Antonini Giovanni, Soscia Federica, Giubilei Franco, De Carolis Antonella, Gragnani Francesca, Morino Stefania, Ruberto Amedeo, Tatarelli Roberto
Department of Neurological Sciences, University of Rome, La Sapienza, Italy.
J Rehabil Med. 2006 May;38(3):181-5. doi: 10.1080/16501970500477967.
To evaluate the health-related quality of life in myotonic dystrophy type 1 and its relationships with clinical, genetic, neuropsychological and emotional factors.
Case-control study of a continuous series of patients with myotonic dystrophy type 1.
Twenty patients, and 20 age-, sex- and education-matched healthy controls underwent the MOS 36-Item Short-Form Health Survey (SF-36), an extensive neuropsychological battery and emotional functioning tests.
Patients' SF-36 mean scores were lower than those of controls in all dimensions. The neuropsychological study showed a significant impairment in visuospatial and verbal abstract reasoning (p=0.001), visuospatial memory (p=0.002) and attentive functions (p=0.03) in patients with myotonic dystrophy type 1. The emotional assessment showed significantly high scores in anxiety (p=0.002) and depression (p=0.001), which occurred in approximately 50% of patients. Both physical and mental SF-36 areas were inversely correlated with age, duration and grade of disease, depression and anxiety and positively correlated with attentive control. SF-36 areas were not correlated with cytosine thymine guanidine expansion.
Health-related quality of life is severely impaired in myotonic dystrophy type 1 and it is negatively influenced by severity and duration of disease as well as by specific cognitive deficits and changes in emotional functioning. Therapeutic intervention in this field could contribute to ameliorate health-related quality of life in myotonic dystrophy type 1.
评估1型强直性肌营养不良患者与健康相关的生活质量及其与临床、遗传、神经心理和情绪因素的关系。
对一系列连续的1型强直性肌营养不良患者进行病例对照研究。
20例患者以及20名年龄、性别和教育程度相匹配的健康对照者接受了医学结局研究36项简明健康调查（SF-36）、全面的神经心理测试组和情绪功能测试。
患者的SF-36平均得分在所有维度上均低于对照组。神经心理学研究显示，1型强直性肌营养不良患者在视觉空间和言语抽象推理（p = 0.001）、视觉空间记忆（p = 0.002）和注意力功能（p = 0.03）方面存在显著损害。情绪评估显示，焦虑（p = 0.002）和抑郁（p = 0.001）得分显著升高，约50%的患者出现这种情况。SF-36的身体和心理领域得分均与年龄、病程和疾病严重程度、抑郁和焦虑呈负相关，与注意力控制呈正相关。SF-36领域得分与胞嘧啶-胸腺嘧啶-鸟嘌呤扩增无关。
1型强直性肌营养不良患者与健康相关的生活质量严重受损，疾病的严重程度和病程以及特定的认知缺陷和情绪功能变化对其产生负面影响。该领域的治疗干预可能有助于改善1型强直性肌营养不良患者与健康相关的生活质量。
