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Repetitive hand movements like clapping is one of the common symptoms of Rett syndrome.

Repetitive hand movements like clapping is one of the common symptoms of Rett syndrome.
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Rett syndrome

Rett syndrome is a condition that affects the nervous system , causing intellectual and physical disability. While it is a life-long condition with no cure, treatment and therapies can help manage its symptoms, especially if started early.

What is Rett syndrome?

Rett syndrome is a rare genetic disorder caused by a mutation in a gene on the X chromosome. It is named after Andreas Rett, the doctor who originally described it. The disorder usually results from a random genetic mutation rather than being inherited. It mainly affects girls.

Symptoms or signs of Rett syndrome

Rett syndrome can cause different symptoms, ranging from mild to severe, that can show up at different ages in different children. Most children show the first signs of the condition between 6 and 18 months of age.

Most children with Rett syndrome have:

  • slow head growth
  • repetitive hand movements, such as clapping or tapping
  • problems with speech and communication
  • unsteady walking
  • little interest in social interaction

Some children have problems with feeding or breathing, muscle weakness or contractions, and seizures. Some children also develop other problems such as anxiety, sleep disturbances and gastrointestinal problems.

Rett syndrome diagnosis

Children are diagnosed with Rett syndrome based on their symptoms. This can be difficult as children can have different symptoms. Also, some symptoms are the same as those caused by other conditions, such as Angelman syndrome and Prader-Willi syndrome. Genetic testing can be done to confirm the diagnosis.

Living with Rett syndrome

Treatment can help manage the symptoms of Rett syndrome.

Therapies such as physiotherapy, occupational therapy and hydrotherapy can help improve movement, and various devices and methods might help with communication. Medications may help with symptoms such as seizures, or difficulties with breathing or digestion. In some cases, surgery might be recommended for problems such as deformities of the feet or spine.

Because it was described relatively recently, not a lot is known about how children with Rett syndrome progress into middle age and beyond.

Where to go for help

Rett Syndrome Association of Australia supports people with Rett syndrome and their families. And you can read more about genetic conditions in general and genetic counselling.

The Raising Children Network’s Disability Services Pathfinder can help you understand how to use the health and disability service system.

You might be able to get financial support through the NDIS or the Better Start for Children with Disability initiative, depending on where you live.

Last reviewed: November 2016

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Brain Foundation | Rett Syndrome

Rett Syndrome Rett Syndrome Read More at Virtual Medical Centre Description Rett syndrome is a neurological disorder found almost exclusively in females

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Rett Syndrome

Rett syndrome is a severe genetic disorder of the nervous system caused, in most cases, by a mutation in the MECP2 gene. The disorder is usually only seen in girls and affects all body movement. It causes loss of speech and hand use. Girls with Rett syndrome need therapy to help them with movement and communication.

Read more on Better Health Channel website

Rett Syndrome (Pervasive Developmental Disorder) | myVMC

Rett syndrome (RS) is a neurological disorder which also affects many other systems in the body

Read more on myVMC – Virtual Medical Centre website

Rett syndrome: signs, diagnosis, support | Raising Children Network

What is Rett syndrome? This guide explains signs, symptoms and diagnosis in children, plus government early intervention funding for Rett syndrome.

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Better Start Program | Carers Tasmania

The Better Start program is an Australian government initiative that supports families and their children who have a diagnosis of Cerebral palsy, Deafblindness, Down syndrome, Rett's disorder, Fragile X syndrome, Prader-Willi syndrome, Wiliams syndrome, Angelman syndrome, Kabuki syndrome, Smith-Magnesis syndrome, Cri du Chat syndrome, CHARGE syndrome, Cornelia de Lange syndrome, Microcephaly, and moderate or greater hearing or vision impairments.

Read more on Carers TAS website

Carers Victoria - How can we help?

Carers Victoria provides carers with information, advice, counselling, education and training, and access to systemic advocacy.

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Angelman syndrome

Angelman syndrome is a genetic condition that is present at birth (congenital). It causes intellectual disability and other features. Other characteristics of Angelman syndrome include distinctive facial features, mental retardation, speech problems and hyperactive behaviour. In most cases, the cause is a missing section (deletion) on the mother’s copy of chromosome 15.

Read more on Better Health Channel website

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