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Learn more about angelman physical characteristics

Not all people with AS will have all of these physical characteristics and/or symptoms. 

Consistent Features: Occur in 100% of children

Developmental delay, functional limitations
  • Actual cognitive abilities may be higher than testing indicates because of the attention deficits, hyperactivity, and lack of speech and motor control.
  • May differ from others with significant intellectual disability because of their ability to understand some language
  • Most need support to live independently as adults. 
Movement and balance disorders
  • A small number of children are unable to walk (10%).
  • Children with AS who learn to walk often start between ages 2.5 and 6 years.
  • Gait may appear jerky and stiff.
  • Forearms may be flexed and/or pronated (palms down).
  • Tremors occur in limbs.
  • Movements may be unsteady, clumsy, quick, or jerky.  They may tend to lean or lurch forward.
  • Increased motor activity is present.
  • Tongue is often out of mouth; drooling and a wide mouth are present.

Unique behavior
  • Apparent happy demeanor. This behavior may indicate something other than happiness, including pain.
  • Easily excitable, frequent laughter
  • Often, hand flapping or waving
  • Short attention span
  • Some behavior changes may occur due to certain medications.
Speech impairment with no words or minimal words
  • Receptive and non-verbal communication skills higher than verbal ones
  • Augmentative and Alternative Communication (AAC) devices may improve communication.

Frequent Findings: Occur in 80% of children

Smaller head

  • Usually have a smaller head
Seizures
  • Usually start before 3 years of age
  • Seizures become less severe with age but will continue through life
    • Any type of seizure may occur
    • May require multiple medications
    • May be hard to recognize seizures vs. other movements
    • Abnormal EEG

Associated Findings: Occur in 20-80% of children

General
  • Drooling, chewing/mouthing behaviors
  • Sensitive to outdoor and indoor temperatures
  • If too warm, may be irritable and more active. Skin gets warm.
  • Abnormal sleep/wake cycle and less need for sleep
  • Fascination with water, crinkly items, papers, and plastic
Food related behaviors
  • May eat nonfood items
  • Apparent increased appetite
  • High interest in food may lead to obesity
Weight Issues
  • Infants and young children may have feeding problems and children with Angelman are often thin and have low subcutaneous fat
    • May be due to poor oral-motor coordination
    • May have gastroesophageal reflux (GERD)
  • By late childhood, obesity can develop
    • May occur with age when less mobile and active
    • Ensure activity to help curb obesity
Scoliosis
  • Exercises and activities to help prevent scoliosis may be a part of their physical therapy plan
  • Some children may have alternative therapies, such as chiropractic care, to assist in the treatment of their scoliosis
Constipation
  • May require a regular laxative
Hypopigmentation on skin and eye
  • Sensitive to sun  - wear sun protection