Medicines for Rett syndrome

What it is

Rett syndrome is a rare genetic condition that affects brain development, and it almost always affects girls (it is usually caused by a change in a gene on the X chromosome, and is very rarely seen in boys). It is present from birth (genetically), but has a characteristic pattern: babies with Rett syndrome usually develop normally at first, and then, typically in the second year of life (though the timing varies), they go through a period in which they lose skills they had gained — such as purposeful use of the hands, and, in some, spoken words — and develop the features of the condition. A very characteristic feature is the loss of purposeful hand skills, replaced by repetitive hand movements (such as hand-wringing, clapping, or mouthing). Other features can include: slowing of head growth; problems with movement, coordination, and walking (and, over time, difficulties with mobility); loss of, or difficulties with, communication and social interaction (though many people with Rett syndrome retain understanding and a strong desire to communicate, often through their eyes and other means); breathing irregularities (such as breath-holding or hyperventilation) when awake; epilepsy (seizures); problems with the digestive system, feeding, and the spine (such as scoliosis); and other associated features. The condition is lifelong, and its effects are significant, but there is a wide range in how individuals are affected. There is currently no cure, but a great deal can be done to support the person and manage the associated challenges through individualised, multidisciplinary care. Importantly, despite the significant physical and communication difficulties, many people with Rett syndrome are alert, aware, and keen to communicate and connect (often very effectively through eye gaze and other methods), and supporting communication is a key focus. Care addresses movement, communication, epilepsy, feeding, the spine, and other health and developmental needs, and supports the person and family. The key messages are that Rett syndrome is a rare genetic condition, almost always in girls, causing a loss of skills after early normal development, with characteristic hand movements and a range of difficulties, and that individualised, multidisciplinary support helps.

How it is treated

Rett syndrome is managed with individualised, multidisciplinary support that addresses movement, communication, epilepsy, feeding, the spine, and other needs, and supports the person and family; there is no cure, but much can be done to help, and supporting communication is a key focus. Diagnosis is based on the characteristic pattern and features and confirmed by genetic testing, and care is provided by a team of specialists. Because Rett syndrome affects many aspects, care is tailored to the individual and may include: support for communication, which is very important and a key focus — although spoken language is usually very limited, many people with Rett syndrome understand a great deal and are keen to communicate, often very effectively through eye gaze, and communication aids (including eye-gaze technology) and approaches help them communicate and connect, which is central to their care and wellbeing; physiotherapy and occupational therapy to support movement, posture, mobility, hand use, and daily living, and to help maintain function; management of epilepsy (seizures), which is common, with anti-seizure medicines and specialist input; management of the breathing irregularities where relevant; support with feeding and nutrition (as feeding and digestive problems can occur); care of the spine (as scoliosis is common and is monitored and managed, sometimes needing bracing or surgery) and orthopaedic care; and management of other associated health features. Support for development and learning, tailored to the individual, is provided, recognising the person’s understanding and potential. Support for families and carers — practical, emotional, and social — is a vital part of care, given that Rett syndrome is a lifelong condition with significant needs, and support organisations provide information, strategies, and community. Genetic counselling is offered to discuss the genetic cause and any implications. Care is coordinated and continues through life, adjusting to changing needs, with the aims of maintaining function, supporting communication and participation, managing health needs, and supporting quality of life for the person and family. Research into treatments, including approaches targeting the underlying genetic problem, is ongoing and offers hope for the future. The reassuring messages are that, although Rett syndrome is a lifelong genetic condition without a cure, individualised, multidisciplinary support — for communication (a key focus, as many people are alert and keen to connect), movement, epilepsy, feeding, the spine, and other needs, together with support for families — helps the person live as well as possible, and that research offers hope; so specialist care, a focus on communication, and coordinated support are the keys to managing the condition.