CIUSSS du Nord-de-l'Île-de-Montréal, Montréal, QC, Canada.
Département de psychiatrie et addictologie, Université de Montréal, Montréal, QC, Canada.
Mol Autism. 2024 Apr 3;15(1):15. doi: 10.1186/s13229-024-00592-7.
Clinicians diagnosing autism rely on diagnostic criteria and instruments in combination with an implicit knowledge based on clinical expertise of the specific signs and presentations associated with the condition. This implicit knowledge influences how diagnostic criteria are interpreted, but it cannot be directly observed. Instead, insight into clinicians' understanding of autism can be gained by investigating their diagnostic certainty. Modest correlations between the certainty of an autism diagnosis and symptom load have been previously reported. Here, we investigated the associations of diagnostic certainty with specific items of the ADOS as well as other clinical features including head circumference.
Phenotypic data from the Simons Simplex Collection was used to investigate clinical correlates of diagnostic certainty in individuals diagnosed with Autistic Disorder (n = 1511, age 4 to 18 years). Participants were stratified by the ADOS module used to evaluate them. We investigated how diagnostic certainty was associated with total ADOS scores, age, and ADOS module. We calculated the odds-ratios of being diagnosed with the highest possible certainty given the presence or absence of different signs during the ADOS evaluation. Associations between diagnostic certainty and other cognitive and clinical variables were also assessed.
In each ADOS module, some items showed a larger association with diagnostic certainty than others. Head circumference was significantly higher for individuals with the highest certainty rating across all three ADOS modules. In turn, head circumference was positively correlated with some of the ADOS items that were associated with diagnostic certainty, and was negatively correlated with verbal/nonverbal IQ ratio among those assessed with ADOS module 2.
The investigated cohort was heterogeneous, e.g. in terms of age, IQ, language level, and total ADOS score, which could impede the identification of associations that only exist in a subgroup of the population. The variability of the certainty ratings in the sample was low, limiting the power to identify potential associations with other variables. Additionally, the scoring of diagnostic certainty may vary between clinicians.
Some ADOS items may better capture the signs that are most associated with clinicians' implicit knowledge of Autistic Disorder. If replicated in future studies, new diagnostic instruments with differentiated weighting of signs may be needed to better reflect this, possibly resulting in better specificity in standardized assessments.
临床医生在诊断自闭症时，会结合基于临床专业知识的特定自闭症症状和表现的隐性知识，综合使用诊断标准和工具。这种隐性知识会影响对诊断标准的解读，但无法直接观察到。相反，可以通过调查临床医生对自闭症的诊断把握度来了解他们的理解。先前的研究报告了自闭症诊断把握度与症状负担之间存在适度相关性。在这里，我们调查了自闭症诊断把握度与 ADOS 特定项目以及包括头围在内的其他临床特征之间的关联。
使用来自西蒙斯单倍体集合的表型数据，调查了诊断为自闭症障碍（n=1511 名，年龄 4 至 18 岁）个体的诊断把握度与临床特征的相关性。根据用于评估他们的 ADOS 模块对参与者进行分层。我们调查了诊断把握度与 ADOS 总分、年龄和 ADOS 模块之间的关系。我们计算了在 ADOS 评估期间出现或不出现不同症状时，获得最高诊断把握度的可能性的比值比。还评估了诊断把握度与其他认知和临床变量之间的关联。
在每个 ADOS 模块中，一些项目与诊断把握度的关联比其他项目更大。在所有三个 ADOS 模块中，具有最高确定性评分的个体的头围明显更高。反过来，头围与一些与诊断把握度相关的 ADOS 项目呈正相关，与接受 ADOS 模块 2 评估的个体的言语/非言语智商比呈负相关。
所研究的队列存在异质性，例如年龄、智商、语言水平和 ADOS 总分，这可能会阻碍仅存在于人群亚组中的关联的识别。样本中确定性评分的变异性较低，限制了识别与其他变量的潜在关联的能力。此外，诊断确定性的评分可能因临床医生而异。
一些 ADOS 项目可能更好地捕捉与临床医生对自闭症的隐性知识最相关的迹象。如果在未来的研究中得到复制，可能需要具有差异化加权迹象的新诊断工具，以更好地反映这一点，从而在标准化评估中提高特异性。
