Presentation 25 – Dr Federica Alice Maria Montanaro
SSBP Virtual Symposium 2023
Fragile X Syndrome and FMR1 Premutation: Results From a Survey on Associated Conditions and Treatment Priorities in Italy
Presenting Author : Dr Federica Alice Maria Montanaro
Abstract
Fragile X Syndrome and FMR1 Premutation: Results From a Survey on Associated Conditions and Treatment Priorities in Italy
Montanaro F.A.M.1,2, Alfieri P.1, Caciolo C.1, Brunetti A.3, Airoldi A.3, De Florio A.3, Tinella L.2, Bosco A.2, Vicari S.1,4
1 Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
2 Department of Education, Psychology, Communication, University of Bari Aldo Moro, 70121 Bari, Italy
3 Associazione Italiana Sindrome X Fragile, Italy
4 Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy
Background: Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (<200) in the FMR1 gene leading to lack of expression. When the CGG trinucleotide repeats between 55 and 200 times, there is a diagnosis of FMR1 premutation. Individuals with PM are at risk for a range of clinical conditions, including primary ovarian insufficiency (FXPOI), fragile X-associated neuropsychiatric disorders (FXAND) and fragile X-associated tremor/ataxia syndrome (FXTAS). Although there is not a current cure for FXS and PM, timely diagnosis as well as the implementation of treatment strategies, psychoeducation and behavioural intervention may improve the quality of life (QoL) of people carrying FXS or PM. With the aim to investigate the main areas of concerns and the priorities of treatment in these populations, the Italian National Fragile X Association in collaboration with Bambino Gesù Children’s Hospital, conducted a survey among Italian participants.
Method: Here, we present a survey based on a previous study aimed to investigate the main symptoms and challenges in American individuals with FXS. The survey has been translated in Italian in order to explore FXS needs of treatment also among Italian individuals affected by FXS, family members, caretakers and professionals. Additionally, we added a section designated only to people carrying the FMR1 PM, to investigate the main symptoms, daily living challenges and treatment priorities.
Results: Italian survey was launched in November 2022 and will be closed in May 2023. Results will be presented at the conference and compared with previous studies in research.
Conclusion: FXS and PM can be associated with a range of cognitive, affective, and physical health complications. Taking a patient-first perspective will help clinicians to better characterize the cognitive-behavioural phenotype associated to these conditions, and eventually to implement tailored therapeutic approaches.
Keywords: FMR1 gene; developmental disorders; fragile X syndrome; FMR1 premutation; voice of the patient; treatment.
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The Society for the Study of Behavioural Phenotypes (SSBP) is an international, interdisciplinary research society for studying the development, learning and behaviours of individuals with genetic disorders and ways of helping to improve lives. The society is registered as a charity in the UK (No. 1013849) and was set up in 1987.
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