Journal of Child Neurology最新文献

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Understanding Seizures in Malan Syndrome Through Caregiver Reports: A Cross-Sectional Study. 通过看护人报告了解马兰综合征的癫痫发作:一项横断面研究。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2025-09-22 DOI: 10.1177/08830738251377149
Sweta Dubey, Senyene E Hunter, Christal G Delagrammatikas, Gloria Pinero, Vimala Elumalai, Muhammad Shahzad Zafar
{"title":"Understanding Seizures in Malan Syndrome Through Caregiver Reports: A Cross-Sectional Study.","authors":"Sweta Dubey, Senyene E Hunter, Christal G Delagrammatikas, Gloria Pinero, Vimala Elumalai, Muhammad Shahzad Zafar","doi":"10.1177/08830738251377149","DOIUrl":"https://doi.org/10.1177/08830738251377149","url":null,"abstract":"<p><p>Malan syndrome is an ultrarare overgrowth-intellectual disability syndrome caused by <i>NFIX</i> variants, characterized by intellectual disability, postnatal overgrowth, and dysmorphic features. Seizures in Malan syndrome remain poorly understood. We surveyed caregivers of 53 individuals with Malan syndrome. Overall, 55% had seizures or electroencephalographic (EEG) abnormalities. Seizures occurred in 47%, with 28% experiencing drug-resistant epilepsy. The median age of seizure onset was 3 years. Epilepsy classifications included focal (40%) and unknown-onset tonic-clonic seizures (48%). Generalized tonic-clonic (8%), myoclonic (8%), and epileptic spasms (4%) were also reported. Of those with seizures, 44% had status epilepticus. Valproic acid was the most used antiseizure medication, with variable efficacy. This study represents the largest cohort to date, providing detailed descriptions of seizures in Malan syndrome, and lays a foundation for future research phenotyping epilepsy in affected individuals. Clinicians should maintain a high suspicion of seizures and monitor closely for status epilepticus in individuals with Malan syndrome.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251377149"},"PeriodicalIF":1.6,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145124841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gait Analysis in Rett Syndrome: Integrating Linear and Nonlinear Techniques. Rett综合征的步态分析:整合线性和非线性技术。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2025-09-19 DOI: 10.1177/08830738251371586
Dacia Martinez Diaz, Brock Futrell, Bernhard Suter, Charles S Layne
{"title":"Gait Analysis in Rett Syndrome: Integrating Linear and Nonlinear Techniques.","authors":"Dacia Martinez Diaz, Brock Futrell, Bernhard Suter, Charles S Layne","doi":"10.1177/08830738251371586","DOIUrl":"https://doi.org/10.1177/08830738251371586","url":null,"abstract":"<p><p>Rett syndrome is a rare neurodevelopmental disorder that significantly impairs bipedal postural control and walking ability. This study quantifies the gait characteristics of 22 females with Rett syndrome (divided into 3 age groups) and compares them with age-matched neurotypical females. Bilateral sagittal plane joint angles of the hip, knee, and ankle were analyzed. Measures included joint range of motion, stride time, peak angular velocity, angle-angle diagrams, phase portrait areas, and asymmetries. Results revealed reduced joint range of motion and angular velocity in individuals with Rett syndrome, as well as greater asymmetries in gait parameters reflecting disruptions in bilateral coordination. Phase portraits and angle-angle diagrams indicated preserved coordination in proximal joints but greater variability at the ankle. Ankle movement in individuals with Rett syndrome aged 9-14 years showed a closer resemblance to Controls. These findings identify underlying lower limb motion patterns that contribute to gait deficits in Rett syndrome, guiding future targeted interventions to improve their mobility.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251371586"},"PeriodicalIF":1.6,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease. 小儿CLN3疾病米卢司他治疗后的视力恢复和神经系统稳定。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2025-09-18 DOI: 10.1177/08830738251374538
Alice E Dutton, Ineka T Whiteman, Michael M Jones, Katie E Geering, Soheil Afshar, Alexandra M Johnson, John R Grigg
{"title":"Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease.","authors":"Alice E Dutton, Ineka T Whiteman, Michael M Jones, Katie E Geering, Soheil Afshar, Alexandra M Johnson, John R Grigg","doi":"10.1177/08830738251374538","DOIUrl":"https://doi.org/10.1177/08830738251374538","url":null,"abstract":"<p><p>Neuronal ceroid lipofuscinosis type 3 (CLN3) disease is a rare, life-limiting pediatric neurodegenerative disorder with no approved disease-modifying therapy. We conducted a prospective case report from October 2023 to April 2025 involving two female siblings with genetically confirmed CLN3 disease (homozygous for the common 1 kb deletion). Both patients were treated with oral, weight-based miglustat for 18 months. Miglustat was supplied as off-label use in the absence of a therapeutic alternative for this severe neurodegenerative disorder. Clinical outcomes were assessed using comprehensive ophthalmologic evaluation, the Unified Batten Disease Rating Scale (UBDRS), and the Vineland Adaptive Behavior Scales, Third Edition (Vineland-3). At the time of report, patients were aged 13 and 10 years. Both had been diagnosed at age 7 years and commenced miglustat at ages 11 and 9 years, respectively. Over the treatment period, both patients demonstrated improvement in visual acuity and clinical stabilization on the Unified Batten Disease Rating Scale. One patient showed measurable improvement in adaptive functioning as assessed by Vineland-3. No significant adverse effects were reported. These preliminary findings suggest potential short-term clinical benefit of miglustat in pediatric patients with CLN3 disease, particularly when initiated early in the disease course. Further studies involving larger cohorts and longer follow-up are warranted to evaluate the safety and long-term efficacy of miglustat in this population.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251374538"},"PeriodicalIF":1.6,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CLN2 Disease: Current Understandings, Challenges, and Future Directions. CLN2疾病:当前的认识、挑战和未来的方向。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2025-09-18 DOI: 10.1177/08830738251374539
Maria Shock, Elisa Nigro, Elizabeth J Donner, Robyn Whitney
{"title":"CLN2 Disease: Current Understandings, Challenges, and Future Directions.","authors":"Maria Shock, Elisa Nigro, Elizabeth J Donner, Robyn Whitney","doi":"10.1177/08830738251374539","DOIUrl":"https://doi.org/10.1177/08830738251374539","url":null,"abstract":"<p><p>Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative condition that rapidly progresses with language regression, loss of ambulation, blindness, intractable seizures, and premature death in childhood. Enzyme replacement therapy has transformed the clinical trajectory of CLN2 disease, and early genetic testing is crucial because enzyme replacement therapy cannot reverse clinical progression. Lack of clinician awareness of early clinical symptomatology, initially normal language development, and history of provoked or treatment-responsive seizures may contribute to diagnostic and treatments delays. There remain challenges in equitable enzyme replacement therapy access globally and implementation of dual treatment to address retinopathy. There is a need to better understand the phenotype of CLN2 disease in the era of enzyme replacement therapy, including children who receive treatment presymptomatically. Gene therapy is a promising curative treatment, notwithstanding the mixed clinical evidence on efficacy and challenges achieving widespread brain transgene expression. This review explores our current understanding of early clinical presentation of CLN2 disease, epilepsy phenotype, role of genetic testing, novel biomarkers, and precision treatments including enzyme replacement therapy.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251374539"},"PeriodicalIF":1.6,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Moral Distress in Pediatric Physician Trainees Caring for Patients With Neurologic Conditions. 儿科医师培训生照顾神经系统疾病患者的道德困扰。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2025-09-18 DOI: 10.1177/08830738251376745
Laura DiDomenico, Paul S Horn, DonnaMaria E Cortezzo, Marissa Vawter-Lee, Charu Venkatesan
{"title":"Moral Distress in Pediatric Physician Trainees Caring for Patients With Neurologic Conditions.","authors":"Laura DiDomenico, Paul S Horn, DonnaMaria E Cortezzo, Marissa Vawter-Lee, Charu Venkatesan","doi":"10.1177/08830738251376745","DOIUrl":"https://doi.org/10.1177/08830738251376745","url":null,"abstract":"<p><p>ObjectiveMoral distress is psychological pain evoked by the inability to act according to ones values. Characterization of moral distress among pediatric trainees caring for patients with neurologic conditions is lacking. This study examines moral distress accordingly.MethodsCross-sectional survey at a pediatric quaternary care hospital. Trainees responded in the context of caring for children with neurologic conditions. Survey included the Measure of Moral Distress for Healthcare Professionals (MMD-HP), featuring items corresponding with moral distress causes: system, patient, team. Two items adapted from the Maslach Burnout Inventory, questions evaluating moral distress mitigation, and a free text section were featured. Responses were analyzed for all respondents and subspecialty groups.ResultsParticipant response rate was 33% (80 of 244). Most were familiar with moral distress but recommended additional education. All experienced moral distress and associated burnout in the specified context. Patient-related situations were most distressing. No significant difference in overall MMD-HP scores was noted between subspecialty groups. Debriefing with other providers was projected to best address moral distress.ConclusionsPediatric trainees caring for patients with neurologic conditions are at risk of moral distress and associated burnout. Patient-related situations most contributed to moral distress, specifically the pursuit of life-sustaining care perceived to be futile.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251376745"},"PeriodicalIF":1.6,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of Immune Risk Factors for Developing Complications After Bacterial Meningitis in Children. 儿童细菌性脑膜炎并发并发症的免疫危险因素评价
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2025-09-16 DOI: 10.1177/08830738251374541
Anna Kadziszewska, Ewelina Gowin
{"title":"Evaluation of Immune Risk Factors for Developing Complications After Bacterial Meningitis in Children.","authors":"Anna Kadziszewska, Ewelina Gowin","doi":"10.1177/08830738251374541","DOIUrl":"https://doi.org/10.1177/08830738251374541","url":null,"abstract":"<p><p>This study investigates selected components of the immune system and the prevalence of single-nucleotide polymorphisms in genes involved in the immune response in children following bacterial meningitis, with particular focus on their potential role in the development of postinfectious complications. The study included 47 children hospitalized with pneumococcal or meningococcal meningitis between 2010 and 2020. Analyses involved leukocyte profiles, immunoglobulin levels (IgA, IgM, IgG), complement activity (C3, C4, CH50), and 11 single-nucleotide polymorphisms across 7 genes. Data on complications were collected from medical records, follow-ups, and patient surveys. Complications occurred in 59.6% of cases, with cognitive impairment, focal neurologic deficits, subdural effusion, and hearing disorders being most common. CH50 defects showed a statistical trend toward an increased risk of neurologic complications (<i>P</i> = .064), and the TIRAP rs8177374 single-nucleotide polymorphism demonstrated a borderline trend toward significance (<i>P</i> = .054). Bacterial meningitis may lead to long-term complications. Complement system disturbances and genetic predispositions are important prognostic factors influencing outcomes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251374541"},"PeriodicalIF":1.6,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145075325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluating Efficacy Outcomes in Pediatric Multiple Sclerosis Patients While Using Avonex or Plegridy via USNPMSC Registry. 通过USNPMSC Registry评估儿童多发性硬化症患者使用Avonex或Plegridy的疗效结局。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2025-09-16 DOI: 10.1177/08830738251367460
Melissa A Wright, Bradley J Barney, Skyler Peterson, Michael Waltz, John Rose, Mary Rensel, Aaron Abrams, Emmanuelle Waubant, Yolanda Wheeler, Moses Rodriguez, Jan-Mendelt Tillema, Lauren Krupp, Mark Gorman, Leslie Benson, Timothy Lotze, Nikita Shukla, Soe Mar, Tanuja Chitnis, Teri Schreiner, Megan Vignos, T Charles Casper
{"title":"Evaluating Efficacy Outcomes in Pediatric Multiple Sclerosis Patients While Using Avonex or Plegridy via USNPMSC Registry.","authors":"Melissa A Wright, Bradley J Barney, Skyler Peterson, Michael Waltz, John Rose, Mary Rensel, Aaron Abrams, Emmanuelle Waubant, Yolanda Wheeler, Moses Rodriguez, Jan-Mendelt Tillema, Lauren Krupp, Mark Gorman, Leslie Benson, Timothy Lotze, Nikita Shukla, Soe Mar, Tanuja Chitnis, Teri Schreiner, Megan Vignos, T Charles Casper","doi":"10.1177/08830738251367460","DOIUrl":"https://doi.org/10.1177/08830738251367460","url":null,"abstract":"<p><p>This study evaluated the efficacy of the multiple sclerosis disease-modifying therapies, intramuscular interferon beta-1a (Avonex) and subcutaneous peginterferon beta-1a (Plegridy), using data from the United States Network of Pediatric Multiple Sclerosis Centers. In this retrospective analysis, 154 patients with multiple sclerosis were included who were treated with Avonex (n = 130), Plegridy (n = 23), or both treatments (n = 1) before the age of 18 years. After 3 months' sustained use acclimation (\"wash-in\"), the probability of being relapse-free during the first year was 68.3% for Avonex-treated patients and 69.9% for Plegridy-treated patients; annualized relapse rates were 0.50 and 0.59, respectively. Both disease-modifying therapies demonstrated efficacy similar to that reported in adult populations. Despite the lack of formal approval for pediatric multiple sclerosis, these outcomes indicate that patients may benefit from treatment with Avonex or Plegridy. Understanding efficacy of specific disease-modifying therapies in pediatric multiple sclerosis is essential to making informed treatment decisions.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251367460"},"PeriodicalIF":1.6,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145075290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Use of Anti-CGRP Medications for Management of Intractable Chronic Daily Headaches in the Pediatric Population: Case Series and Literature Review. 使用抗cgrp药物治疗小儿顽固性慢性每日头痛:病例系列和文献综述。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2025-09-15 DOI: 10.1177/08830738251374537
Asra Akbar, Girish Deshpande, Sandeep Tripathi
{"title":"The Use of Anti-CGRP Medications for Management of Intractable Chronic Daily Headaches in the Pediatric Population: Case Series and Literature Review.","authors":"Asra Akbar, Girish Deshpande, Sandeep Tripathi","doi":"10.1177/08830738251374537","DOIUrl":"https://doi.org/10.1177/08830738251374537","url":null,"abstract":"<p><p>BackgroundChronic daily headaches are the cause of significant morbidity in adolescents. Many patients with migraine show minimal response to daily preventive medications and often have significant side effects. Calcitonin gene-related peptide (CGRP) inhibitors have been found to be effective for managing migraines in the adult population. However, limited data are available for their use in pediatrics.MethodsSingle-center retrospective case series of all consecutive patients (<18 years) treated at the outpatient pediatric neurology clinic at Children's Hospital of Illinois/Illinois Neurological Institute between 2020 and 2023. Data extracted from the electronic medical record included demographics, comorbidities, headache characteristics, including the Headache Impact Test-6 (HIT-6) score, and Pediatric Migraine Disability Assessment (PedMIDAS) score. The study was approved by the Institutional Review Board, and informed consent from all patients was obtained.ResultsDetails of 8 patients treated with CGRP inhibitors are provided. Median age of the cohort was 17.2 years, and 62.5% were female. The median number of 6.5 medications were tried before CGRP inhibitors. Median Headache Impact Test-6 and Pediatric Migraine Disability Assessment scores were 76 and 40, respectively, and they decreased to a median of 36 and 5, by the last reported visit of each patient. All patients responded to the therapy, with 7 of 8 responding within 3 months (50% decrease of MIDAS score). One patient was co-treated with Botox injections and also with as-needed use of CGRP receptor blockers. No significant adverse events were reported by any patient.ConclusionOnce a month, anti-CGRP injections are effective and well tolerated in the pediatric population. CGRP inhibitor therapy may be a reasonable therapeutic option for managing chronic daily headaches in patients who have failed other routine prophylactic medication management.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251374537"},"PeriodicalIF":1.6,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Case Report on the Use of Doxazosin to Improve Outcomes in a Patient With a KCNT1 Genetic Variation. 使用Doxazosin改善KCNT1遗传变异患者预后的病例报告
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2025-09-08 DOI: 10.1177/08830738251371331
Abigail Petrecca, Evelynne Waugh, James Herbst, Anup D Patel
{"title":"A Case Report on the Use of Doxazosin to Improve Outcomes in a Patient With a KCNT1 Genetic Variation.","authors":"Abigail Petrecca, Evelynne Waugh, James Herbst, Anup D Patel","doi":"10.1177/08830738251371331","DOIUrl":"https://doi.org/10.1177/08830738251371331","url":null,"abstract":"<p><p>This case report describes the use of doxazosin (Cardura) as a treatment for a patient with an autosomal dominant <i>KCNT1</i>, single-nucleotide R398Q pathogenic variant, which has not previously been described in the literature. The patient has <i>KCNT1</i> gain-of-function pathogenic genetic variant. Because of the patient's continued seizure burden with the use of traditional antiseizure medications and failed invasive antiseizure interventions, an oocyte cell line with the specific genetic variant was created to test efficacy of various medications. Doxazosin was found to have a high degree of inhibitory activity in both wild-type and mutant cell lines and, as a result, was trialed with this patient. The patient experienced a decrease in unplanned hospitalizations in addition to a dramatic decrease in seizure burden with the initiation of doxazosin with minimal side effects.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251371331"},"PeriodicalIF":1.6,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145015506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An Occurrence of Mass Psychogenic Illness: LeRoy, New York. 群体性心因性疾病的发生:LeRoy,纽约。
IF 1.6 4区 医学
Journal of Child Neurology Pub Date : 2025-09-08 DOI: 10.1177/08830738251369759
Jennifer McVige, Lanie Masset, Laszlo Mechtler, Megan Rooney, Patrick Eugeni, Dilpreet Kaur-Spencer, Alice Trzcinski, Zhongzheng Niu
{"title":"An Occurrence of Mass Psychogenic Illness: LeRoy, New York.","authors":"Jennifer McVige, Lanie Masset, Laszlo Mechtler, Megan Rooney, Patrick Eugeni, Dilpreet Kaur-Spencer, Alice Trzcinski, Zhongzheng Niu","doi":"10.1177/08830738251369759","DOIUrl":"https://doi.org/10.1177/08830738251369759","url":null,"abstract":"<p><p>Mass psychogenic illness (MPI), also known as mass sociogenic illness, is a functional neurologic symptom disorder affecting multiple people simultaneously. This study presents a pediatric MPI outbreak involving abrupt-onset tics in LeRoy, NY, during 2011-2012. The analysis provides diagnostic evidence and highlights challenges with diagnosing MPI. Patients presented with tics evolving into syncope, psychogenic nonepileptic seizure, and migraine. Laboratory test types (n = 64) were evaluated, with n = 32 of 64 yielding abnormal results. Deviations were reported in 5% intervals for quantitative tests, with n = 13 of 32 test types <10% and n = 14 of 32 test types >10% from normal. The remaining n = 5 of 32 test types were qualitative. Brain magnetic resonance imaging (MRI) results found n = 7 of 13 normal, n = 4 of 13 normal variants, and n = 2 of 13 abnormal. Electroencephalography (EEG), electrocardiography, head computed tomography (CT), and echocardiogram results were normal. All patients recovered from MPI. Clinical presentation supported the MPI diagnosis; laboratory/ancillary testing did not support an alternative. Abnormal results were either consistent with patient history, incidental, or treated without symptom resolution. Outside environmental testing did not yield an alternative.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251369759"},"PeriodicalIF":1.6,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145015472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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