Hereditary ataxias and spastic paraplegias: Methodological aspects of a prevalence study in Portugal
Hereditary ataxias and spastic paraplegias: Methodological aspects of a prevalence study in Portugal
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DOI：
10.1016/s0895-4356(97)00202-3
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发表时间：
1997-12-01
影响因子：
7.2
通讯作者：
Serrano, P
中科院分区：
文献类型：
--
作者：
Silva, MC;Coutinho, P;Serrano, P
葡萄牙于1993年设立了一个研究遗传性共济失调（HA）和家族性痉挛性截瘫（FSP）患病率的项目。以往患病率研究中的患者查明主要依靠覆盖整个调查地区的中心医院神经内科和其他相关科室的入院和门诊接触信息。如果使用这种方法对大量人群进行研究，许多患者可能会被忽视，因为中心医院的登记册非常不完整，而且大部分还没有实现计算机化。另一方面，HA和FSP是家庭聚集性出现的罕见疾病，根据葡萄牙人口的适当框架进行抽样调查是不合理的。因此，我们决定在地区一级开展两阶段的患病率调查，涉及在地区卫生机构工作的所有医生和民众的合作，在第一阶段筛查符合条件的受试者。在第二阶段，所有筛选为阳性的受试者均由神经科医生进行检查。这种方法提供了对假阳性和假阴性的直接估计，所有患者也在第二阶段进行了检查，我们是通过其他信息来源了解到的。 试点地区遗传性共济失调和痉挛性截瘫为每10万居民6.4人。筛查程序的敏感性为 81.2%，阳性筛查的预测值为 25%。考虑到研究人群的地理地域性、病例识别来源的全面性以及相关卫生专业人员的高度依从性，我们相信这种方法可以广泛使用，特别是在具有类似卫生保健服务的国家。 (C) 1997 爱思唯尔科学公司。
A project for studying the prevalence of hereditary ataxias (HA) and familial spastic paraplegias (FSP) in Portugal was set up in 1993. The ascertainment of patients in previous prevalence studies relied mainly on the information of hospital admissions and out-patient contacts with the neurology and other related departments at central hospitals covering the whole region surveyed. Many patients might be overlooked if large populations were studied using this method, since registers at central hospitals are very incomplete and for most part not yet computerized. On the other hand HA and FSP are rare diseases appearing in family clusters, and it would be unreasonable to undertake a sample survey based upon a suitable frame of the Portuguese population. Therefore we decided to carry out a two-phase prevalence survey at district level, involving the collaboration of all physicians working in the district health institutions and the population, in the screening of eligible subjects in phase 1. All subjects screened as positive were examined by a neurologist in phase 2. This method provided a direct estimate of false positives and false negatives were all patients also examined in phase 2, who came to our knowledge using other sources of information The prevalence of hereditary ataxias and spastic paraplegias in the pilot district was 6.4 per 100,000 inhabitants. The sensitivity of the screening procedure was 81.2% and the predictive value of a positive screening was 25%. Considering the geographically circumscribed district nature of the populations to be studied, the comprehensive sources of case identification used and the high adherence of the health professionals involved, we believe that this method can be widely used, particularly in countries with similar health care services. (C) 1997 Elsevier Science Inc.