Fragile X International and its members have worked together to publish several papers in recent years.
The Joys of Fragile X
In October 2024, FraXI led in publishing The joys of fragile X: Understanding the strengths of fragile X and delivering a diagnosis in a helpful, holistic way. This article provides a positive framework for a doctor, geneticist, genetic counsellor or other professional to deliver a FXS diagnosis and offer support. FraXI’s aim is to give a more accurate and holistic definition of FXS, covering all facets of the condition, including its variability and positive aspects.
FXS is commonly described in terms of the ‘problems’ associated with it and stigmatic language is used. Instead, we believe that giving diagnosis and support in a holistic and family-centred way is important. In delivering a FXS diagnosis, the strengths of those living with FXS should be the starting point. These strengths should be built on at the same time as supporting areas of need.
A Holistic Approach to FXS
In February 2024, A Holistic Approach to Fragile X Syndrome: Integrated Guidance for Person-Centred Care, was published by some of FraXI’s Advisors, FraXI’s President, and UK scientists and clinicians. While the article focuses on the need for integrated guidance in the UK, the topic is one which pertains to all of our countries.
FraXI calls for a holistic approach in diagnosing, treating and supporting those with FXS. Some of our countries have centres of expertise with fragile X Multi-Disciplinary Teams which include medical doctors from various specialities, psychologists, physical therapists, speech therapists, occupational therapists, etc. Our hope is that anyone diagnosed with FXS anywhere in the world will have access to a full range of biopsychosocial support which will enable them to live happy and fulfilling lives.
Renaming the FMR1 Gene
In 2022, FraXI successfully campaigned to change the name of the FMR1 gene. A paper was published in Cells pushing for these changes, which led to convincing the HGNC (HUGO Gene Nomenclature Committee) to change the definition of FRAXA & FMR1, removing ‘retardation’ and ‘macroorchidism’ from labels.
The acronym FMR1 remains the same, but now represents: Fragile X messenger ribonucleoprotein 1. Following the change to the FMR1 gene name, the Fragile X protein terminology (FMRP) also changed to Fragile X messenger ribonucleoprotein 1.
This achievement is an important step towards respect for neurodiversity, combating negative stereotypes, removing offensive language, and allowing families to recognise the full potential in their loved one living with FXS.
FXPAC
In 2020, a paper was published calling for a new name for FMR1 premutation-associated conditions. The result was Fragile X Premutation Associated Conditions being launched and now adopted by the international community. Here is the 2020 article published in Frontiers; and here is the 2023 publication on Fragile X Premutation Associated Conditions from the 5th International Conference on the FMR1 Premutation.
It is vital to listen to the families and carriers, those whose daily lives and identities are affected by these terms. Fragile X Premutation Associated Conditions is a term which lists everything which may or may not affect a premutation carrier, is non-offensive and non-discriminatory. We welcome the research many are doing in this field, and welcome the fact that researchers going forward are using this inclusive terminology as set out in the 2020 Frontiers article.
