COL18A1 encodes the α1 chain of collagen type XVIII, a nonfibrillar collagen expressed in vascular and epithelial basement membranes. Biallelic pathogenic variants in COL18A1 have been associated with Knobloch syndrome, a condition defined by ophthalmologic abnormalities, though patients often have some or all of brain malformations, epilepsy, and intellectual disability. We reviewed our research and clinical databases for patients with seizures and biallelic COL18A1 variants suspected to be pathogenic. Three patients were identified, all of whom had epilepsy and global development impairment, with two having had developmental regression and drug-resistant seizures. None of the patients had severe ophthalmologic disease. All three patients had one heterozygous likely pathogenic frameshift COL18A1 variant on one allele, with the other allele carrying a rare heterozygous missense COL18A1 variant of less certain pathogenicity. These data raise the possibility that COL18A1 disruption could produce phenotypes without severe eye abnormalities but significant neurologic dysfunction.
{"title":"Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities","authors":"Guido Guberman MD, PhD , Marcello Scala MD, PhD , Pasquale Striano MD, PhD , Federico Zara PhD , Mariasavina Severino MD , Emanuela Argilli PhD , Elliott H. Sherr MD, PhD , Kenneth A. Myers MD, PhD","doi":"10.1016/j.pediatrneurol.2025.12.022","DOIUrl":"10.1016/j.pediatrneurol.2025.12.022","url":null,"abstract":"<div><div><em>COL18A1</em> encodes the α1 chain of collagen type XVIII, a nonfibrillar collagen expressed in vascular and epithelial basement membranes. Biallelic pathogenic variants in <em>COL18A1</em> have been associated with Knobloch syndrome, a condition defined by ophthalmologic abnormalities, though patients often have some or all of brain malformations, epilepsy, and intellectual disability. We reviewed our research and clinical databases for patients with seizures and biallelic <em>COL18A1</em> variants suspected to be pathogenic. Three patients were identified, all of whom had epilepsy and global development impairment, with two having had developmental regression and drug-resistant seizures. None of the patients had severe ophthalmologic disease. All three patients had one heterozygous likely pathogenic frameshift <em>COL18A1</em> variant on one allele, with the other allele carrying a rare heterozygous missense <em>COL18A1</em> variant of less certain pathogenicity. These data raise the possibility that <em>COL18A1</em> disruption could produce phenotypes without severe eye abnormalities but significant neurologic dysfunction.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 64-67"},"PeriodicalIF":2.1,"publicationDate":"2026-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145978545","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 : 2026-01-02DOI: 10.1016/j.pediatrneurol.2025.12.027
Tianshuang Wang PhD, Shuizhen Zhou MD, Wenhui Li MD
Background
The study aimed to identify the manifestation of isolated Prolyl endopeptidase-like (PREPL) deficiency in children to aid in diagnosis and early intervention.
Methods
We performed a retrospective cohort study, including five children genetically confirmed with PREPL gene mutations. Clinical features, genotypes, and treatment responses were analyzed.
Results
The study involved four girls and one boy. The major neuromuscular features were hypotonia and feeding difficulties in the neonatal period. They all had global muscle weakness. Different from typical symptoms of CMS, only one patient had transitorily unilateral mild ptosis with no obvious fluctuating nature. Minor facial dysmorphism, growth retardation (especially underweight), and significantly delayed motor development were frequently observed. One patient also showed language and cognitive development delay. In addition, two cases had a predominant decrease in insulin-like growth factor 1 at 2.3 and 1.6 years, respectively. The median age at diagnosis was 5 (1-12) months. Eight previously nondescribed mutations were detected among the five patients, in four children with compound heterozygous mutations and one child with homozygous mutations (maternal uniparental disomy). The frameshift mutation site (p. F428fs∗18) was found in two unrelated patients. All patients have received pyridostigmine treatment at median age of 6 (3-14) months. Four cases exhibited significant improvements in motor development.
Conclusions
Isolated PREPL deficiency is a multisystem disease more than just myasthenia. Early referral to diagnosis is crucial to enable timely initiation of treatment. Pyridostigmine is an effective treatment to improve motor development in most children. Monitoring hormone levels, including insulin-like growth factor 1, can assist in early intervention.
{"title":"Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients","authors":"Tianshuang Wang PhD, Shuizhen Zhou MD, Wenhui Li MD","doi":"10.1016/j.pediatrneurol.2025.12.027","DOIUrl":"10.1016/j.pediatrneurol.2025.12.027","url":null,"abstract":"<div><h3>Background</h3><div>The study aimed to identify the manifestation of isolated Prolyl endopeptidase-like (PREPL) deficiency in children to aid in diagnosis and early intervention.</div></div><div><h3>Methods</h3><div>We performed a retrospective cohort study, including five children genetically confirmed with PREPL gene mutations. Clinical features, genotypes, and treatment responses were analyzed.</div></div><div><h3>Results</h3><div>The study involved four girls and one boy. The major neuromuscular features were hypotonia and feeding difficulties in the neonatal period. They all had global muscle weakness. Different from typical symptoms of CMS, only one patient had transitorily unilateral mild ptosis with no obvious fluctuating nature. Minor facial dysmorphism, growth retardation (especially underweight), and significantly delayed motor development were frequently observed. One patient also showed language and cognitive development delay. In addition, two cases had a predominant decrease in insulin-like growth factor 1 at 2.3 and 1.6 years, respectively. The median age at diagnosis was 5 (1-12) months. Eight previously nondescribed mutations were detected among the five patients, in four children with compound heterozygous mutations and one child with homozygous mutations (maternal uniparental disomy). The frameshift mutation site (p. F428fs∗18) was found in two unrelated patients. All patients have received pyridostigmine treatment at median age of 6 (3-14) months. Four cases exhibited significant improvements in motor development.</div></div><div><h3>Conclusions</h3><div>Isolated PREPL deficiency is a multisystem disease more than just myasthenia. Early referral to diagnosis is crucial to enable timely initiation of treatment. Pyridostigmine is an effective treatment to improve motor development in most children. Monitoring hormone levels, including insulin-like growth factor 1, can assist in early intervention.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 68-76"},"PeriodicalIF":2.1,"publicationDate":"2026-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145979140","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 : 2025-12-31DOI: 10.1016/j.pediatrneurol.2025.12.019
Michael S. Salman MBBS, BSc, MSc, PhD , Chelsea A. Ruth MD, MSc, FRCPC , Randy Walld BSc, BComm (Hons) , Marina S. Yogendran MSc , Lisa M. Lix PhD
Background
To describe educational and social outcomes in optic nerve hypoplasia/septo-optic-pituitary dysplasia (ONH/SOD) in Manitoba, Canada.
Methods
A population-based case-control study used administrative health, education, and social data from the Manitoba Population Research Data Repository. A total of 124 ONH/SOD patients diagnosed during 1990-2019 were matched to 620 unrelated population-based controls on area of residence, birth year, and sex. Multivariable logistic regression tested for differences between cases and controls on selected educational and social outcomes. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated.
Results
Cases had higher odds than controls for requiring specialized educational funding (OR: 13.12, 95% CI: 7.06-24.40). Vulnerability in any five domains of Early Development Instrument, a measure of school readiness, showed higher odds in cases (OR: 2.58, 95% CI: 1.09-6.10). In addition, cases had higher odds of contact with Child and Family Services (OR: 1.81, 95% CI: 1.22-2.69), and being taken into care at any time after birth (OR: 2.10, 95% CI: 1.32-3.35).
Conclusions
Cases with ONH/SOD had a need for greater resources and more adverse educational and social outcomes. It is recommended for social and educational service providers to work together with health care providers to ensure appropriate supports are in place for cases with ONH/SOD.
{"title":"Educational and Social Outcomes in Optic Nerve Hypoplasia and Septo-Optic-Pituitary Dysplasia","authors":"Michael S. Salman MBBS, BSc, MSc, PhD , Chelsea A. Ruth MD, MSc, FRCPC , Randy Walld BSc, BComm (Hons) , Marina S. Yogendran MSc , Lisa M. Lix PhD","doi":"10.1016/j.pediatrneurol.2025.12.019","DOIUrl":"10.1016/j.pediatrneurol.2025.12.019","url":null,"abstract":"<div><h3>Background</h3><div>To describe educational and social outcomes in optic nerve hypoplasia/septo-optic-pituitary dysplasia (ONH/SOD) in Manitoba, Canada.</div></div><div><h3>Methods</h3><div>A population-based case-control study used administrative health, education, and social data from the Manitoba Population Research Data Repository. A total of 124 ONH/SOD patients diagnosed during 1990-2019 were matched to 620 unrelated population-based controls on area of residence, birth year, and sex. Multivariable logistic regression tested for differences between cases and controls on selected educational and social outcomes. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated.</div></div><div><h3>Results</h3><div>Cases had higher odds than controls for requiring specialized educational funding (OR: 13.12, 95% CI: 7.06-24.40). Vulnerability in any five domains of Early Development Instrument, a measure of school readiness, showed higher odds in cases (OR: 2.58, 95% CI: 1.09-6.10). In addition, cases had higher odds of contact with Child and Family Services (OR: 1.81, 95% CI: 1.22-2.69), and being taken into care at any time after birth (OR: 2.10, 95% CI: 1.32-3.35).</div></div><div><h3>Conclusions</h3><div>Cases with ONH/SOD had a need for greater resources and more adverse educational and social outcomes. It is recommended for social and educational service providers to work together with health care providers to ensure appropriate supports are in place for cases with ONH/SOD.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 77-85"},"PeriodicalIF":2.1,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145978544","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}
Etiology is an important predictor for treatment outcomes of infantile epileptic spasms syndrome (IESS). In Thailand, vigabatrin (VGB) is the first-line treatment for all patients due to the unavailability of adrenocorticotropic hormone. We aimed to determine the etiology of IESS using the 2017 International League Against Epilepsy classification and evaluate the clinical response of VGB as a first-line treatment.
Methods
A retrospective cohort study was conducted on IESS-diagnosed patients between January 2013 and December 2022. Etiology was categorized per the 2017 International League Against Epilepsy classification. Clinical outcomes were assessed at days 14-42 and one year after treatment.
Results
We included 191 IESS patients (57.6% males). Etiology was identified in 75.4% (structural 61.2%: 48.1% with nontuberous sclerosis complex [non-TSC] and 13.1% with TSC; genetic, 6.3%; infectious, 6.3%; and metabolic, 1.6%). Among the 163 patients who received VGB as first-line treatment, 50 (30.7%) achieved clinical cessation of epileptic spasms at days 14-42, and 44 patients (27.0%) had sustained freedom of epileptic spasms at one year. Patients with TSC etiology were more likely to achieve cessation of epileptic spasms at day 14-42 after treatment (adjusted OR 3.548, 95% confidence interval 1.193, 10.550, P = 0.023). Definite developmental delay at spasm diagnosis decreased the odds of sustained clinical freedom from epileptic spasms at one year (adjusted OR 0.26, 95% confidence interval 0.09, 0.74, P = 0.012).
Conclusions
The etiology of IESS was identified in 75%. VGB was most effective as first-line, short-term treatment in TSC patients, and one-year treatment in children with normal development at diagnosis of IESS.
{"title":"Etiology of Infantile Epileptic Spasms Syndrome and Clinical Response With Vigabatrin as the First Treatment","authors":"Kullasate Sakpichaisakul MD , Pornnipa Sakjirapapong MD , Rachata Boonkrongsak MD , Sirorat Suwannachote MD","doi":"10.1016/j.pediatrneurol.2025.12.014","DOIUrl":"10.1016/j.pediatrneurol.2025.12.014","url":null,"abstract":"<div><h3>Background</h3><div>Etiology is an important predictor for treatment outcomes of infantile epileptic spasms syndrome (IESS). In Thailand, vigabatrin (VGB) is the first-line treatment for all patients due to the unavailability of adrenocorticotropic hormone. We aimed to determine the etiology of IESS using the 2017 International League Against Epilepsy classification and evaluate the clinical response of VGB as a first-line treatment.</div></div><div><h3>Methods</h3><div>A retrospective cohort study was conducted on IESS-diagnosed patients between January 2013 and December 2022. Etiology was categorized per the 2017 International League Against Epilepsy classification. Clinical outcomes were assessed at days 14-42 and one year after treatment.</div></div><div><h3>Results</h3><div>We included 191 IESS patients (57.6% males). Etiology was identified in 75.4% (structural 61.2%: 48.1% with nontuberous sclerosis complex [non-TSC] and 13.1% with TSC; genetic, 6.3%; infectious, 6.3%; and metabolic, 1.6%). Among the 163 patients who received VGB as first-line treatment, 50 (30.7%) achieved clinical cessation of epileptic spasms at days 14-42, and 44 patients (27.0%) had sustained freedom of epileptic spasms at one year. Patients with TSC etiology were more likely to achieve cessation of epileptic spasms at day 14-42 after treatment (adjusted OR 3.548, 95% confidence interval 1.193, 10.550, <em>P</em> = 0.023). Definite developmental delay at spasm diagnosis decreased the odds of sustained clinical freedom from epileptic spasms at one year (adjusted OR 0.26, 95% confidence interval 0.09, 0.74, <em>P</em> = 0.012).</div></div><div><h3>Conclusions</h3><div>The etiology of IESS was identified in 75%. VGB was most effective as first-line, short-term treatment in TSC patients, and one-year treatment in children with normal development at diagnosis of IESS.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 54-61"},"PeriodicalIF":2.1,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145965651","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 : 2025-12-29DOI: 10.1016/j.pediatrneurol.2025.12.011
Canan Üstün MD , Gevher Rabia Genç Perdecioğlu MD , Ömer Taylan Akkaya MD , Deniz Yüksel MD
Background
This study evaluated the efficacy and safety of noninvasive pulsed radiofrequency (NiPRF) therapy for childhood migraine and compared its outcomes with calcium channel blockers (CCBs).
Methods
A randomized controlled trial included 60 pediatric migraine patients (7-18 years). Patients were randomized into two groups: the CCB group (n = 30), receiving 5 mg flunarizine daily for 3 months, and the NiPRF group (n = 30), undergoing three weekly sessions of transcutaneous pulsed radiofrequency to the greater occipital nerve. Headache severity and frequency were recorded using a headache diary, and migraine-related disability was assessed with the Pediatric Migraine Disability Assessment score at baseline, one month, and 3 months. Two patients in the CCB group were excluded due to elevated transaminase levels and one in the NiPRF group for incomplete sessions, leaving 57 patients for analysis.
Results
Both treatments significantly reduced headache frequency and headache severity from baseline at 1 and 3 months. At one month, there was no significant difference between groups. However, at 3 months, the CCB group showed greater headache frequency reduction. Pediatric Migraine Disability Assessment scores improved in both groups, with a greater reduction in the CCB group at 3 months. Two CCB patients experienced transient liver enzyme elevation, while no significant side effects were observed in the NiPRF group.
Conclusions
NiPRF is a safe and effective treatment for childhood migraine, with comparable short-term efficacy to CCBs. Its noninvasive nature and minimal side effects make it a promising alternative. Further studies should assess long-term efficacy and optimize protocols.
{"title":"A Novel Neuromodulation Method for Childhood Migraine: Comparing Noninvasive Pulsed Radiofrequency Therapy With Calcium Channel Blockers, a Randomized Controlled Trial","authors":"Canan Üstün MD , Gevher Rabia Genç Perdecioğlu MD , Ömer Taylan Akkaya MD , Deniz Yüksel MD","doi":"10.1016/j.pediatrneurol.2025.12.011","DOIUrl":"10.1016/j.pediatrneurol.2025.12.011","url":null,"abstract":"<div><h3>Background</h3><div>This study evaluated the efficacy and safety of noninvasive pulsed radiofrequency (NiPRF) therapy for childhood migraine and compared its outcomes with calcium channel blockers (CCBs).</div></div><div><h3>Methods</h3><div>A randomized controlled trial included 60 pediatric migraine patients (7-18 years). Patients were randomized into two groups: the CCB group (n = 30), receiving 5 mg flunarizine daily for 3 months, and the NiPRF group (n = 30), undergoing three weekly sessions of transcutaneous pulsed radiofrequency to the greater occipital nerve. Headache severity and frequency were recorded using a headache diary, and migraine-related disability was assessed with the Pediatric Migraine Disability Assessment score at baseline, one month, and 3 months. Two patients in the CCB group were excluded due to elevated transaminase levels and one in the NiPRF group for incomplete sessions, leaving 57 patients for analysis.</div></div><div><h3>Results</h3><div>Both treatments significantly reduced headache frequency and headache severity from baseline at 1 and 3 months. At one month, there was no significant difference between groups. However, at 3 months, the CCB group showed greater headache frequency reduction. Pediatric Migraine Disability Assessment scores improved in both groups, with a greater reduction in the CCB group at 3 months. Two CCB patients experienced transient liver enzyme elevation, while no significant side effects were observed in the NiPRF group.</div></div><div><h3>Conclusions</h3><div>NiPRF is a safe and effective treatment for childhood migraine, with comparable short-term efficacy to CCBs. Its noninvasive nature and minimal side effects make it a promising alternative. Further studies should assess long-term efficacy and optimize protocols.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 41-47"},"PeriodicalIF":2.1,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145927905","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}
Few studies have examined the participation of children with Duchenne muscular dystrophy (DMD), and further investigation is needed to understand the factors influencing it. This study aimed to compare the participation of children with DMD to typically developing (TD) male peers, explore the relationship between participation and environmental factors, and assess the role of the environment in participation levels.
Methods
In this cross-sectional study, 30 children with DMD and 30 TD male children aged 5–13 years were included. Participation levels were measured using the Assessment of Life Habits, and environmental conditions were assessed with the European Child Environment Questionnaire.
Results
Children with DMD exhibited significantly lower total participation scores compared to TD children (6.45 ± 1.88 vs. 8.67 ± 1.22; P < 0.001). Significant correlations were found between the total participation level and environmental factors (r = -0.526, P = 0.003). Regression analysis showed that environmental factors explained 34.1% of the variance in participation, with the physical environment identified as the sole significant predictor (beta = -0.517, P = 0.041).
Conclusions
These findings highlight the need for occupational therapists to systematically evaluate participation and environmental factors to plan effective interventions.
背景：对杜氏肌营养不良（DMD）患儿的参与情况研究较少，需要进一步调查了解其影响因素。本研究旨在比较DMD儿童与正常发育（TD）男性同伴的参与情况，探讨参与与环境因素的关系，并评估环境因素在参与水平中的作用。方法：采用横断面研究方法，选取5 ~ 13岁的30例DMD儿童和30例TD男性儿童。参与水平用生活习惯评估来衡量，环境条件用欧洲儿童环境问卷来评估。结果：DMD患儿的总参与得分明显低于TD患儿（6.45±1.88比8.67±1.22;P < 0.001）。总参与水平与环境因素呈显著相关（r = -0.526, P = 0.003）。回归分析显示，环境因素解释了34.1%的参与方差，其中物理环境是唯一的显著预测因子（beta = -0.517, P = 0.041）。结论：这些发现强调了职业治疗师需要系统地评估参与和环境因素，以计划有效的干预措施。
{"title":"Environmental Determinants of Participation in Children With Duchenne Muscular Dystrophy","authors":"Duygu Mine Alataş OT, MSc , Mustafa Cemali PT, PhD (Asst. Prof.) , Çiğdem Öksüz PT, PhD (Prof.) , Aynur Ayşe Karaduman PT, PhD (Prof.)","doi":"10.1016/j.pediatrneurol.2025.12.013","DOIUrl":"10.1016/j.pediatrneurol.2025.12.013","url":null,"abstract":"<div><h3>Background</h3><div>Few studies have examined the participation of children with Duchenne muscular dystrophy (DMD), and further investigation is needed to understand the factors influencing it. This study aimed to compare the participation of children with DMD to typically developing (TD) male peers, explore the relationship between participation and environmental factors, and assess the role of the environment in participation levels.</div></div><div><h3>Methods</h3><div>In this cross-sectional study, 30 children with DMD and 30 TD male children aged 5–13 years were included. Participation levels were measured using the Assessment of Life Habits, and environmental conditions were assessed with the European Child Environment Questionnaire.</div></div><div><h3>Results</h3><div>Children with DMD exhibited significantly lower total participation scores compared to TD children (6.45 ± 1.88 vs. 8.67 ± 1.22; <em>P</em> < 0.001). Significant correlations were found between the total participation level and environmental factors (r = -0.526, <em>P</em> = 0.003). Regression analysis showed that environmental factors explained 34.1% of the variance in participation, with the physical environment identified as the sole significant predictor (beta = -0.517, <em>P</em> = 0.041).</div></div><div><h3>Conclusions</h3><div>These findings highlight the need for occupational therapists to systematically evaluate participation and environmental factors to plan effective interventions.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"176 ","pages":"Pages 48-53"},"PeriodicalIF":2.1,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145952942","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 : 2025-12-19DOI: 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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号