Neonatal (Birth to one month)

History: Review parental concerns. Was there a prenatal diagnosis of DS? With vomiting or absence of stools, check for gastrointestinal tract blockage (duodenal web or atresia, or Hirschsprung disease); review feeding history to ensure adequate caloric intake; any concerns about hearing or vision? Inquire about family support.

Exam: Pay special attention to cardiac examination; cataracts (refer immediately to an ophthalmologist if the red reflex is not seen); otitis media; subjective assessment of hearing; and fontanelles (widely open posterior fontanelle may signify hypothyroidism). Exam for plethora, thrombocytopenia.

Lab and Consults: Chromosomal karyotype; genetic counseling; hematocrit or complete blood count to investigate plethora (polycythemia) or thrombo-cytopenia (possible myeloproliferative disorders); thyroid function test-check on results of state-mandated screening; evaluation by a pediatric cardiologist including echocardiogram (even in the absence of a murmur); reinforce the need for subacute bacterial endocarditis (SBE) prophylaxis in susceptible children with cardiac disease; refer for auditory brainstem response (ABR) or otoacoustic emission (OAE) test to assess congenital sensorineural hearing at birth or by 3 months of age. Refer for a pediatric ophthalmological evaluation by six months of age for screening purposes. Refer immediately if there are any indications of nystagmus, strabismus or poor vision. If feeding difficulties are noted, consultation with feeding specialist (occupational therapist or lactation nurse) is advised.

Developmental: Discuss value of Early Intervention (infant stimulation) and refer for enrollment in local program. Parents at this stage often ask for predictions of their child's abilities: "Can you tell how severe it is?" This is an opportunity to discuss the unfolding nature of their childÕs development, the importance of developmental programming, and our expectation of being able to answer that question closer to two years of age.

Recommendations: Referral to local DS parent group for family support, as indicated.

Infancy (1 - 12 months)

History: Review parental concerns. Question about respiratory infections (especially otitis media); for constipation, use aggressive dietary management and consider Hirschsprung disease if resistant to dietary changes and stool softeners. Solicit parental concerns regarding vision and hearing.

Exam: General neurological, neuromotor, and musculoskeletal examination; must visualize tympanic membranes or refer to ear, nose and throat (ENT) specialist, especially if suspicious of otitis media.

Lab and Consults: Evaluation by a pediatric cardiologist including echocardiogram (if not done in newborn period): remember to consider progressive pulmonary hypertension in DS patients with a VSD or atrioventricular septal defect who are having little or no symptoms of heart failure in this age group. Auditory brainstem response test (ABR) by 3 months of age if not performed previously or if previous results are suspicious. Pediatric ophthalmology evaluation by six months of age (earlier if nystagmus, strabismus or indications of poor vision are present). Thyroid function test (TSH and T4), at 6 and 12 months of age. Evaluation by ENT specialist for recurrent otitis media as needed.

Developmental: Discuss early intervention and refer for enrollment in local program (if not done during the neonatal period). This usually includes physical and occupational therapy evaluations and a developmental assessment.

Recommendations: Application for Supplemental Security Income (SSI) (depending on family income); consider estate planning and custody arrangements; continue family support; continue SBE prophylaxis for children with cardiac defects.

Childhood (1 year to 12 years)

History: Review parental concerns; current level of functioning; review current programming (early intervention, preschool, school); ear problems; sleep problems (snoring or restless sleep might indicate obstructive sleep apnea); constipation; review audiologic and thyroid function tests; review ophthalmologic and dental care. Monitor for behavior problems.

Exam: General pediatric and neurological exam including evaluation for signs of spinal cord compression: deep tendon reflexes, gait, Babinski sign. Include a brief vulvar exam for girls. Use Down syndrome growth charts, as well as growth charts for typically developing children. Be sure to plot height for weight on the latter chart.

Lab and Consults: Echocardiogram by a pediatric cardiologist if not done previously; Thyroid function test (TSH and T4) yearly; behavioral auditory testing every 6 months until 3 years of age, then yearly. Continue regular eye exams every year if normal, or more frequently as indicated. Between 3 years and 5 years of age, lateral cervical spine x-rays (neutral view, flexion and extension) to rule out atlanto-axial instability: have the radiologist measure the atlanto-dens distance and the neural canal width. X-rays should be performed at an institution accustomed to taking and reading these x-rays. Initial dental evaluation at two years of age with follow-ups every six months. At 2-3 years of age, screen for celiac disease with IgA antiendomysium antibodies, as well as total IgA. Administer Pneumococcal vaccine at 2 years of age.

Developmental: Enrollment in appropriate developmental or educational program; complete educational assessment yearly, as part of Individualized Family Service Plan (IFSP) for children from birth to 3 years of age, or Individualized Educational Plan (IEP) from age four until the end of formal schooling. Evaluation by a speech and language pathologist is strongly recommended to maximize language development and verbal communication. An individual with significant communication deficits may be a candidate for an augmentive communication device.

Recommendations: Twice daily teeth brushing. Total caloric intake should be below recommended daily allowance (RDA) for children of similar height and age. Monitor for well-balanced, high fiber diet. Regular exercise and recreational programs should be established early. Continue speech therapy and physical therapy as needed. Continue SBE prophylaxis for children with cardiac defects. Monitor the familyÕs need for respite care, supportive counseling and behavior management techniques. Reinforce the importance of good self-care skills (grooming, dressing, and money handling skills).

Adolescence (12 to 18 years)

History: Review interval medical history, questioning specifically about the possibility of obstructive airway disease and sleep apnea; check sensory functioning (vision and hearing); assess for behavioral problems; address sexuality issues.

Exam: General physical and neurological examination (with reference to atlanto-axial dislocation). Monitor for obesity by plotting height for weight on the growth charts for typical children. Pelvic exam if sexually active, only. (See Consults, below.) Perform a careful cardiac exam in adolescents, looking for evidence of valvular disease. Lab and consults: Thyroid function testing (TSH and T4) yearly. Hearing and vision evaluations every year. Repeat screening cervical spine x-rays as needed for Special Olympic participation. Echocardiogram if evidence of valvular disease on clinical exam. Consult with Adolescent Medicine practitioner or a gynecologist experienced in working with individuals with developmental disabilities to address issues of sexuality and/or for pelvic examination for sexually active teenager. Continue twice-yearly dental exams.

Developmental: Repeat psycho-educational evaluations every two years as part of Individualized Educational Plan (IEP). Monitor independent functioning. Continue speech/language therapy as needed. Health and sex education, including counseling regarding abuse prevention. Smoking, drug, and alcohol education.

Recommendations: Begin functional transition planning (age 16). Consider enrollment for SSI depending on family income. SBE prophylaxis needed for individuals with cardiac disease. Continue dietary and exercise recommendations (see childhood, above). Update estate planning and custody arrangements. Encourage social and recreational programs with friends. Register for voting and selective service at age 18. Discuss plans for alternative long term living arrangements such as community living arrangements (CLA). Reinforce the importance of good self-care skills (grooming, dressing, and money handling skills).

Adults (over 18 years)

History: Interval medical history. Ask about sleep apnea symptoms. Monitor for loss of independence in living skills, behavioral changes and/or mental health problems. Symptoms of dementia (decline in function, memory loss, ataxia, seizures and incontinence of urine and/or stool). This may also represent spinal cord compression from atlanto-axial subluxation.

Exam: General physical and neurological examination (with reference to atlanto-axial dislocation). Monitor for obesity by plotting height for weight. Cardiac exam: listen for evidence of mitral valve prolapse and aortic regurgitation: confirm suspicisions with echocardiogram. Sexually active women will need Pap smears every 1-3 years following the age of first intercourse. For women who are not sexually active, single-finger bimanual examination with finger-directed cytology exam. Screening pelvic ultrasound every 2-3 years for women who refuse or have inadequate follow-up bimanual examinations. This may require referral to an Adolescent Medicine practitioner or a gynecologist with experience with individuals with special needs. Otherwise, pelvic ultrasound may be considered in place of pelvic examinations. Breast exam yearly by physician.

Lab and consults: Annual thyroid screening (TSH and T4). Ophthalmologic evaluation every two years (looking especially for keratoconus and cataracts). Repeat cervical spine x-rays as needed for Special Olympic participation. Continue auditory testing every two years. There are two different suggestions for mammography: Dr. Heaton recommends yearly study after age 50; begin at age 40 for women with a first-degree relative with breast cancer. Dr. Chicoine suggests a mammogram every other year beginning at 40, and yearly beginning at 50. Continue twice-yearly dental visits. Mental health referral for individuals with emotional and behavioral changes.

Developmental: Continue speech and language therapy, as indicated. For individuals with poor expressive language skills, consider referral for augmentive communication device. Discuss plans for further programming/vocational opportunities at age 21 or when formal schooling ends. Be aware that accelerated aging may affect functional abilities of adults with DS, more so than Alzheimer disease.

Recommendations: Discuss plans for alternative long term living arrangements such as community living arrangements (CLA). SBE prophylaxis needed for individuals with cardiac disease. Continue dietary and exercise recommendations (see childhood, above). Update estate planning and custody arrangements. Encourage social and recreational programs with friends. Register for voting and selective service at age 18. Reinforce the importance of good self-care skills (grooming, dressing, and money handling skills). Bereavement counseling for individuals who have experienced the loss of an important person in their life, either via death or by other circumstances: sibling moves away after marriage, or goes off to college.

<< Previous page | Next page >>