Pediatric Angelman Syndrome

Pediatric Angelman Syndrome

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Summary

Angelman syndrome is a rare genetic disorder that causes developmental disabilities, neurological problems and, sometimes, seizures 

Expanded Overview

Angelman syndrome is a genetic (present at birth) disorder that occurs in about 1 in every 15,000 babies. Children with this condition are often misdiagnosed as having cerebral palsy or autism, since they can have similar symptoms. 

Symptoms

Developmental delays associated with Angelman syndrome are typically the first signs of the condition. These delays usually occur between 6 and 12 months of age and include not reaching typical milestones such as crawling or babbling. Seizures can begin around age 2 or 3, if they occur. 

Other symptoms of this condition include:

  • Difficulty walking, moving or balancing well
  • Frequent smiling and laughter
  • Happy, excitable personality
  • Intellectual disability
  • No speech or minimal speech

Treatment

People with Angelman syndrome typically live normal lifespans, but there is no cure for the disorder. Patients with AS often benefit from speech-language therapy, physical therapy, occupational therapy, behavioral therapy, and neurological services.

Resources

More information is available through the Angelman Syndrome Foundation at www.angelman.org or the Angelman, Rett, & Prader Willi Syndromes Consortium through the National Institutes of Health.

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