孤独症谱系障碍跨时间诊断一致性研究

A study of the intertemporal consistency in the diagnosis of autism spectrum disorder

目的了解孤独症谱系障碍(ASD)跨时间的诊断一致性,分析其误诊及漏诊情况。方法采用回顾性分析方法,分析2014年1月1日至2018年9月30日在深圳市妇幼保健院诊断为ASD的3 163例儿童就诊情况,其中483例相隔1年以后再次进行ASD的诊断评估,采用秩和检验或卡方检验等统计学方法,比较不同诊断月龄段(<24、24~、36~、>72月龄)2次诊断的符合率、误诊率和漏诊率,分析不同诊断月龄段具体诊断错误情况。结果首次诊断年龄为39.00(29.04,56.04)个月,第2次诊断年龄为54.07(43.83,69.03)个月,2次诊断间隔时间17.78(14.33,24.94)个月。2次ASD诊断符合率86.96%,误诊28例,误诊率5.80%,漏诊35例,漏诊率7.25%。<24月龄段及>72月龄段的误诊率高于24~月龄段及36~月龄段(χ^2=8.316,P=0.040)。各月龄段之间漏诊率差异无统计学意义(χ^2=1.358,P=0.715)。共误诊28例儿童,<24月龄段及24~月龄段在初诊时因其他发育障碍误诊为ASD的高于>72月龄段,>72月龄段则在初诊时将注意缺陷多动障碍和情绪障碍误诊为ASD高于<36月龄以下各年龄段(P=0.009)。共漏诊35例,<24月龄段和24~月龄段在初诊时将ASD误诊为发育问题的高于>72月龄段,>72月龄段初诊时ASD误诊为注意缺陷多动障碍和情绪障碍高于<36月龄各年龄段(P=0.008)。结论ASD间隔17.78个月的诊断一致性高,包括1岁阶段诊断的患儿;在低年龄阶段的幼儿,ASD容易与其他发育障碍混淆,>72月龄儿童ASD容易与注意缺陷多动障碍和情绪障碍混淆,导致误诊或漏诊。

Objective To understand the cross-time diagnosis stability of autism spectrum disorder (ASD), and analyze the situation of misdiagnosis and missed diagnosis.Methods A retrospective analysis was carried out to analyze 3 163 children who were first time diagnosed as ASD in Shenzhen Maternal and Child Health Care Hospital from January 2014 to September 2018. 463 cases of ASD were evaluated again after one year apart. Statistical methods such as rank sum test or chi-square test were used to compare the coincidence rate, misdiagnosis rate and missed diagnosis rate among different age groups. Misdiagnosis was analyzed among different age groups.Results The mean age of the first diagnosis was 39.00 (29.04, 56.04) months, and the mean age of second diagnosis was 54.07 (43.83, 69.03) months. The interval time between the two diagnoses was 17.78 (14.33, 24.94) months. The diagnosis coincidence rate of ASD was 86.96%, the misdiagnosis rate was 5.80%, and the missed diagnosis rate was 7.25%. The misdiagnosis rates of<24-month-old group and >72-month-old group were higher than that of 24-month-old group and 36-month-old group (χ^2=8.316, P=0.040). There was no difference in missed diagnosis rate between each group (χ^2=1.358, P=0.715). 28 children were misdiagnosed, <24-month-old group and 24-month-old group were liable to misdiagnosis as the other developmental disorders than >72-month-old group. While>72-month-old group was liable to misdiagnosis as Attention Deficit Hyperactivity Disorder (ADHD) or emotional disorder than these two group (P=0.009). 35 children were missed diagnosis, <24-month-old group and 24-month-old group were liable to missed diagnosis than >72-month-old group because of developmental problem,while >72-month-old group was liable to missed diagnosis because of ADHD or emotional disorder (P=0.008).Conclusion The diagnostic consistency of ASD with the interval period of 17.78 months, including the initial diagnosis in children younger than 1 year old, is pretty high. ASD is liable to be confused with other developmental disorders at the younger age. When order than 72 months-old, ASD is liable to be confused with ADHD or emotional disorders.