Rueda Jose-Ramon, Ballesteros Javier, Tejada Maria-Isabel
Department of Preventive Medicine and Public Health, University of the Basque Country, Barrio Sarriena S/N, Leioa 48940, Spain.
BMC Neurol. 2009 Oct 13;9:53. doi: 10.1186/1471-2377-9-53.
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.
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.
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.
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.
脆性X综合征（FXS）被认为是遗传性智力障碍最常见的病因。患者存在智力缺陷，可能包括注意力缺陷和/或多动障碍（ADHD）、自闭症谱系障碍以及言语和行为障碍。已经提出了几种药物干预措施来治疗这些缺陷。
对文献进行系统综述，并总结临床对照试验的证据，这些试验在诊断为FXS综合征的个体中比较了至少一种药物治疗与安慰剂或其他治疗，并评估了治疗的疗效和/或安全性。通过使用搜索词“脆性X”和“治疗”在PubMed、EMBASE和Cochrane数据库中进行检索来识别研究。使用Cochrane协作标准评估研究的偏倚风险。
检索到276篇潜在文章，14项研究符合纳入标准。其中，10项关于叶酸的研究（9项采用交叉设计，只有1项方法学质量良好且偏倚风险低）总体上未发现显著改善。一项小样本量试验评估了右苯丙胺和哌甲酯在额外诊断为ADHD的患者中的效果，发现服用哌甲酯的患者有一些改善，但随访时间过短。两项关于L-乙酰肉碱的研究显示，在额外诊断为ADHD的患者中有积极作用且无副作用。最后，一项针对额外诊断为自闭症的患者的研究评估了安帕金化合物CX516，发现治疗组与安慰剂组之间无显著差异。关于安全性，评估该领域的研究均未发现相关副作用，但纳入的患者数量过少，无法检测到低发生率的副作用。
目前，没有确凿证据支持对一般FXS患者或额外诊断为ADHD或自闭症的患者进行药物治疗的建议。
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