Rapoport Judith, Chavez Alex, Greenstein Deanna, Addington Anjene, Gogtay Nitin
Child Psychiatry Branch, National Institute of Mental Health, Bethesda, MD 20892, USA.
J Am Acad Child Adolesc Psychiatry. 2009 Jan;48(1):10-8. doi: 10.1097/CHI.0b013e31818b1c63.
To highlight emerging evidence for clinical and biological links between autism/pervasive developmental disorder (PDD) and schizophrenia, with particular attention to childhood-onset schizophrenia (COS).
Clinical, demographic, and brain developmental data from the National Institute of Mental Health (and other) COS studies and selected family, imaging, and genetic data from studies of autism, PDD, and schizophrenia were reviewed.
In the two large studies that have examined this systematically, COS is preceded by and comorbid with PDD in 30% to 50% of cases. Epidemiological and family studies find association between the disorders. Both disorders have evidence of accelerated trajectories of anatomic brain development at ages near disorder onset. A growing number of risk genes and/or rare small chromosomal variants (microdeletions or duplications) are shared by schizophrenia and autism.
Biological risk does not closely follow DSM phenotypes, and core neurobiological processes are likely common for subsets of these two heterogeneous clinical groups. Long-term prospective follow-up of autistic populations and greater diagnostic distinction between schizophrenia spectrum and autism spectrum disorders in adult relatives are needed.
强调自闭症/广泛性发育障碍（PDD）与精神分裂症之间临床及生物学联系的新证据，尤其关注儿童期起病的精神分裂症（COS）。
回顾了美国国立精神卫生研究所（及其他机构）COS研究的临床、人口统计学及脑发育数据，以及自闭症、PDD和精神分裂症研究中选取的家族、影像学及遗传学数据。
在两项对此进行系统研究的大型研究中，30%至50%的COS病例之前患有PDD且二者并存。流行病学和家族研究发现这两种疾病之间存在关联。两种疾病在接近发病年龄时均有脑解剖发育轨迹加速的证据。精神分裂症和自闭症有越来越多的风险基因和/或罕见的小染色体变异（微缺失或微重复）。
生物学风险并不严格遵循《精神疾病诊断与统计手册》的表型，这两个异质性临床组的部分人群可能存在共同的核心神经生物学过程。需要对自闭症人群进行长期前瞻性随访，并在成年亲属中对精神分裂症谱系障碍和自闭症谱系障碍进行更明确的诊断区分。
