Angelman Syndrome: A Rare Genetic Disorder

Angelman Syndrome, also called AS, is a genetic neurological disorder. It is caused because of a missing part of the fifteenth chromosome. The name of the missing part is UBE3A. Angelman Syndrome is pretty rare, only occurring in one out of every 10,000 to 25,000 children.

Angelman Syndrome was first identified by a pediatrician named Harold Angelman, in 1965. He noticed that several children he doctored had very similar appearances and symptoms.

Children with Angelman Syndrome display similar facial features. They have deeply set eyes, wide mouths, thin upper lips, protruding tongues, and prominent chins. Their heads are below average in size. They display jerky body movements. Often have trouble feeding during the first months of life, and often have trouble gaining weight. Delayed motor skill developments, such as sitting, walking, and crawling begin to appear when the child is between 6 and 12 months old. When they are old enough to begin talking, there is a noticeable delay in speech development. Fair colored hair and blue eyes are also a common factor.

Seizures are common among children with Angelman Syndrome, and normally begin when the child is two or three years old. Severe learning disabilities become noticeable as the child grows, and mental retardation is common. These children are often very hyperactive and have sleeping disorders. Movement and balance disorders can cause these children to have trouble with basic functioning.

Children with Angelman Syndrome have many things in common. Along with physical characteristics, and common developmental delays, they also exhibit many of the same behaviors. Typically, a child with Angelman Syndrome is very happy, and will commonly laugh, even at inappropriate times. They are very affectionate children as well.

It is common for children with Angelman Syndrome to be misdiagnosed as having cerebral palsy when they are very young. Many of the signs are the same for both medical conditions. Angelman Syndrome will be diagnosed when symptoms such as constantly laughing and smiling, but not speaking emerge.

Currently, there is no specific treatment for Angelman Syndrome. Medications can be given to help control seizures. Therapy can be given to help with communication, behavior, and daily activities. These therapies help the child to grow to their developmental potential. As the child grows into an adult, some symptoms seem to lessen; hyperactivity can decrease, and sleeping habits may improve. Generally, these children to not regress as they grow older. The earlier a child with Angelman Syndrome is diagnosed, the sooner they are able to receive the therapy they need o allow them to reach their own personal developmental potential.

Angelman Syndrome is a genetic disorder. It is not yet known why it happens, and the majority of children who are diagnosed have no family history of the disorder.