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Background <p>Myelomeningocele (MMC) is a congenital neural tube defect frequently associated with Chiari II malformation and corpus callosum (CC) abnormalities. These structural brain anomalies are suspected to contribute significantly to long-term cognitive impairments, yet their distinct effects remain underexplored. This review seeks to provide a comprehensive evaluation of the literature exploring the relationship between Chiari II malformation, CC&#xa0;abnormalities, and their influence on long-term cognitive outcomes in children and young adults with MMC.</p> Methods <p>An electronic search was conducted in PubMed, Embase, Web of Science, and Cochrane Library through May 2025. Studies were included if they assessed cognitive outcomes in individuals with MMC aged ≥ 5&#xa0;years and reported Chiari II and/or CC anomalies via neuroimaging. A total of 74 studies met the inclusion criteria. Data extraction and quality assessment were performed using the Newcastle–Ottawa Scale. Due to heterogeneity, a narrative synthesis was conducted.</p> Results <p>Chiari II malformation was consistently associated with deficits in visuospatial skills, executive function, and processing speed. CC abnormalities, particularly splenial and posterior callosal dysgenesis, were linked to impaired interhemispheric transfer and slower cognitive processing. Diffusion Tensor Imaging (DTI) revealed significant microstructural white matter alterations correlated with cognitive scores. Functional Magnetic Resonance Imaging (fMRI) studies demonstrated altered connectivity in default mode and executive networks.</p> Conclusion <p>Chiari II and CC anomalies are critical determinants of cognitive outcomes in MMC, independent of hydrocephalus. Longitudinal, multimodal imaging studies are needed to clarify developmental trajectories and support early neuropsychological interventions tailored to structural biomarkers.</p>

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Long-term cognitive outcomes of Chiari II malformation and corpus callosum abnormalities in myelomeningocele

  • 期刊论文

  • 发表日期：

    2025年12月3日

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  • Eren Ogut

摘要

Background

Myelomeningocele (MMC) is a congenital neural tube defect frequently associated with Chiari II malformation and corpus callosum (CC) abnormalities. These structural brain anomalies are suspected to contribute significantly to long-term cognitive impairments, yet their distinct effects remain underexplored. This review seeks to provide a comprehensive evaluation of the literature exploring the relationship between Chiari II malformation, CC abnormalities, and their influence on long-term cognitive outcomes in children and young adults with MMC.

Methods

An electronic search was conducted in PubMed, Embase, Web of Science, and Cochrane Library through May 2025. Studies were included if they assessed cognitive outcomes in individuals with MMC aged ≥ 5 years and reported Chiari II and/or CC anomalies via neuroimaging. A total of 74 studies met the inclusion criteria. Data extraction and quality assessment were performed using the Newcastle–Ottawa Scale. Due to heterogeneity, a narrative synthesis was conducted.

Results

Chiari II malformation was consistently associated with deficits in visuospatial skills, executive function, and processing speed. CC abnormalities, particularly splenial and posterior callosal dysgenesis, were linked to impaired interhemispheric transfer and slower cognitive processing. Diffusion Tensor Imaging (DTI) revealed significant microstructural white matter alterations correlated with cognitive scores. Functional Magnetic Resonance Imaging (fMRI) studies demonstrated altered connectivity in default mode and executive networks.

Conclusion

Chiari II and CC anomalies are critical determinants of cognitive outcomes in MMC, independent of hydrocephalus. Longitudinal, multimodal imaging studies are needed to clarify developmental trajectories and support early neuropsychological interventions tailored to structural biomarkers.