REVIEW article
Front. Neurosci.
Sec. Neurodevelopment
Volume 19 - 2025 | doi: 10.3389/fnins.2025.1586550
Mechanisms of Brain Overgrowth in Autism Spectrum Disorder with Macrocephaly
Provisionally accepted
- School of Biomedical Sciences, The University of Queensland, Brisbane, Australia
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Autism spectrum disorder (ASD) is a highly prevalent human disorder with extensive clinical and genetic heterogeneity. One notable ASD subgroup that often manifest with more severe symptoms comprises individuals with an enlarged head (macrocephaly), often accompanied by an enlarged brain (megalencephaly). Here, we focus on the macrocephalic ASD subgroup and discuss the biological processes that may underlie brain overgrowth in individuals with ASD, including excess neurogenesis or gliogenesis, decreased cell death, neuronal hypertrophy, and elevated myelination. We also discuss the signalling and epigenetic pathways implicated in macrocephalic ASD. By examining the biological processes and the molecular pathways involved we seek to provide insight into the mechanisms underpinning macrocephalic ASD.
Keywords: ASD, Megalencephaly, Overgrowth, Neurogenesis, autism (autism spectrum disorders)
Received: 03 Mar 2025; Accepted: 19 May 2025.
Copyright: © 2025 Thor, Currey, Harvey, Pelenyi and Piper. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Stefan Thor, School of Biomedical Sciences, The University of Queensland, Brisbane, Australia
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.