ArticleAnnals of the Child Neurology Society2025
Increased Extra-Axial Cerebrospinal Fluid Volume in Children with Angelman Syndrome: Links to Sleep Problems and Seizures.
Article in Annals of the Child Neurology Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Association between obstructive sleep apnea severity and glymphatic-related DTI-ALPS alterations in newly diagnosed, Drug-Naïve Alzheimer's disease.The journal of prevention of Alzheimer's disease · 2026Article
- Alterations in the DTI-ALPS index and choroid plexus volume are associated with symptom severity in children with tic disorders.BMC neurology · 2026Article
- Pathophysiologic similarities between autism spectrum disorder and Alzheimer's disease: therapeutic possibilities.Frontiers in neuroscience · 2025Article
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Authors and funding
11 authors.
Funding
Abstract
Background: Previous studies demonstrated that children with autism have enlarged volumes of extra-axial cerebrospinal fluid (EA-CSF) and increased ratio of EA-CSF to brain volume, indicating that EA-CSF is disproportionally increased beyond macrocephaly often observed in autism. It is unknown whether EA-CSF is disproportionally enlarged in Angelman syndrome (AS), which shares phenotypic features with autism (sleep problems, seizures) but is characterized by microcephaly. This study examined EA-CSF and total cerebral volume (TCV) in AS children compared to neurotypical (NT) controls to test whether EA-CSF is disproportionally enlarged and is associated with sleep problems and seizures. Methods: MRI scans were acquired in n=29 AS (M[SD]=6.95±2.83 years) and n=27 NT children (M[SD]=7.96±2.24). EA-CSF and TCV were compared using ANCOVA, controlling for age, sex, and group interactions. In AS, associations between EA-CSF, sleep quality, and seizure severity were evaluated by linear regression. Results: Children with AS had 22% smaller TCV ( Conclusion: Children with AS have disproportionally higher EA-CSF volume than would be predicted by their smaller brain size. EA-CSF was associated with sleep problems and seizures, which impact quality of life and are target endpoints of current AS clinical trials. Excessive CSF suggests that CSF circulation might be perturbed in AS, which could have implications for brain waste clearance, as well as impact the biodistribution of AS therapies delivered via CSF.
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