Medicines for Angelman syndrome

What it is

Angelman syndrome is a rare genetic condition that affects the nervous system and causes significant physical and developmental effects. It is caused by a problem with a particular gene (usually a missing or non-working gene on chromosome 15 that would normally be inherited from the mother). It is present from birth, though it is usually recognised in early childhood as developmental differences become apparent. Angelman syndrome causes a characteristic pattern of features, which can include: delayed development and significant learning disability; little or no speech; problems with movement and balance (such as unsteady walking, stiff or jerky movements, and coordination difficulties); and a characteristically happy, sociable demeanour with frequent smiling and laughter, and often excitable, hand-flapping movements. Other common features can include epilepsy (seizures), which often develops in early childhood; sleep difficulties; a small head size; feeding difficulties in infancy; and, in some, particular facial features and other associated problems. The features and their severity vary between individuals. Angelman syndrome is a lifelong condition, and there is currently no cure, but a great deal can be done to support the person and manage the associated challenges. Care is individual and multidisciplinary, focusing on supporting development and communication, managing epilepsy and sleep and other health needs, and providing support for the person and family across health, education, and daily life. With support, children and adults with Angelman syndrome can be helped to develop skills, communicate (often using alternative communication methods), and take part in life, and the characteristically happy, sociable nature is a notable feature. The key messages are that Angelman syndrome is a rare genetic condition causing developmental delay, little or no speech, and movement and other difficulties, and that individualised, multidisciplinary support helps children and adults live as well as possible.

How it is treated

Angelman syndrome is managed with individualised, multidisciplinary support that addresses development, communication, epilepsy, sleep, and other health needs, and supports the person and family; there is no cure, but much can be done to help. Diagnosis is confirmed through genetic testing, along with clinical assessment, and often involves specialist input. Because Angelman syndrome affects development and causes a range of associated needs, care is provided by a team of professionals and is tailored to the individual, and may include: support for development and learning (including early intervention and educational support tailored to the child’s needs); support for communication, which is very important, as most people with Angelman syndrome have little or no speech — alternative and augmentative communication methods (such as signing, symbols, or communication aids) help people communicate and are a key focus; physiotherapy and occupational therapy to support movement, balance, coordination, and daily living skills; management of epilepsy (seizures), which is common and is treated with anti-seizure medicines and specialist input; management of sleep difficulties, which are common and can be helped with strategies and, sometimes, treatment; support with feeding and nutrition where needed; and management of other health needs as they arise. Support for families and carers — practical, emotional, and social — is a vital part of care, given that Angelman syndrome is a lifelong condition with significant needs, and support organisations provide information and community. Genetic counselling is offered to discuss the genetic cause, any implications for the family, and family planning. Care continues through childhood into adulthood, adjusting to changing needs, with the aim of helping the person develop skills, communicate, participate, and have a good quality of life, and supporting their family. The notably happy and sociable nature of many people with Angelman syndrome is a positive and characteristic feature. The reassuring messages are that, although Angelman syndrome is a lifelong genetic condition without a cure, individualised, multidisciplinary support — for development, communication, epilepsy, sleep, movement, and other needs, together with support for families — helps children and adults live as well as possible and develop their skills; so specialist care and coordinated support are the keys to managing the condition.