09/03/2025
There is a growing body of research highlighting the significant overlap between autism and Paediatric Acute-Onset Neuropsychiatric Syndrome (PANS), with studies indicating that a notable proportion of children with autism also meet diagnostic criteria for PANS, and both conditions can share symptoms like sudden behavioral changes and .
The recent paper by Han et al. investigated the biological underpinnings of PANS, a condition often triggered by infection or stress. The study compared children with PANS and other neurodevelopmental disorders to neurotypical controls, finding that both PANS and non-PANS groups reported higher rates of early and regression in development than controls, highlighting a shared vulnerability in neurodevelopmental trajectories among affected children.
A key discovery from the study is the identification of abnormal gene expression patterns in children with PANS. While standard immune tests were typically normal, advanced RNA sequencing showed an upregulation of genes involved in ribosomal biogenesis and RNA methyltransferases, alongside a downregulation in functions related to activity, cell signalling, and immunological responses.
Single-cell analyses confirmed these findings and revealed that the changes varied across different immune cell types. Immune cells from PANS patients showed blunted responses to stimulation, indicating a dysregulated that does not mount typical inflammatory reactions.
Further, RNA sequencing before and after treatment in PANS patients demonstrated a reversal of several dysfunctional cellular pathways, including those related to ribosomes, epigenetics. This suggests that some of the molecular abnormalities seen in PANS may be treatable or at least modifiable with targeted therapies.
The significance of this study for is its revelation of shared molecular characteristics between PANS and other neurodevelopmental disorders, pointing to common pathways involving epigenetic and immune system issues. By emphasizing how immune dysregulation influences brain development, the findings encourage exploration of new treatment approaches—like immune-modulating or epigenetic therapies—that could improve outcomes and reduce neuropsychiatric challenges in conditions involving developmentalr egression, including certain cases of autism.
Velda Han, Sarah Alshammery, PhD, Markus Hofer, Russell Dale et al. Epigenetic, ribosomal, and immune dysregulation in paediatric acute-onset neuropsychiatric syndrome. Mol Psychiatry (2025). https://doi.org/10.1038/s41380-025-03127-5