Part I: Clinical Practice Guidelines With Down Syndrome From Birth to 12 Years

Susan N. Van Cleve, MSN, RN, CPNP; William I. Cohen, MD


J Pediatr Health Care. 2006;20(1):47-54. 

In This Article

1 Year to 5 years: Early Childhood


Review parental concerns with special attention to diet, elimination, and sleep.

  1. Assess for problems with swallowing, sensitivity to different textured foods, or inability to progress to table foods; refer to a feeding specialist and a speech and language or occupational therapist for further evaluation if indicated.

  2. If recurrent constipation is present, consider dietary changes (increased fluids, more fruits and vegetables) as well as treatment with an osmotic agent such as polyethylene glycol.

  3. Inquire about snoring or restless sleep, an indication of obstruction. Refer to an otolaryngologist or sleep specialist for upper airway obstruction or apnea.

  • Review risk for serous otitis media with hearing loss.

  • Review audiologic and thyroid function testing, ophthalmologic care, and dental care.

  • Review developmental progress, including level of functioning and areas of parental concern. Developmental delay is expected. Review early intervention services and current programming:

    1. Yearly developmental assessments are performed, and each child should have an Individualized Family Service Plan from birth to 3 years and an Individual Education Plan from 3 years to the end of schooling.

    2. Early intervention providers may be teaching the child and parents the use of Total Communication techniques to facilitate the child's speech and language ( Total Communication is a way of teaching children to speak and use sign language simultaneously. This method helps children with DS bridge communication with sign language until the development of speech and language is achieved.

  • Monitor for behavior problems or concerns. Explore parental and sibling adjustments, socialization, and recreation.

Physical Examination

  • Growth parameters (height, weight, and head circumference up to 3 years) should be charted as previously described. Calculate body mass index (BMI) and compare with norms for non-DS children. Although BMI norms for DS children do not exist, this calculation will provide clinicians with an indication of the child's risk for being overweight and the possible need for nutrition and exercise interventions.

  • A general neurologic, neuromotor, and musculoskeletal examination should be performed with every routine visit, including evaluation for signs of spinal cord compression: deep tendon reflexes, gait, and Babinski sign. A vulvular examination for girls should be performed as recommended in routine pediatric care.

Laboratory Tests and Consults

  • Thyroid function tests; free T4 and TSH yearly.

  • Behavior auditory testing every 6 months to 3 years of age, then annually. This method tests both ears simultaneously. Test each ear individually when the child is able to tolerate this form of evaluation.

  • Yearly ophthalmologic examinations if eyesight is normal or more frequently if indicated.

  • Continue SBE prophylaxis in children where indicated.

  • Between 3 to 5 years of age, lateral cervical spine x-rays (neutral view, flexion, and extension) to rule out atlanto-axial instability. The radiologist should measure the atlanto-dens distance and the neural canal width. X-rays should be taken at an institution accustomed to taking and reading this type of x-ray. There has been ongoing discussion among experts regarding this recommendation (Committee on Sports Medicine and Fitness, AAP, 1995), but at present, this screening recommendation remains in place (Committee on Genetics, 2001; Cohen, 1999).

  • Initial dental examination at 2 years of age with follow-up every 6 months.

  • Between 2 to 3 years of age, screen for celiac disease with total IgA and tissue transglutaminase.

Anticipatory Guidance

  • Discuss the importance of a well-balanced diet with an emphasis on high fiber, fruits, and vegetables. Total caloric intake should be below the recommended daily allowance for children of similar height and age. Routine exercise and recreational programs should be established early.

  • Encourage good dental hygiene with twice-a-day tooth brushing.

  • Continue SBE prophylaxis in children where indicated.

  • Continue early intervention programming until 3 years and then developmental preschool programming until 5 years of age. Encourage the development of self-care skills (i.e., toileting, dressing, and grooming).

  • Monitor the family's need for supportive care or counseling, respite care, and behavior management techniques.


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