Frigaux A, Evrard R, Lighezzolo-Alnot J
Laboratoire INTERPSY EA 4432, université de Lorraine, 23, boulevard Albert-1er, BP 13397, 54015 Nancy cedex, France.
Laboratoire INTERPSY EA 4432, université de Lorraine, 23, boulevard Albert-1er, BP 13397, 54015 Nancy cedex, France.
Encephale. 2019 Nov;45(5):441-448. doi: 10.1016/j.encep.2019.07.002. Epub 2019 Sep 5.
Current developments in international public health are leading qualified authorities to release clinical practice guidelines for Autism Spectrum Disorders (ASD) assessment and diagnosis. Such documents incorporate procedures that rely on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) which are considered to be the "gold standard" assessment measures in the evaluation of ASD. Although these tools do prove their effectiveness in the evaluation of autistic symptomatology, they nevertheless stumble whenever the situation becomes more complex and reveal differential diagnostic issues in infantile and adult autism cases. This differential diagnostic issue remains significant in the clinical practice of daily life and has strong implications for the course of therapeutic treatment.
Our objective is to underline and nuance the metrological qualities of the ADI-R and the ADOS in the differential diagnosis of autistic disorders by presenting a synthesis of recent studies, thus supporting the interest of maintaining an open debate on diagnostic practices.
Our selective review of the recent literature focuses on studies that confront the ADI-R and the ADOS - used either independently or in a combination - with various differential issues in adulthood and childhood autism in order to highlight their qualities and limits.
The ADI-R is a semi-structured interview applied by trained examiners and applied to relatives and/or caregivers who collect developmental information about the patient's first years of life on a variety of behaviors and skills. It is therefore relatively dependent on the availability and personal bias of the interviewed third parties. Metric features highlighted by the reviewed studies straightforwardly reveal a certain effectiveness of the tool and a good discrimination of childhood disorders. At the same time, the tool's discriminatory capacity seems insufficient when applied to toddlers, very young children, and adults alike. The latter seems particularly true when it comes to differentiating between autistic and schizophrenic spectrum disorders. The ADOS is a semi-structured standardized observation assessment tool that has experienced several successive developments, such as optimizations concerning the sensitivity of its cutoffs. Many works have contributed to building such a tool with reliable and solid metric qualities which nevertheless retain important biases such as the subjectivity of the caregiver or the evaluator during the scoring process. For assessments of autistic children the tool still has a good diagnostic validity but seems to retain cases of incorrect diagnosis of ASD (false positives). In other words, disorders or developmental disabilities of some children and adolescents could not be distinguished from ASD when relying on this test alone. The ADOS Module 4, designed for the diagnosis of adolescents and adults with fluent speech, has undergone less updating. This revisited algorithm has metrological qualities useful for clinicians and remains one of the few available tools for this population. Unfortunately, its diagnostic accuracy is lower when applied to women, the elderly, people with personality disorders or higher intellectual abilities, or for the discrimination between ASD and schizophrenia. Overall, scores from these two instruments bring strong evidence of their usefulness in the diagnostic process of ASD, provided that they are used with caution and a critical clinical perspective, and only as a secondary technical support. Their use in combination is effective since they are complementary and compensate for each other's limitations. However, their globalized hegemony as "gold-standard" tools constitutes a setback insofar as it constrains the diagnosis of ASD to a set of stereotyped items. The latter in turn sets a normative model of autism that excludes other phenotypic forms, especially in the case of women and the elderly. Finally, the discrimination between autism and psychosis for children seems to remain an insoluble task even for the ADI-R/ADOS combination.
The problematics of differential diagnosis remain critical for clinical approaches to autism. Therefore, formalizations of the diagnostic procedures must be able to remain open-minded and accompanied by a creative clinical approach, especially in the case of complex situations that are not soluble by means of conventional diagnostic tools. One possibility may lie in the deepening of the phenomenological approach to autism as an attempt to model the subjective phenomena of autistic subjects and thus operationalize elements that serve the diagnostic process. In the same way, a psychodynamic epistemology could help clinicians to go beyond the consideration of observable behaviors and scores, introducing a psychoanalytic point of view that interfaces objective behaviors with the individual's dynamic intrapsychic functioning. This project could be articulated with projective methodologies - notably the Rorschach test - which respects the needs for standardization and quantification of conventionally used diagnostic tools.
国际公共卫生领域的当前发展促使权威机构发布了自闭症谱系障碍(ASD)评估和诊断的临床实践指南。此类文件纳入了依赖于修订版自闭症诊断访谈(ADI-R)和自闭症诊断观察量表(ADOS)的程序,这两种工具在ASD评估中被视为“金标准”评估手段。尽管这些工具在评估自闭症症状方面确实证明了其有效性,但每当情况变得更加复杂时,它们就会遇到问题,并在婴幼儿和成人自闭症病例中揭示出鉴别诊断问题。这种鉴别诊断问题在日常生活的临床实践中仍然很重要,并且对治疗过程有重大影响。
我们的目的是通过对近期研究进行综述,强调并细化ADI-R和ADOS在自闭症谱系障碍鉴别诊断中的计量学特性,从而支持对诊断实践进行公开辩论的意义。
我们对近期文献的选择性综述聚焦于将ADI-R和ADOS单独或联合使用,以应对成年和儿童自闭症中各种鉴别问题的研究,以便突出它们的优点和局限性。
ADI-R是一种由经过培训的检查人员进行的半结构化访谈,应用于亲属和/或照顾者,他们收集有关患者早年生活中各种行为和技能的发育信息。因此,它相对依赖于受访第三方的可用性和个人偏见。综述研究突出的计量学特征直接显示了该工具的一定有效性以及对儿童期障碍的良好鉴别能力。同时,当应用于幼儿、非常年幼的儿童和成年人时该工具的鉴别能力似乎不足。在区分自闭症和精神分裂症谱系障碍时尤其如此。ADOS是一种半结构化的标准化观察评估工具,经历了多次连续发展,例如对其临界值敏感性的优化。许多研究致力于构建这样一个具有可靠和坚实计量学特性的工具,但在评分过程中仍存在重要偏差,如照顾者或评估者的主观性。对于自闭症儿童的评估,该工具仍然具有良好的诊断效度,但似乎仍存在对ASD的误诊情况(假阳性)。换句话说,仅依靠该测试无法区分一些儿童和青少年的障碍或发育残疾与ASD。为诊断言语流畅的青少年和成年人而设计的ADOS模块4更新较少。这种经过重新审视的算法具有对临床医生有用的计量学特性,并且仍然是针对该人群的少数可用工具之一。不幸的是,当应用于女性、老年人、患有精神障碍或智力较高的人,或用于区分ASD和精神分裂症时,其诊断准确性较低。总体而言,这两种工具的得分有力地证明了它们在ASD诊断过程中的有用性,前提是谨慎使用并以批判性的临床视角使用,且仅作为辅助技术支持。它们联合使用是有效的,因为它们相互补充并弥补彼此的局限性。然而,它们作为“金标准”工具的全球化主导地位是一个挫折,因为它将ASD的诊断限制在一组刻板的项目上。后者反过来设定了一种自闭症的规范模型,排除了其他表型形式,特别是在女性和老年人的情况下。最后,即使对于ADI-R/ADOS组合,区分儿童自闭症和精神病似乎仍然是一项无法解决的任务。
鉴别诊断问题对于自闭症的临床方法仍然至关重要。因此,诊断程序的形式化必须能够保持开放的心态,并辅以创造性的临床方法,特别是在复杂情况无法通过传统诊断工具解决的情况下。一种可能性可能在于深化对自闭症的现象学方法,试图对自闭症患者的主观现象进行建模,从而将有助于诊断过程的要素操作化。同样,精神动力学认识论可以帮助临床医生超越对可观察行为和分数的考虑,引入一种将客观行为与个体动态心理功能相联系的精神分析观点。这个项目可以与投射方法(特别是罗夏测验)相结合,该方法尊重传统诊断工具对标准化和量化的需求。