What is Rett Syndrome?
Rett syndrome is a neurological developmental disorder that almost exclusively affects girls. Its characteristics are – normal early development which then slows, loss of purposeful movement of hands, distinctive hand movements, and problems with walking, seizures, severe language delay and intellectual disability.
The cause of the disorder varies from child to child. Although development looks normal initially, there may be subtle signs such as hypotonia (low muscle tone), difficulty feeding and jerkiness of limb movement. Then over time physical and intellectual symptoms appear. As the syndrome progresses, the child will progressively lose the ability to speak and have less purposeful use of her hands. Other early symptoms may be diminished eye contact and problems with her motor skills i.e. crawling/walking.
Apraxia – inability to perform motor functions – is perhaps the most severely disabling feature of Rett’s syndrome.
Rett syndrome is divided into 4 stages with the beginning stage typically between 6-18 months.
What causes Rett Syndrome?
Nearly all cases of Rett syndrome are caused by a mutation in the methyl-CpG binding protein.
How is it diagnosed?
Rett’s syndrome is clinically diagnosed by a paediatrician by observing signs and symptoms during early development and conducting ongoing evaluation of the child physical and neurological status. Then a geneticist should be consulted to confirm the clinical diagnosis.
Treatment for children with Rett Syndrome
Treatment is symptomatic – focuses on the management of symptoms. They may require medical management of breathing or convulsions, and there should be regular monitoring for scoliosis and possible cardiac abnormalities. A multi-disciplinary approach is suggested with physiotherapy/hydrotherapy to assist with mobility, occupational therapy to assist with functional activities, speech pathology for assisting with communication and feeding.
What Therapies for Kids can do
At Therapies for Kids our experienced paediatric physiotherapists can assist with the acquisition of early motor skills, development of motor planning, monitor for development of scoliosis and assist with maintaining muscle range, strength and mobility.
At Therapies for Kids, we are able to assist with developing a hydrotherapy programme for your daughter and this can be reviewed regularly.
Involvement in fizzy gym groups for socialisation and utilisation of the fizzy gym for a stimulating play and sensory environment can enrich your daughter’s early motor learning.
What you can do
By providing a range of fun motor experiences at home, in the pool, and in supported community environments, you can enhance your daughter’s early movement acquisition and assist with the learning of motor planning.
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