Systematic review of pharmacological treatments in fragile X syndrome

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• 作者：Jose-Ramon Rueda (1)
  Javier Ballesteros (2)
  Maria-Isabel Tejada (3)
  
• 刊名：BMC Neurology
• 出版年：2009
• 出版时间：December 2009
• 年：2009
• 卷：9
• 期：1
• 全文大小：864KB
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  47. The pre-publication history for this paper can be accessed here: http://www.biomedcentral.com/1471-2377/9/53/prepub
  
• 作者单位：Jose-Ramon Rueda (1)
  Javier Ballesteros (2)
  Maria-Isabel Tejada (3)
  
  1. Department of Preventive Medicine and Public Health, University of the Basque Country, Barrio Sarriena S/N, Leioa, 48940, Spain
  2. Department of Neurosciences, University of the Basque Country and CIBER in Mental Health (CIBERSAM), Barrio Sarriena S/N, Leioa, 48940, Spain
  3. Molecular Genetics laboratory, Department of Biochemistry, GIRMOGEN, Cruces Hospital, Plaza de Cruces s/n, Barakaldo, 48903, Spain
  

文摘

Background Fragile X syndrome (FXS) is considered the most common cause of inherited mental retardation. Affected people have mental impairment that can include Attention Deficit and/or Hyperactivity Disorder (ADHD), autism disorder, and speech and behavioural disorders. Several pharmacological interventions have been proposed to treat those impairments. Methods Systematic review of the literature and summary of the evidence from clinical controlled trials that compared at least one pharmacological treatment with placebo or other treatment in individuals with diagnosis of FXS syndrome and assessed the efficacy and/or safety of the treatments. Studies were identified by a search of PubMed, EMBASE and the Cochrane Databases using the terms fragile X and treatment. Risk of bias of the studies was assessed by using the Cochrane Collaboration criteria. Results The search identified 276 potential articles and 14 studies satisfied inclusion criteria. Of these, 10 studies on folic acid (9 with crossover design, only 1 of them with good methodological quality and low risk of bias) did not find in general significant improvements. A small sample size trial assessed dextroamphetamine and methylphenidate in patients with an additional diagnosis of ADHD and found some improvements in those taking methylphenidate, but the length of follow-up was too short. Two studies on L-acetylcarnitine, showed positive effects and no side effects in patients with an additional diagnosis of ADHD. Finally, one study on patients with an additional diagnosis of autism assessed ampakine compound CX516 and found no significant differences between treatment and placebo. Regarding safety, none of the studies that assessed that area found relevant side effects, but the number of patients included was too small to detect side effects with low incidence. Conclusion Currently there is no robust evidence to support recommendations on pharmacological treatments in patients with FXS in general or in those with an additional diagnosis of ADHD or autism.