Down syndrome secondary prevention

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Secondary Prevention

Postnatal

The American Academy of Pediatrics, among other health organizations, has issued a series of recommendations for screening individuals with Down Syndrome for particular diseases. These guidelines enable health care providers to identify and prevent important aspects of DS. All other typical newborn, childhood, and adult screening and vaccination programs should also be performed.

Persons with Down syndrome need to be closely screened for certain medical conditions. They should have:

• Eye exam every year during infancy
• Hearing tests every 6 - 12 months, depending on age
• Dental exams every 6 months
• X-rays of the upper or cervical spine between ages 3 - 5 years
• Pap smears and pelvic exams beginning during puberty or by age 21
• Thyroid testing every 12 months

Birth

Initial examination of newborns with DS should pay particular attention to certain physical signs which are more commonly found in DS. Evaluation of the red reflex can help identify congenital cataracts. Movement of the eyes should be observed to identify strabismus. Constipation should raise concerns for Hirschsprung's disease and feeding problems should prompt intense education to ensure adequate input and nutrition.

At birth, an ultrasound of the heart (echocardiogram) should be done immediately in order to identify congenital heart disease (this should be carried out by someone with experience in peadiatric cardiology). A complete blood count should be done in order to identify pre-existing leukemia. A hearing test using brainsteam auditory evoked responses (BAERS) testing should be performed and any hearing deficits further characterized. The thyroid function should also be tested. Early Childhood Intervention should be involved from birth to help coordinate and plan effective strategies for learning and development.

Childhood and adulthood

As children with DS grow, their progress should be plotted on a growth chart in order to detect deviations from expected growth. Special growth charts are available so that DS children can be compared with other children with DS. Thyroid function testing should be performed at 6 months and 12 months of age as well as yearly thereafter. Evaluation of the ears for infection as well as objective hearing tests should be performed at every visit. Formal evaluation for refractive errors requiring glasses should be performed at least every two years with subjective vision assessments with each visit. After the age of three, an x-ray of the neck should be obtained to screen for atlanto-axial instability. As the child ages, yearly symptom screening for obstructive sleep apnea should be performed.