Angelman syndrome
- Article
- 2021-03-02
Angelman syndrome (AS) is a genetic condition that causes neurological and psychological problems, including seizures, difficult behavior, movement disorders and sleep problems. Gastrointestinal, orthopedic and eye problems are also often present. Babies with AS appear normal at birth, but often have feeding difficulties in the first months of life and show a noticeable 6-12 month delay in development. Attacks often start between the ages of 2-3 and occur in 80-85 percent of people with AS. Features that help define the syndrome include a very happy posture with frequent laughter, poor balance, tremors, and minimal to no speech. The condition results from the absence of the UBE3A gene inherited from the mother. The gene provides instructions for a protein that plays a critical role in the normal development and function of the nervous system.
There are four types of Angelman syndrome with problems with chromosomes or mutations in the UBE3A gene. Other children may have a genetic syndrome similar to AS, but caused by a different gene. Dr. Harry Angelman first reported the syndrome in 1965, when he described three children with similar symptoms in his practice.
Therapy
There is currently no specific therapy for Angelman syndrome. The best treatment is to minimize seizures, anxiety, and gastrointestinal problems, and to maximize sleep. Seizures are treated with drugs and diet therapies, while sleep problems are treated with drugs and sleep training. It is also important to test and treat any problems with vision, hearing, and mobility. Intensive therapies such as physical, occupational, and speech therapies are critical to start early and continue for as long as necessary. Applied behavioral analysis and / or behavioral therapy are also important to many individuals.
Prognosis
Most people with Angelman syndrome will have significant developmental delays, speech impairments, and motor problems, but they understand much of what is being said and often learn to communicate nonverbally and by using communication devices. Those with gene deletions are more severely affected, while those with non-deletions typically make more developmental progress with better communication skills. Individuals with AS appear to have a normal lifespan and generally show no decline in development with age.
As individuals reach adolescence and adulthood, seizures improve or disappear for most people, sleep tends to improve, but is still a problem for many, and gastrointestinal symptoms do not change much over the course of time. time. Anxiety often gets worse after puberty and can lead to difficult behavior. Many teens and adults with AS also have regular twitches in their hands called myoclonus that can spread to their arms and the rest of the body. Myoclonus is not a seizure activity, but it can interfere with quality of life and can be treated with medication.
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