Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up
Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up
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DOI：
10.1186/s12883-019-1465-5
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发表时间：
2019-10-27
期刊：
影响因子：
2.6
通讯作者：
Lancman, Selma
中科院分区：
文献类型：
--
作者：
Galvao, Claudia R. C.;Cavalcante, Priscilla M. A.;Lancman, Selma
背景：痉挛性截瘫、视神经萎缩和神经病变（Spoan综合征）是一种常染色体隐性遗传病，在巴西和埃及约有70例记录。方法：这是一项前瞻性纵向研究，对巴西北部大湾区（里约热内卢Grande do Norte） 7个社区的47例Spoan综合征患者进行研究，基于10年随访获得的比较数据，研究运动功能的变化。结果：参与者的平均年龄为47.21 +/- 12.42岁，平均丧失行走能力年龄为10.78 +/- 5.55岁，平均丧失手功能年龄为33.58 +/- 17.47岁。修正Barthel指数得分与调查变量的Spearman相关分析表明，年龄（p < 0.001）和右手握力（p = 0.042）和左手握力（p = 0.021）具有统计学意义。其余变量，包括出现症状的年龄（p = 0.634）、丧失行走能力的年龄（p = 0.664）和丧失手功能的年龄（p = 0.118），均无统计学意义。结论：我们的分析表明，参与者在35岁之前表现出轻微的依赖性。最大的损失发生在35岁到41岁之间，从50岁开始，几乎所有的患者都完全依赖。这些发现对于确定这些个体的预后以及合适的治疗、康复和辅助技术具有重要意义。
Background: Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt.Methods: This is a prospective longitudinal study performed with 47 patients affected with Spoan syndrome of seven communities of Rio Grande do Norte (Brazil) to investigate changes in motor function based on comparative data obtained from a 10-year follow-up.Results: The mean age of the participants was 47.21 +/- 12.42 years old, and the mean age at loss of ambulation and hand function were 10.78 +/- 5.55 and 33.58 +/- 17.47 years old, respectively. Spearman's correlation analysis between the score on the Modified Barthel Index and the investigated variables evidenced statistical significance for age (p < 0.001) and right- and left-hand grip strength (p = 0.042 and p = 0.021, respectively). Statistical significance was not evidenced for the remainder of the variables, including age at onset of symptoms (p = 0.634), age at loss of ambulation (p = 0.664) and age at loss of hand function (p = 0.118).Conclusions: Our analysis allows asserting that the participants exhibited slight dependence until age 35. The greatest losses occurred from ages 35 to 41, and starting at 50, practically all patients become completely dependent. These findings are relevant for determining the prognosis as well as suitable treatment, rehabilitation and assistive technology for these individuals.