Down Syndrome Guidelines

Updated: Apr 21, 2022
  • Author: Gratias Tom Mundakel, MBBS, DCH; Chief Editor: Maria Descartes, MD  more...
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Guidelines Summary

In 2016, the American College of Obstetricians and Gynecologists updated their guidelines for prenatal screening for Down syndrome. [16]

Guidelines for health supervision of Down syndrome individuals from birth to early adulthood have been published by the American Academy of Pediatrics. [2]  Recommendations include the following:

  • Frequent ear exams and auditory evaluations (annually after early infancy) may need to be performed because of the increased risk for otitis media and secondary hearing loss
  • Monitor for obstructive sleep apnea; all children should be referred for a sleep study by age 4 years
  • Thyroid function testing should be performed in the newborn period, at 6 months, at 12 months, and annually thereafter, because of the high risk for acquired hypothyroidism
  • Monitor for gastroesophageal reflux and swallowing difficulties and for the development of celiac disease
  • Monitor for the development of leukemias in the first few years of life
  • Infants with Down syndrome who have congenital heart disease should be monitored for the development of heart failure and pulmonary hypertension in early infancy; adolescents and adults should be monitored for the development of acquired heart valve disease
  • Annual eye exams are required because of the increased risk for refractive errors
  • Individuals with Down syndrome must be monitored for the development of atlantoaxial instability; evaluation for new-onset signs and symptoms of myelopathy should be performed at every visit
  • Monitor cognitive function and evaluate for behavioral problems, autism, and the development of seizures
  • Parents should be counseled that individuals with Down syndrome are at increased risk for sexual abuse and that the likely perpetrators are people well-known to the child