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Down Syndrome

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Signs, Symptoms and Complications

There are many characteristic signs and symptoms associated with Down syndrome. Not every child will have every one, and the degree to which they are affected may vary greatly. Some physical signs and symptoms include:

  • A small head with small, low-set ears
  • Slanting eyes, a broad flat face, and a short nose
  • A small mouth and protruding tongue
  • Short, small but broad hands and feet and a single crease across the palm
  • Short fingers and an abnormal bone in the 5th (pinky) finger
  • Poor muscle tone (hypotonia)
  • Hyperflexible joints
  • Atlantoaxial instability (a malformation of the top of the spine)

Problems with thinking and learning (cognitive impairment) and intellectual disability range from mild to moderate and may include:

  • A short attention span
  • Hyperactivity
  • Poor judgment
  • Disruptive or impulsive behavior
  • Delays in language and speech development
  • Anxiety
  • Sleep difficulties

Complications of Down syndrome vary greatly. Some may be present at birth, some may arise during childhood, others during adulthood, and others may never be experienced. Health practitioners and family members must be aware of these potential complications as those with DS may or may not be able to clearly communicate their symptoms and/or may express them in unexpected ways.

Complications can include:

  • Celiac disease
  • Dental disease
  • Diabetes
  • Food sensitivities and constipation
  • Gastrointestinal abnormalities and obstructions (5-10%)
  • Hearing loss (75%)
  • Heart defects and disease (close to 50%)
  • Increased incidence of respiratory and ear infections, colds, bronchitis, tonsillitis, and pneumonia
  • Increased risk of leukemia
  • Premature aging, loss of cognitive abilities, and Alzheimer disease-type symptoms in those under 40 years of age
  • Seizure disorders
  • Sleep apnea (50-75%)
  • Spinal cord compression
  • Thyroid disease (about 15%)
  • Visual problems, including cataracts (about 60%)

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