医学
FMR1型
叙述性评论
随机对照试验
智力残疾
重症监护医学
脆性X综合征
安慰剂
生物信息学
脆性x
替代医学
遗传学
基因
精神科
内科学
病理
生物
作者
Lance Watkins,Seungyoun Moon,Lisa Burrows,Samuel Tromans,Julian Barwell,Rohit Shankar
标识
DOI:10.1080/14656566.2024.2323605
摘要
Fragile X syndrome (FXS) is the most common inherited cause of Intellectual Disability. There is a broad phenotype that includes deficits in cognition and behavioral changes, alongside physical characteristics. Phenotype depends upon the level of mutation in the FMR1 (fragile X messenger ribonucleoprotein 1) gene. The molecular understanding of the impact of the FMR1 gene mutation provides an opportunity to target treatment not only at symptoms but also on a molecular level.We conducted a systematic review to provide an up-to-date narrative summary of the current evidence for pharmacological treatment in FXS. The review was restricted to randomized, blinded, placebo-controlled trials.The outcomes from these studies are discussed and the level of evidence assessed against validated criteria. The initial search identified 2377 articles, of which 16 were included in the final analysis.Based on this review to date there is limited data to support any specific pharmacological treatments, although the data for cannabinoids are encouraging in those with FXS and in future developments in gene therapy may provide the answer to the search for precision medicine. Treatment must be person-centered and consider the combination of medical, genetic, cognitive, and emotional challenges.
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