Lenoir P, Bodier C, Desombre H, Malvy J, Abert B, Ould Taleb M, Sauvage D
Service universitaire de psychiatrie de l'enfant et de l'adolescent, CHRU Bretonneau, 2 bis, boulevard Tonnellé, 37044 Tours cedex 09, France.
Encephale. 2009 Feb;35(1):36-42. doi: 10.1016/j.encep.2007.12.011. Epub 2008 Sep 23.
Estimates of the prevalence of autism and pervasive developmental disorders (PDD) are discordant and are moving towards an apparent increase in rates.
The studies carried out since 1966 illustrate the variability of the protocols used and explanatory hypotheses put forward. These investigations are difficult, sparse, but still growing at the same time that a debate develops on the possible increase in actual prevalence. Indeed, the rate initially admitted for classic autism was 5/10,000, then 1/1000 with an expanded definition to the forms, but the current figures are very different (almost 0.7% for all PDD), and this increase raises questions. The arguments in favour of an apparent increase are primarily methodological. Several biases are encountered when one compares the recent publications with those of previous years. First, autism is better known and recognized than 30 or 40 years ago. Then, the diagnostic criteria used over time are changing variables, and comparisons difficult. Recent studies using the criteria of a broader definition of autism, polyhandicap with severe retardation and autism signs of lighter forms. The fact that children with autism are diagnosed more frequently in the younger age could also occasionally lead to an artificial increase in the number of cases identified in new surveys in populations of young children. Other factors are cited to explain the current increase. There could be higher rates of autism (and mental retardation) among children of migrants from distant countries, with the aetiological hypothesis of maternal infections, more frequent due to immune deficiency against infectious agents depending on the environment, metabolic decompensations also related to changes in surroundings, or more births from unions among migrant mothers and men with Asperger syndrome (with increased risk of paternity of a child with autism). Other theories relate to pollution, vaccinations, a growing number of premature babies; all assumptions that appear, for the time being, insufficiently explored and documented. The issue is also one of the motivations underlying these steps, and setting a parallel prevalence actually increased with this or that factor has presently been scientifically validated. Finally, if a careful reading of recent publications indicates that autism has become more frequent; assumptions that describe an increase in "artificial", based on methodological arguments, seem to be more consistent. EFFECTS OF EXTENSION OF DIAGNOSTIC CRITERIA AND NOSOGRAPHY FOR PDD: Today, the recruitment of individuals with autism in a population far exceeds the initial criteria of Kanner in the 1970's. It includes clinical forms with associated pathologies, or lighter and probably more frequent clinical forms. Other assumptions arouse interest, but also controversy regarding their relevance. The enumeration of cases of PDD in a population is actually at its beginning. In the 1970's, "childhood psychoses" (the term then used) seemed rare. The identification of cases was probably the main reason. Long available figures remain scarce, and their rate increases gradually from the 1990s, but is, in fact, a problem of inflation. What is the part played in this flight of changing diagnostic criteria and substitutions, or other methodological effects? Or even opportunistic effects, if we speak of an epidemic to undermine a variety of factors. The evidence provided so far is the improved identification of cases, enlargement of the concept, and better shared diagnostic criteria. However, the validity and limitations of clinical forms are still vague and unresolved.
How to study epidemiology in the future - to move forward, studies should be designed with partners' medical history and medicosocial studies, based on a better consensual methodology, epidemiology, statistics and diagnosis, with a definition of the thresholds for inclusion, and arbitration procedures. On this basis, a study must also be coordinated with those concerning mental retardation, learning disorders, etc, otherwise the same topics will be counted twice or even three times. As for the addition of syndromic forms of PDD (those with known aetiology), their number is still below a proportion sufficient to be an appeal. Moreover, another problem exists: the degree of membership of each of these syndromes, or individual cases, or autistic spectrum disorders (internal variability phenotypes). For the moment, we could design two studies included better: developmental disorders and associated pathologies. Regarding the "ethic" dimension, a more regular diagnosis of PDD (preferred to that of mental retardation or learning disorder) will lead to shared practices and set limits for greater recognition.
自闭症及广泛性发育障碍(PDD)患病率的估计结果并不一致,且呈现出明显上升的趋势。
自1966年以来开展的研究表明,所采用的研究方案及提出的解释性假说存在差异。这些调查难度较大且数量稀少,但仍在不断增加,与此同时,关于实际患病率可能上升的争论也在展开。的确,最初公认的典型自闭症发病率为万分之五,随后随着定义范围扩大到各种形式,发病率变为千分之一,但目前的数据却大不相同(所有PDD的发病率接近0.7%),这种上升引发了诸多疑问。支持明显上升的观点主要基于方法学。当将近期出版物与往年的进行比较时,会遇到多种偏差。首先,如今自闭症比三四十年前更广为人知且更易识别。其次,随着时间推移,所使用的诊断标准不断变化,变量不同,难以进行比较。近期研究采用了对自闭症更宽泛的定义标准、伴有严重智力迟钝的多重残疾以及较轻形式的自闭症体征。自闭症儿童在更小年龄被诊断出来这一事实,偶尔也可能导致在针对幼儿群体的新调查中所识别出的病例数出现人为增加。还有其他因素被引用来解释当前的上升情况。来自遥远国家的移民儿童中自闭症(以及智力迟钝)的发病率可能更高,病因假说包括母亲感染,由于根据环境对传染原的免疫缺陷这种情况更常见,代谢失调也与环境变化有关,或者移民母亲与患有阿斯伯格综合征的男性结合生育的孩子更多(自闭症患儿的父系风险增加)。其他理论涉及污染、疫苗接种、早产儿数量增加;目前所有这些假设似乎都未得到充分探究和记录。这个问题也是这些研究背后的动机之一,目前还没有科学验证某种因素确实导致了患病率的平行上升。最后,如果仔细研读近期出版物表明自闭症确实变得更常见了;基于方法学观点描述“人为”增加的假设似乎更合理。
诊断标准扩展及PDD疾病分类学的影响:如今,在人群中招募自闭症患者远远超出了20世纪70年代坎纳最初的标准。它包括伴有相关病症的临床形式,或者较轻且可能更常见的临床形式。其他假设引起了关注,但关于其相关性也存在争议。对人群中PDD病例的统计实际上才刚刚开始。在20世纪70年代,“儿童精神病”(当时使用的术语)似乎很罕见。病例识别可能是主要原因。长期可得的数据仍然稀少,其发病率从20世纪90年代开始逐渐上升,但实际上这是一个膨胀问题。在这种诊断标准的变化、替代以及其他方法学效应中,各自起到了什么作用?或者甚至说是机会主义效应,如果将其比作一场流行病来破坏各种因素的话。目前所提供的证据是病例识别的改善、概念的扩大以及诊断标准的更好共享。然而,临床形式的有效性和局限性仍然模糊且未得到解决。
未来如何开展流行病学研究——为了取得进展,研究应与伙伴的病史及医学社会学研究相结合进行设计,基于更好的共识性方法学、流行病学、统计学和诊断方法,明确纳入标准阈值以及仲裁程序。在此基础上,一项研究还必须与关于智力迟钝、学习障碍等的研究相协调,否则相同的主题将会被重复计算两次甚至三次。至于PDD的综合征形式(那些病因已知的)的增加,其数量仍未达到足以引起关注的比例。此外,还存在另一个问题:这些综合征、个别病例或自闭症谱系障碍(内部可变表型)中每一个的归属程度。目前,我们可以设计两项更好纳入的研究:发育障碍及相关病症。关于“伦理”层面,对PDD进行更常规的诊断(相对于智力迟钝或学习障碍的诊断)将导致共同的实践,并为获得更多认可设定界限。