PIND Surveillance Group, Child Development Centre, Addenbrooke's Hospital, Cambridge, UK.
Arch Dis Child. 2010 May;95(5):361-4. doi: 10.1136/adc.2009.173419. Epub 2009 Nov 29.
To study the epidemiology of diseases that cause progressive intellectual and neurological deterioration (PIND) in UK children.
Since May 1997, the authors have performed active surveillance to search for variant Creutzfeldt-Jakob Disease (vCJD) among the many diseases that cause neurological deterioration in children, using the monthly surveillance card sent to all UK consultant paediatricians by the British Paediatric Surveillance Unit. The authors obtain clinical details from reporting paediatricians by questionnaire or site visit, and an Expert Group then independently classifies the cases.
After 12 years, 2636 patients less than 16 years old with suspected PIND had been reported, of whom 1114 had a confirmed diagnosis to explain their deterioration: in these children, there were 147 different diseases. These were the six commonest diagnostic groups: leukoencephalopathies (183 cases), neuronal ceroid lipofuscinoses (141 cases), mitochondrial diseases (122 cases), mucopolysaccharidoses (102 cases), gangliosidoses (100 cases) and peroxisomal disorders (69 cases). Relatively large numbers of PIND children were reported from parts of the UK where there are high rates of consanguinity. Only six children with vCJD (four definite, two probable) had been identified.
Although this study does not ascertain all UK cases, it provides a novel insight into the epidemiology of the neurodegenerative diseases that cause PIND in children. It is reassuring that in general these children are carefully investigated and that active surveillance has found only six children with vCJD. However, there is concern that more childhood vCJD cases may appear, possibly with a different genotype from those identified so far.
研究导致英国儿童进行性智力和神经功能恶化（PIND）的疾病的流行病学。
自 1997 年 5 月以来，作者通过英国儿科监测单位每月向所有英国顾问儿科医生发送的监测卡，对导致儿童神经功能恶化的多种疾病中变异型克雅氏病（vCJD）进行了积极监测。作者通过问卷或现场访问从报告儿科医生那里获得临床详细信息，然后专家组独立对病例进行分类。
经过 12 年，报告了 2636 名年龄小于 16 岁的疑似 PIND 患者，其中 1114 例有明确诊断可解释其病情恶化：这些儿童有 147 种不同的疾病。这些是最常见的六个诊断组：白质脑病（183 例）、神经元蜡样脂褐质沉积症（141 例）、线粒体疾病（122 例）、粘多糖贮积症（102 例）、神经节苷脂贮积症（100 例）和过氧化物酶体疾病（69 例）。在英国某些近亲结婚率较高的地区，报告的 PIND 儿童相对较多。只发现了 6 例 vCJD 儿童（4 例确诊，2 例可能）。
尽管本研究未确定所有英国病例，但它为导致儿童 PIND 的神经退行性疾病的流行病学提供了新的见解。令人欣慰的是，一般来说，这些儿童都经过了仔细的检查，主动监测只发现了 6 例 vCJD 儿童。然而，人们担心可能会出现更多的儿童 vCJD 病例，其基因型可能与迄今为止发现的不同。
