Angelman Syndrome - Signs and Symptoms

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What were the signs and symptoms associated with your child's Angelman syndrome?

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What are the characteristics, signs, and symptoms of Angelman syndrome?

  • Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months.
  • Seizures often begin between 2 and 3 years of age.
  • Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display the following that can have severe functional deficits:
    • hyperactivity,
    • small head size,
    • sleep disorders,
    • movement and balance disorders
  • Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements.
  • In addition to hyperactivity, a short attention span, and a fascination with water are common.
  • With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives.
  • Adults with Angelman syndrome have distinctive facial features that may be described as "coarse." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.

Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.

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Comment from: JANEEN, 25-34 Female (Caregiver) Published: October 06

My daughter is 28 years old and was diagnosed 10 years ago with Angelman syndrome. She has a 48 degree of scoliosis with 2 curves in her spinal cord which helps her in a way to still be mobile to a certain degree. She has no speech and makes loud screaming noises when excited. When she was younger she smiled and laughed a lot, not so much now. She also had a fascination for water when she was younger. She wants to hug everyone and seems not to know her own strength because her grip is very powerful. She is very lovable and I wish there was something I could do to help her. My heart aches for her each day. I wish medical science can discover a cure for her.

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Comment from: Lexi, Female (Caregiver) Published: June 10

My daughter is 18, she was diagnosed with Angelman syndrome at her 12 month checkup. She was misdiagnosed at first with cerebral palsy. She is loving, caring and full of grace. She started having seizures at the age of 3 and didn't start walking until she was 6 years of age. She depends on me for everything, to getting her dressed, taking her to the bathroom, but most of all, I am her voice.

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