Rett syndrome
Background
Rett syndrome is a complex neurological disorder. Genetic in origin, it affects one in 12,000 females and one in 40,000 males. Although signs of Rett syndrome may not be initially obvious, it is present at birth and becomes more evident during the second year. People with Rett syndrome are profoundly and multiply disabled with high support needs throughout their life and this means that they will be highly dependent on others their entire life.
Credits
Last updated August 2016 by Dr H Cass, Neurodisability Consultant, Evelina Children’s Hospital, London, UK. Additional updates December 2025 by Rett UK.
Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.
The symptoms of Rett syndrome are many and varied, differing in severity between individuals and in one individual across the course of a day. The autonomic dysfunction present in all people with Rett syndrome impacts breathing regularity, heart rate, temperature, motor functions and digestion amongst other physiological processes.
Babies with Rett syndrome are usually placid and inactive with slow learning. Within a few months of birth, the child’s head size may fail to increase at the normal rate indicating that the brain is not growing.
Between 1-3 years:
- the abnormal hand movements which are characteristic of the condition appear, such as complex finger movements, with twisting and squeezing of the hands
- this is usually associated with loss of hand skills, speech, and early motor skills
- the child may be agitated and distressed and breathing may become irregular
- there may be short non-epileptic ‘vacant’ spells.
The early agitation usually settles after a year or two.
Later development:
- affected children usually have problems with poorly regulated muscle tension. Some girls do not achieve walking, and those that do walk tend to have a broad-based gait.
- there is a tendency to develop scoliosis
- other problems include feeding difficulties, periodic agitation and breathing problems
- most girls are non-verbal
- epilepsy may occur, usually between 5-10 years.
Despite these symptoms, many individuals with Rett syndrome continue to live well into middle age and beyond. They enjoy social contact, and seem to be particularly responsive to music.
A mutation on MECP2, a gene at the tip of the X chromosome, is the cause of the condition in the majority of people affected. There are other less common genetic conditions which result in a similar clinical picture including CDKL5, another gene on the X chromosome, associated with more severe and early onset epilepsy and FOXG1 syndrome.
Doctors will suspect Rett syndrome by observing typical signs during a child’s early development. Brain scans may confirm poor growth of the brain. The diagnosis is confirmed by carrying out a molecular test (testing the DNA to look for a mutation) in the MECP2 gene or rarely CDKL5 or FOXG1. However, if the clinical signs are present a child may still receive a diagnosis of Rett syndrome, even with negative genetic findings.
Treatment focuses on management of the symptoms. Medication may be needed to improve breathing irregularities and help with movement difficulties, and anticonvulsants can be used to control seizures. There should be regular monitoring for scoliosis. Possible heart conduction abnormalities should be evaluated with an electrocardiogram (ECG).
Physiotherapy can improve mobility. A brace may help with scoliosis and hand splints can be used to help improve hand function. In those who are not mobile, good adaptive seating is essential. Special nutrition can improve weight gain and the growth of a child. Some children will go on to need a gastrostomy (surgical opening through the abdomen into the stomach) for feeding.
Inheritance patterns
Most cases are due to sporadic mutation (occurring by chance). In these cases, the risk of another child being affected is very low. Families should seek advice from their regional genetics centre.
Prenatal diagnosis
Prenatal diagnosis is possible where the mutation has been identified in an individual family. The possibility of prenatal diagnosis is best investigated in advance of a pregnancy. Advice may be obtained from a regional genetics centre.
Rett UK
Helpline: 01582 798 911
Email: [email protected]
Website: rettuk.org
The Organisation is a Registered Charity in England and Wales No. 1137820 and in Scotland No. SCO47369. Rett UK is the only UK charity that provides professional support to people living with Rett syndrome across the UK. Rett UK is a national charity, founded in 1985, dedicated to supporting and empowering people with Rett syndrome and their families.
They aim to:
• provide professional family-support services, activities and events at a local, regional and national level
• educate health, social care and education professionals about Rett syndrome to enable quicker diagnosis and improved standards of care throughout the UK
• advocate for people with Rett syndrome to be given the support and resources needed to be active communicators
• promote, support and encourage research into new therapies and treatments for Rett syndrome
Rett UK’s vision is that everyone with Rett syndrome is given every possible opportunity to achieve their individual potential so that they may live their life to the full.
Group details last updated December 2025.
Reverse Rett
Tel: 0161 434 8117
Email: [email protected]
Website: reverserett.org.uk
Reverse Rett is a Registered Charity in England and Wales No. 1136809. It provides information and support on Rett syndrome and related MECP2 disorders, and runs a private Facebook forum for families. The Charity is also actively involved in fundraising for research initiatives, and also offers a parent mentoring and linking scheme.
Group details confirmed August 2016.