Annual Research Review: The transdiagnostic revolution in neurodevelopmental disorders
Duncan Edward Astle, Joni Holmes, Rogier Kievit, Susan Elizabeth Gathercole · 2021 · 394 citationsRead the paper
Practitioners frequently use diagnostic criteria to identify children with neurodevelopmental disorders and to guide intervention decisions. These criteria also provide the organising framework for much of the research focussing on these disorders. Study design, recruitment, analysis and theory are largely built on the assumption that diagnostic criteria reflect an underlying reality. However, there is growing concern that this assumption may not be a valid and that an alternative transdiagnostic approach may better serve our understanding of this large heterogeneous population of young people. This review draws on important developments over the past decade that have set the stage for much-needed breakthroughs in understanding neurodevelopmental disorders. We evaluate contemporary approaches to study design and recruitment, review the use of data-driven methods to characterise cognition, behaviour and neurobiology, and consider what alternative transdiagnostic models could mean for children and families. This review concludes that an overreliance on ill-fitting diagnostic criteria is impeding progress towards identifying the barriers that children encounter, understanding underpinning mechanisms and finding the best route to supporting them.
What the full text shows
Shown in the lab- Data-driven hierarchical clustering of children with ADHD, autism, or OCD identified new groupings based on cortical morphology, inattention, and social skills with little overlap with original diagnostic status. (Diagnosis-blind study using children with ADHD, autism, or OCD and typically developing children)
- Criterial ADHD symptoms of inattention and hyperactivity are highly common across various neurodevelopmentally at-risk populations, including those with autism and reading disorders. (Studies using recruitment designs that straddle conventional diagnostic boundaries)
- Functional recruitment based on needs in attention, learning, or memory captures a more representative heterogeneous population than diagnostic criteria. — Approximately 1/3 of 800 recruited children had an ADHD diagnosis (CALM project sampling frame)
- Executive functioning is a widely reported transdiagnostic dimension cutting across ADHD, Conduct Disorder, Oppositional Defiant Disorder, autism, and the general population. (Cross-disorder neuropsychiatric trait analysis)
- Setup
- Review of multiple studies, including the CALM project (n=800 school-aged children) and various cross-disorder cohorts.
- How
- The paper is a research review evaluating transdiagnostic approaches, including diagnosis-blind studies, functional recruitment, latent factor analysis, and hierarchical clustering. It discusses the shift from categorical diagnostic taxonomies to dimensional and data-driven models of neurodevelopment.
- Limitations
- Difficulty in establishing the appropriate conceptual level for disorders characterized by behavior and cognition · High degrees of overlap in assessment methods and component processes for cognitive constructs · Data-driven methods are heavily dependent on the quality and sensitivity of the underlying cognitive and behavioral measures · Causal heterogeneity means a single phenotype (cluster/dimension) may result from multiple converging pathways
Summarized by Gemma 4 from the open-access full text · 2 Oct 2026. Read it