Because the condition is so rare, Angelman syndrome is frequently misdiagnosed asautismorcerebral palsy.
Those affected can live normal lifespans but will invariably require lifelong care.
Those characteristics can be broadly classified as physical, developmental, behavioral, and neurological.
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This results in microcephaly, a condition in which the brain is abnormally small.
Puberty and fertility in both males and females are not affected.
Obesityis also common, most especially in adult women.
As the child gets older, the impairment will become more apparent.
Generally speaking, scores below 70 represent some degree of learning or developmental disability.
Further compounding these limitations is the almost total absence of speech and words.
Other developmental and intellectual deficits include:
Despite these limitations, Angelman syndrome is not a progressive disease.
Behavioral Characteristics
Perhaps the most striking characteristic of Angelman syndrome is happiness.
Children with Angelman syndrome will often be hyperactive and have extremely short attention spans.
The laughter or smiling will often be prolonged, unprovoked, and, at times, inappropriate.
The chronic lack of sleep may further enhance the underlying hyperactivity.
Other behavioral signs include:
As the child gets older, some of these behaviors will begin to moderate.
As adulthood approaches, hyperactivity and poor sleep patterns can often subside or disappear entirely.
As a result, movements are often jerky and accompanied by fine tremors in the arms and legs.
Children will often have a stiff gait and walk with their elbows raised and wrists bent.
In around 10 percent of cases, a child will not be able to walk unaided.
Another characteristic neurological symptom isseizures.
These tend to first appear when the child is two to three years of age.
If this happens, Angelman syndrome will invariably occur.
With that being said, as many as 10 percent of cases have no known cause.
Additional investigations may be needed to differentiate Angelman syndrome from disorders with similar characteristics.
Treatment
There is no cure for Angelman syndrome and no way to reverse the genetic defect.
No single anticonvulsant has proven effective in treating all seizure types.
Physical therapy, along with supportive ankle braces, can help a child achieve functional mobility.
It also aids in maintaining joint flexibility and preventing stiffness.
Verbal communication can remain a significant, long-term challenge even into adulthood.
GERD can often be controlled with diet, antacids, andproton pump inhibitors (PPIs).
With that being said, there is no definite course to the disorder.
Some people may experience profound impairment, while others will be able to develop functional social and communication skills.
What is characteristic of all children with Angelman syndrome is a general state of happiness and contentment.
They enjoy play and human contact and exhibit a profound desire for personal interaction and affection.
Doing so can offer you greater insights into your current and future needs than any book could.
Angelman Syndrome Foundation.What Is Angelman Syndrome?Aurora, Ilinois.
