What is Rett syndrome?
Rett syndrome is a rare neurological disorder affecting mainly females and very few males. It is present from conception and usually remains undetected until major regression occurs at around one year of age, when children may lose acquired skills and become withdrawn. Genetic but largely not inherited, Rett syndrome is usually caused by a fault on a gene called MECP2 which is found on the X chromosome. People with Rett syndrome have profound and multiple physical and communication disabilities and are totally reliant on others for support throughout their lives. Rett syndrome is often described as autism, epilepsy, cerebral palsy, Parkinson’s and anxiety disorder all rolled into one devastating condition. It is the second most common genetic cause of severe disability in females, after Down syndrome. Although present at birth, it is usually undetected until a major regression occurs at around two years of age, when children lose acquired skills (such as speech and purposeful hand movements) and the complexity of the disability is revealed.
Rett syndrome was first described in 1966 by the Austrian doctor, Andreas Rett. It could occur in any family and affects approximately 1 in 10,000 girls born each year and 1 in 40,000 boys.
Almost all cases of Rett syndrome are caused by a mutation (change in the DNA) in the MECP2 gene, which is found on the X chromosome (one of the sex chromosomes). This gene contains instructions to make a particular protein (MeCP2) that is vital for brain development. The gene abnormality prevents nerve cells in the brain from working properly. Almost all people with Rett syndrome have no history of the disorder in their family, and the mutation has happened spontaneously. Often parents feel that they must have been responsible for their child’s condition but this is not true. Because the mutation happens spontaneously there is nothing that the parent has or has not done, it is just a random new mutation .
Why is Rett syndrome almost always seen in girls?
Each person normally has one pair of sex chromosomes in each cell – females have two X chromosomes and males have one X and one Y.
Rett syndrome results when half the cells in the child’s brain and spinal cord are normal and half are abnormal (the child survives, but has a severe disability). This happens when the child has one X chromosome with the severe MECP2 abnormality and one X chromosome with the normal version of the gene. The child is almost always female as males don’t have a second X chromosome.
Rare exceptions of Rett syndrome in males occur when, for example, the male is born with an extra X chromosome so he has three sex chromosomes (XXY; known as Klinefelter’s syndrome), or when the change is found in only some of the boy’s cells (known as mosaicism).
Males who carry the abnormal MECP2 gene on their only X chromosome will usually develop a serious condition known as infantile encephalopathy and will not often survive beyond two years.
Males with less severe changes in their MECP2 gene can live a long life and are affected with learning difficulties but usually less severely than in Rett syndrome. Females who carry such (milder) changes on one of their two X chromosomes will often be perfectly healthy.
What do we offer?
We provide free support, advice and resources to anyone affected by Rett syndrome. Amongst our services our Family Support Team offer: help with diagnosis, support groups, advocacy, getting started with communication support and training, regional roadshows, accessing a specialist Rett syndrome clinic, as well as bereavement support.
In 2017, we launched our communication project; to give every person with Rett syndrome the opportunity to reach their communication potential so their voice can be heard. We have Augmentative and Alternative Communication (AAC) training days for families and professionals at various locations around the UK and a fantastic booklet, An Introduction to AAC for People with Rett Syndrome and other Complex Communication Needs giving advice, tips and personal stories using all forms of communication.
To show the impact of our work, here are some quotes from families we support …
Alanna, Mother of Aurora, 5 years old: “It’s a very hard and lonely road but Rett UK are always at the end of the phone when needed. They also create opportunities for families to feel inclusive and keep everyone informed about things affecting our everyday lives.”
Neil, Dad of Elsie, 2 years old: Our little princess was diagnosed last week. As soon as my wife and I contacted Rett UK they helped so much with support and hope. Truly amazing people helping truly amazing little girls. Thank you.
Heather, mum to Ruth, 20 years old: Thank you to everyone who organised the day. As always, I came away with new ideas, fresh confidence and sound advice to try to help my daughter in the best possible way I can. x
Kate mum to Kim, 7 years old: My knowledge and understanding of Rett syndrome has helped me be a better Mum to Kim and that is thanks to RETT UK. X
We’d like to say a huge thank you to The Giving Machine for choosing Rett UK as their Cause of the Month, and to all those whose donations will help to support our work. For more information please visit our website or contact us by email or telephone t: 01582 798 910 e: firstname.lastname@example.org w: www.rettuk.org
Rett UK is a registered charity in England and Wales (1137820) and in Scotland (SC047369). Registered for Gift Aid and GAYE schemes.