Pub Date : 2025-12-19DOI: 10.1016/j.pediatrneurol.2025.12.009
James W. Varni PhD , Kathy Zebracki PhD , Miriam Hwang MD, PhD , M.J. Mulcahey PhD , Lawrence C. Vogel MD
Background
The study tests a conceptual model in which daily activities and mobility serve as mediators or intervening variables in the association between pain intensity and psychosocial health in young people with spinal cord injury (SCI). A moderated mediation conceptual model is also tested with biological sex as the moderator variable.
Methods
The Pain Intensity Item, Daily Activities Scale and Mobility Scale from the Pediatric Quality of Life Inventory SCI Module and the Pediatric Quality of Life Inventory Generic Core Scales Psychosocial Health Summary Score were completed by 125 young people with SCI ages 8-24 years with an average age of 17.84 years.
Results
The findings demonstrate that daily activities and mobility mediate the predictive effects of pain intensity on psychosocial health in young people with SCI. For the full mediator models consisting of age, sex, race/ethnicity demographic covariates, and pain intensity, the daily activities and mobility mediation models separately accounted for 39 percent and 28 percent, respectively, of the variance in psychosocial health, representing large effect sizes. Biological sex was not found to be a significant moderator of the mediation effects, and hence the mediator effects were not conditional on biological sex.
Conclusions
Daily activities and mobility explain in part the mechanism of pain predictive effects on psychosocial health in young people with SCI. Targeting mediators of pain intensity on psychosocial health from the perspective of children, adolescents, and young adults with SCI may inform clinical interventions and future clinical research to improve daily functioning and psychosocial health for these young people.
{"title":"Pain, Daily Activities, Mobility, and Psychosocial Health in Young People With Spinal Cord Injury: A Test of Biological Sex in a Moderated Mediation Analysis","authors":"James W. Varni PhD , Kathy Zebracki PhD , Miriam Hwang MD, PhD , M.J. Mulcahey PhD , Lawrence C. Vogel MD","doi":"10.1016/j.pediatrneurol.2025.12.009","DOIUrl":"10.1016/j.pediatrneurol.2025.12.009","url":null,"abstract":"<div><h3>Background</h3><div>The study tests a conceptual model in which daily activities and mobility serve as mediators or intervening variables in the association between pain intensity and psychosocial health in young people with spinal cord injury (SCI). A moderated mediation conceptual model is also tested with biological sex as the moderator variable.</div></div><div><h3>Methods</h3><div>The Pain Intensity Item, Daily Activities Scale and Mobility Scale from the Pediatric Quality of Life Inventory SCI Module and the Pediatric Quality of Life Inventory Generic Core Scales Psychosocial Health Summary Score were completed by 125 young people with SCI ages 8-24 years with an average age of 17.84 years.</div></div><div><h3>Results</h3><div>The findings demonstrate that daily activities and mobility mediate the predictive effects of pain intensity on psychosocial health in young people with SCI. For the full mediator models consisting of age, sex, race/ethnicity demographic covariates, and pain intensity, the daily activities and mobility mediation models separately accounted for 39 percent and 28 percent, respectively, of the variance in psychosocial health, representing large effect sizes. Biological sex was not found to be a significant moderator of the mediation effects, and hence the mediator effects were not conditional on biological sex.</div></div><div><h3>Conclusions</h3><div>Daily activities and mobility explain in part the mechanism of pain predictive effects on psychosocial health in young people with SCI. Targeting mediators of pain intensity on psychosocial health from the perspective of children, adolescents, and young adults with SCI may inform clinical interventions and future clinical research to improve daily functioning and psychosocial health for these young people.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 22-28"},"PeriodicalIF":2.1,"publicationDate":"2025-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145918188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-17DOI: 10.1016/j.pediatrneurol.2025.12.005
Jia Yi Tonkin MBChB , Lauren Taylor MBBS , Emma Macdonald-Laurs MBChB, PhD
Background
Cerebral cavernous malformations (CCMs) are vascular malformations occurring sporadically, or secondary to a familial cavernoma syndrome. While focal seizures are commonly associated with CCMs, epileptic spasms are rare.
Methods
We report four patients with epileptic spasms associated with CCM. All four patients were female and developed epileptic spasms aged 5 months, 17 months, 9 years, and 10 years.
Results
The 17-month-old presented with raised intracranial pressure aged 4 months, with a magnetic resonance imaging demonstrating a giant left hemisphere CCM in the context of a familial cavernoma syndrome. She developed epileptic spasms aged 17 months with developmental regression and hypsarrhythmia on electroencephalogram. The 10-year-old presented with epileptic spasms following several years of focal seizures associated with a solitary CCM in the left precuneus. The five-month-old presented with infantile epileptic spasms syndrome with a modified hypsarrhythmia and a CCM in the left temporal lobe in the context of a familial cavernoma syndrome. The nine-year-old presented with focal seizures followed by a period of altered awareness associated with periodic complexes on electroencephalogram associated with a CCM in the right precuneus. All patients underwent epilepsy surgery to remove their CCM and surrounding hemosiderin-stained cortex. Epileptic spasms resolved following resective surgery in all, although one child continued to have focal seizures.
Conclusion
These cases demonstrate that CCM may rarely present with epileptic spasms. Factors potentially predisposing to the development of epileptic spasms, rather than focal epilepsies include large lesion volume, lesion location within the precuneus, and the presence of a familial cavernoma syndrome.
{"title":"Cerebral Cavernous Malformations Presenting With Epileptic Spasms in Children","authors":"Jia Yi Tonkin MBChB , Lauren Taylor MBBS , Emma Macdonald-Laurs MBChB, PhD","doi":"10.1016/j.pediatrneurol.2025.12.005","DOIUrl":"10.1016/j.pediatrneurol.2025.12.005","url":null,"abstract":"<div><h3>Background</h3><div>Cerebral cavernous malformations (CCMs) are vascular malformations occurring sporadically, or secondary to a familial cavernoma syndrome. While focal seizures are commonly associated with CCMs, epileptic spasms are rare.</div></div><div><h3>Methods</h3><div>We report four patients with epileptic spasms associated with CCM. All four patients were female and developed epileptic spasms aged 5 months, 17 months, 9 years, and 10 years.</div></div><div><h3>Results</h3><div>The 17-month-old presented with raised intracranial pressure aged 4 months, with a magnetic resonance imaging demonstrating a giant left hemisphere CCM in the context of a familial cavernoma syndrome. She developed epileptic spasms aged 17 months with developmental regression and hypsarrhythmia on electroencephalogram. The 10-year-old presented with epileptic spasms following several years of focal seizures associated with a solitary CCM in the left precuneus. The five-month-old presented with infantile epileptic spasms syndrome with a modified hypsarrhythmia and a CCM in the left temporal lobe in the context of a familial cavernoma syndrome. The nine-year-old presented with focal seizures followed by a period of altered awareness associated with periodic complexes on electroencephalogram associated with a CCM in the right precuneus. All patients underwent epilepsy surgery to remove their CCM and surrounding hemosiderin-stained cortex. Epileptic spasms resolved following resective surgery in all, although one child continued to have focal seizures.</div></div><div><h3>Conclusion</h3><div>These cases demonstrate that CCM may rarely present with epileptic spasms. Factors potentially predisposing to the development of epileptic spasms, rather than focal epilepsies include large lesion volume, lesion location within the precuneus, and the presence of a familial cavernoma syndrome.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 8-12"},"PeriodicalIF":2.1,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145886371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-17DOI: 10.1016/j.pediatrneurol.2025.12.003
Gabriel M. Ronen MD, MSc
The world is facing an unprecedented crisis due to the harms associated with climate change. The universal impacts of these changes are creating as yet poorly acknowledged health crises, disproportionately affecting people with neurodisabilities. These disruptions are experienced differentially, related to sociodemographic and political factors that offer relative protection for some and ever-increasing vulnerability for others. This essay offers an overview of key contributing factors that are likely to exacerbate this climate crisis for individuals with neurodisabilities and provides recommendations regarding how to recognize and seize opportunities to confront the ever-growing threats of climate change for these people, their families, and communities. These perspectives are grounded in broader critical disability studies, strategies addressing social vulnerability, and environmental justice. Climate adaptation is extremely complex and far broader than disaster risk readiness and response. It would therefore be understandable to feel powerless in the face of human-created climate events that impel the world toward the brink. There are, however, many reasons for hope. This essay argues in favor of working to capture people's lived experiences and resourcefulness. We must recognize the creative and improvised strategies they are able to devise, and describe and promote the ensuing actions that we can take for the wellbeing of the people we service. In our professional roles in research and in direct health, social and educational services, and working in collaboration with families of individuals with neurodisabilities, we have the power to act and advocate. This is a time, as never before, for thoughtful and concerted action.
{"title":"Disability and Climate Crises: Opportunities to Move Beyond Recognizing Ethical Responsibility and to Take Action","authors":"Gabriel M. Ronen MD, MSc","doi":"10.1016/j.pediatrneurol.2025.12.003","DOIUrl":"10.1016/j.pediatrneurol.2025.12.003","url":null,"abstract":"<div><div>The world is facing an unprecedented crisis due to the harms associated with climate change. The universal impacts of these changes are creating as yet poorly acknowledged health crises, disproportionately affecting people with neurodisabilities. These disruptions are experienced differentially, related to sociodemographic and political factors that offer relative protection for some and ever-increasing vulnerability for others. This essay offers an overview of key contributing factors that are likely to exacerbate this climate crisis for individuals with neurodisabilities and provides recommendations regarding how to recognize and seize opportunities to confront the ever-growing threats of climate change for these people, their families, and communities. These perspectives are grounded in broader critical disability studies, strategies addressing social vulnerability, and environmental justice. Climate adaptation is extremely complex and far broader than disaster risk readiness and response. It would therefore be understandable to feel powerless in the face of human-created climate events that impel the world toward the brink. There are, however, many reasons for hope. This essay argues in favor of working to capture people's lived experiences and resourcefulness. We must recognize the creative and improvised strategies they are able to devise, and describe and promote the ensuing actions that we can take for the wellbeing of the people we service. In our professional roles in research and in direct health, social and educational services, and working in collaboration with families of individuals with neurodisabilities, we have the power to act and advocate. This is a time, as never before, for thoughtful and concerted action.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 13-19"},"PeriodicalIF":2.1,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145886372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-16DOI: 10.1016/j.pediatrneurol.2025.12.004
Adam Le MSc , Kelly-Ann Thibault DEC , Pouneh Amir Yazdani MD , Alexandra Chapleau HBSc , Romy J. van Voorst MSc , Enrico Bertini MD , Francesco Nicita MD, PhD , Daniela Pohl MD, PhD , Sunita Venkateswaran MD , Stephanie Keller MD , Deborah Renaud MD , Dolores Gonzalez Moron MD, PhD , Marcelo Kauffman MD, MSc, PhD , Danilo De Assis Pereira MD , Adeline Vanderver MD , Marjo S. van der Knaap MD, PhD , Maxime Morsa PhD , Geneviève Bernard MD, MSc, FRCPc
Background
RNA polymerase III–related hypomyelinating leukodystrophy (POLR3-HLD) is a rare, neurodegenerative, brain white matter disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Due to the complex and progressive nature of this disorder, parents and siblings of patients face many potential challenges and stressors. We, therefore, sought to explore parents' and siblings’ experiences to understand their specific needs and identify modifiable factors to limit familial burden and improve their quality of life.
Methods
We conducted semistructured interviews with parents and siblings of patients with POLR3-HLD. Interview questions focused on the financial, emotional, and psychosocial impacts on parents, as well as siblings’ relationship with their affected sibling and the psychosocial impacts they may have experienced. All interviews were recorded, transcribed, and analyzed using reflexive thematic analysis. Through the coding process, themes surrounding the impact on and experiences of parents and siblings were developed.
Results
Nineteen semistructured interviews with 24 parents and nine interviews with 9 siblings were completed between March and October 2023 and February and May 2024, respectively. Four themes from parent interviews included extensive caregiver burden, emotional and psychosocial challenges, the importance of parental self-health, and comfort in the leukodystrophy community. Three themes from sibling interviews included the spectrum of emotional impacts, limited knowledge about POLR3-HLD, and adapting to their sibling's needs.
Conclusions
This study provides a comprehensive understanding of the family experience, identifying the common challenges and specific needs of parents and siblings, highlighting areas of improvement in the global care offered to this vulnerable patient population.
{"title":"The Impact of RNA Polymerase III–Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study","authors":"Adam Le MSc , Kelly-Ann Thibault DEC , Pouneh Amir Yazdani MD , Alexandra Chapleau HBSc , Romy J. van Voorst MSc , Enrico Bertini MD , Francesco Nicita MD, PhD , Daniela Pohl MD, PhD , Sunita Venkateswaran MD , Stephanie Keller MD , Deborah Renaud MD , Dolores Gonzalez Moron MD, PhD , Marcelo Kauffman MD, MSc, PhD , Danilo De Assis Pereira MD , Adeline Vanderver MD , Marjo S. van der Knaap MD, PhD , Maxime Morsa PhD , Geneviève Bernard MD, MSc, FRCPc","doi":"10.1016/j.pediatrneurol.2025.12.004","DOIUrl":"10.1016/j.pediatrneurol.2025.12.004","url":null,"abstract":"<div><h3>Background</h3><div>RNA polymerase III–related hypomyelinating leukodystrophy (POLR3-HLD) is a rare, neurodegenerative, brain white matter disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Due to the complex and progressive nature of this disorder, parents and siblings of patients face many potential challenges and stressors. We, therefore, sought to explore parents' and siblings’ experiences to understand their specific needs and identify modifiable factors to limit familial burden and improve their quality of life.</div></div><div><h3>Methods</h3><div>We conducted semistructured interviews with parents and siblings of patients with POLR3-HLD. Interview questions focused on the financial, emotional, and psychosocial impacts on parents, as well as siblings’ relationship with their affected sibling and the psychosocial impacts they may have experienced. All interviews were recorded, transcribed, and analyzed using reflexive thematic analysis. Through the coding process, themes surrounding the impact on and experiences of parents and siblings were developed.</div></div><div><h3>Results</h3><div>Nineteen semistructured interviews with 24 parents and nine interviews with 9 siblings were completed between March and October 2023 and February and May 2024, respectively. Four themes from parent interviews included extensive caregiver burden, emotional and psychosocial challenges, the importance of parental self-health, and comfort in the leukodystrophy community. Three themes from sibling interviews included the spectrum of emotional impacts, limited knowledge about POLR3-HLD, and adapting to their sibling's needs.</div></div><div><h3>Conclusions</h3><div>This study provides a comprehensive understanding of the family experience, identifying the common challenges and specific needs of parents and siblings, highlighting areas of improvement in the global care offered to this vulnerable patient population.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 31-40"},"PeriodicalIF":2.1,"publicationDate":"2025-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145927906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-15DOI: 10.1016/j.pediatrneurol.2025.12.008
Karen M. Barlow MBChB, MSc, PhD, Athena Stein MPhil, PhD
{"title":"Author's Reply to: Comment on “Orthostatic Tachycardia in Children With and Without Persisting Postconcussion Symptoms Following Mild Traumatic Brain Injury: A Prospective Controlled Study”","authors":"Karen M. Barlow MBChB, MSc, PhD, Athena Stein MPhil, PhD","doi":"10.1016/j.pediatrneurol.2025.12.008","DOIUrl":"10.1016/j.pediatrneurol.2025.12.008","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 29-30"},"PeriodicalIF":2.1,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145927994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comment on “Orthostatic Tachycardia in Children With and Without Persisting Postconcussion Symptoms Following Mild Traumatic Brain Injury: A Prospective Controlled Study”","authors":"S. Dhanya Dedeepya MD , Vaishali Goel PhD , Nivedita Nikhil Desai MD","doi":"10.1016/j.pediatrneurol.2025.12.007","DOIUrl":"10.1016/j.pediatrneurol.2025.12.007","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 1-2"},"PeriodicalIF":2.1,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145847725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-15DOI: 10.1016/j.pediatrneurol.2025.12.006
Amanda Nagy MD, Robert Thompson MD, Florian Eichler MD
The field of leukodystrophies (LDs) has undergone a paradigm shift in recent decades. Several factors underlie this change: newborn screening, advanced genetic and metabolic testing, improved understanding and medical management of disease, and targeted therapies addressing underlying molecular etiologies. Recent trials as well as regulatory approvals are testimony to the transformative effects of gene therapy. However, the risks of these treatments remain incompletely understood and include malignancies/premalignancies, immune-mediated hepatic injury, and thrombotic microangiopathy, among others. The implementation of newborn screening for individual LDs allows for improved monitoring and earlier treatment but also extends the measured lifespan following diagnosis, skewing survival data compared to historical data based on symptomatic diagnosis. Lastly, population screening leads to identification of genetic variants with milder or uncertain pathogenicity. In this article, we review the shifting framework impacting life expectancy and decision-making in the LDs along with the risks and uncertainties that have arisen in the setting of recent advancements.
{"title":"The Era of Gene Therapy, Newborn Screening, and Improved Management in the Leukodystrophies: A Shifting Framework With Altered Expectations","authors":"Amanda Nagy MD, Robert Thompson MD, Florian Eichler MD","doi":"10.1016/j.pediatrneurol.2025.12.006","DOIUrl":"10.1016/j.pediatrneurol.2025.12.006","url":null,"abstract":"<div><div>The field of leukodystrophies (LDs) has undergone a paradigm shift in recent decades. Several factors underlie this change: newborn screening, advanced genetic and metabolic testing, improved understanding and medical management of disease, and targeted therapies addressing underlying molecular etiologies. Recent trials as well as regulatory approvals are testimony to the transformative effects of gene therapy. However, the risks of these treatments remain incompletely understood and include malignancies/premalignancies, immune-mediated hepatic injury, and thrombotic microangiopathy, among others. The implementation of newborn screening for individual LDs allows for improved monitoring and earlier treatment but also extends the measured lifespan following diagnosis, skewing survival data compared to historical data based on symptomatic diagnosis. Lastly, population screening leads to identification of genetic variants with milder or uncertain pathogenicity. In this article, we review the shifting framework impacting life expectancy and decision-making in the LDs along with the risks and uncertainties that have arisen in the setting of recent advancements.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 3-7"},"PeriodicalIF":2.1,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145878778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-09DOI: 10.1016/j.pediatrneurol.2025.12.002
Lingling Chen MD , Lianyi Bao MD
{"title":"Comment on ‘Yield of Whole Exome Sequencing in Children With Cryptogenic Cerebral Palsy’","authors":"Lingling Chen MD , Lianyi Bao MD","doi":"10.1016/j.pediatrneurol.2025.12.002","DOIUrl":"10.1016/j.pediatrneurol.2025.12.002","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 20-21"},"PeriodicalIF":2.1,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145912539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-12-06DOI: 10.1016/j.pediatrneurol.2025.12.001
Hyoung Won Choi MD , Laura Davids MMSc , Kartik Reddy MD , Neal Sankhla MD , Guojun Zhang MD
Biallelic pathogenic variants in the WW domain-containing oxidoreductase (WWOX) gene have been identified as causes of WWOX-related epileptic encephalopathy. We report vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM) in two children affected by WWOX-related epileptic encephalopathy. The clinical presentation included microcephaly, hypertonia, dysphagia, profound global developmental delay, and early infantile onset drug-resistant epilepsy. Initial neuroimaging was characterized by periventricular white matter volume loss and atrophy of the corpus callosum. Brain magnetic resonance imaging during vigabatrin treatment revealed new symmetrical signal changes in the globus pallidi and thalami consistent with VABAM. Further research is warranted to investigate whether children with genetic epilepsy related to the GABAergic pathway or delayed myelination are more susceptible to VABAM.
{"title":"Vigabatrin-Associated Brain Magnetic Resonance Imaging Abnormalities in Two Children With WW domain-containing oxidoreductase-Related Epileptic Encephalopathy Syndrome","authors":"Hyoung Won Choi MD , Laura Davids MMSc , Kartik Reddy MD , Neal Sankhla MD , Guojun Zhang MD","doi":"10.1016/j.pediatrneurol.2025.12.001","DOIUrl":"10.1016/j.pediatrneurol.2025.12.001","url":null,"abstract":"<div><div>Biallelic pathogenic variants in the WW domain-containing oxidoreductase (<em>WWOX</em>) gene have been identified as causes of <em>WWOX</em>-related epileptic encephalopathy. We report vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM) in two children affected by <em>WWOX</em>-related epileptic encephalopathy. The clinical presentation included microcephaly, hypertonia, dysphagia, profound global developmental delay, and early infantile onset drug-resistant epilepsy. Initial neuroimaging was characterized by periventricular white matter volume loss and atrophy of the corpus callosum. Brain magnetic resonance imaging during vigabatrin treatment revealed new symmetrical signal changes in the globus pallidi and thalami consistent with VABAM. Further research is warranted to investigate whether children with genetic epilepsy related to the GABAergic pathway or delayed myelination are more susceptible to VABAM.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 230-233"},"PeriodicalIF":2.1,"publicationDate":"2025-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145828181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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