Saturday, May 26, 2012

Down syndrome

Table of Contents

As children with Down syndrome grow and become aware of their limitations, they may also feel frustration and anger.

Many different medical conditions are seen in people with Down syndrome, including:

  • Birth defects involving the heart, such as an atrial septal defect or ventricular septal defect
  • Dementia may be seen
  • Eye problems, such as cataracts (most children with Down syndrome need glasses)
  • Early and massive vomiting, which may be a sign of a gastrointestinal blockage, such as esophageal atresia and duodenal atresia
  • Hearing problems, probably caused by regular ear infections
  • Hip problems and risk of dislocation
  • Long-term (chronic) constipation problems
  • Sleep apnea (because the mouth, throat, and airway are narrowed in children with Down syndrome)
  • Teeth that appear later than normal and in a location that may cause problems with chewing
  • Underactive thyroid (hypothyroidism)

Signs and tests

A doctor can often make an initial diagnosis of Down syndrome at birth based on how the baby looks. The doctor may hear a heart murmur when listening to the baby's chest with a stethoscope.

A blood test can be done to check for the extra chromosome and confirm the diagnosis. See: Chromosome studies

Other tests that may be done include:

  • Echocardiogram to check for heart defects (usually done soon after birth)
  • ECG
  • X-rays of the chest and gastrointestinal tract

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

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Review Date: 10/18/2010
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)