Fragile X Syndrome: A Review of Associated Medical Problems
Fragile X Syndrome: A Review of Associated Medical Problems
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DOI：
10.1542/peds.2013-4301
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发表时间：
2014-11-01
期刊：
影响因子：
8
通讯作者：
Berry-Kravis, Elizabeth
中科院分区：
文献类型：
--
作者：
Kidd, Sharon A.;Lachiewicz, Ave;Berry-Kravis, Elizabeth
脆性X染色体综合征（FXS）是已知的遗传性智力残疾最常见的遗传原因，也是已知的自闭症谱系障碍最常见的单基因原因。据报道，FXS患者通常会遇到一系列医疗问题，如中耳炎、癫痫发作和胃肠道问题。先前的研究调查了与FXS相关的医疗问题的普遍性，由于其在人口、环境和抽样方面的显着差异，因此很难解释。通过这篇全面的综述，我们通过回顾已经报道的与FXS相关的突出医学问题的研究来更新文献。然后，我们将这些研究的患病率结果与一个大型横断面数据库的结果进行比较，该数据库由专门照顾患有FXS的儿童的脆弱X诊所收集的数据组成，这些诊所是脆弱X临床和研究联盟的一部分。儿科医生和其他临床医生必须熟悉与FXS有关的医疗问题，以便受影响的患者得到适当的诊断和治疗；改善护理可能会提高这些患者及其家属的生活质量。
Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known single-gene cause of autism spectrum disorder. It has been reported that a spectrum of medical problems are commonly experienced by people with FXS, such as otitis media, seizures, and gastrointestinal problems. Previous studies examining the prevalence of medical problems related to FXS have been challenging to interpret because of their marked differences in population, setting, and sampling. Through this comprehensive review, we update the literature by reviewing studies that have reported on prominent medical problems associated with FXS. We then compare prevalence results from those studies with results from a large cross-sectional database consisting of data collected by fragile X clinics that specialize in the care of children with FXS and are part of the Fragile X Clinical and Research Consortium. It is vital for pediatricians and other clinicians to be familiar with the medical problems related to FXS so that affected patients may receive proper diagnosis and treatment; improved care may lead to better quality of life for these patients and their families.