Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy.
Federica Alice Maria MontanaroPaolo AlfieriCristina CacioloAlessia BrunettiAlessandra AiroldiAnna de FlorioLuigi TinellaAndrea BoscoStefano VicariPublished in: Orphanet journal of rare diseases (2024)
FXS and PM can be associated with a range of cognitive, affective, and physical health complications. Taking a patient-first perspective may help clinicians to better characterize the cognitive-behavioral phenotype associated to these conditions, and eventually to implement tailored therapeutic approaches.