Fragiles-X-Syndrom

Methodik

• Methodik zur KiP "Fragiles-X-Syndrom"
• Methodenreport zur Entwicklung von Kurzinformationen für Patienten (KiP)

Verwendete Quellen

Medline

• Bailey DB, Berry KE, Wheeler A, et al. Mavoglurant in adolescents with fragile X syndrome: Analysis of Clinical Global Impression-Improvement source data from a double-blind therapeutic study followed by an open-label, long-term extension study. J Neurodev Disord 2015;(8):1-10. DOI: 10.1186/s11689-015-9134-5. www.ncbi.nlm.nih.gov/pubmed/26855682
• Berry-Kravis E, Sumis A, Hervey C, et al. Clinic-based retrospective analysis of psychopharmacology for behavior in fragile x syndrome. Int J Pediatr 2012;2012:843016. DOI: 10.1155/2012/843016. www.ncbi.nlm.nih.gov/pubmed/22899942
• Berry KE, Portes V, Hagerman R, et al. Mavoglurant in fragile X syndrome: results of two randomized, double-blind, placebo-controlled trials. Sci Transl Med 2016;8(321):321ra5. DOI: 10.1126/scitranslmed.aab4109. www.ncbi.nlm.nih.gov/pubmed/26764156
• Diez JM, Schneider A, Phillips T, et al. Parent-delivered touchscreen intervention for children with fragile X syndrome. Intractable Rare Dis Res 2014;3(4):166-77. DOI: 10.5582/irdr.2014.01026. www.ncbi.nlm.nih.gov/pubmed/25606367
• Hunter J, Rivero-Arias O, Angelov A, et al. Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet A 2014;164A(7):1648-58. DOI: 10.1002/ajmg.a.36511. www.ncbi.nlm.nih.gov/pubmed/24700618
• Leigh MJ, Nguyen DV, Mu Y, et al. A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J Dev Behav Pediatr 2013;34(3):147-55. DOI: 10.1097/DBP.0b013e318287cd17. www.ncbi.nlm.nih.gov/pubmed/23572165
• Moskowitz LJ, Jones EA. Uncovering the evidence for behavioral interventions with individuals with fragile X syndrome: a systematic review. Res Dev Disabil 2015;38:223-41. DOI: 10.1016/j.ridd.2014.12.011. www.ncbi.nlm.nih.gov/pubmed/25575286
• Sahu JK, Gulati S, Sapra S, et al. Effectiveness and safety of donepezil in boys with fragile x syndrome: a double-blind, randomized, controlled pilot study. J Child Neurol 2013;28(5):570-5. DOI: 10.1177/0883073812449381. www.ncbi.nlm.nih.gov/pubmed/22752489

Cochrane Library

• Rueda JR, Guillen V, Ballesteros J, et al. L-acetylcarnitine for treating fragile X syndrome. Cochrane Database Syst Rev 2015;(5):CD010012. DOI: 10.1002/14651858.CD010012.pub2. www.ncbi.nlm.nih.gov/pubmed/25985235

Patienteninformationen

• Interessengemeinschaft Fragiles-X
  Fragiles-X Syndrom. Was ist das eigentlich? 2016 www.frax.de/familien/hat-mein-kind-fragiles-x/symptome-2
• Orphanet
  Le syndrome de l’X fragile: 2012 www.orpha.net/data/patho/Pub/fr/XFragile-FRfrPub120v01.pdf
• Patientinfo
  Fragile X Syndrome. 2015 www.patient.info/doctor/fragile-x-syndrome

Handsuche

Literatur

• Bagni C, Tassone F, Neri G, et al. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest 2012;122(12):4314-22. DOI: 10.1172/JCI63141. www.ncbi.nlm.nih.gov/pubmed/23202739
• Bailey DB, Jr., Raspa M, Bishop E, et al. No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey. Pediatrics 2009;124(2):527-33. DOI: 10.1542/peds.2008-2992. www.ncbi.nlm.nih.gov/pubmed/19581269
• Cleveland Clinic. Fragile X Syndrome. 2012. www.my.clevelandclinic.org/health/articles/fragile-x-syndrome
• Hartley SL, Seltzer MM, Raspa M, et al. Exploring the adult life of men and women with fragile X syndrome: results from a national survey. Am J Intellect Dev Disabil 2011;116(1):16-35. DOI: 10.1352/1944-7558-116.1.16. www.ncbi.nlm.nih.gov/pubmed/21291308
• Rath A, Nguengang Wakap S. Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order). 2017 (Orphanet Report Series, Rare Diseases collection; 1) www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
• Schaefer TL, Davenport MH, Erickson CA. Emerging pharmacologic treatment options for fragile X syndrome. Appl Clin Genet 2015;8:75-93. DOI: 10.2147/TACG.S35673. www.ncbi.nlm.nih.gov/pubmed/25897255

Weiterführende Links

Diese Auflistung ist eine Auswahl, sie wird fortlaufend ergänzt und ist nicht vollständig.

• www.achse-online.de
• www.frax.de
• www.orpha.net/consor/cgi-bin/index.php?lng=DE

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