Taniguchi Juliana B, Elui Valéria M C, Osório Flávia L, Hallak Jaime E C, Crippa José A S, Machado-de-Sousa João P, Kebbe Leonardo M, Lourenço Charles M, Scarel-Caminaga Raquel M, Marques Wilson
Department of Neuroscience and Behavior Sciences, Ribeirão Preto Medical School, Universidade de São Paulo, Ribeirão Preto, SP, Brazil.
Arq Neuropsiquiatr. 2013 Jun;71(6):392-6. doi: 10.1590/0004-282X20130045.
We assessed the functional impairment in Charcot-Marie-Tooth resulting from 17p11.2-p12 duplication (CMT1A) patients using the Short-Form Health Survey (SF-36), which is a quality of life questionnaire. Twenty-five patients of both genders aged ≥10 years with a positive molecular diagnosis of CMT1A were selected. Age- and gender-matched Control Group (without family history of neuropathy), and the sociodemographic and professional conditions similar to the patients' group were selected to compare the SF-36 results between them. The results showed that the majority quality of life impairments in CMT1A patients occurred in the social and emotional domains. Functional capacity also tended to be significantly affected; other indicators of physical impairment were preserved. In conclusion, social and emotional aspects are mostly neglected in the assistance provided to CMT1A Brazilian patients, and they should be better understood in order to offer global health assistance with adequate quality of life as a result.
我们使用生活质量调查问卷简表健康调查（SF-36）评估了因17p11.2-p12重复（CMT1A）导致的夏科-马里-图斯病患者的功能损害。选取了25名年龄≥10岁、分子诊断为CMT1A阳性的男女患者。选取年龄和性别匹配的对照组（无神经病变家族史），且其社会人口统计学和职业状况与患者组相似，以比较两组之间的SF-36结果。结果显示，CMT1A患者的生活质量损害大多发生在社会和情感领域。功能能力也往往受到显著影响；身体损害的其他指标则得以保留。总之，在为巴西CMT1A患者提供的援助中，社会和情感方面大多被忽视，因此应更好地了解这些方面，以便提供能带来足够生活质量的全面健康援助。
