Health Care Guidelines

Health Care Guidelines for Individuals with Down Syndrome: 1999 Revision
Down Syndrome Preventive Medical Check List is published in Down Syndrome Quarterly (Volume 4, Number 3, September, 1999, pp. 1-16) and is reprinted, duplicated, and/or transmitted with permission of the Editor. Information concerning publication policy or subscriptions may be obtained by contacting Dr. Samuel J. Thios, Editor, Denison University, Granville, OH 43023 (email: thios@denison.edu).

Neonatal (Birth-1 Month)

• Review parental concerns. Chromosomal karyotype; 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 opthalmological evaluation (by 6 months) for screening purposes.
• Discuss value of Early Intervention (infant stimulation) and refer for enrollment in local program.
• Referral to local Down syndrome parent group or family support and resources, as indicated. Referral to NDSS.

Infant (1-12 Months)

• General neurological, neuromotor and musculoskeletal examination.
• TSH and T4-Thyroid Function Test (6 & 12 months).
• Evaluation by pediatric cardiologist including echocardiogram (if not done at birth). Consider progressive pulminary hypertension if VSD or atrioventricular septal defect and 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 congenital sensorineural hearing (by 3 months if not already, or if suspicious).
• Ear, nose and throat exam (as needed), especially if suspicious of otitis media.
• 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.
• 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 (annual).
• Echocardiogram by a pediatric cardiologist if not done previously.
• Behavioral Auditory Testing (every 6 months to 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).
• Pediatric and neurological exam with evaluation for spinal cord compression: deep tendon reflexes, gait, Babinski sign.
• Use Down syndrome growth charts and head circumference charts with others.
• Eye examination (annually, or as indicated).
• Screen for celiac disease IgA antiendomysium antibodies and total IgA (btwn 2 & 3 yrs)
• Question about obstructive sleep apnea; ENT exam (as needed).
• Dental Exam (2 years; follow up exams every 6 months after). Twice daily 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 speech/language pathologist.

Adolescence (12-18 Years)

• TSH and T4-Thyroid Function Test (annual).
• Auditory Testing (annually).
• Monitor for obstructive airway; sleep apnea.
• General physical and neurological exam; check for atlanto-axial dislocation. Cervical spine x-ray (as needed for sports).
• Eye examination (annually).
• Monitor for obesity by plotting height for weight on growth charts for typical children
• Clinical evaluation of the heart to rule out mitral/aortic valve problems. ECHO - Echocardiogram (as indicated by findings).
• Reinforce 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
• Smoking, drug and alcohol education.
• Begin functional transition planning (16 yrs). Monitor independent functioning.

Adulthood (More than 18 Years)

• TSH and T4-Thyroid Function Test (annual).
• Auditory testing (every 2 years).
• Cervical spine x-rays (as needed for sports); check for atlanto-axial dislocation.
• Opthalmologic exam, looking especially for keratoconus & cataracts (every 2 yrs)
• 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 yrs; follow up every other yr 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 & alcohol ed.
• 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).

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