonary hypertension in patients with a VSD or atrioventricular septal defect who are
    having little or no symptoms of heart failure.
  • Subacute bacterial endocarditis prophylaxis (SBE) as indicated.
  • Well child care: immunizations.
  • Feeding consult, especially if constipated. Consider Hirschsprung disease.
  • Auditory brainstem response (ABR) or otoacoustic emission (OAE) test to assess congential
    sensorineural hearing (by 3 months if not performed previously or if results are suspicious).
  • Ear, nose and throat exam (as needed), especially if suspicious of otitis media (ear infection).
  • Well balanced, high-fiber diet.
  • Vision exam (by 6 months and annually), earlier if nystagmus, strabismus or indications of poor vision.
  • Discuss early intervention and refer for enrollment in local program (if not done yet).
  • Application for Supplemental Security Income (SSI), depending on family income; consider estate
    planning and custody arrangements; continue family support.

Childhood (1-12 Years)

  • TSH and T4 - Thyroid Function Test (annually).
  • Echocardiogram by a pediatric cardiologist if not done previously.
  • Behavioral Auditory Testing (every 6 months until age 3, then annually).
  • Lateral cervical spine x-rays (neutral view, flexion, extension) to rule out atlanto-axial instability.
  • Radiologist to measure atlanto-dens distance and neural canal width (at 3-5 years, then as needed).**
  • General pediatric and neurological exam, including evaluation for signs of spinal cord compression:
    deep tendon reflexes, gait, Babinski sign.
  • Use Down syndrome growth charts and head circumference charts, as well as growth charts for
    typically developing children.
  • Eye examination (annually or more often as indicated).
  • Screen for celiac disease IgA antiendomysium antibodies and total IgA (between 2 and 3 years).
  • Question about obstructive sleep apnea; ear, nose and throat (ENT) exam as needed.
  • Dental exam (2 years; follow up exams every 6 months after). Twice-daily teeth brushing.
  • Reinforce need for subacute bacterial endocarditis prophylaxis (SBE) for cardiac problems (as
    indicated).
  • Brief vulvar exam for girls.
  • Well child care: immunizations, pneumococcal vaccine (2 years).
  • Evaluation by a speech and language pathologist to maximize language development and verbal
    communication.
  • Review parental concerns; current level of functioning; monitor for behavior problems.
  • Continue speech therapy and physical therapy (as needed).

** Atlantoaxial dislocation refers to a weakness of neck muscles that affects approximately 10-20% of children with Down syndrome. Most cases are asymptomatic. A lateral cervical spine x-ray is recommended as a preventative measure against neck injuries for all children after age 2. If atlantoaxial dislocation is present, high-risk activities such as jumping, diving, etc. should be limited. In cases where symptoms are present, it can be surgically fused.

Adolescence (12-18 Years)

  • TSH and T4 - Thyroid Function Test (annually).
  • Auditory testing (annually).
  • Cervical spine x-ray, as needed for sports participation.
  • Monitor for obstructive airway disease and sleep apnea.
  • General physical and neurological examination (check for atlanto-axial dislocation).
  • Eye examination (annually).
  • Monitor for obesity by plotting height for weight on the growth charts for typical children.
  • Clinical evaluation of the heart to rule out mitral/aortic valve problems. Echocardiogram (ECHO) as
    indicated by clinical findings.
  • Reinforce the need for subacute bacterial endocarditis prophylaxis (SBE) in susceptible adolescents.
  • Adolescent medicine consult for puberty/sexuality issues; health, abuse prevention and sexuality
    education.
  • Pelvic exam (only if sexually active).
  • Low calorie, high fiber diet; regular exercise program.
  • Smoking, drug and alcohol education.
  • Psychoeducational evaluations (every 2 years) as part of Individualized Educational Plan.
  • Begin functional transition planning (age 16 years).
  • Monitor independent functioning.

 

Adulthood (More than 18 Years)

  • TSH and T4 - Thyroid Function Test (annually).
  • Auditory testing (every 2 years).
  • Cervical spine x-rays as needed for sports participation.
  • Opthalmologic examination, looking especially for keratoconus and cataracts (every 2 years).
  • Clinical evaluation of the heart to rule out mitral/aortic valve problems. Echocardiogram (ECHO) as
    indicated by clinical exam.
  • Reinforce the need for subacute bacterial endocarditis prophylaxis (SBE) in susceptible adults with
    cardiac disease.
  • Baseline Mammography at 40 years. Follow up every other year until 50 years, then annually.
  • Pap smear and pelvic exam (every 1-3 years after first intercourse). If not sexually active, single-finger
    bimanual examination with finger-directed cytology exam. If unable to perform, screen pelvic ultrasound
    (every 2-3 years). Breast exam (annually).
  • General physical and neurological examination (check for atlanto-axial dislocation); routine adult health
    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 skills.
  • Neurological referral for early symptoms of dementia (decline in function, memory loss, ataxia, seizures
    and incontinence of urine and/or stool).
  • Monitor for behavioral or emotional changes and/or mental health problems. Psych referral (as needed).
  • Continue speech therapy and language therapy, as indicated.

* Based on Health Care Guidelines for Individuals with Down Syndrome: 1999 Revision (Down Syndrome Preventive Medical Checklist).
GRADSA
P.O. Box 2031
Owensboro, KY 42302		 (270) 771-4945
info@gradsa.org
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