Lord Catherine, Petkova Eva, Hus Vanessa, Gan Weijin, Lu Feihan, Martin Donna M, Ousley Opal, Guy Lisa, Bernier Raphael, Gerdts Jennifer, Algermissen Molly, Whitaker Agnes, Sutcliffe James S, Warren Zachary, Klin Ami, Saulnier Celine, Hanson Ellen, Hundley Rachel, Piggot Judith, Fombonne Eric, Steiman Mandy, Miles Judith, Kanne Stephen M, Goin-Kochel Robin P, Peters Sarika U, Cook Edwin H, Guter Stephen, Tjernagel Jennifer, Green-Snyder Lee Anne, Bishop Somer, Esler Amy, Gotham Katherine, Luyster Rhiannon, Miller Fiona, Olson Jennifer, Richler Jennifer, Risi Susan
Institute for Brain Development, Weill Cornell Medical College, White Plains, NY 10605-1504, USA.
Arch Gen Psychiatry. 2012 Mar;69(3):306-13. doi: 10.1001/archgenpsychiatry.2011.148. Epub 2011 Nov 7.
Best-estimate clinical diagnoses of specific autism spectrum disorders (autistic disorder, pervasive developmental disorder-not otherwise specified, and Asperger syndrome) have been used as the diagnostic gold standard, even when information from standardized instruments is available.
To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university-based sites.
Multisite observational study collecting clinical phenotype data (diagnostic, developmental, and demographic) for genetic research. Classification trees were used to identify characteristics that predicted diagnosis across and within sites.
Participants were recruited through 12 university-based autism service providers into a genetic study of autism.
A total of 2102 probands (1814 male probands) between 4 and 18 years of age (mean [SD] age, 8.93 [3.5] years) who met autism spectrum criteria on the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule and who had a clinical diagnosis of an autism spectrum disorder.
Best-estimate clinical diagnoses predicted by standardized scores from diagnostic, cognitive, and behavioral measures.
Although distributions of scores on standardized measures were similar across sites, significant site differences emerged in best-estimate clinical diagnoses of specific autism spectrum disorders. Relationships between clinical diagnoses and standardized scores, particularly verbal IQ, language level, and core diagnostic features, varied across sites in weighting of information and cutoffs.
Clinical distinctions among categorical diagnostic subtypes of autism spectrum disorders were not reliable even across sites with well-documented fidelity using standardized diagnostic instruments. Results support the move from existing subgroupings of autism spectrum disorders to dimensional descriptions of core features of social affect and fixated, repetitive behaviors, together with characteristics such as language level and cognitive function.
即使有来自标准化工具的信息，特定自闭症谱系障碍（自闭症障碍、未特定的广泛性发育障碍和阿斯伯格综合征）的最佳估计临床诊断仍被用作诊断金标准。
确定不同自闭症谱系障碍的行为表型与临床诊断之间的关系在12个大学研究点是否存在差异。
多中心观察性研究，收集临床表型数据（诊断、发育和人口统计学数据）用于基因研究。使用分类树来识别在各个研究点及研究点内部预测诊断的特征。
通过12个大学自闭症服务机构招募参与者进入一项自闭症基因研究。
共有2102名年龄在4至18岁（平均[标准差]年龄为8.93[3.5]岁）的先证者（1814名男性先证者），他们在《自闭症诊断访谈修订版》和《自闭症诊断观察量表》上符合自闭症谱系标准，且有自闭症谱系障碍的临床诊断。
由诊断、认知和行为测量的标准化分数预测的最佳估计临床诊断。
尽管各研究点标准化测量的分数分布相似，但在特定自闭症谱系障碍的最佳估计临床诊断中出现了显著的研究点差异。临床诊断与标准化分数之间的关系，尤其是言语智商、语言水平和核心诊断特征，在各研究点的信息权重和临界值方面存在差异。
即使在使用标准化诊断工具且记录良好的研究点之间，自闭症谱系障碍分类诊断亚型的临床区分也不可靠。结果支持从现有的自闭症谱系障碍亚组分类转向对社会情感和固定、重复行为等核心特征的维度描述，以及语言水平和认知功能等特征的描述。
