Living with classical galactosemia: health-related quality of life consequences
Living with classical galactosemia: health-related quality of life consequences
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DOI：
10.1542/peds.113.5.e423
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发表时间：
2004-05-01
期刊：
影响因子：
8
通讯作者：
Last, BF
中科院分区：
文献类型：
--
作者：
Bosch, AM;Grootenhuis, MA;Last, BF
Objective.经典半乳糖血症（McKusick 230400）是一种由半乳糖-1-磷酸尿苷转移酶（EC 2.7.712）缺乏引起的半乳糖代谢常染色体隐性遗传病。治疗，包括严格限制饮食半乳糖，是挽救生命，但大多数患者发展异常，尽管这种饮食。本研究的目的是研究半乳糖血症对患者的健康相关的生活质量（HRQoL）的影响，对教育水平，并对这些家庭的具体半乳糖血症相关的问题。研究对象为荷兰半乳糖血症协会的75名成员及其家庭成员。来自58个家庭的63例（84%）典型半乳糖血症患者返回了问卷。关于HRQoL，1至5岁的患者和健康儿童之间的腹部投诉和沟通领域的显着差异。8至15岁的患者在认知功能方面与健康同龄人不同。6至15岁患者的母亲报告运动和认知功能领域的HRQoL显著较低。16岁及以上的患者在认知和社会功能领域的得分显著较低。在特殊学校上学的患者比例明显高于普通人群，典型半乳糖血症患者的受教育程度明显低于普通人群。这是第一项使用成熟和有效的仪器在不同年龄组描述经典半乳糖血症患者HRQoL的研究。本研究的结果表明，半乳糖血症对HRQoL有负面影响。早期和定期评估和支持可能的认知问题应该是一个重要组成部分的后续协议与经典半乳糖血症患者。
Objective. Classical galactosemia (McKusick 230400) is an autosomal recessive disorder of galactose metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase (EC 2.7.712). Treatment, consisting of a severe restriction of dietary galactose, is life saving, but most patients develop abnormalities despite this diet. The aim of this study was to study the influence of galactosemia on the patients' health-related quality of life (HRQoL), on educational levels, and on the specific galactosemia-related concerns of these families.Methods. Age-specific HRQoL questionnaires, a classical galactosemia-specific questionnaire designed by the authors, and a list of questions regarding educational attainment were handed out or sent to all 75 members of the Dutch Galactosemia Society and their families.Results. Sixty-three (84%) patients with classical galactosemia from 58 families returned the questionnaire. Concerning HRQoL, significant differences between patients aged 1 to 5 and healthy children were found on the domains of abdominal complaints and communication. Patients aged 8 to 15 years differed from their healthy peers on the domain of cognitive function. Mothers of patients aged 6 to 15 reported a significantly lower HRQoL on the domains of motor and cognitive function. Patients 16 years and older had significant lower scores on the domains of cognitive and social function. The percentage of patients who attend special schools is significantly higher than in the general population, and the educational attainment is significantly lower in patients with classical galactosemia.Conclusions. This is the first study to describe the HRQoL of patients with classical galactosemia using well-developed and validated instruments in different age groups. The results of the present study indicate that having galactosemia negatively influences the HRQoL. Early and regular evaluation and support of possible cognitive problems should be a major part of the protocol for the follow-up of patients with classical galactosemia.