You are currently viewing Angelman Syndrome :‎ Medical Notes & Mindmap

Angelman syndrome is a rare genetic condition that affects the nervous system. It’s marked by intellectual and developmental disabilities, severe speech problems, problems with balance and movement, and unique facial features. People with Angelman syndrome can also have seizures and have trouble with their behaviour.

Angelman Syndrome :‎ [MEDNOTES+MINDMAP]

 

  • Definition
    • A rare genetic disorder that affects the nervous system and causes developmental delays, intellectual disability, and behavioral problems
    • Characterized by problems with the 15th chromosome
  • Epidemiology
    • Estimated to occur in 1 in 15,000 to 20,000 live births
    • More common in females and people of European descent
    • Can affect individuals of any race or ethnicity
  • Natural history
    • Typically becomes apparent in the first year of life
    • Problems with feeding, sleeping, and motor development
    • Seizures and difficulty speaking and communicating
    • Behavioral issues such as hyperactivity and repetitive behaviors
  • Classification/Types/Stages
    • Paternal uniparental disomy (UPD)
    • Maternal deletions
    • Imprinting defects
    • Mild, moderate, and severe
      • Mild: mild developmental delays, relatively normal physical development
      • Moderate: more severe developmental delays, some physical abnormalities
      • Severe: severe developmental delays, severe physical abnormalities
  • Risk Factors
    • Mutation or deletion of the UBE3A gene
    • Imprinting of the UBE3A gene (inherited from mother)
  • Etiology/Causes
    • Genetic mutation or deletion of the UBE3A gene located on chromosome 15
    • Imprinting of the UBE3A gene (inherited from mother)
  • Signs
    • Delayed development of motor skills and speech
    • Balance and coordination issues
    • Seizures
    • Movement and behavioral abnormalities
  • Symptoms
    • Intellectual disability
    • Delayed development of motor skills and speech
    • Balance and coordination issues
    • Seizures
    • Movement and behavioral abnormalities
  • Pathology/Pathogenesis
    • Abnormalities in the UBE3A gene lead to impaired brain development and function, specifically in the hippocampus and cerebellum.
    • This leads to the various signs and symptoms of Angelman Syndrome.
  • Diagnosis
    • Physical examination
    • Genetic testing (chromosome 15q11-q13 microdeletion or UBE3A gene mutation)
    • EEG (electroencephalogram) to measure brain waves
  • Tests Required
    • Developmental assessment
    • Speech and language evaluation
    • Neurological evaluation
    • Genetic testing
  • Associated with
    • Chromosome 15q11-q13 microdeletion
    • UBE3A gene mutation
    • Maternal uniparental disomy (both copies of chromosome 15 come from the mother)
  • Similar diseases/syndromes
    • Prader-Willi Syndrome
    • Rett Syndrome
    • Fragile X Syndrome
  • Treatment
    • Early intervention services for developmental delays
    • Physical therapy
    • Speech therapy
    • Medications for seizures and sleep problems
    • Assistive technology for communication

Dr. Arin Nandi

Passionate About Medical Science & Helping Future Doctors Achieve Top Ranks In Medical Exams. He is professionally a dentist as well as a public health expert from JIPMER working in govt.health department
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