Health care guidelines help define the standards of quality care for individuals with Down syndrome. In addition to specific recommendations for screening tests, they include information about the kinds of medical conditions that individuals with Down syndrome are at risk for and suggestions for early intervention, diet and exercise and other issues across the lifespan. 

 

The following recommendations are based on “Health Supervision for Children with Down Syndrome” as published in Pediatrics (Vol. 128, No. 2, August 1, 2011. pp. 393 -406.

 

Neonatal (Birth - 1 Month)

• Review parental concerns. Review chromosome analysis; genetic counseling, if not done prenatally.

• Check for signs and symptoms of gastrointestinal tract blockage (e.g., duodenal web, duodenal atresia, or Hirschsprung disease).

• Use typical growth charts from Centers for Disease Control (CDC), available at  www.cdc.gov/growthcharts. Use weight/height assessment, as well.

• If constipation present, evaluate for limited diet or fluids, hypotonia, hypothyroidism, gastrointestinal malformation, or Hirschsprung disease.

• Radoiographic swallowing assessment if marked low muscle tone, slow feeding, choking with feeds, recurrent or persistent respiratory symptoms, failure to thrive. Consider feeding referral, if needed.

• Echocardiogram read by a pediatric cardiologist and referral to pediatric cardiology if abnormalities present. Subacute bacterial endocarditis prophylaxis (SBE), in susceptible children with cardiac disease. If a heart condition is identified, monitor for signs and symptoms of congenital heart failure.

• Car seat evaluation to evaluate for apnea, low heart rate, or oxygen desaturation prior to discharge from the hospital at birth if child is hypotonic or has had cardiac surgery.

• Complete blood count (CBC) to rule out transient myeloproliferative disorder (TMD) or polycythemia.

• Review feeding history to ensure adequate caloric intake. Children with Down syndrome can usually  nurse, and many can breastfeed successfully. Refer infants with  hypotonia, slow feeding, choking, or recurrent respiratory symptoms for radiographic swallowing assessment.

• TSH–check on results of state-mandated screening at birth. Add TSH if the state-mandated screening only included T4.

• Newborn hearing screen – auditory brainstem response (ABR) or otoacoustic emission (OAE) – to assess for hearing loss. Discuss risk for respiratory infections.

• Discuss complementary and alternative therapies.

• Discuss cervical spine positions, especially for anesthesia,  surgical or radiologic procedures. Review signs and symptoms of myelopathy. If myelopathic signs exist, obtain neck X-rays (C-spine).

• Eye exam for cataracts.

• 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. 

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Infant (1- 12 Months)

• Review chromosome analysis; genetic counseling, if not already done.  Discuss chances of having another child with Down syndrome.

• Use typical growth charts from Centers for Disease Control (CDC), available at  www.cdc.gov/growthcharts. Use weight/height assessment, as well.

• Radiographic swallowing assessment if marked low muscle tone, slow feeding, choking with feeds, recurrent or persistent respiratory symptoms, failure to thrive. Consider feeding therapy referral, if needed.

• At one year of age begin to check hemoglobin count annually. Include (a) ferritin and CRP or (b) reticulocyte hemoglobin if there is a concern for a diet low in iron.

• Eye exam for cataracts, nystagmus and strabismus by 6 months if not done at birth.

• Ophthalmology referral if needed for nasolacrimal duct obstruction.

• Delayed or irregular dental eruption, hypodontia is common. First dental visit by one year.

• If constipation present, evaluate for limited diet or fluids, hypotonia, hypothyroidism, gastrointestinal malformation, or Hirschsprung  disease.

• Discuss cervical spine positions, especially for anesthesia or surgical or radiologic procedures.

• Review signs and symptoms of myelopathy. If myelopathic signs exists, obtain neck X-rays (C-spine).

• Thyroid function tests at six and 12 months (TSH).

• If a heart condition is identified, monitor for signs and symptoms of congestive heart failure, subacute bacterial endocarditis prophylaxis (SBE), as indicated.

• Well child care: immunizations including influenza.

• Newborn hearing screen follow-up and assessment by three months. Audiology evaluation at six months and every six months until “ear specific testing is accomplished and normal,” at which point hearing screens can be done on an annual basis. Review signs and symptoms for obstructive sleep apnea.

• Discuss Early Intervention, including speech therapy, and refer for enrollment in local program, if not done already. Apply for Supplemental Security Income (SSI), depending on family income.

• Consider estate planning and custody arrangements; continue family support. 

• Discuss complementary and alternative therapies.

• Referral to local Down syndrome parent group or family support and resources, as indicated. Referral to NDSS. 

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Ages 1 – 5

• Review chromosome analysis; genetic counseling, if not already done.

• Discuss chances of having another child with Down syndrome, if not already done.

• If constipation present, evaluate for limited diet or fluids, hypotonia, hypothyroidism, gastrointestinal malformation, or Hirschsprung disease.

• Hemoglobin count annually. Include (a) ferritin and CRP or (b) reticulocyte hemoglobin if there is a concern for a diet low in iron

• Thyroid function tests annually (TSH).

• Review signs and symptoms of myelopathy. If myelopathic signs exist, obtain radiograph of C-spine. Contact physician if change in gait, change in the use of arms or hands, change in bladder function, neck pain, head tilt, torticollis, or new-onset weakness. (Note: Some athletic organizations might require a radiograph of C-spine for entry and participation.)

• Trampoline use should be avoided in all children with or without Down syndrome under age six and only under professional supervision over age six.

• Hearing exam every six months until normal bilateral ear-specific test. At that point, hearing exams should be done annually.

• Refer to Ears-Nose-Throat specialist for any abnormal hearing exam.

• Review signs and symptoms for obstructive sleep apnea. Sleep study for everyone by the age of four regardless of presence or absence of symptoms.

• Referral to pediatric ophthalmologist or ophthalmologist with expertise in Down syndrome annually.

• If a heart condition is identified, monitor for signs and symptoms of  congestive  heart failure, subacute bacterial endocarditis prophylaxis (SBE), as indicated.

• Use typical growth charts from Centers for Disease Control (CDC), available at  www.cdc.gov/growthcharts. Use body-mass index (BMI) or weight/height measurements to assess weight proportionality.

• For a child on gluten containing diet, review for symptoms of celiac disease  and obtain quantitative IgA and TTG-IgA.

• Delayed or irregular dental eruption, hypodontia is common.

• Establish optimal dietary and physical exercise patterns.

• Encourage and model use of accurate terms for genitalia and other body parts any times these parts are discussed or examined. Remind person with Down syndrome that the only reason that anyone should be looking at or touching private body parts is for health (doctor office visits) or hygiene (bathing or showering).

• Well child care: immunizations; If chronic cardiac or pulmonary disease, give 23-valent pneumococcal vaccine age > two years.

• Review behavior and social progress, with particular attention to signs and symptoms of ADHD, autism, and other psychiatric/behavioral problems

• Early Intervention: speech therapy, physical therapy, occupational therapy. Discuss complementary and alternative therapies.

• Referral to local Down syndrome parent group or family support and resources, as indicated. Referral to NDSS. 

 

 

Ages 5 – 13

• Thyroid function test annually (TSH).  Hemoglobin count annually. Include (a) ferritin and CRP or (b) reticulocyte hemoglobin if there is a concern for a diet low in iron or if hemoglobin < 11g).

• Review signs and symptoms of myelopathy. If myelopathic signs exists, obtain neck X-rays (C-spine). Contact physician if change in gait, change in the use of arms or hands, change in bladder function, neck pain, head tilt, torticollis, or new-onset weakness. (Note: Athletic organizations might require a C-spine for entry and participation.)

• Trampoline use should be avoided in all children with or without Down syndrome under age six and only occur under professional supervision over age six.

• Use typical growth charts from Centers for Disease Controls (CDC), available at  www.cdc.gov/growthcharts. Use body-mass index (BMI) to assess weight proportionality.

• Low calorie, high fiber diet; regular exercise. Consider referral to a dietician, especially for individuals who are “overweight” or “obese.”

• Auditory testing (annually).

• Monitor for obstructive airway; sleep apnea. Review signs and symptoms for obstructive sleep apnea.

• If a heart condition is identified, individualize cardiology follow-up on basis of defect.  

• Eye examination (every two years).

• For child on diet containing gluten, review for symptoms of celiac disease  and obtain IgA and TTG-IgAif symptoms present.

• Review behavior and social progress.

• Discuss self-help skills, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), wandering off, transition to middle school.

• Discuss physical and psychosocial changes through puberty, need for gynecologic care in the pubescent female. Talk to adolescents and their families about the recurrence risk of Down syndrome if they were to become pregnant. Birth control and prevention of sexually transmitted diseases should be discussed with patients and their families. Sexuality education should be emphasized.

• Review dermatologic issues.

• Discuss complementary and alternative therapies. Continue speech therapy, physical therapy, occupational therapy, as needed.

• Referral to local Down syndrome parent group or family support and resources, as indicated. Referral to NDSS. 

 

Ages 13 – 21

• hyroid function test annually (TSH).

• Annual ear-specific auditory testing.

• Annual Review signs and symptoms of myelopathy. If myelopathic signs exists, obtain neck X-rays (C-spine). Contact physician if change in gait, change in the use of arms or hands, change in bladder function, neck pain, head tilt, torticollis, or new-onset weakness. (Note: Some athletic organizations might require a radiograph of the C-spine for entry and participation.)

• Hemoglobin count annually. Include (a) ferritin and CRP or (b) reticulocyte hemoglobin. (CHr if there is a concern for iron deficiency.

• Review signs and symptoms for obstructive sleep apnea.

• Review for symptoms of celiac disease and obtain IgA and TTG-IgA if symptoms present.

• Review behavior and social progress.

• Examine annually for acquired mitral and aortic valvular disease in older patients with Down syndrome.

• Ophthalmologic exam, looking especially for keratoconus and cataracts (every three years).

• Use typical growth charts from Centers for Disease Controls (CDC), available at  www.cdc.gov/growthcharts. Use body-mass index (BMI) to assess weight proportionality. Maintain healthy diet and structured exercise program.

• Continue speech and language therapy, as indicated.

• Facilitate transition: guardianship, financial planning, behavioral problems, school placement, vocational training, independence with hygiene and self-care, group homes, work settings.

• Discuss sexual development and behaviors, contraception, sexually transmitted diseases, recurrence risk for offspring.

• Discuss physical and psychosocial changes through puberty, need for gynecologic care in the pubescent female.

• Review signs and symptoms for obstructive sleep apnea.

• Referral to local Down syndrome parent group or family support and resources, as indicated. Referral to NDSS.

 

Adult

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.)  

 

• 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 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).  

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Publications: Download Aging and Down Syndrome: A Health & Well-Being Guidebook

 

 

This information is provided by the National Down Syndrome Society.