What is Rett Syndrome?
Rett Syndrome is a rare neurological disorder which is only known to affect girls. It takes its name from professor Andreas Rett, from Vienna in Austria, who first diagnosed the condition in the mid sixties, however, it was not until 1983 that it was documented in English languages medical journals which has enabled more awareness and previously unidentified cases to be diagnosed now.
The girls are usually born from normal uneventful pregnancies, develop apparently normal until between the ages of 6-8 months, and then their progress slows and stops and they regress. Their physical and intellectual ability remains at the age level of 6-12 months.
Only about half the girls walk, depending on when their regression started, and usually with a stiff wide-legged gait. Few of the girls have purposeful hand use, the most are totally dependent on others for their care and management. It is thought to occur in approximately 1 in 12 000 female births.
The Cause
Despite extensive research and investigation overseas, to date the cause of Rett Syndrome is not known. It is believed to affect only girls, and to be a genetic disorder involving a new mutation on the X chromosome, although its precise location has not yet been discovered. Research to find a test for diagnosis is needed. Prevention and improved treatment can only follow such a breakthrough.
Diagnosis
Diagnosis at present depends on observation of a child’s early growth and development, and an ongoing assessment of medical history, and physical and neurological status. To date, there are no laboratory tests which can confirm the clinical diagnosis. The following criteria are used to identify a child with typical Rett Syndrome.
Please Note: Not all girls show all of these signs
* Loss of previously acquired skills.
* Registration in social development (the girls can appear to be autistic).
* Aggressive behaviour, screaming fits (can be continuous or periodic).
* Loss of purposeful hand use.
* Development of repetitive hand movements (hand writing, patting,clapping, grasping, finger-locking or mouthing).
* Severe learning difficulties.
* Slowing of head growth.
* Breathing disorders (hyperventilating or breath holding, and air swallowing).
* Teeth grinding
* Facial grimacing.
* Unsteady, stiff, wide-legged gait (those who are mobile).
* Shaking of torso, and also of the limbs, when the child is upset or agitated (jerky truncal antaxia).
* Muscle wasting and loss of weight control.
* Poor circulation, especially of lower limbs.
* Small feet.
* Increased ’spasticity’ with age (muscles become increasingly rigid, and joint deformities are liable to occur).
* Decreased mobility with age.
* Scoliosis (curvature of the spine).
* EEG abnormalities which include slowing of normal electrical patterns, epileptiform discharges, with or without clinical seizures.
* Epilepsy (most girls suffer from seizures and these start at any age).
* Periodic flushing of the face.
* Spontaneous vocalisations/laughter.
Recognised Stages
There are 4 recognised stages of Rett Syndrome which have been described by doctors, including Professor Hagberg of Sweden who has been heavily involved in research. They are very general and not all girls will be affected in the same way at the same stage.
1. Early Onset: Age - 6 months to 1 1/2 years
Duration - Months
2. Regression: Age - 1 to 4 yearsRett Syn
Duration - Weeks to months
3. Plateau Stage: Age - Preschool to school yrs
Duration - Years
4. Late Motor Deterioration Stage: Age 5-15-25+ years
Duration - Up to decades
Treatment
There are no drugs available to actually help the Syndrome, but seizures can be controlled by normal anti-convulsant drugs. Physiotherapy can greatly aid the girls and help prevent stiffness and deformities in the joints and help to keep the muscles toned. Hydrotherapy has proved very useful in the treatment of the girls. Music-therapy can also be very beneficial. Various pieces of equipment tailored to suit the individual girls’ needs can be of great assistance, (ie. braces to arrest scoliosis, splints to modify hand movements, standing frames for posture, for those not walking, and specially fitted wheelchairs for good sitting positions).
The South Australian Rett Syndrome Association Inc. was formed in July 1990, with the view to increasing public awareness. To help influence the professionals, and to further progress the fields of education, treatment, care and understanding.
As a charity organisation, the S.A.R.S.A. Inc. relies solely on hard work and commitment of its supporters who fundraise, and on the public for their generosity in giving.
All monies raised are used directly in furthering the aims of this association.
The S.A.R.S.A. Inc. is working to achieve an improved quality of life for all sufferers of Rett Syndrome and to help their families and carers.
