Departments of Genetics and Psychiatry, University of North Carolina at Chapel Hill, and Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm (Sullivan); Medical Research Center for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Wales, United Kingdom (Owen).
Am J Psychiatry. 2020 Mar 1;177(3):204-209. doi: 10.1176/appi.ajp.2019.19040335.
Specific copy number variants (CNVs) have been robustly associated with intellectual disability, autism, and schizophrenia. Most of the literature focus has been on documenting the existence of these phenomena. There are few data to guide therapeutic choices for these “orphan” diseases. We call for systematic and longitudinal case reports which, if carefully conducted, may provide crucial initial knowledge to guide therapeutics. We provide a step-by-step overview, a tailored set of consensus criteria for high-quality case reports, and a specific set of learning resources.
特定的拷贝数变异（CNVs）与智力障碍、自闭症和精神分裂症有很强的关联。大多数文献都集中在记录这些现象的存在。对于这些“孤儿”疾病，很少有数据可以指导治疗选择。我们呼吁系统和纵向的病例报告，如果仔细进行，可能会提供关键的初始知识，以指导治疗。我们提供了一个逐步概述、一套针对高质量病例报告的定制共识标准以及一套特定的学习资源。
