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Rett Syndrome: Information and Treatment Options

Oct 01st, 2023 | by Pauline Chuang

Pauline Chuang

October 01st, 2023

What is Rett Syndrome?

Rett syndrome is a rare and complex neurological disorder that occurs predominantly in girls than boys. Rett Syndrome occurs in 1 of every 10,000 female births. Typically, children with Rett syndrome develop normally during their first year of life then experience a sudden regression in skills, such as hand use, communication, and mobility.

What is the Cause of Rett Syndrome?

Rett Syndrome is caused by mutations in the MECP2 gene. This gene is essential for providing instructions for making a protein that helps to regulate gene activity in the brain. The severity of this condition is determined by the location, type, and severity of the mutation.

What Are Some Common Symptoms of Rett Syndrome?

One of the hallmark features of Rett syndrome is hand wringing. The severity and presentation of symptoms can vary widely among individuals with Rett syndrome. Other common symptoms may include:

  • Sudden regression of motor skills (i.e. crawling, self-feeding, walking)
  • Loss of speech
  • Teeth grinding
  • Breathing abnormalities when awake (i.e., hyperventilation or breath-holding)
  • Delay in physical growth and head circumference
  • Gastrointestinal issues (i.e., constipation, gastroesophageal reflux, difficulty swallowing)
  • Intellectual disability
  • Abnormal muscle tone
  • Seizures
  • Cold hands or feet
  • Scoliosis

What Are Some Treatment Options for Rett Syndrome?

There is currently no cure. However, early intervention through both weekly and intensive therapy sessions can help manage symptoms, improve quality of life, and help the child reach their fullest potential. Therapies may include physiotherapy, occupational therapy, and speech therapy. Physiotherapy may focus on improving mobility, strength, and coordination. Occupational therapy may target improving upper limb strength and function. Speech and language pathology may address different ways of communicating (i.e., using an eye gaze device).

About the Author

As a creative and dedicated physiotherapist, Pauline always strives to create a supportive environment for kids to develop the confidence and competence to reach their goals. She believes in making therapy fun, interactive, and individualised so that it is enjoyable and meaningful to each child. You can spot Pauline at NAPA with the biggest smile, colorful socks, and contagious enthusiasm & positivity.

About NAPA Centre 

Learn about Rett Syndrome therapy options at NAPA Centre Australia, including physiotherapy, occupational and speech.NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.

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