What is Rett Syndrome
Rett Syndrome is a genetic, neurodevelopment disorder. It affects females almost exclusively and is caused by a genetic mutation on the X chromosome. Worldwide it occurs in 1 in every 10,000 females at birth, and is even rarer in males. Babies usually develop normally, but between 6 – 18 months gradually develop mental and physical symptoms. Rett
What are the symptoms of Rett Syndrome
Each person with will be different, and some people have more severe symptoms than others. However, the most common symptoms are:
Physical:
- Tremors.
- Toe walking.
- Apraxia (unable to perform everyday movements).
- Increased muscle tone (extreme muscle rigidity, sometimes to the point where muscles seem completely locked in place).
Psychological:
- Breath holding.
- Difficulty sleeping.
- Intellectual disability.
- Autistic-like behaviours that are often misdiagnosed as autism in the early stages.
What to expect from Physiotherapy – Assessment
The role of physiotherapists is to work towards improving quality of life by maintaining the person’s independence, mobility, safety and wellbeing.
At your first appointment, your physiotherapist will take a thorough history with the patient and the family/guardians/support network to gain an in-depth understanding of person and their goals moving forward.
A physical examination will usually take place. This may differ depending on the persons level of function, but physiotherapists will look at:
- Tremors.
- Joint range of motion and muscle tone.
- How the person mobilises and transfers.
What to expect from Physiotherapy – Treatment
Physiotherapy can play an important role in managing Rett Syndrome. Although it is a progressive disorder, physiotherapy aims may include:
- Prevention of bed sores.
- Prevent spinal deformities.
- Improving balance and coordination.
- Supporting people with respiratory problems.
- Maintaining joint movement and flexibility.
- Trialling equipment (such as walking aids), with the aim to enhance independence and assisting in accessing the community.
Your physiotherapist will ensure an individualised management depending on your needs, abilities, and goals. It will also take into account on the severity of symptoms.
Physiotherapists work as part of a multi-disciplinary team. People with Rett Syndrome will often be seeing a range of other health professionals and medical team, such as neurologists, occupational therapists, and speech pathologies. If you need help from another professional and you currently don’t have one, we have a list of trusted providers we can refer you to.
If you know of someone with a diagnosis of Rett Syndrome, consider how a physiotherapist may assist in achieving their functional goals. You can call us to find out more, or book an appointment by calling us on (07) 5448 1155 or email admin@scnr.com.au
Kira Odling
Physiotherapist, Member APA
Evidence:
What is Rett Syndrome. (2022). International Rett Syndrome Foundation. Retrieved from https://www.rettsyndrome.org/
Fonzo M, Sirico F, Corrado B. Evidence-Based physical therapy for individuals with Rett syndrome: a systematic review. Brain sciences. 2020 Jul;10(7):410.
Lotan, M., Hanks, S. Physical therapy intervention for individuals with rett syndrome. The scientific world journal. 2006; 6: 1314-1338. doi:10.1100/tsw.2006.187