Angelman syndrome
Overview
Angelman syndrome is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities.
Causes
In most cases of Angelman syndrome, the child's parents do not have the condition and the genetic difference responsible for the syndrome happens by chance around the time of conception. Angelman syndrome usually happens when the gene known as UBE3A is either missing or not working properly. A gene is a single unit of genetic material (DNA) that acts as an instruction for the way an individual is made and develops. Usually a child gets 2 copies of this gene, one from each parent, but only the gene from the mother is active. Most cases of Angelman syndrome are caused by the child not getting a copy of the UBE3A gene from its mother, or the gene not working. This means there's no active copy of the gene in the child's brain. In a small number of cases, Angelman syndrome happens when a child gets 2 inactive copies of the gene from their father, rather than 1 from each parent. Sometimes the cause of Angelman syndrome is unknown. Most children in these unexplained cases have different conditions involving other genes or chromosomes.
Treatment
Your child may benefit from some of the following treatments and aids: anti-epileptic medicineto control seizuresphysiotherapymay improve posture, balance and walking ability; it's also important to prevent permanent stiffening of the joints as people with Angelman syndrome get oldercommunication therapy may help them develop non-verbal language skills, such as sign language and using visual aids, or ways to help them communicate such asSignalong,MakatonorPECS; using iPad applications and similar tablet devices may also helpbehavioural therapy may be recommended to help overcome behaviours you find hard to manage, such as hyperactivity and a short attention span anti-epileptic medicineto control seizures physiotherapymay improve posture, balance and walking ability; it's also important to prevent permanent stiffening of the joints as people with Angelman syndrome get older communication therapy may help them develop non-verbal language skills, such as sign language and using visual aids, or ways to help them communicate such asSignalong,MakatonorPECS; using iPad applications and similar tablet devices may also help behavioural therapy may be recommended to help overcome behaviours you find hard to manage, such as hyperactivity and a short attention span In later childhood, the seizures usually improve, although they may return in adulthood. With age, people with Angelman syndrome become less hyperactive and may sleep better. Most people with the syndrome will have learning disability and limited speech throughout their life. In adults, some mobility may be lost and joints may stiffen. People with Angelman syndrome usually have good general health and are often able to improve their communication and acquire new skills. While there's currently no cure for Angelman syndrome, research into treatments is being done in other countries. There are also clinical trials looking at treatment for some of the symptoms associated with Angelman syndrome, such as seizures. Find out more about: how to care for a disabled childsupport and benefits for carers how to care for a disabled child support and benefits for carers