Department of Neurology, and Lurie Center LADDERS program, Massachusetts General Hospital, Boston, MA 02421, USA.
Neurotherapeutics. 2010 Jul;7(3):320-7. doi: 10.1016/j.nurt.2010.06.001.
Ever since its original description by Leo Kanner in l943, autism has been generally defined by its clinical characteristics and core symptoms that include impaired social skills, isolated areas of interest, and delayed and disordered language. Over time, it has become apparent that autism is a heterogeneous disorder with regard to its clinical presentation, etiology, underlying neurobiology, and degree of severity. As a result, the termed diagnosis of autism spectrum disorders (ASDs) has come into common usage. With advancements in clinical care, there has come the appreciation that many ASD children, adolescents, and adults may have medically relevant disorders that may negatively impact their developmental progress and behavior, but which frequently go undetected. Many of these medical conditions are treatable, often resulting in improved developmental gains and quality of life for the patient and family. In addition, the possibility exists that some of these medical conditions may suggest the presence of important genetic and/or biologic markers, which, if identified, can refine our ability to be more precise in categorizing clinical and genetic subtypes within the autism spectrum.
自莱奥·坎纳（Leo Kanner）于 1943 年首次描述以来，自闭症通常是根据其临床特征和核心症状来定义的，这些特征包括社交技能受损、兴趣范围狭窄以及语言延迟和障碍。随着时间的推移，自闭症在临床表现、病因、潜在神经生物学和严重程度方面表现出明显的异质性，这已变得显而易见。因此，自闭症谱系障碍（ASD）这一术语诊断已被广泛使用。随着临床护理的进步，人们开始认识到，许多自闭症儿童、青少年和成年人可能存在与医学相关的疾病，这些疾病可能会对他们的发育进展和行为产生负面影响，但往往未被发现。许多这些医疗条件是可以治疗的，通常会为患者和家庭带来更好的发育收益和生活质量。此外，这些医疗条件的存在可能性表明存在重要的遗传和/或生物学标志物，如果确定了这些标志物，就可以提高我们对自闭症谱系中临床和遗传亚型进行更精确分类的能力。
