Consensus of the Fragile X Clinical & Research Consortium on Clinical Practices

The Guidelines represent expert consensus and not evidence-based studies. The clinical committee of the Fragile X Clinical & Research Consortium (FXCRC) could be thought of as a “consensus panel” since virtually every clinician in the USA seeing and managing a large number of patients with Fragile X syndrome and other Fragile X-associated Disorders is represented. When these guidelines were written there was an attempt made to review everything in the literature on the respective topics. However, there is not much literature to review on many of them. This lack of published data was one reason why this project was started — as an attempt to have at least some form of guidelines for best practices generated by consensus of all the physicians working on Fragile X, even if no studies existed. The project was also viewed as one way of generating priorities for future studies to provide evidence that will guide practice.

These guidelines, though not evidence-based (because no published evidence exists), were vetted through a formal process which consisted of the following:

  • Topics were selected by the clinical committee of the FXCRC.
  • These were presented to the entire FXCRC and the list revised based on input from the entire consortium.
  • The clinical committee chose a main author from the committee for each guideline paper, based on the person’s areas of interest and expertise. This person reviewed the literature on the topic and wrote the guideline based on what was available, including expert clinical opinion.
  • The written guideline was reviewed by another expert on the clinical committee and then by the entire committee.
  • These documents were then reviewed by a professional from the FXCRC who is not on the clinical committee but works in an area of expertise relevant to the guideline paper.
  • After this second level of review and revision, the documents were submitted to the entire FXCRC for review. The posted guidelines all earned consensus agreement from the members of the FXCRC that they represented best practice recommendations, based on current knowledge and practice from Fragile X clinics and clinicians.

The guidelines are meant to reflect the best information we have at any given time, and thus they are not “set in stone” but are expected to be documents that change as they are updated, revised and improved as new information becomes available through publications and through FXCRC projects. They will be reviewed and revised to incorporate new information every two years by the clinical committee of the FXCRC.