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Rett Syndrome

About the Rett Syndrome Clinic

The Rett Syndrome Clinic provides diagnostic expertise and clinical care to children, youth and adults*, as well as to their families.

In addition to evaluating the possibility of a diagnosis of Rett Syndrome, we provide medical management of neurological issues in patients with typical and atypical Rett Syndrome (i.e., seizures, contractures, sleep disorders, dystonia).

The clinic is a teaching venue for students and resident physicians. It is also a focus for clinical research in Rett Syndrome (e.g. multicenter drug trials).

Patients under the age of 18 are primarily seen by the neurologist, with consultations to other services such as gastroenterology, bone health, orthopedics, cardiology, etc. Where possible, particularly for patients coming from outside Ottawa, appointments with other medical services are made on the same day as the Rett Syndrome Clinic is held.

*Patients over age 18 are seen on a consultation basis, with written recommendations made to the referring physician concerning future tests, suggested sub-specialist consultations and treatment options.

What is Rett Syndrome?

Rett Syndrome is a neurological disorder primarily affecting girls, at the rate of 1 in 10,000 to 1 in 23,000. Rett Syndrome is the second most common genetic cause of severe motor and mental handicap in girls and women after Down syndrome.

It strikes in early childhood, approximately 6 to 18 months of age. Initially, the girls develop normally, followed by a period of regression that leads to loss of speech, normal movement and hand use. Many children become wheelchair-bound; those who walk display abnormal, stiff-legged gait.

Some other features of Rett Syndrome are:

  • irregular breathing pattern (i.e. hyperventilation, breath holding/apnea
  • air swallowing
  • hand-wringing
  • scoliosis
  • teeth-grinding
  • poor circulation to legs and feet
  • decreased mobility with age, partly due to apraxia (the inability to carry out a learned, voluntary act in the absence of paralysis), sudden transient inability to move (“freezing” episodes) to progressive muscle rigidity (dystonia)
  • spacticity/joint contractures
  • abnormal sleep patterns; crying behavior during the night
  • irritability, and agitation
  • gastrointestinal problems (i.e. reflux, constipation, decreased motility, poor nutrient absorption)
  • biting/chewing/swallowing difficulties
  • epileptic seizures and seizure-like activities (in 60-90% of patients)
  • growth retardation
  • decreased body fat and muscle mass -heart conduction abnormalities

About the Rett Syndrome Team

Dr. Peter Humphreys, Division of Neurology, Rett Syndrome Clinic Head Renee Brannan, epilepsy nurse and Rett Syndrome Clinic Coordinator Dr. Leanne Ward, Division of Endocrinology, specialist in bone health Elizabeth Churcher, occupational therapist

The nurse coordinator and occupational therapist are available if required, and a social worker is also available upon request. Consultations can also be made to community physiotherapists.

How to Make an Appointment

Physician referral is required. This can be done by sending a fax to 613-738-4879.

To schedule an appointment, call 613-737-7600 ext.3227. For more information, parents and health care professionals may contact Renee Brannan RN, Nurse Coordinator at 613-737-7600 ext.2159, Monday to Friday from 8:00 a.m. to 4:00 p.m.

Clinic C-A
Rett Syndrome Clinic
401 Smyth Road
Ottawa, ON K1H 8L1

Support for the Clinic

The CHEO Rett Syndrome Clinic operates with the generous support of the Ontario Rett Syndrome Association (O.R.S.A.). Since 2006, O.R.S.A. has provided the full funding to support CHEO’s Rett Clinic Coordinator to ensure that patients with Rett syndrome (RTT) are enabled to achieve their full potential and enjoy the highest quality of life in their community. In addition, the Jessica Carr Endowment Fund also supports ongoing research activities associated with the CHEO Rett Syndrome Clinic.

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