Rett syndrome

What is Rett syndrome?

Rett syndrome is a genetic neurological disorder primarily affecting girls. Rett Syndrome is the second most common genetic cause of neurological disability in girls and women, after Down syndrome.

Rett syndrome is characterized by normal initial development followed by a period of regression that leads to loss of speech, normal movement and hand use between 6 months and 3 years of age. After the initial regression period, the clinical course stabilizes. While affected individuals do not typically gain back their language and fine motor skills, some can learn to walk and many can use alternative means of communication, such as eye-pointing. Rett syndrome is not a progressive neurodegenerative disorder. People with Rett syndrome can live well into their 50s and 60s. However, some develop progressive motor impairment with advancing age.

Rett syndrome care at CHEO

CHEO provides consultative genetics care to children and adults with Rett syndrome and related disorders. Our pediatric neurologists see patients up to their 18^th birthday.

This includes patients with:

• Classical or atypical Rett syndrome, with or without a MECP2 mutation
• CDKL5 deficiency disorder
• FOXG1 deficiency disorder

CHEO provides best-practice Rett syndrome expertise regarding:

• Neurological problems (seizures, dystonia, spasticity, apraxia, contractures)
• Autonomic dysfunction (breathing and cardiac dysrhythmia, constipation, vasomotor symptoms)
• Sleep and behavior issues
• Bone health and scoliosis
• Genetics and family planning

Our neurology nurse coordinates care related to Rett syndrome and can be reached at 613-737-7600 ext. 2159, Monday to Friday from 7 a.m. to 3 p.m.

Useful links

• Ontario Rett Syndrome Association
• Association québécoise du syndrome de Rett
• International Rett Syndrome Association
• Rett Syndrome Diagnostic guidelines
• CDKL5 Canada
• FOXG1 international