Reiss Allan L
Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, 401 Quarry Road, Stanford, CA 94305, USA.
J Child Psychol Psychiatry. 2009 Jan;50(1-2):87-98. doi: 10.1111/j.1469-7610.2008.02046.x.
Significant advances in understanding brain development and behavior have not been accompanied by revisions of traditional academic structure. Disciplinary isolation and a lack of meaningful interdisciplinary opportunities are persistent barriers in academic medicine. To enhance clinical practice, research, and training for the next generation, academic centers will need to take bold steps that challenge traditional departmental boundaries. Such change is not only desirable but, in fact, necessary to bring about a truly innovative and more effective approach to treating disorders of the developing brain.
I focus on developmental disorders as a convergence point for transcending traditional academic boundaries. First, the current taxonomy of developmental disorders is described with emphasis on how current diagnostic systems inadvertently hinder research progress. Second, I describe the clinical features of autism, a phenomenologically defined condition, and Rett and fragile X syndromes, neurogenetic diseases that are risk factors for autism. Finally, I describe how the fields of psychiatry, psychology, neurology, and pediatrics now have an unprecedented opportunity to promote an interdisciplinary approach to training, research, and clinical practice and, thus, advance a deeper understanding of developmental disorders.
Research focused on autism is increasingly demonstrating the heterogeneity of individuals diagnosed by DSM criteria. This heterogeneity hinders the ability of investigators to replicate research results as well as progress towards more effective, etiology-specific interventions. In contrast, fragile X and Rett syndromes are 'real' diseases for which advances in research are rapidly accelerating towards more disease-specific human treatment trials.
A major paradigm shift is required to improve our ability to diagnose and treat individuals with developmental disorders. This paradigm shift must take place at all levels - training, research and clinical activity. As clinicians and scientists who are currently constrained by disciplinary-specific history and training, we must move towards redefining ourselves as clinical neuroscientists with shared interests and expertise that permit a more cohesive and effective approach to improving the lives of patients.
在理解大脑发育与行为方面取得了重大进展,但传统学术结构却未得到修订。学科隔离以及缺乏有意义的跨学科机会,一直是学术医学领域存在的障碍。为了加强临床实践、研究以及下一代的培训,学术中心需要采取大胆举措,挑战传统的部门界限。这种变革不仅是可取的,而且事实上对于实现一种真正创新且更有效的治疗发育性脑疾病的方法而言是必要的。
我将发育障碍作为超越传统学术界限的交汇点。首先,描述发育障碍的当前分类法,重点在于当前诊断系统如何无意中阻碍了研究进展。其次,我描述自闭症(一种现象学定义的病症)以及雷特综合征和脆性X综合征(作为自闭症风险因素的神经遗传性疾病)的临床特征。最后,我描述精神病学、心理学、神经病学和儿科学领域现在如何拥有前所未有的机会来推动培训、研究和临床实践的跨学科方法,从而加深对发育障碍的理解。
专注于自闭症的研究越来越多地表明,按照《精神疾病诊断与统计手册》(DSM)标准诊断的个体具有异质性。这种异质性阻碍了研究人员复制研究结果的能力,以及在朝着更有效、针对病因的干预措施方面取得进展。相比之下,脆性X综合征和雷特综合征是“真正的”疾病,针对它们的研究进展正迅速加快,朝着更具疾病特异性的人体治疗试验发展。
需要进行重大的范式转变,以提高我们诊断和治疗发育障碍个体的能力。这种范式转变必须在培训、研究和临床活动的各个层面发生。作为目前受特定学科历史和培训限制的临床医生和科学家,我们必须朝着将自己重新定义为临床神经科学家的方向迈进,拥有共同的兴趣和专业知识,以便采取更具凝聚力和有效性的方法来改善患者的生活。