Fragile X

The Fragile X and Related Conditions Clinic (FXRC) provides streamlined access to evaluation, treatment and resources for individuals and families affected by Fragile X syndrome (FXS).

What is Fragile X syndrome?

FXS is the most common form of inherited intellectual disability, with impairments varying broadly across mild learning disabilities to autism.  In addition, there may be behavioural and emotional concerns such as hyperactivity, anxiety and mood disorders.

Diagnosis in children often leads to identification of family members with premutations and associated conditions.

Fragile X Testing

Fragile X Testing should be considered for:

  • any individual with otherwise unexplained developmental delays, mental impairments or autism;
  • older males experiencing tremors/ ataxia; and 
  • younger females experiencing infertility or early menopause.

About the FXRC

The FXRC was created out of a need identified from the Canadian Pediatric Surveillance Study on Fragile X performed by developmental pediatrician, Dr. Jonathan Down, and clinical geneticist, Dr. Gudrun Aubertin.  Based on the results, both doctors resolved to have an organized, multidisciplinary clinic that met the needs of individuals and families affected by FXS on Vancouver Island.

FXRC start-up funding came from the Specialist Services Committee (SSC), a joint collaborative committee of the Ministry of Health and the Doctors of BC. The project is being delivered as a Vancouver Island Service within Island Health.