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:
small head size,
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.