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Rett Syndrome

About the Dr. Peter Humphreys Rett Syndrome Clinic

Image of Chloe and PeterThe Rett Syndrome Clinic at CHEO provides consultative clinical care to children and adults* with Rett syndrome and related disorders.

Our patients include individuals with:

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

We provide consultation to patients, their families, and their health care team regarding best practices in clinical care for common medical issues. We provide 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 

The clinic is a teaching venue for medical students and resident physicians.

*Because we are located in a pediatric hospital, patients over age 18 are seen on a consultation basis only, with written recommendations made to the referring physician concerning suggested surveillance, sub-specialist consultations and treatment options.

What is Rett Syndrome?

Rett Syndrome is a genetic neurological disorder primarily affecting girls, at the rate of 1 in 10,000. 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.” Contrary to popular belief, Rett syndrome is not a progressive neurodegenerative disorder. Women with Rett syndrome can live well into their 50s and 60s. However, some develop progressive motor impairment with advancing age.

Some other features of Rett Syndrome may include: 

  • irregular breathing pattern (i.e. hyperventilation, breath-holding, apneas)
  • air swallowing (aerophagia)
  • hand-wringing or other repetitive hand movements (stereotypies)
  • scoliosis (spinal curvature)
  • teeth-grinding (bruxism)
  • poor circulation to legs and feet
  • decreased mobility due to apraxia (unable to smoothly execute a voluntary movement on command), sudden transient inability to move (“freezing” episodes), muscle rigidity (dystonia), spasticity and/or joint contractures, or poor balance
  • abnormal sleep patterns and night waking
  • gastrointestinal motility problems (reflux, constipation, poor nutrient absorption)
  • dysphagia (swallowing difficulties)
  • epileptic seizures and seizure-like activities (in 60-90% of patients)
  • poor growth despite adequate nutrition
  • heart conduction abnormalities 

About the Rett Syndrome Team

The clinic was started by Dr. Peter Humphreys, CHEO neurologist, in 2006 with the generous support of the Ontario Rett Syndrome Association (O.R.S.A.).

Upon Dr. Humphrey’s retirement at the end of 2017, medical directorship was taken over by Dr. Melissa Carter. Dr. Carter created the Rett syndrome clinic at Holland Bloorview Kids Rehabilitation Hospital in Toronto in 2013, and was the medical director there until moving to CHEO in 2016. She is dually trained as a clinical geneticist and developmental pediatrician. 

Dr. Erick Sell is the Rett syndrome clinic’s neurologist. He specializes in epilepsy and has additional interest in Angelman syndrome, a neurogenetic condition that is similar to Rett syndrome.

Renee Brannan is an epilepsy nurse and the Rett Syndrome Clinic Coordinator. She can be reached at 613-737-7600 ext.2159, Monday to Friday from 7 a.m. to 3 p.m. 

How to Make an Appointment

Physician referral is required. This can be done by sending a fax to 613-738-4879. Please ensure the following information is included in the referral:

  • Patient’s full name, date of birth, address and telephone number
  • A copy of all previous genetic testing results
  • A copy of all available growth curves (height, weight and head circumference) from birth
  • Any non-CHEO physician or psychologist consultation letters
  • A full list of current and past medications

We are located in Level 1 (basement) in the Garry Cardiff Wing of CHEO.

Clinic A (Neurology and Neurosurgery)
Rett Syndrome Clinic
401 Smyth Road Ottawa, ON K1H 8L1
613-737-7600 ext.3227 

Support for the Clinic

The CHEO Rett Syndrome Clinic operates with the generous support of the Ontario Rett Syndrome Association (O.R.S.A.). The clinic would not have been possible without the tireless advocacy of Terry Boyd, former president of O.R.S.A.

The Jessica Carr Endowment Fund supports ongoing research activities associated with the CHEO Rett Syndrome Clinic.

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