A probabilistic deep learning approach for choroid plexus segmentation in autism spectrum disorder

The choroid plexus serves as the primary barrier between the brain's blood and cerebrospinal fluid and mediates neuroimmune function. A subset of individuals with autism spectrum disorder (ASD) may exhibit morphological alterations of the choroid plexus. However, to power larger population analyses, an automated tool capable of accurately segmenting the choroid plexus based on magnetic resonance imaging (MRI) is needed. Automated Segmentation of CHOroid PLEXus (ASCHOPLEX) is a deep learning tool that enables finetuning using new, patient-specific, training data, allowing its usage across cohorts for which the model was not originally trained. We evaluated ASCHOPLEX's generalizability to individuals with ASD by performing finetuning on a local dataset of ASD and control (CON) participants. To assess generalizability, we implemented a probabilistic version of the algorithm, which allowed us to quantify the uncertainty in choroid plexus segmentation and evaluate the model's confidence. ASCHOPLEX generalized well to our local dataset, in which all participants were adults. To further assess its performance, we tested the algorithm on the Autism Brain Imaging Data Exchange (ABIDE) dataset, which includes data from children and adults. While ASCHOPLEX performed well in adults, its accuracy declined in children, suggesting limited generalizability to different age groups without additional finetuning. Our findings show that the incorporation of a probabilistic approach during finetuning can strengthen the use of this deep learning tool by providing confidence metrics which allow assessing model reliability. Overall, our findings demonstrate that ASCHOPLEX can generate accurate choroid plexus segmentations in previously unseen data.

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Publication Details

Journal
NPP—Digital Psychiatry and Neuroscience
Published
2026-01-30
DOI
https://doi.org/10.1038/s44277-026-00056-1
Primary Topic
Autism Spectrum Disorder Research
Type
article
Field-Weighted Citation Impact
0.00

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article

A probabilistic deep learning approach for choroid plexus segmentation in autism spectrum disorder

Nicole R. Zürcher, Jacob M. Hooker, Maria Filomena Santarelli, Nicola Vanello et al.
NPP—Digital Psychiatry and Neuroscience
Autism Spectrum Disorder Research
article

A probabilistic deep learning approach for choroid plexus segmentation in autism spectrum disorder

Nicole R. Zürcher, Jacob M. Hooker, Maria Filomena Santarelli, Nicola Vanello, Thomas Morin, Filippo Bargagna, Ylind Lila, Chieh-En J. Tseng, Christopher J. McDougle, Ya-Chin Chen
article en

Abstract

The choroid plexus serves as the primary barrier between the brain's blood and cerebrospinal fluid and mediates neuroimmune function. A subset of individuals with autism spectrum disorder (ASD) may exhibit morphological alterations of the choroid plexus. However, to power larger population analyses, an automated tool capable of accurately segmenting the choroid plexus based on magnetic resonance imaging (MRI) is needed. Automated Segmentation of CHOroid PLEXus (ASCHOPLEX) is a deep learning tool that enables finetuning using new, patient-specific, training data, allowing its usage across cohorts for which the model was not originally trained. We evaluated ASCHOPLEX's generalizability to individuals with ASD by performing finetuning on a local dataset of ASD and control (CON) participants. To assess generalizability, we implemented a probabilistic version of the algorithm, which allowed us to quantify the uncertainty in choroid plexus segmentation and evaluate the model's confidence. ASCHOPLEX generalized well to our local dataset, in which all participants were adults. To further assess its performance, we tested the algorithm on the Autism Brain Imaging Data Exchange (ABIDE) dataset, which includes data from children and adults. While ASCHOPLEX performed well in adults, its accuracy declined in children, suggesting limited generalizability to different age groups without additional finetuning. Our findings show that the incorporation of a probabilistic approach during finetuning can strengthen the use of this deep learning tool by providing confidence metrics which allow assessing model reliability. Overall, our findings demonstrate that ASCHOPLEX can generate accurate choroid plexus segmentations in previously unseen data.

NPP—Digital Psychiatry and NeuroscienceVol. 4(1)
University of Pisa (IT), University Hospital of Basel (CH), Massachusetts General Hospital (US), Istituto di Fisiologia Clinica (IT), Athinoula A. Martinos Center for Biomedical Imaging (US), Fondazione Toscana Gabriele Monasterio (IT), Brandeis University (US), Center for Autism and Related Disorders (US)
Massachusetts Life Sciences Center
Quality Education
Openalex Percentile: Top 72%
Autism Spectrum Disorder Research
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