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STRZODA, Adam, KAMIŃSKA, Magdalena, STRZODA, Anna, STRZODA, Agata, SOWIŃSKI, Wojciech, ZDYBEL, Michał, JUDA, Agata & ROJEK, Kornelia. Fragile X syndrome - insight into what we know and prospects.Journal of Education, Health and Sport. 2023;19(1):59-63. eISSN 2391-8306. DOI http://dx.doi.org/10.12775/JEHS.2023.19.01.006 https://apcz.umk.pl/JEHS/article/view/43229 https://zenodo.org/record/7810907 The journal has had 40 points in Ministry of Education and Science of Poland parametric evaluation. Annex to the announcement of the Minister of Education and Science of December 21, 2021. No. 32343. Has a Journal's Unique Identifier: 201159. Scientific disciplines assigned: Physical Culture Sciences (Field of Medical sciences and health sciences); Health Sciences (Field of Medical Sciences and Health Sciences). Punkty Ministerialne z 2019 - aktualny rok 40 punktów. Załącznik do komunikatu Ministra Edukacji i Nauki z dnia 21 grudnia 2021 r. Lp. 32343. Posiada Unikatowy Identyfikator Czasopisma: 201159. Przypisane dyscypliny naukowe: Nauki o kulturze fizycznej (Dziedzina nauk medycznych i nauk o zdrowiu); Nauki o zdrowiu (Dziedzina nauk medycznych i nauk o zdrowiu). © The Authors 2023; This article is published with open access at Licensee Open Journal Systems of Nicolaus Copernicus University in Torun, Poland Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author (s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non commercial license Share alike. (http://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited. The authors declare that there is no conflict of interests regarding the publication of this paper. Received: 20.03.2023. Revised: 20.03.2023. Accepted: 08.04.2023. Published: 08.04.2023. Fragile X syndrome- insight into what we know and prospects Adam Strzoda1[coresponding author], Magdalena Kamińska1,Anna Strzoda1, Agata Strzoda2, WojciechSowiński1, Michał Zdybel1, Agata Juda1, Kornelia Rojek1 1Medical University of Lublin,Aleje Racławickie 1, 20-059 Lublin, Poland 2 Cardinal Stefan Wyszyński University in Warsaw, Medical Department:Warsaw,Mazowieckie, Dewajtis 5, 01-815 Warszawa,Poland Adam Strzoda: adamjanstrzoda@gmail.comhttps://orcid.org/0000-0002-1928-2664 Magdalena Kamińska: mkaminska99@gmail.comhttps://orcid.org/0000-0002-7624-4146 Anna Strzoda: annastrzoda2000@gmail.comhttps://orcid.org/0000-0002-4839-3531 Agata Strzoda: agata.strzoda@gmail.comhttps://orcid.org/0000-0001-7843-005X Wojciech Sowiński: wojciechjansowinski@gmail.comhttps://orcid.org/0000-0002-2267-4773 Michał Zdybel: michuuu223@gmail.comhttps://orcid.org/0000-0002-9037-4350 Agata Juda: agatajuda15@gmail.comhttps://orcid.org/0000-0003-3583-7305 Kornelia Rojek: rojekkornelia@gmail.comhttps://orcid.org/0000-0002-5096-1235 Abstract: Fragile X syndrome is a dominantly inherited genetic disease and is a consequence of the FMR1gene mutation located on the X chromosome. The number of patients affected by this disease with full mutation is estimated at 1 in 4000 men and 1 in 8000 women, however, the number of carriers with premutation is far greater. Depending on the mutation of the FMR1gene and levels of its products FMRP a variety of symptoms can be observed including- intellectual disability, mental retardation, lowered behavioral adaptation, autism, and dysmorphic features such as a long face with a broad forehead and prominent ears. The treatment is mostly symptomatic- managing comorbidities and an emphasis on psychological therapy. The objective of this paper is to sum up the most up-to-date knowledge regarding the pathogenesis, treatment- current and clinically tested, and novelties in the Fragile X syndrome Keywords: Fragile X syndrome, autism, neurodevelopmental disorders, FMRP, FMR1 |
