Verhoeven Willem M A, Tuinier Siegfried
Vincent van Gogh Institute for Psychiatry, Department of Clinical Research, Venray, The Netherlands.
Neurotox Res. 2008 Oct;14(2-3):141-50. doi: 10.1007/BF03033806.
Phenomenology has been the reference point that investigators have used in their efforts to understand schizophrenia. Although symptoms and signs are crucial for the diagnosis of schizophrenia, there is an ongoing debate since Kraepelin attempted to group symptoms to understand the etiology of schizophrenia. Several operational criteria have been developed to establish the diagnosis of schizophrenia, making it obvious that there are no precise symptomatological boundaries. There is little clear indication which of the systems is valid for genetic and other biological research. Despite the enormous effort to find a linkage between schizophrenia and one or more loci, the results are far from conclusive. Another approach is the search for candidate genes of which DICS1 and 22q11 deletion syndrome are examples. In all studies into the genetic underpinnings of schizophrenia, however, the clinical vantage point is neglected in that a broad clinical phenotype with respect to, e.g., developmental issues, symptoms and comorbidity is narrowed down to one categorical diagnosis. This is illustrated by the lack of exclusion criteria in genetic studies and by the occurrence of schizophrenia-like psychoses in a broad array of genetic syndromes. In case of 22q11 deletion syndrome, the psychotic symptoms emerge in the context of brain anomalies, a plethora of somatic abnormalities and specific neurocognitive deficits. Prader-Willi syndrome is a hypothalamic disorder in which psychotic symptoms may occur that resemble schizophrenia. It is concluded that not only schizophrenia is a highly variable disease but that the genetic samples are even much more heterogeneous.
现象学一直是研究人员在努力理解精神分裂症时所采用的参考点。尽管症状和体征对于精神分裂症的诊断至关重要，但自克雷佩林试图对症状进行归类以理解精神分裂症的病因以来，一直存在着争论。已经制定了若干操作标准来确立精神分裂症的诊断，这表明不存在精确的症状学界限。几乎没有明确迹象表明哪种系统对基因和其他生物学研究有效。尽管人们付出了巨大努力来寻找精神分裂症与一个或多个基因座之间的联系，但其结果远未得出定论。另一种方法是寻找候选基因，例如DICS1和22q11缺失综合征。然而，在所有关于精神分裂症遗传基础的研究中，临床视角都被忽视了，因为例如在发育问题、症状和共病方面的广泛临床表型被简化为一种分类诊断。这体现在基因研究中缺乏排除标准以及在一系列广泛的遗传综合征中出现类似精神分裂症的精神病性症状。在22q11缺失综合征的情况下，精神病性症状出现在脑异常、大量躯体异常和特定神经认知缺陷的背景下。普拉德 - 威利综合征是一种下丘脑疾病，其中可能出现类似精神分裂症的精神病性症状。得出的结论是，不仅精神分裂症是一种高度可变的疾病，而且基因样本甚至更加异质。
