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Possible medical needs - Down syndrome

Heart
  • Approximately 40% have a heart defect
  • Surgery is sometimes required
  • After successful surgery, most children with DS have no limitations in activity, but this should be confirmed with family 
Gastro-intestinal (GI)

Some individuals may have one or more of the following:

  • Partial or total block in the first part of the intestine after stomach (Duodenal atresia)
  • Esophagus not connected to stomach (Esophageal atresia)
  • Reflux: (GERD or gastroesophageal reflux)
  • Constipation
    • Due to the decreased muscle tone of intestinal tract
  • Hirschsprung disease
    • This is caused by the lack of nerve cells in part of colon just above rectum and this lack impairs intestines ability to move stool to rectum.
  • Celiac disease
    • A condition where the body can’t process a protein in wheat and other grains known as gluten.
  • Umbilical hernia
    •  Gap between the muscle under the skin of the abdomen allowing belly button to protrude
Epilepsy
  • Seizures occur in 5-10% of individuals with Down syndrome.
Orthopedic problems
  • Neck instability (atlantoaxial joint) found in 15% of individuals with Down syndrome.
    • Caused by underdevelopment of a bone called the odontoid process that usually anchors the head in position, resulting in too much movement between first and second vertebrae in neck
    • May be at risk of spinal cord damage
  • Scoliosis (abnormal curvature of the spine) 
  • Hip instability
  • Knee dislocation
  • Foot problems
    • Flat feet
    • Ankles turning in and/or out
Ears, Nose, and Throat
  • Increased upper respiratory infections
    • This is secondary to having a smaller midface, smaller sinuses, smaller nasal passages, and a decreased immune response.
  • Hearing loss
    • The risk of hearing loss is high (due mostly to middle ear problems) and regular audiologic testing is recommended. 
    • Can cause speech delay
Sleep apnea
  • May be due to the obstruction of upper airway by large adenoids and/or tonsils.
Blood problems
  • Leukemia in 1% of individuals- cancer of white blood cells
    • Most leukemia occurs in first five years of life
    • AML (acute myelogenous leukemia)
    • ALL (acute lymphocytic leukemia)
    • Transient leukemia
Thyroid problems
  • Hypothyroidism- low thyroid levels is more common
  • Can have hyperthyroid
Eyes
  • Cataracts
  • Blocked tear ducts
  • Strabismus (eyes turning in or out)
  • Blepharitis (chronic infection of the eyelid)
  • Nystagmus (repetitive involuntary movement of the eyeballs)
  • Visual acuity
    • Nearsightedness
    • Farsightedness
    • Astigmatisms
    • About 50% of children with DS require corrective lenses.
      • If you have a new student with DS who is not in glasses, check with parents to ensure vision is regularly tested.  
Dental
Delayed eruption of teeth, missing teeth and small teeth with small roots are common.
Skin
Mottled skin or cutis marmorata is very common in babies. In school age children, the skin is often dry and coarse, and atopic dermatitis (red, scaly and itchy skin) is common. The skin on palms and soles often becomes very thickened.
Obsessive / compulsive behaviors
  • This is an ongoing area of study.
  • Obsessive behaviors seem to be common in young children with Down syndrome and are thought to be developmentally important for their learning.
  • However, some studies show that Obsessive Compulsive Disorder may be more common in older individuals with Down syndrome than in the general population but is still not a common feature.
Autism spectrum disorder
  • Autism is seen in ~ 5-7% of children with Down syndrome
  • The diagnosis is usually made at a later age (6-8 years of age). 
  • Interventions for autism in individuals with Down syndrome are same as the general population and are important to identify as early as possible.