Quality of life in patients with Charcot-Marie-Tooth disease type 1A

被引：8

作者：

Taniguchi, Juliana B. ^{[1
,2
]}

Elui, Valeria M. C. ^{[1
]}

Osorio, Flavia L. ^{[1
]}

Hallak, Jaime E. C. ^{[1
]}

Crippa, Jose A. S. ^{[1
]}

Machado-de-Sousa, Joao P. ^{[1
]}

Kebbe, Leonardo M. ^{[1
]}

Lourenco, Charles M. ^{[1
]}

Scarel-Caminaga, Raquel M. ^{[2
]}

Marques, Wilson, Jr. ^{[1
]}

机构：

[1] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Neurosci & Behav Sci, BR-14049900 Ribeirao Preto, SP, Brazil

[2] Univ Estadual Paulista, Sch Dent Araraquara, Mol Genet Lab, Dept Morphol, Araraquara, SP, Brazil

来源：

ARQUIVOS DE NEURO-PSIQUIATRIA | 2013年 / 71卷 / 06期

基金：

巴西圣保罗研究基金会;

关键词：

quality of life; questionnaires; Charcot-Marie-Tooth Disease; ITALIAN MULTICENTER; CMT PATIENTS; DISABILITY; DEPRESSION; NEUROPATHY;

D O I：

10.1590/0004-282X20130045

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：392 / 396

页数：5

共 18 条

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Arnold Angela, 2005, J Genet Couns, V14, P307, DOI 10.1007/s10508-005-0006-z

[2]

Ciconelli R., 1999, Rev Bras Reumatol, V39, P143

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