Beyond the "Gold Standard": Improvements and Advancements in Autism Diagnosis

Autism spectrum disorder (ASD) continues to be one of the most intricate and diverse neurodevelopmental disorders, exhibiting considerable diversity among individuals and settings. Despite the use of "gold-standard" diagnostic tools like the ADOS-2, current diagnostic methods face several challenges; such as false negatives, issues with ecological validity and difficulties in diagnosis in individuals with comorbid conditions. Alongside this, additional factors such as masking and camouflaging confound the clinical picture, sometimes obscuring symptoms until later in life. However, diagnostic methods specifically tailored for adults remain more limited compared to the established tools available for children. To improve the accuracy and timeliness of diagnoses, it is crucial to address these diagnostic limitations.

This Research Topic aims to assess the shortcomings of existing ASD diagnostic frameworks while highlighting innovative approaches to overcome these limitations. We are interested in contributions that explore the impacts of diagnostic overshadowing, cultural biases, and the under-recognition of autism in females and gender-diverse individuals in both research and clinical practice. The goal is to identify areas contributing to misdiagnosis or under-diagnosis and to advocate for methodological and therapeutic advancements that enhance diagnostic accuracy. Submissions may also discuss emerging approaches, such as digital phenotyping, longitudinal studies, or community-based diagnostic innovations, that that go beyond the best tools we have now and move toward more inclusive and representative models.

To gather further insights into the complexities and advancements in ASD diagnosis, we welcome original research, reviews, case series and perspectives addressing, but not limited to, the following themes:

- Clinical studies examining the ecological validity and reliability of diagnostic instruments;

- Investigations into diagnostic overshadowing, masking, and camouflaging;

- Cross-cultural or gender-specific analyses of diagnostic disparities;

- Longitudinal or developmental methodologies for identifying early indicators;

- Methodological advancements such as digital phenotyping or community-informed evaluations;

- Commentaries or viewpoints on the synthesis of nuanced clinical judgment with standardized metrics.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Clinical Trial
• Community Case Study
• Conceptual Analysis
• Data Report
• Editorial
• FAIR² Data
• General Commentary
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Clinical Trial
• Community Case Study
• Conceptual Analysis
• Data Report
• Editorial
• FAIR² Data
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Policy and Practice Reviews
• Registered Report
• Review
• Study Protocol
• Systematic Review

Keywords: autism spectrum disorder, diagnostic tools, ecological validity, diagnostic overshadowing, cultural differences

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.