Senior Pediatric Physical Therapist
DHA License Number: 21863269-001
Rett syndrome is a rare, progressive neurodevelopment condition that mostly affects females and is characterized by physical and cognitive developmental impairment (Gold et al, 2018). Rett syndrome is caused by the mutation of the MECP2 gene on the X chromosome.
Rett syndrome is a non-hereditary genetic condition that occurs in 1 in 10,000-15,000 female births, and it is even rarer in males.
Children with Rett syndrome develop as expected for the first 6 to 18 months and then progressively exhibit physical and cognitive regression, such as the loss of hand use, low muscle tone, and walking and speech difficulties.
Rett syndrome is diagnosed following genetic testing and clinical examinations.
Major symptoms include:
Other symptoms include:
Life expectancy of a person with Rett syndrome depends on the age of diagnosis and symptom severity. Many people with the syndrome live a long life, with almost all girls affected reaching the age of 10 and more than half of them reaching the age 50 (Kirby et al, 2010).
Although there is no cure for Rett syndrome yet, current treatment focuses on managing symptoms to enhance quality of life, function, and communication skills.
A multidisciplinary tailored therapeutic approach that considers the needs of the child and the family is required to help the child reach their maximal potential, and an early start is essential. A person with Rett syndrome requires therapeutic interventions for life (Lotan, 2006).
Physiotherapy and movement is integral to maintaining the mobility and functions of a person with Rett syndrome (Hanks, 1986), as it focuses on the following ten areas:
The pediatric physiotherapist aims to help the child such motor development milestones as crawling, standing, walking by promoting:
A tailored and multidisciplinary treatment plan is the most effective approach to managing Rett syndrome, to ensure the best quality of life, prevent deformities and encourage/facilitate further development. In addition to conventional therapies such as physiotherapy, occupational therapy, speech therapy, alternative therapies like music therapy and hippotherapy can benefit people with Rett syndrome.
We at High Hopes know how unique each child is, and our multidisciplinary team works with the child and their parents to create an individualized treatment plan that helps enhance functional and social participation. Contact us today to learn more about our services.
1) Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities (Gold et al) https://doi.org/10.1021/acschemneuro.7b00346
3) Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review (Fonzo et al) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7407501/
4) Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention (Lotan) https://doi.org/10.1100/tsw.2006.249
5) Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence (Jefferson et al) https://doi.org/10.1371/journal.pone.0146824