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BACKGROUND: The Fragile X community has expressed a desire for centralised, national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS). METHODS: This article draws on existing literature reviews, primary research and clinical trials on FXS, a Fragile X Society conference workshop and first-hand experience of clinicians who have worked with those living with FXS over many years. RESULTS: The article scopes proposed integrated guidance over the life course, including appendices of symptoms, comorbidities and referral options for FXS and Fragile X Premutation Associated Conditions. CONCLUSION: Integrated guidance would provide an authoritative source for doctors, health professionals, therapists, care workers, social workers, educators, employers, families and those living with FXS, so that a holistic, person-centred approach can be taken across the United Kingdom to garner the best outcomes for those with FXS.

Original publication




Journal article


J Appl Res Intellect Disabil

Publication Date





FXPAC (fragile X premutation associated conditions), autism, fragile X syndrome, integrated guidance, intellectual disability, newborn screening, Humans, Fragile X Syndrome, Intellectual Disability, Comorbidity, Health Personnel, Patient-Centered Care