Quality of life assessment in a sample of patients affected by Prader-Willi syndrome
Quality of life assessment in a sample of patients affected by Prader-Willi syndrome
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DOI：
10.1111/j.1440-1754.2007.01200.x
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发表时间：
2007-12-01
影响因子：
1.7
通讯作者：
Taruscio, Domenica
中科院分区：
文献类型：
--
作者：
Caliandro, Pietro;Grugni, Graziano;Taruscio, Domenica
本研究的目的是调查Prader-Willi综合征患者的生活质量，并评估生活质量与临床表现之间的关系。根据患者的年龄，采用简表36和儿童健康问卷-父母表50对患者的生活质量进行评估。14岁以上患者的生活质量在心理和身体两方面都受到严重损害。观察时的体重、出生体重和面部特征是影响生活质量的主要变量。在14岁或以下的患者中，具有特征性面部特征的患者以及胎动减少或婴儿嗜睡的患者的家庭活动和体格评分较低。Mini-Mini评分越高的患者自尊越低。Prader-Willi患者的生活质量的生理和心理方面受到损害，体重是主要对生活质量的身体方面产生负面影响的临床发现。然而，体重并不会导致精神问题。这主要是由于面部特征的存在。有趣的是，出生体重高与生活质量的精神方面的损害较少相关。
The goals of this study are to investigate the quality of life of Prader-Willi syndrome patients and to evaluate the relationship between quality of life and the clinical picture.We performed a multicentric study on 40 consecutive patients with Prader-Willi syndrome. Quality of life was evaluated through the Short Form-36 and the Child Health Questionnaire-Parent Form-50 according to the age of patients.In patients older than 14 years old, quality of life is intensely impaired both in mental and physical aspects. Weight at the moment of the observation, birthweight and facial features are the main variables that influence quality of life. In patients who are 14 years old or younger, the Family Activity and Physical scores are lower for those patients with characteristic facial features and in patients with decreased fetal movement or infantile lethargy. Self-esteem is lower in patients with a higher Mini Mental Score.Physical and mental aspects of quality of life are impaired in Prader-Willi patients, weight is the clinical finding which mainly influences negatively the physical aspects of quality of life. However, weight does not cause mental problems. These are mainly due to the presence of characteristic facial features. Interestingly, a high birthweight is associated with less impairment of the mental aspects of quality of life.