Angelman syndrome is a disorder caused by faulty genes. It revolves around problems with the central nervous system, causing severe intellectual and physical disability. Although life expectancy is near-normal, sufferers need continual care for their whole life.
Angelman syndrome does not usually become apparent until a child is six to 12 months old. Affected children may be unable to sit unsupported or even make babbling sounds. Speech may not develop at all or the child may only be able to say a few words. Communication is usually only possible with gestures or signs.
An affected child will have difficulty walking and there may also be problems with balance and coordination. Stiff, jerky arm movements may occur and the legs are often much stiffer than in normal children.
Angelman syndrome is characterized by a number of distinctive behaviors.
An affected child will often laugh and smile frequently with little or no stimulus. They may become very easily excitable or hyperactive and have a very short attention span. They often sleep much less than other children and have a particular fascination with water.
A child with Angelman syndrome will often have an abnormally small head that is very flat at the back. They may also have the following features:
• a tendency to stick their tongue out
• crossed eyes
• a wide mouth and widely spaced teeth
• very pale skin and pale colored eyes and hair
• curvature of the spine
Young babies may have problems feeding due to their inability to coordinate swallowing and sucking.
Although Angelman syndrome is genetic, neither parent will show any of the characteristics.
Angelman syndrome is usually suspected if a child’s normal development appears delayed and some of the distinctive characteristics begin to appear as the child grows older.
Blood samples and genetic tests can be used to provide a distinctive diagnosis. It is important to establish whether the genes responsible for the condition are from the mother or the father of the child. This may help to determine if there is a risk of the condition occurring in other children born to the same parents.
There is no known cure for Angelman syndrome, although many of its effects can be managed.
Anti-epileptic medication can be used to help control seizures. Commonly prescribed drug therapies include clonazepam and sodium valproate. Ketogenic diets have also been found to be effective.
As Angelman syndrome sufferers become older, they may suffer from joint stiffness. Physiotherapy is important here to help improve mobility, balance, and posture. If a sufferer has curvature of the spine, spinal surgery or a back brace may be necessary to prevent the condition from worsening. A lower leg brace may also be of use in helping with independent walking.
It is possible to improve non-verbal communication through communication therapy to teach sign language. Visual aids and iPad apps are often very useful tools here. Where there are behavioral problems, therapy may be of assistance to treat short attention span and hyperactivity disorders.
Sometimes, coordination and balance can be treated through activities such as swimming and horse riding.
There is no known cure for Angelman syndrome. However, promising early genetic research has shown that it may be possible to restore the faulty gene function in the brains of sufferers in the future.
Clinical trials are underway to investigate the possible treatment of many of the symptoms associated with the disorder. As Angelman syndrome sufferers age, their sleeping problems and hyperactivity tend to improve, although the issues of limited speech and intellectual disability will persist throughout their life.
Childhood seizures often disappear as the sufferer gets older, but they may return in maturity. Problems with communication often improve and general health is usually good.
Although there is currently no cure for Angelman syndrome, it is possible to manage the condition. More information on Angelman syndrome can be found at the charitable organization’s website.