In November 2021, the European Fragile X Network convened to discuss removing the phrase ‘mental retardation’ from scientific terminology which relates to Fragile X Syndrome (FXS) and Fragile X Premutation Associated Conditions (FXPAC). These conditions occur when a short sequence of DNA is repeated many times over within a certain part of the FRAXA gene on the X chromosome. This gene, more commonly known as FMR1, provides instructions for the body to produce a protein called FMRP, which allows nerve cells to function and communicate effectively. Members of the Network agreed that the inclusion of ‘mental retardation’ in the expanded names of FRAXA, FMR1, and FMRP is offensive and inappropriate, as it confers stigmatisation towards people with FXS and FXPAC as well as their families.
Receiving a diagnosis for a condition which shapes the quality and course of a person’s life is a significant and unforgettable moment. It reveals the cause of complex symptoms, instigates a course of therapy and treatment, and prompts the search for support networks. For this life-changing experience to be distorted with an outdated and derogatory label such as ‘mental retardation’ is a tragedy. In casual conversation, retardation, retarded, or retard are pejorative words which carry a disrespectful weight and confer a sense of contempt towards the person being described. It comes as no surprise that people with FXS or FXPAC and their families find it highly upsetting when this term surfaces in medical conversations and clinical consultations.
FXS is indeed the leading genetic cause of intellectual disability, yet several years of research into FXS have revealed that the manifestation of this symptom is extraordinarily complex and dependent upon the age, sex, and environment of the affected person. This remains true for other symptoms of FXS, which include autism spectrum disorders, generalised anxiety, repetitive behaviours, sensory hypersensitivity, attention deficits, social difficulties, impulsiveness, hyperactivity, and other physical aspects (seizures, sleep disorders, heart conditions, etc). With this knowledge, FXS should not be defined by a single characteristic as it is clearly a converging spectrum of many. Reducing FXS down to 'mental retardation' is thus reductionist, misleading, and degrading. Such also applies for FXPAC, which does not cause intellectual disability of any degree.
Following the release of an article highlighting these concerns and various deliberations with the HUGO (Human Gene Organisation) Gene Nomenclature Committee, ‘mental retardation’ has been successfully eradicated from labels describing the genetic development of FXS and FXPAC. The renamed genes are as follows:
FRAXA: Fragile x site, folic acid type, rare, fra(X) (Q7.3) A
FMR1: Fragile x messenger ribonucleoprotein 1
This achievement is a step towards respect for neurodiversity, and it is hoped that the new and inclusive terminology will be swiftly adopted in scientific and clinical literature to improve how people with FXS and FXPAC are viewed, treated, and accepted by society.
To read the full article advocating for the change in FX-related terminology, please visit the following link:
Research Information Manager
Fragile X Society
13 April 2022