Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures
Abstract Background Tuberous Sclerosis Complex (TSC) is a rare genetic condition caused by mutation to TSC1 or TSC2 genes, with a population prevalence of 1/7000 births. TSC manifests behaviorally with features of autism, epilepsy, and intellectual disability. Resting state electroencephalography (E...
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BMC
2025-01-01
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| Series: | Journal of Neurodevelopmental Disorders |
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| Online Access: | https://doi.org/10.1186/s11689-025-09590-z |
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| author | Caitlin C. Clements Anne-Michelle Engelstad Carol L. Wilkinson Carly Hyde Megan Hartney Alexandra Simmons Helen Tager-Flusberg Shafali Jeste Charles A. Nelson |
| author_facet | Caitlin C. Clements Anne-Michelle Engelstad Carol L. Wilkinson Carly Hyde Megan Hartney Alexandra Simmons Helen Tager-Flusberg Shafali Jeste Charles A. Nelson |
| author_sort | Caitlin C. Clements |
| collection | DOAJ |
| description | Abstract Background Tuberous Sclerosis Complex (TSC) is a rare genetic condition caused by mutation to TSC1 or TSC2 genes, with a population prevalence of 1/7000 births. TSC manifests behaviorally with features of autism, epilepsy, and intellectual disability. Resting state electroencephalography (EEG) offers a window into neural oscillatory activity and may serve as an intermediate biomarker between gene expression and behavioral manifestations. Such a biomarker could be useful in clinical trials as an endpoint or predictor of treatment response. However, seizures and antiepileptic medications also affect resting neural oscillatory activity and could undermine the utility of resting state EEG features as biomarkers in neurodevelopmental disorders such as TSC. Methods This paper compares resting state EEG features in a cross-sectional cohort of young children with TSC (n = 49, ages 12–37 months) to 49 age- and sex-matched typically developing controls. Within children with TSC, associations were examined between resting state EEG features, seizure severity composite score, and use of GABA agonists. Results Compared to matched typically developing children, children with TSC showed significantly greater beta power in permutation cluster analyses. Children with TSC also showed significantly greater aperiodic offset (reflecting nonoscillatory neuronal firing) after power spectra were parameterized using SpecParam into aperiodic and periodic components. Within children with TSC, both greater seizure severity and use of GABAergic antiepileptic medication were significantly and independently associated with increased periodic peak beta power. Conclusions The elevated peak beta power observed in children with TSC compared to matched typically developing controls may be driven by both seizures and GABA agonist use. It is recommended to collect seizure and medication data alongside EEG data for clinical trials. These results highlight the challenge of using resting state EEG features as biomarkers in trials with neurodevelopmental disabilities when epilepsy and anti-epileptic medication are common. |
| format | Article |
| id | doaj-art-975d50b9a6934947a44d36d6eecaeed5 |
| institution | Kabale University |
| issn | 1866-1955 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Neurodevelopmental Disorders |
| spelling | doaj-art-975d50b9a6934947a44d36d6eecaeed52025-01-19T12:10:46ZengBMCJournal of Neurodevelopmental Disorders1866-19552025-01-0117111310.1186/s11689-025-09590-zResting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizuresCaitlin C. Clements0Anne-Michelle Engelstad1Carol L. Wilkinson2Carly Hyde3Megan Hartney4Alexandra Simmons5Helen Tager-Flusberg6Shafali Jeste7Charles A. Nelson8Department of Psychology, University of Notre DameLaboratories of Cognitive Neuroscience, Division of Developmental Medicine, Boston Children’s HospitalLaboratories of Cognitive Neuroscience, Division of Developmental Medicine, Boston Children’s HospitalSchool of Public Health, UCLALaboratories of Cognitive Neuroscience, Division of Developmental Medicine, Boston Children’s HospitalLaboratories of Cognitive Neuroscience, Division of Developmental Medicine, Boston Children’s HospitalDepartment of Psychological & Brain Sciences, Boston UniversityDepartment of Neurology, Children’s Hospital LALaboratories of Cognitive Neuroscience, Division of Developmental Medicine, Boston Children’s HospitalAbstract Background Tuberous Sclerosis Complex (TSC) is a rare genetic condition caused by mutation to TSC1 or TSC2 genes, with a population prevalence of 1/7000 births. TSC manifests behaviorally with features of autism, epilepsy, and intellectual disability. Resting state electroencephalography (EEG) offers a window into neural oscillatory activity and may serve as an intermediate biomarker between gene expression and behavioral manifestations. Such a biomarker could be useful in clinical trials as an endpoint or predictor of treatment response. However, seizures and antiepileptic medications also affect resting neural oscillatory activity and could undermine the utility of resting state EEG features as biomarkers in neurodevelopmental disorders such as TSC. Methods This paper compares resting state EEG features in a cross-sectional cohort of young children with TSC (n = 49, ages 12–37 months) to 49 age- and sex-matched typically developing controls. Within children with TSC, associations were examined between resting state EEG features, seizure severity composite score, and use of GABA agonists. Results Compared to matched typically developing children, children with TSC showed significantly greater beta power in permutation cluster analyses. Children with TSC also showed significantly greater aperiodic offset (reflecting nonoscillatory neuronal firing) after power spectra were parameterized using SpecParam into aperiodic and periodic components. Within children with TSC, both greater seizure severity and use of GABAergic antiepileptic medication were significantly and independently associated with increased periodic peak beta power. Conclusions The elevated peak beta power observed in children with TSC compared to matched typically developing controls may be driven by both seizures and GABA agonist use. It is recommended to collect seizure and medication data alongside EEG data for clinical trials. These results highlight the challenge of using resting state EEG features as biomarkers in trials with neurodevelopmental disabilities when epilepsy and anti-epileptic medication are common.https://doi.org/10.1186/s11689-025-09590-zTuberous Sclerosis ComplexSeizuresEpilepsyEEGGABA agonistsBiomarker |
| spellingShingle | Caitlin C. Clements Anne-Michelle Engelstad Carol L. Wilkinson Carly Hyde Megan Hartney Alexandra Simmons Helen Tager-Flusberg Shafali Jeste Charles A. Nelson Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures Journal of Neurodevelopmental Disorders Tuberous Sclerosis Complex Seizures Epilepsy EEG GABA agonists Biomarker |
| title | Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures |
| title_full | Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures |
| title_fullStr | Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures |
| title_full_unstemmed | Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures |
| title_short | Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures |
| title_sort | resting state eeg in young children with tuberous sclerosis complex associations with medications and seizures |
| topic | Tuberous Sclerosis Complex Seizures Epilepsy EEG GABA agonists Biomarker |
| url | https://doi.org/10.1186/s11689-025-09590-z |
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