What is Angelman syndrome?
Angelman Syndrome is a genetic disorder which is very complex and mainly affects the nervous system. It is also referred to as simply AS. Features of this condition include intellectual disability development delay, problems with movement and balance as well as severe speech impairment.
Most children who are affected will also have seizures which are recurrent known as epilepsy as well as a head which is small in size known as microcephaly. Development which is delayed is clear by the age of 6 months to 12 months and other frequent symptoms or signs usually appear in very early childhood.
Those children with AS normally have demeanors which are happy and excitable with hand-flapping movements as well as laughter. Most children have short span of attention as well as hyperactivity are common. They can also have sleeping problems as well as needing less sleep than normal. Some individuals who are affected have light-colored hair as well as fair skin.
Those with AS as they age become less highly strung and the problems with sleep start to get better. But, these individuals will continue to have severe speech impairment, intellectual disability as well as seizures thru out their lives. Adults with AS have coarse features of the face. Some as well develop a side to side abnormal curvature of the spine known as scoliosis. The life span of those with AS seem to be near normal.
Some symptoms of AS include unstable, stiff, jerky gait, diminished or absent skills with speech, excessive laughter/unusually happy demeanor, hand flapping, small head size as well as developmental delay.
There is not any specific therapy for AS. Medical treatment for seizures is normally necessary. Occupational as well as physical therapies, therapy for communication as well as behavioral therapies are needed to allowing those with MS to reach their maximum potential development.