Description

• Title:
  Fragile X syndrome - insight into what we know and prospects
• Creator:
  Strzoda, Adam;
  Kamińska, Magdalena;
  Strzoda, Anna;
  Strzoda, Agata;
  Sowiński, Wojciech;
  Zdybel, Michał;
  Juda, Agata;
  Rojek, Kornelia
• Description:
  Fragile X syndrome is a dominantly inherited genetic disease and is a consequence of the FMR1 gene 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 FMR1 gene 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
• Object availability:
  free access
• Rights: https://creativecommons.org/licenses/by-nc-sa/4.0 ;
  Prawa autorskie (c) 2023 Adam Strzoda, Magdalena Kamińska, Anna Strzoda, Agata Strzoda, Wojciech Sowiński, Michał Zdybel, Agata Juda, Kornelia Rojek
• Date:
  2023.04.08
• Type:
  info:eu-repo/semantics/article;
  info:eu-repo/semantics/publishedVersion
• Language:
  English
• Source:
  Journal of Education, Health and Sport; Vol. 19 No. 1 (2023); 59-63;
  Journal of Education, Health and Sport; Tom 19 Nr 1 (2023); 59-63;
  2391-8306
• Format:
  application/pdf
• Publisher:
  Nicolaus Copernicus University, Toruń, Poland
• Relation: https://apcz.umk.pl/JEHS/article/view/43229/35398
• Subject:
  Fragile X syndrome;
  autism;
  neurodevelopmental disorders;
  FMRP;
  FMR1
• Identifier: https://apcz.umk.pl/JEHS/article/view/43229
• Data provider:
  Akademicka Platforma Czasopism
• Can I use it?:
  seek permission
• Type:
  text