Pediatric neurology最新文献

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Investigating the Association Between Infantile Colic and Parental Migraine 调查婴儿绞痛与父母偏头痛的关系
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-26 DOI: 10.1016/j.pediatrneurol.2025.06.020
Toshiyuki Hikita MD, PhD, Keiichirou Isozaki MD, Kaori Ogita MD, PhD, Fusako Hikita MD, PhD, Hiroyuki Hikita MD, PhD
{"title":"Investigating the Association Between Infantile Colic and Parental Migraine","authors":"Toshiyuki Hikita MD, PhD,&nbsp;Keiichirou Isozaki MD,&nbsp;Kaori Ogita MD, PhD,&nbsp;Fusako Hikita MD, PhD,&nbsp;Hiroyuki Hikita MD, PhD","doi":"10.1016/j.pediatrneurol.2025.06.020","DOIUrl":"10.1016/j.pediatrneurol.2025.06.020","url":null,"abstract":"<div><h3>Background</h3><div>To estimate the prevalence of infantile colic and determine its associated factors. Previous studies demonstrate that maternal migraine is significantly associated with increased odds of infantile colic. However, paternal migraine is not significantly associated with infantile colic.</div></div><div><h3>Methods</h3><div>We conducted a cross-sectional study of infants and parents. We surveyed all parents who brought healthy babies aged ≥3 months to our clinic. We determined the association of infantile colic with the following: child being the first- or nonfirst-born, breastfed or mixed- or formula-fed, sleeping without family or with family, and the mother and father having a history of migraine without or with aura. Odds ratios (ORs) and 95% confidence intervals were reported.</div></div><div><h3>Results</h3><div>We included 352 babies (174 girls and 178 boys). Of these, 15 babies (4.3%; 7 girls and 8 boys) were diagnosed with infantile colic based on the International Classification of Headache Disorders criteria. The prevalence of infantile colic among the children of fathers with a history of migraine without aura (12.8%) (<em>P</em> = 0.027) was significantly higher than that among the children of fathers who did not have a history of migraine (3.5%). Maternal migraine without aura was significantly associated with increased odds of infantile colic (OR: 3.23 [1.03-10.14]). Paternal migraine without aura was significantly associated with increased odds of infantile colic (OR: 4.08 [1.26-13.2]).</div></div><div><h3>Conclusions</h3><div>In this study, both maternal and paternal migraines without aura were associated with increased odds of infantile colic, suggesting a genetic influence.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 113-117"},"PeriodicalIF":3.2,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655469","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}
引用次数: 0
Dramatic Response to Neurostimulation in Children With Medically Intractable Epilepsy Related to Pseudoisodicentric Chromosome 15q Duplication: A Case Series 与假等心染色体15q重复有关的难治性癫痫患儿对神经刺激的显著反应:一个病例系列
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-23 DOI: 10.1016/j.pediatrneurol.2025.06.014
Trevor Lockard MD, Sookyong Koh MD, PhD, Drew M. Thodeson MD
{"title":"Dramatic Response to Neurostimulation in Children With Medically Intractable Epilepsy Related to Pseudoisodicentric Chromosome 15q Duplication: A Case Series","authors":"Trevor Lockard MD,&nbsp;Sookyong Koh MD, PhD,&nbsp;Drew M. Thodeson MD","doi":"10.1016/j.pediatrneurol.2025.06.014","DOIUrl":"10.1016/j.pediatrneurol.2025.06.014","url":null,"abstract":"<div><h3>Background</h3><div>15q11-q13 duplications (dup15q syndrome) in children with neurodevelopmental disorder may present with variable epilepsy phenotypes. The more common pseudoisodicentric or isodicentric chromosome 15 duplication often presents with medically refractory epilepsy. This case series illustrates 3 cases with dramatic response to neurostimulation in dup15q syndrome with medically refractory epilepsy.</div></div><div><h3>Methods</h3><div>We present 3 clinical cases analyzed by querying the medical record. Demography, medical history, and treatment efficacy were systematically reported and analyzed.</div></div><div><h3>Results</h3><div>All 3 cases showed dramatic response to neurostimulation where medication management failed. Treatment responses ranged from greater than 90% reduction in seizure frequency to seizure freedom. Moreover, all patients showed clinically significant developmental gains.</div></div><div><h3>Conclusions</h3><div>Neurostimulation produced dramatic seizure reduction in our cohort of dup15q syndrome. Early neurostimulation should be considered in medically refractory epilepsy in dup15q syndrome. Further clinical trials investigating the efficacy of neurostimulation will be helpful in this rare neurodevelopmental condition.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 129-132"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144663648","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}
引用次数: 0
How Close Are We? Neuropsychologic Assessment in New-Onset Pediatric Epilepsy 我们离成功还有多远?新发儿童癫痫的神经心理评估
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-23 DOI: 10.1016/j.pediatrneurol.2025.06.018
Nancy Nussbaum PhD, Karla Robles Lopez MD, PhD, Dave F. Clarke MD
{"title":"How Close Are We? Neuropsychologic Assessment in New-Onset Pediatric Epilepsy","authors":"Nancy Nussbaum PhD,&nbsp;Karla Robles Lopez MD, PhD,&nbsp;Dave F. Clarke MD","doi":"10.1016/j.pediatrneurol.2025.06.018","DOIUrl":"10.1016/j.pediatrneurol.2025.06.018","url":null,"abstract":"<div><h3>Background</h3><div>Approximately half of all children and adults newly diagnosed with epilepsy also show behavioral and/or cognitive difficulties upon assessment. Although neuropsychological assessment is recommended as a routine part of care at epilepsy onset, access to assessment is often restricted by many factors. To better define the extent of the problem, we surveyed neurologists and neuropsychologists in the United States and Canada to clarify how frequently youth with new-onset epilepsy are referred for and undergo neuropsychological assessment.</div></div><div><h3>Methods</h3><div>In 2022, online surveys for neurologists and neuropsychologists were disseminated via the American Epilepsy Society newsletter, professional listservs, and colleague recruitment.</div></div><div><h3>Results</h3><div>Of the 39 neurologists and 47 neuropsychologists who responded, most were in academic medical centers (neurologists = 90%, neuropsychologists = 77%) and affiliated with comprehensive epilepsy centers (neurologists = 95%, neuropsychologists = 85%). Most practice settings had less than three pediatric epilepsy neuropsychologists as reported by neurologists (77%) and neuropsychologists (64%). Neurologists and neuropsychologists largely agreed that neuropsychologic assessment of patients with new-onset pediatric epilepsy occurred in 0% to 25% of cases (neurologists = 67%, neuropsychologists = 70%). Most neurologists (69%) concurred that neuropsychological assessment contributes substantially to the care of nonsurgical epilepsy patients. However, a sizable percentage (31%) indicated that they only “sometimes” knew when to refer.</div></div><div><h3>Conclusions</h3><div>Children with new-onset epilepsy do not routinely undergo neuropsychological assessment despite it being a recommended standard of care. Some of the barriers were limited availability of neuropsychologists, insurance denials, and difficulty accessing care.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 106-109"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655456","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}
引用次数: 0
Current and Future Treatment Strategies in Developmental and/or Epileptic Encephalopathy With Spike-Wave Activation in Sleep (DEE-SWAS): A Time for Precision Medicine? 发展性和/或癫痫性脑病伴睡眠峰波激活(DEE-SWAS)的当前和未来治疗策略:精准医学的时代?
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-21 DOI: 10.1016/j.pediatrneurol.2025.06.017
Victor Manuel Perez-Navarro MD , M. Scott Perry MD , Ana Laura Fernandez-Perrone MD , Celia Romero-del-Rincon MD , Victor Soto-Insuga MD, PhD , Ariadna Sanchez-Suarez MD, PhD , Elena Gonzalez-Alguacil MD , Cristina Barcia-Aguilar MD, PhD , Juan Jose Garcia-Peñas MD , Angel Aledo-Serrano MD, PhD
{"title":"Current and Future Treatment Strategies in Developmental and/or Epileptic Encephalopathy With Spike-Wave Activation in Sleep (DEE-SWAS): A Time for Precision Medicine?","authors":"Victor Manuel Perez-Navarro MD ,&nbsp;M. Scott Perry MD ,&nbsp;Ana Laura Fernandez-Perrone MD ,&nbsp;Celia Romero-del-Rincon MD ,&nbsp;Victor Soto-Insuga MD, PhD ,&nbsp;Ariadna Sanchez-Suarez MD, PhD ,&nbsp;Elena Gonzalez-Alguacil MD ,&nbsp;Cristina Barcia-Aguilar MD, PhD ,&nbsp;Juan Jose Garcia-Peñas MD ,&nbsp;Angel Aledo-Serrano MD, PhD","doi":"10.1016/j.pediatrneurol.2025.06.017","DOIUrl":"10.1016/j.pediatrneurol.2025.06.017","url":null,"abstract":"<div><div>Developmental and/or epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS) is a childhood-onset epilepsy syndrome characterized by cognitive regression or stagnation and marked activation of epileptiform activity during sleep. DEE-SWAS refers to cases with pre-existing neurodevelopmental disorders, whereas EE-SWAS is applied when development was initially normal before the onset of epileptic encephalopathy. This syndrome comprises approximately 0.2%-1.3% of all pediatric epilepsies. D/EE-SWAS etiology includes structural anomalies and autoimmune and genetic causes, although etiology frequently remains unknown. The active epileptic process in a developing brain results in impairment of cognitive functions and behavior. For this reason, early recognition of the electroclinical syndrome and treatment initiation is extremely relevant for the long-term cognitive outcome. Typically, the available therapeutic strategies consisted of low-quality evidence and limited effectiveness, such as combinations of antiseizure medications and steroids, which were based on syndromic diagnoses rather than etiology-driven hypotheses. Over the last years, treatment has been shifting toward precision medicine approaches, with an increasing proportion of genetic diagnosis, new evidence supporting the efficacy of the surgical option in selected patients, and specific targeted treatments, such as <span>l</span>-serine in GRIN-related disorders. Additionally, this coexists with ongoing clinical trials with syndrome-specific design for D/EE-SWAS. This narrative review aims to summarize the evidence on treatments for D/EE-SWAS, provide updates on drugs currently in development, and explore precision medicine approaches for this syndrome, seeking to combine both syndrome- and etiology-driven treatment strategies.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 87-97"},"PeriodicalIF":3.2,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144631599","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}
引用次数: 0
Letter to the Editor: Utility of Cranial Ultrasound to Investigate Brain Injury in Hypoxic-Ischemic Encephalopathy 致编辑的信:颅超声在缺氧缺血性脑病脑损伤研究中的应用
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-21 DOI: 10.1016/j.pediatrneurol.2025.06.013
Saad Khan MBBS, Hiba Thasleem MD, Junaid Imran MBBS, Maryam Adnan MBBS, Fatima Sohail MBBS
{"title":"Letter to the Editor: Utility of Cranial Ultrasound to Investigate Brain Injury in Hypoxic-Ischemic Encephalopathy","authors":"Saad Khan MBBS,&nbsp;Hiba Thasleem MD,&nbsp;Junaid Imran MBBS,&nbsp;Maryam Adnan MBBS,&nbsp;Fatima Sohail MBBS","doi":"10.1016/j.pediatrneurol.2025.06.013","DOIUrl":"10.1016/j.pediatrneurol.2025.06.013","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Page 128"},"PeriodicalIF":3.2,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655473","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}
引用次数: 0
Clinical Profile, Intensive Care Needs, and Short-Term Outcome of Acute Necrotizing Encephalopathy of Childhood: A Retrospective Study From a Tertiary Care Hospital in North India 儿童急性坏死性脑病的临床概况、重症监护需求和短期预后:印度北部一家三级医院的回顾性研究
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-20 DOI: 10.1016/j.pediatrneurol.2025.06.016
Suresh Kumar Angurana DM , Deepankar Bansal DM , Karthi Nallasamy DM, Jayashree Muralidharan MD, Arushi Gahlot Saini DM, Renu Suthar DM, Jitendra Kumar Sahu DM, Naveen Sankhyan DM, Sameer Vyas DM, Arun Bansal MD, MRCPCH
{"title":"Clinical Profile, Intensive Care Needs, and Short-Term Outcome of Acute Necrotizing Encephalopathy of Childhood: A Retrospective Study From a Tertiary Care Hospital in North India","authors":"Suresh Kumar Angurana DM ,&nbsp;Deepankar Bansal DM ,&nbsp;Karthi Nallasamy DM,&nbsp;Jayashree Muralidharan MD,&nbsp;Arushi Gahlot Saini DM,&nbsp;Renu Suthar DM,&nbsp;Jitendra Kumar Sahu DM,&nbsp;Naveen Sankhyan DM,&nbsp;Sameer Vyas DM,&nbsp;Arun Bansal MD, MRCPCH","doi":"10.1016/j.pediatrneurol.2025.06.016","DOIUrl":"10.1016/j.pediatrneurol.2025.06.016","url":null,"abstract":"<div><h3>Background</h3><div>Acute necrotizing encephalopathy of childhood (ANEC) is a rare parainfectious clinicoradiological syndrome characterized by rapid neurological deterioration and poor outcomes.</div></div><div><h3>Methods</h3><div>We conducted a retrospective study over 11 years (2014-2024) in the pediatric emergency and intensive care units of a quaternary hospital in North India. Children aged one month to 12 years diagnosed with ANEC were enrolled. Data on demographics, clinical features, laboratory and neuroimaging findings, etiology, management, and outcomes were collected. The ANEC Severity Score (ANE-SS) was calculated.</div></div><div><h3>Results</h3><div>Thirty-two children were included (median age, 4 [interquartile range, 1-7] years; 53.1% male). Common clinical features included altered state of consciousness (96.9%), fever (93.7%), seizures (78.1%), and signs of raised intracranial pressure (46.9%). Organ dysfunctions included encephalopathy (100%), transaminitis (56.2%), and thrombocytopenia (46.9%). Neuroimaging revealed bilateral thalamic involvement in all cases. Etiology was identified in 37.5%, most commonly dengue virus (21.9%), followed by H1N1 (6.2%). Intensive care interventions included mechanical ventilation (56.2%) and vasoactive drugs (31.2%). Immunomodulatory therapy included methylprednisolone (78.1%), intravenous immunoglobulin (25%), and tocilizumab (15.6%). Survival rate was 78.1%. At discharge, the median Pediatric Cerebral Performance Category score was 3 (3-4), indicating moderate to severe disability. High-risk ANE-SS was significantly associated with mortality (<em>P</em> = 0.007).</div></div><div><h3>Conclusions</h3><div>ANEC remains a severe pediatric encephalopathy with high neuromorbidity. Dengue virus was the most common trigger in this cohort. Early identification and intensive care support, along with immunomodulation, are key. ANE-SS may serve as a valuable prognostic tool.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 66-71"},"PeriodicalIF":3.2,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144549779","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}
引用次数: 0
Opsoclonus in Children: Diagnosis, Etiology, and Ophthalmologic Assessment of Patients at a Tertiary Children's Hospital 儿童眼盲:某三级儿童医院患者的诊断、病因和眼科评估
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-20 DOI: 10.1016/j.pediatrneurol.2025.06.015
Melissa Yuan MD , Jacqueline Jeon-Chapman BS , Tais Estrela MD, PhD , Ryan Gise MD
{"title":"Opsoclonus in Children: Diagnosis, Etiology, and Ophthalmologic Assessment of Patients at a Tertiary Children's Hospital","authors":"Melissa Yuan MD ,&nbsp;Jacqueline Jeon-Chapman BS ,&nbsp;Tais Estrela MD, PhD ,&nbsp;Ryan Gise MD","doi":"10.1016/j.pediatrneurol.2025.06.015","DOIUrl":"10.1016/j.pediatrneurol.2025.06.015","url":null,"abstract":"<div><h3>Background</h3><div>Opsoclonus is often associated with serious neurological and paraneoplastic pathology. Pediatric ophthalmologists play an important role in its diagnosis.</div></div><div><h3>Methods</h3><div>This study was a retrospective chart review of patients seen for suspicion of opsoclonus.</div></div><div><h3>Results</h3><div>A total of 259 patients were identified for whom opsoclonus was suspected, of which 83 (32%) were found to be true opsoclonus. The ophthalmology consultation changed the course of evaluation in 44 of the 117 patients who received ophthalmologic evaluation (38%). Sixteen (9%) were found to have primary ophthalmic diagnoses. Of the 83 children with opsoclonus, 36 (43%) had paraneoplastic opsoclonus-myoclonus-ataxia syndrome (OMAS), 32 (39%) had nonparaneoplastic OMAS, one (1.2%) had optic pathway glioma, 5 (6.0%) had other neurological diseases, 2 (2.4%) had hydrocephalus, 6 (7.2%) had benign neonatal opsoclonus, and one (1.2%) had opsoclonus of unknown etiology. Most patients (78 patients; 94%) received brain magnetic resonance imaging (MRI), followed by MRI of the chest/abdomen/pelvis and urine catecholamines in 57 patients each (69%).</div></div><div><h3>Conclusions</h3><div>Extensive evaluation is usually performed to rule out underlying neoplastic pathology and includes MRI of the brain, neck, chest, and abdomen and urine catecholamine studies. Pediatric ophthalmologists can help to make critical ophthalmic diagnoses in a minority of cases. If involved early in the diagnostic course, this may spare children unnecessary testing.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 74-79"},"PeriodicalIF":3.2,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144571380","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}
引用次数: 0
Symmetrical Thalamic Lesions in Preterm Triplets: What Can We Learn From the Different Phenotypes? 三胞胎的对称性丘脑病变:我们能从不同的表型中学到什么?
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-18 DOI: 10.1016/j.pediatrneurol.2025.06.012
Cristina Mastropietro MD , Carole Gengler MD , Camille Kumps MD , Diana Ballhausen MD , Sébastien Joye MD , Juliane Schneider MD , Anita C. Truttmann MD
{"title":"Symmetrical Thalamic Lesions in Preterm Triplets: What Can We Learn From the Different Phenotypes?","authors":"Cristina Mastropietro MD ,&nbsp;Carole Gengler MD ,&nbsp;Camille Kumps MD ,&nbsp;Diana Ballhausen MD ,&nbsp;Sébastien Joye MD ,&nbsp;Juliane Schneider MD ,&nbsp;Anita C. Truttmann MD","doi":"10.1016/j.pediatrneurol.2025.06.012","DOIUrl":"10.1016/j.pediatrneurol.2025.06.012","url":null,"abstract":"<div><h3>Background</h3><div>Symmetrical thalamic lesions (STL) is a rare condition that affects term newborns who have suffered an antenatal hypoxic insult and present at birth with specific clinical features: feeding and swallowing difficulties, facial hypomimia, apnea, and frequently hypertonia. Recently STL have also been described in preterm infants.</div></div><div><h3>Case details</h3><div>We describe the first case series of STL in preterm triplets with a variable spectrum of clinical outcomes, following a clearly identified perinatal anoxic insult. Spontaneous male triplets, two monochorionic-diamniotic (T1 and T2) and one dichorionic-diamniotic (T3), were born at 31 1/7 gestational weeks by emergency Caesarean section due to maternal anaphylactic shock and presented with severe neonatal asphyxia.</div></div><div><h3>Conclusions</h3><div>The clinical presentation, neuroimaging studies, and autoptic findings of the two monochorionic twins are compatible with STL with a more severe neurological presentation of T1. The dichorionic triplet was completely unaffected. Genetic and metabolic studies excluded alternative etiologies.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 80-84"},"PeriodicalIF":3.2,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144571381","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}
引用次数: 0
Impact of CLN3 Disease on Child Quality of Life and Family Function CLN3疾病对儿童生活质量和家庭功能的影响
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-16 DOI: 10.1016/j.pediatrneurol.2025.06.008
Jennifer Vermilion MD , Erika F. Augustine MD, MS , Jonathan W. Mink MD, PhD , Michael P. McDermott PhD , Amy Vierhile DNP , Marianna Pereira-Freitas BA , Heather R. Adams PhD
{"title":"Impact of CLN3 Disease on Child Quality of Life and Family Function","authors":"Jennifer Vermilion MD ,&nbsp;Erika F. Augustine MD, MS ,&nbsp;Jonathan W. Mink MD, PhD ,&nbsp;Michael P. McDermott PhD ,&nbsp;Amy Vierhile DNP ,&nbsp;Marianna Pereira-Freitas BA ,&nbsp;Heather R. Adams PhD","doi":"10.1016/j.pediatrneurol.2025.06.008","DOIUrl":"10.1016/j.pediatrneurol.2025.06.008","url":null,"abstract":"<div><h3>Background</h3><div>CLN3 disease is a rare inherited neurodegenerative disease that typically starts in childhood. Given the progressive nature of the disease, it likely affects the health-related quality of life (HRQOL) of both the child and the family unit. In this study, we evaluated HRQOL and family function in individuals with CLN3 disease and their families.</div></div><div><h3>Methods</h3><div>Data were obtained from longitudinal observational studies on CLN3 disease at the University of Rochester Batten Center. Assessments were completed at variable intervals from 2006 to 2024. Parents completed the PedsQL, which assesses child HRQOL, and the PedsQL FIM, which assess family impact. In a subset of participants, we concurrently administered the Unified Batten Disease Rating Scale, a global assessment of CLN3 disease.</div></div><div><h3>Results</h3><div>Data from 71 participants were included in this study, of which 21 participants had concurrent Unified Batten Disease Rating Scale data. Mean (SD) PedsQL Total (48.2 (19.7)) and PedsQL FIM Total (51.2 [16.5]) scores were low. Worse child HRQOL was associated with physical impairment from more severe CLN3 disease (r<sub>s</sub>= −0.77, <em>P</em> &lt; 0.0001) and worse functional capability (r<sub>s</sub> = −0.75, <em>P</em> = 0.0001). In contrast, family impact severity was not associated with symptom severities of CLN3 disease. On longitudinal analysis, child HRQOL (PedsQL Total Score) worsened over time (<em>P</em> &lt; 0.0001), but family impact (PedsQL FIM Total Score) did not significantly change over time (<em>P</em> = 0.38).</div></div><div><h3>Conclusions</h3><div>Children with CLN3 disease and their families are at high risk of impaired HRQOL and function. This information may provide important information for clinical care and trial design in CLN3 disease.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 17-25"},"PeriodicalIF":3.2,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144524010","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}
引用次数: 0
Master of Disguise: A Case of Hemiplegic Migraine 伪装大师:偏瘫性偏头痛一例
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-06-16 DOI: 10.1016/j.pediatrneurol.2025.06.011
Monica Beshara MD, Amanda Bruhm MD, Nwanneka Okolo MD
{"title":"Master of Disguise: A Case of Hemiplegic Migraine","authors":"Monica Beshara MD,&nbsp;Amanda Bruhm MD,&nbsp;Nwanneka Okolo MD","doi":"10.1016/j.pediatrneurol.2025.06.011","DOIUrl":"10.1016/j.pediatrneurol.2025.06.011","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 85-86"},"PeriodicalIF":3.2,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144597302","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}
引用次数: 0
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