Angelman syndrome

Understanding AS
Angelman syndrome (AS) is a neuro-genetic disorder that occurs in one in 15,000 live births. AS is often misdiagnosed as cerebral palsy, autism or Prader-Willi syndrome. Due to these similarities, misdiagnosis is a prevalent problem.

Late or misdiagnosis may cause individuals to lose opportunities for early intervention programs, resources, personalized support and life-saving treatments.

That’s why it’s important to increase awareness and understanding of Angelman syndrome, a disorder that occurs in roughly 1 in 15,000 live births.

Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care.

The Angelman Syndrome Foundation website is the best place to keep abreast of current information regarding research, education, general information and therapies for Angelman syndrome. If you have any questions or would like additional information please email the ASF at info@angelman.org.

Diagnosis
50% of individuals with Angelman syndrome are originally misdiagnosed.

A blood test can detect up to 80-85% of individuals with Angelman syndrome by identifying whether the UBE3A gene is functioning properly.

For the remaining 15-20% of individuals, an experienced clinician who is familiar with Angelman syndrome can provide a clinical diagnosis.

Proper diagnosis is key to providing the best treatment to individuals with neurogenetic disorders – disorders that share similar symptoms including developmental delays, seizures, motor issues, and lack of cooing, babbling, or speech.

Symptoms of Angelman syndrome:

  • Developmental delays – vary from individual to individual
  • Seizures
  • A happy demeanor – frequent laughing, smiling and excitability
  • In infants 0-24 months:
    • Lack of cooing or babbling
    • Inability to support one’s head, pull oneself up to stand, and delayed motor skills
  • In young children:
    • Lack of speech, although some develop the ability to speak a few words
    • Delayed ability to walk, unstable gait or balance issues

 

Facts About Angelman Syndrome
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