Developmental Neuropsychology, University of Oxford, Oxford, United Kingdom.
PLoS One. 2010 Nov 30;5(11):e15112. doi: 10.1371/journal.pone.0015112.
There are substantial differences in the amount of research concerned with different disorders. This paper considers why.
Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental dyslexia, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY. A publication index reflecting N publications relative to prevalence was derived.
The publication index was higher for rare than common conditions. However, this was partly explained by the tendency for rare disorders to be more severe.
Although research activity is predictable from severity and prevalence, there are exceptions. Low rates of research, and relatively low levels of NIH funding, characterise conditions that are the domain of a single discipline with limited research resources. Growth in research is not explained by severity, and was exceptionally steep for autism and ADHD.
不同障碍相关的研究数量存在显著差异。本文探讨了原因。
通过文献检索，确定了 35 种神经发育障碍的出版物（1985-2009 年）：发育性阅读障碍、发育性计算障碍、发育性协调障碍、言语障碍、特定语言障碍、注意缺陷多动障碍、自闭症谱系障碍、妥瑞氏症、智力障碍、安格曼综合征、脑瘫、科里奥利-德朗热综合征、猫叫综合征、唐氏综合征、杜兴肌营养不良症、胎儿酒精综合征、脆性 X 综合征、半乳糖血症、克莱恩费尔特综合征、勒-尼汉综合征、低蛋白血症、马凡综合征、神经纤维瘤病 1 型、努南综合征、苯丙酮尿症、普瑞德-威利综合征、雷特综合征、鲁宾斯坦-泰比综合征、三体 18、结节性硬化症、特纳综合征、心脏血管面综合征、威廉姆斯综合征、XXX 和 XYY。由此得出一个反映与患病率相关的 N 出版物的出版索引。
罕见疾病的出版物索引高于常见疾病。然而，这在一定程度上可以用罕见疾病更严重的倾向来解释。
尽管研究活动可以从严重程度和流行率来预测，但也有例外。研究的低水平以及相对较少的 NIH 资助，反映了那些只涉及单一学科且研究资源有限的疾病状况。研究的增长不能用严重程度来解释，对于自闭症和 ADHD 来说，其增长尤其迅速。
