Review Article
Biological and Clinical Subtypes in Autism Spectrum Disorder: A Review of Recent Advances in Phenotypic and Genetic Classification
Vicente Martinez Cardenas*
Issue:
Volume 5, Issue 4, December 2025
Pages:
159-165
Received:
2 October 2025
Accepted:
13 October 2025
Published:
30 October 2025
DOI:
10.11648/j.frontiers.20250504.11
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Abstract: Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by substantial phenotypic and genetic heterogeneity. The recent application of person-centered computational models has allowed the identification of novel clinical subtypes with distinct genetic underpinnings. Objective: To review recent literature on the classification of ASD subtypes through integrative approaches combining clinical, phenotypic, and genomic data, with emphasis on diagnostic, prognostic, and therapeutic implications. Methods: A narrative review of articles published between 2018 and 2024 was conducted in PubMed, Scopus, and Web of Science, using search terms such as “autism subtypes,” “phenotypic clustering,” “genetic architecture in ASD,” and “precision medicine in autism.” Eligible studies included original research, systematic reviews, and meta-analyses. Results: Recent studies have identified at least four robust clinical-biological ASD subtypes using finite mixture modeling and person-centered analyses: (1) social and behavioral challenges, (2) mixed ASD with developmental delay, (3) moderate challenges, and (4) broadly affected subtype. Each group presents distinctive patterns in symptoms, comorbidities, developmental trajectories, and genetic architecture. Both de novo mutations and inherited variants play key roles in molecular differentiation among subtypes. Conclusions: The identification of more homogeneous subgroups within the autism spectrum represents a crucial step toward personalized medicine in ASD. Emerging clinical tools derived from these classifications may enhance prognosis prediction and guide tailored interventions.
Abstract: Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by substantial phenotypic and genetic heterogeneity. The recent application of person-centered computational models has allowed the identification of novel clinical subtypes with distinct genetic underpinnings. Objective: To review recent literature on the ...
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