The OPEN minute newsletter / Down Syndrome
August 1, 2021

Down Syndrome

Let’s imagine a 2 month-old baby with Down syndrome comes to your office. You note facial features that are consistent with Down syndrome. You examine the baby further for other features of this syndrome and start to develop a plan for future management.

First, what are the typical features of children with Trisomy 21 (Down syndrome)?

Characteristics of Down Syndrome

  • Craniofacial:
    • upslanting palpebral fissures
    • flat facies
    • small ears
    • brachycephaly
    • macroglossia
    • epicanthal folds
    • Brushfield spots
  • Intellectual disability
  • Hypotonia
  • Congenital heart disease
  • Extremities: simian crease; short broad hands; clinodactyly, hypoplastic middle phalanx and single crease of 5th finger
  • Many associated conditions/risks:


  • Meiotic nondisjunction in 95% of sporadic cases; 3-4% as a result of an unbalanced translocation (so check parents for a balanced translocation) and 1-2% mosaic with a mix of two cell lines
  • Etiology is not affected by paternal age; risk increases with maternal age
  • 1% recurrence risk if already have one baby with Down syndrome (higher if translocation)

Management Plan
A comprehensive management plan is essential once the diagnosis is confirmed by chromosomal testing:
Echocardiogram (ECHO) in first month on all children
Managing hearing loss

  • For newborns: Universal newborn hearing screen
  • At 6 months: recheck hearing screen – Auditory Brainstem Response (ABR)
  • Refer to ENT if tympanic membrane (TM) is not clearly visible
  • ENT should follow the patient every 3-6 months until a clear TM is visualized and can be followed by the pediatrician
  • Tympanometry may be needed in the pediatrician’s office to aid in detecting middle ear disease
  • Every 6 months: Check hearing/tympanometry until ear specific testing is available at about 4 years of age

Managing blood disorders:

  • At birth: Complete Blood Count (CBC) to evaluate for transient myeloproliferative disorder (TMD) and polycythemia
  • At 1 year of age, and annually: check hemoglobin
    For patients at increased risk for iron deficiency based on history, or a Hemoglobin <11, then check annual ferritin with C-Reactive Protein (CRP)

Managing thyroid disease

  • Check thyroid function:
  • At birth
  • At 6 months of age
  • At 1 year of age, and then annually

Managing vision problems
Ophthalmology referral to monitor for cataracts, strabismus, nystagmus:

  • Within first 6 months of age
  • Then annually

Atlanto-axial instability

  • Current evidence does not support performing routine screening radiographs for assessment of potential atlanto-axial instability in asymptomatic children
  • Advise parents that contact sports such as football, soccer, gymnastics places child at increased risk spinal cord injury
  • If symptomatic, first check plain film in neutral position only, and then consider flexion/extension films only if that is normal. If an abnormality, then referral to specialist is indicated.
  • At least twice a year review c-spine positioning precautions during anesthesia, radiographic procedures, surgeries

Managing disrupted sleep patterns and sleep disorders
By 4 years of age, obtain sleep study on all children with Down syndrome since there is a poor correlation between parent report and polysomnogram results
The natural history of individuals with Trisomy 21

  • Muscle tone tends to improve with age; rate of development progress slows with age
  • IQ range is generally low; social performance is usually beyond that expected for mental age
  • Sleep-related upper airway obstruction occurs in 50-70%
  • Slow growth
  • Median age of death is about 60 years

Hope this helps!
Best regards,
Eyal Ben-Isaac, MD, Children’s Hospital Los Angeles

References and Resources
OPEN Recommended Reading

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