Rett Syndrome
Rett Syndrome is a severe neurological condition which, it was thought, affected only girls. It is named after Dr Andreas Rett who first described the disorder in 1966. Further work in 1999 by Dr Huda Zoghbi and her colleagues found that the symptoms of Rett Syndrome are often the result of a mutation of a gene (MECP2) on the X chromosome. It is not usually passed down from parent to child: it can happen to anyone.The affected gene produces too much of a binding protein, resulting in severe disabilities on several levels, including cognition, communication, social and motor skills. Genetic testing can now diagnose Rett Syndrome, and it has very recently been discovered in boys. It is predominantly a condition which affects females, however, and this information sheet has been written from that perspective. At present there is no treatment or cure, but advances in genetic manipulation may eventually provide answers.
It has been calculated that of all the diseases which may produce mental disabilities in women, Rett Syndrome is a very close second to Down's Syndrome. It is estimated that it occurs in approximately 1 out of every 10,000 female births (calculated in the USA).
At birth the baby girls appear normal, and are often unaffected until around the age of one year, when development slows. Further regression develops from around the ages of 1-3. It may be sudden or gradual, but parents and professionals will notice loss or withdrawal of skills which had been developing normally, such as social skills, speech, and motor coordination.
Parents may report that their little daughter is strangely placid and calm compared to their friends' daughters of the same age, and that she does not reach or grab for things she wants.
Early indications
Many of the main symptoms of Rett Syndrome which develop between the ages of one and four are described as 'autistic-like', such as repetitive hand-flapping, -washing, -wringing and -biting; body rocking and sleep problems. The loss of speech, seen as such a major childhood achievement and an essential in all areas of life, can be very upsetting for parents. Overall growth is slow and there is likely to be poor weight gain. Gross and fine motor skills can be severely affected, resulting in an irregular, stiff-legged gait, loss of fine finger control and little change in facial expressions.
Other common problems could include
Cerebral palsy or autism may be suggested as a diagnosis by the family doctor during the early years. The physical disabilities may appear to worsen as the child grows, and some skeletal deformities may eventually develop, particularly in the spine and feet. Behaviour and sleep problems should improve with age, however, and many of the girls who are affected by Rett Syndrome appear quite healthy. Recurrent mood swings are common, from intensely happy to sad, frustrated and angry. Their autistic-like behaviours will increase when they are upset or agitated. Remember that not everyone will show all of the symptoms mentioned here, and individuals will have a wide difference in the severity of their problems.
The majority of girls with Rett Syndrome will become women with Rett Syndrome, and will need life-long care and attention on all levels to provide them with a stimulating, safe and loving environment in which to live.
Early management hints
Other Useful Contacts:
Rett Syndrome Association UK, 113 Friern Barnet Road, London N11 3EU
Tel: 0870 770 3266
Email: info@rettsyndrome.org.uk
Fax: 0870 770 3265
The RSA UK has a Family Care Worker in post (funded by a grant from the Community Fund) to provide support and advice to families.
Publications:
Contact RSA UK for their publication lists.
See also their website. Pathways to Learning in Rett Syndrome.
Jackie Lewis, Debbie Wilson. 1998. Price: £18.00 + p&p.
David Fulton Publishers
Tel: 0208 996 3610
Website:www.fultonpublishers.co.uk
Email: mail@fultonpublishers.co.uk
Order via Bookplace Ltd,
Tel: 08000 921 554
Email: customerservice@bookplace-ltd.co.uk
Available from the internet bookshop www.amazon.co.uk. are 10 books dealing with Rett Syndrome.
Internet sites:
The Rett Syndrome Association UK's useful site is at
www.rettsyndrome.org.uk/
The Contact a Family pages on Rett Syndrome at
www.cafamily.org.uk/Direct/r30.html
www.rettsyndrome.org/
- is the International Rett Syndrome Association, based in the USA.
The US Center for the Study of Autism's page on this disorder is at
www.autism.org/rett.html
Cambian Education Services run seven residential special schools and colleges for young people with autistic spectrum disorders, Asperger Syndrome/HFA, severe learning difficulties. OAASIS can give you advice on the schools and send you their prospectuses.
OAASIS also has a list of independent special schools/colleges that mention ADHD, again please contact us. OAASIS produces 8 chargeable publications entitled ‘First Guide to…’; wallet sized cards explaining 9 Learning disabilities and a wide range of free Information Sheets. Please contact OAASIS for the full list, or view them on the website at www.oaasis.co.uk. All the information sheets are checked annually, please ensure you have the current version.
Thanks to Athena Pite, Family Care Worker, RSA UK, for help with this Information Sheet.
© OAASIS (Office for Advice Assistance Support and Information on Special needs) This article can be freely reproduced with due attribution of authorship.