Annals of the Child Neurology Society最新文献

{"title":"Walking Capacity in Children With Ataxia Telangiectasia From the Global Ataxia Telangiectasia Family Data Platform","authors":"Biljana Horn,&nbsp;Alex Smith,&nbsp;Jennifer Thornton,&nbsp;Tara Symonds,&nbsp;Maureen Roden,&nbsp;Dirk Thye,&nbsp;William P. Whitehouse","doi":"10.1002/cns3.70039","DOIUrl":"https://doi.org/10.1002/cns3.70039","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Walking capacity declines prematurely in individuals with ataxia telangiectasia. However, granular data on walking capacity loss in ataxia telangiectasia are scarce. In this large cross-sectional cohort, we describe age-related walking capacity loss reported by participants and compare categories of a subjective walking capacity scale with the International Cooperative Ataxia Rating Scale (ICARS) walking categories.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Children with ataxia telangiectasia who presented with neurological symptoms at 5 years of age or younger and were 18 years of age or younger at the time of walking capacity reporting were included. Descriptive statistics, Spearman's rank correlations, and simple linear regression of score versus age were used to analyze the data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Mean walking capacity scores from 372 participants remained stable until age 5, followed by progressive worsening between ages 5 and 14, with persistently high scores thereafter. Categories from the subjective walking capacity scale were mapped to ICARS and its abbreviated, more functional version, Rescored modified ICARS (RmICARS) walking categories. Correlation with age was similar across all three scales (Spearman's rho: 0.711, 0.713, and 0.714). Linear regression in participants aged 5–14 years (<i>N</i> = 220) showed consistent <i>R</i>² values (~0.45) across all scales and confirmed a statistically significant relationship between age and diminished walking capacity (<i>p</i> &lt; 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Although age-related loss of ambulation was statistically significant, it accounted for just under half of the variability in walking capacity progression. Controlling for disease severity, i.e., classical or the mild variant of ataxia telangiectasia, and capturing more granular data on walking with assistance may improve the prediction of age-associated walking capacity loss.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 4","pages":"299-307"},"PeriodicalIF":0.0,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70039","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145761311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Essential Components of Child Neurology Training: Program Director Consensus Recommendations","authors":"Danny Rogers,&nbsp;Robert Thompson Stone,&nbsp;Margie Ream,&nbsp;Rachel Pearson,&nbsp;Lindsay M. Pagano,&nbsp;Miya Elizabeth Bernson-Leung,&nbsp;Elizabeth Troy,&nbsp;Scott I. Otallah,&nbsp;Eric Heath Kossoff,&nbsp;Sudha Kilaru Kessler,&nbsp;Clarimar Borrero-Mejias,&nbsp;Daniel Crowder,&nbsp;Kathryn Idol Xixis,&nbsp;Salvatore C. Rametta,&nbsp;Stephen Deputy,&nbsp;Kapil Arya,&nbsp;Aaron Nelson,&nbsp;Jenny L. Wilson,&nbsp;Amy McGregor,&nbsp;Tara Mangum,&nbsp;Jennifer M. Bain,&nbsp;Yael Shiloh-Malawsky,&nbsp;Meghan S. Candee,&nbsp;Donald L. Gilbert,&nbsp;Jan B. Wollack,&nbsp;Sharoon Qaiser,&nbsp;Rinat Jones,&nbsp;Jeffrey Strelzik,&nbsp;Emmanuelle Tiongson,&nbsp;Charu Venkatesan,&nbsp;Jessica Goldstein,&nbsp;Anna Thamann,&nbsp;Latanya D. Agurs,&nbsp;Teri L. Schreiner,&nbsp;Adam Wallace,&nbsp;Audrey Foster-Barber,&nbsp;Rachel Gottlieb-Smith","doi":"10.1002/cns3.70038","DOIUrl":"https://doi.org/10.1002/cns3.70038","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We aimed to develop a program director–derived model of essential components of child neurology residency training.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>All 79 child neurology residency programs in the United States were invited to submit a block diagram with 48 months of required rotations, the minimum clinical requirement across all approved pathways. These block diagrams were then analyzed for consensus. Program directors were anonymously surveyed regarding whether a child neurology resident could be adequately trained using the consensus curriculum if implemented in either a 4- or a 5-year training program, and whether 4 years of residency could provide adequate training.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fifty of 79 residency programs (63%) submitted a block diagram (54% in pediatrics departments, 46% in neurology departments). Greater than 75% of program directors recommended the following rotations with the average number of months recommended across all program directors in parentheses: pediatric inpatient/hospital medicine (3), pediatric non-consult intensive care (3), healthy newborn (0.5), pediatric acute/emergency care (1), genetics (1), child development (1), child neurology inpatient/consults (8), child neurology general outpatient (4), child psychiatry (1), adult neurology inpatient/consults (3), neurology specialties outpatient (4), electroencephalography (2), neuroradiology (1), and electives (7). Of the program directors (53 of 79, 67%) who completed the post-survey, 87% agreed that these requirements would be adequate, and 89% agreed that child neurologists could be adequately trained for independent practice within 4 years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The program director consensus supports modification of existing child neurology training requirements, with general agreement that 4 years of clinical training would be adequate.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 4","pages":"282-291"},"PeriodicalIF":0.0,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70038","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145761305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unilateral Task, Bilateral Response: An Acquired Movement Disorder in a Child With Chiari Malformation Type III and Syringomyelia","authors":"Aysha Arshad,&nbsp;John R. Crawford","doi":"10.1002/cns3.70033","DOIUrl":"https://doi.org/10.1002/cns3.70033","url":null,"abstract":"<p>This teenaged girl with a Chiari malformation type III that was diagnosed and surgically repaired at birth presented with an 8-year history of involuntary movements of the left arm during right-handed tasks (Video 1). These mirrored movements interfered with fine motor skills such as writing, grooming, and dressing. She denied visual changes, nausea, vomiting, or developmental regression. Her neurological examination revealed involuntary left-hand movements during right-hand activity (Video 1), decreased vibratory sensation in her arms and legs, and impaired tandem gait. Magnetic resonance imaging showed a repaired occipital encephalocele, severe untreated ventriculomegaly, and a syrinx extending from C4 to L1 (Figure 1).</p><p>Mirror movements are involuntary movements that replicate voluntary actions of the contralateral limb and are most often seen in the arms [<span>1</span>]. They represent a type of motor overflow and are considered pathologic when persistent beyond early childhood [<span>2</span>]. Proposed mechanisms include aberrant ipsilateral corticospinal projections, where motor fibers fail to decussate, as well as impaired interhemispheric inhibition, resulting in bilateral cortical activation during unimanual movement [<span>3</span>]. These abnormalities may reflect incomplete development of corticospinal and callosal pathways. Mirror movements are recognized in congenital and midline disorders such as Kallmann and Klippel–Feil syndromes [<span>1, 3, 4</span>] but are rarely reported in association with Chiari malformation type III. This patient underscores the importance of a detailed neurological examination in individuals with congenital hindbrain anomalies and highlights how structural disruption of motor systems may manifest as clinically observable motor overflow.</p><p><b>Aysha Arshad:</b> writing – original draft, writing – review and editing, visualization. <b>John R. Crawford:</b> supervision, writing – review and editing, conceptualization, visualization.</p><p>Written consent was obtained from the parent and patient before submission.</p><p>John R. Crawford, MD, MS, serves as an associate editor of <i>Annals of the Child Neurology Society</i>.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 3","pages":"251-252"},"PeriodicalIF":0.0,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70033","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145100985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fetal and Perinatal Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia","authors":"Alexandra K. Brooks,&nbsp;Vicente Quiroz,&nbsp;Luca Schierbaum,&nbsp;Julian E. Alecu,&nbsp;Katerina Bernardi,&nbsp;Nicole Battaglia,&nbsp;Amy Tam,&nbsp;Joshua Rong,&nbsp;Gregor Kasprian,&nbsp;Edward Yang,&nbsp;Darius Ebrahimi-Fakhari","doi":"10.1002/cns3.70035","DOIUrl":"https://doi.org/10.1002/cns3.70035","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>Adaptor protein complex 4–associated hereditary spastic paraplegia (AP-4-HSP) is a rare childhood-onset neurogenetic disorder. With gene replacement therapies advancing, early—potentially prenatal—diagnosis holds significant clinical promise. We aimed to characterize fetal and perinatal brain MRI features of AP-4-HSP to assess whether early imaging can prompt timely diagnosis, counseling, and interventions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this retrospective analysis, we reviewed prenatal imaging from 303 individuals with genetically confirmed AP-4-HSP enrolled in the Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (NCT04712812). Four patients (covering SPG47, SPG50, SPG52) with fetal, perinatal, or early postmortem imaging available were selected for detailed neuroradiologic evaluation. Systematic assessment documented several structural anomalies, correlated with genotype and clinical progression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fetal imaging between 22 and 38 weeks' gestation revealed ventriculomegaly, corpus callosum hypoplasia, reduced periventricular white matter, and hippocampal under-rotation across all subtypes. The SPG52 patient exhibited additional severe features, including gyral immaturity and pontine/vermis hypoplasia. Postnatal follow-up demonstrated progressive white matter volume reduction and delayed myelination.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study demonstrates that fetal and perinatal brain MRI can detect early, consistent neurodevelopmental abnormalities in AP-4-HSP, reinforcing its classification as both a neurodevelopmental and neurodegenerative disorder. Integration of prenatal neuroimaging with molecular diagnostics could enable earlier recognition, family counseling, and access to emerging gene therapies. These findings support the incorporation of fetal brain MRI into diagnostic protocols for suspected neurogenetic conditions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 3","pages":"226-231"},"PeriodicalIF":0.0,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70035","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145101013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Use of Synaptic Extracellular Myo-Inositol to Treat Developmental and Epileptic Encephalopathy","authors":"E. Naomi Vos,&nbsp;Didem Demirbas,&nbsp;Lance Rodan,&nbsp;Edward Yang,&nbsp;Sanjay P. Prabhu,&nbsp;Jie Chen,&nbsp;Xiaoping Huang,&nbsp;Wanshu Qi,&nbsp;Robin L. Haynes,&nbsp;Maria K. Lehtinen,&nbsp;Michael J. Bennett,&nbsp;Miao He,&nbsp;Phillip L. Pearl,&nbsp;M. Estela Rubio-Gozalbo,&nbsp;Annapurna Poduri,&nbsp;Gerard T. Berry","doi":"10.1002/cns3.70029","DOIUrl":"10.1002/cns3.70029","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The developmental and epileptic encephalopathies (DEE) are associated with serious and lifelong neurological conditions and risk of early mortality. Here, we describe the chronic treatment of a boy with <i>PLCB1</i>-related DEE with enteral myo-inositol supplementation as an add-on therapy to standard antiseizure medications that had been ineffective, and present novel findings in our lethal <i>Slc5a3</i> knockout mouse model to substantiate our hypothesis for a novel role of myo-inositol in prenatal life.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Myo-inositol levels were measured in plasma, urine, and cerebrospinal fluid (CSF) using stable isotope dilution and selected ion monitoring gas chromatography/mass spectrometry. Brain function and structure were monitored with magnetic resonance spectroscopy, magnetic resonance imaging, and electroencephalograms. Safety studies were performed according to Food and Drug Administration requirements.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Treatment was well tolerated without any adverse events. There was an improvement in seizure burden and stabilization of brain atrophy that was most evident in the first and second years of life. Myo-inositol administration to the pregnant <i>Slc5a3</i> carrier mice increased the myo-inositol content in the CSF of the <i>Slc5a3</i> knockout pups, which prevented their death.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>High-dose enteral myo-inositol supplementation was safely used in a patient with epileptic encephalopathy due to <i>PLCB1</i> deletion, increasing CSF levels and improving seizures and brain atrophy. The hypothesized mechanism involves restoring a fetal-like state with increased membrane potential, thereby reducing neuronal firing. Based on our experience, we encourage the exploration of high-dose myo-inositol in clinical trials involving infants with severe epileptic encephalopathy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 3","pages":"201-207"},"PeriodicalIF":0.0,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12381637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144980734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Arthur L. Prensky, 1930–2025","authors":"Christina A. Gurnett,&nbsp;Seth J. Perlman,&nbsp;Steven M. Rothman","doi":"10.1002/cns3.70034","DOIUrl":"https://doi.org/10.1002/cns3.70034","url":null,"abstract":"&lt;p&gt;Arthur Prensky, who profoundly influenced two generations of pediatric neurologists, died on June 16, 2025, after a short illness. He was 94 and Professor Emeritus of Neurology at Washington University School of Medicine at the time of his death. His career spanned the evolution of pediatric neurology from a descriptive specialty to a field anchored in modern genetics and neuroscience.&lt;/p&gt;&lt;p&gt;After early childhood trauma, including some time in foster care, he attended the highly selective Bronx High School of Science and then graduated Phi Beta Kappa from Cornell. He went on to New York University Medical School and then came to Washington University and Barnes Hospital for medical internship and a 1-year research neurophysiology fellowship. This was followed by service in the Air Force School of Aviation Medicine, ironic since he was phobic of flying. He went on to neurology residency at the Massachusetts General Hospital and an additional 3 years of laboratory research focused on leukodystrophies.&lt;/p&gt;&lt;p&gt;In 1967 he “metamorphized” (his own word) into a child neurologist and returned to Washington University to direct a new division of pediatric neurology (Figure 1). In 1974 he was named the first Allen P. and Josephine B. Green Professor of Pediatric Neurology. He had wide-ranging interests and wrote on a variety of topics, including brain lipid metabolism and disorders of myelination; amino acidopathies; epilepsy; toxicity of antiseizure medications; peripheral neuropathies; and Sydenham's chorea. He had an exemplary approach to complicated patients—he tried to formulate as accurate a differential diagnosis as possible but at the end of this process inverted his thinking and asked: Could any treatable condition be present? In this way, he pulled out all stops to make sure his patients did not miss out on potential therapies. He emphasized this approach with residents.&lt;/p&gt;&lt;p&gt;In his later years he was especially interested in pediatric headache, with two of his former trainees becoming national authorities on this topic (Andrew Hershey and Kenneth Mack). With several Washington University colleagues, he coauthored books on nutrition and the brain, caring for children with handicaps, and neurological pathophysiology. His skills were recognized by awards and honors, including the Hower Award of the Child Neurology Society, presidency of the Child Neurology Society, and the Faculty Achievement Award of the Washington University Alumni Association.&lt;/p&gt;&lt;p&gt;Arthur's formal résumé, however, fails to capture the attributes and eccentricities that gained him such notoriety among child neurologists. He was more than six feet tall and, while physically imposing, was noticeably awkward. He frequently mentioned not only that he walked late but that he only learned to ride a bicycle at 12, with the latter milestone achieved because his success became a neighborhood project. This information was often shared with parents of his motor-delayed patients to give ","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 3","pages":"132-134"},"PeriodicalIF":0.0,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70034","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145102243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chylolymphatic Mesenteric Cyst as a Possible Ketogenic Diet Complication","authors":"Siefaddeen Sharayah,&nbsp;Jennifer Griffith,&nbsp;Brad W. Warner,&nbsp;Liu Lin Thio","doi":"10.1002/cns3.70028","DOIUrl":"https://doi.org/10.1002/cns3.70028","url":null,"abstract":"<p>The ketogenic diet (KD) is a high-fat, low-carbohydrate, adequate-protein diet used for a century to treat drug-resistant epilepsy. It has relatively mild adverse effects. We highlight a patient who developed severe gastrointestinal (GI) symptoms related to a chylolymphatic mesenteric cyst (CMC) after KD initiation.</p><p>This boy was born at 39 weeks weighing 3490 g after an uneventful term gestation. Growth and development were initially appropriate. At 6 months of age he developed seizures manifested by episodes of right head-turning, rightward gaze deviation, impaired responsiveness, sometimes with chewing movements, decreased tone on the left, and/or shaking of the right extremities. These episodes had an ictal electrographic correlate with a diffuse onset but better evolution on the right on continuous video electroencephalography (EEG). Interictally, EEG showed epileptiform discharges in multiple areas on the right, resulting in a diagnosis of focal seizures with impaired consciousness. An epilepsy gene panel identified a heterozygous, paternally inherited, autosomal recessive, pathogenic variant in the biotinidase gene (<i>BTD</i>) (c.1368A&gt;C, p.Q456H). A chromosomal microarray showed a maternally inherited, 329 kb duplication within 11p14.3 (arr[GRCh37]11p14.3(21897259_22226105)x3 mat). Brain magnetic resonance imaging was normal.</p><p>Levetiracetam, zonisamide, and clobazam failed to control seizures. Biotin therapy was not trialed. Oxcarbazepine reduced seizures but was limited by diarrhea and poor sleep. At 22 months, he began a 3:1 KD but was discharged on 2:1 due to acidosis and hypoglycemia. His abdominal examination was unremarkable. His seizure burden decreased from two to four seizures per day to a few times per week within the first 3 months, during which his KD ratio was gradually increased to 2.75:1.</p><p>Three months after starting the KD, he experienced intermittent severe abdominal pain, vomiting, and diarrhea for 5 days. An abdominal computed tomography scan revealed a predominantly hypoattenuating soft tissue mass measuring 35 × 43 × 41 mm arising from the root of the mesentery, causing mass effect on small bowel loops and abutting on branches of the superior mesenteric vein and artery with mesenteric lymphadenopathy (Figure 1). He underwent exploratory laparotomy with resection of a 5 cm chylous-appearing cystic mass in the mesenteric root, along with an 11 cm segment of adjacent small bowel, followed by re-anastomosis (Figure 2). Postoperatively, symptoms resolved, and tolerance to a 2.75:1 KD improved. His last seizures occurred immediately after surgery. He was weaned off oxcarbazepine 10 months after diet initiation, and he was weaned off the diet 2 years after surgery. Now 7 years of age, he remains seizure-free with near-normal development and no cyst recurrence. He has had three normal EEGs, including one overnight on the diet and one after diet discontinuation.</p><p>We classified the abdominal mass in o","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 3","pages":"240-241"},"PeriodicalIF":0.0,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70028","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145102244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Questionnaire-Based Experimental Study of the Diagnostic Process in Suspected Shaken Baby Syndrome","authors":"N. Lynøe,&nbsp;A. Castor,&nbsp;N. Juth,&nbsp;A. Eriksson","doi":"10.1002/cns3.70031","DOIUrl":"https://doi.org/10.1002/cns3.70031","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The objective of this study was to examine the correctness of the statement that the diagnosis of shaken baby syndrome (SBS) is a “medical conclusion.”</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>If the outcome of an event is considered bad, people tend to attribute intent or responsibility. Against this backdrop, a randomized, blinded trial was applied using two case-based questionnaires of possible violent shaking of an infant, identical except for the outcome: fatal or nonfatal.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Setting</h3>\u0000 \u0000 <p>We used a report of a 2-month-old baby who had suddenly stopped breathing and was subsequently shaken by the father with the intention to resuscitate him. After admission, encephalopathy, subdural hemorrhages, and retinal hemorrhages were detected.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Participants</h3>\u0000 \u0000 <p>A total of 1269 randomly selected physicians received the questionnaire, whose distribution was randomized and blinded. The participants were not informed about the existence of two versions of the questionnaire.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The participants who responded to the fatal version considered in a significantly higher proportion (79% [95% CI: 73−85]) that shaking caused the triad findings than those who responded to the nonfatal version (68% [95% CI: 61−75]) (<i>p</i> = 0.01). When pediatricians and ophthalmologists are merged, the corresponding proportions were (91% [95% CI: 86−96]) versus (74% [95% CI: 66−82]) (<i>p</i> = 0.001). Radiologists and forensic pathologists did not distinguish significantly between fatal and nonfatal outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The study indicates that among pediatricians and ophthalmologists, the diagnostic process in suspected SBS is more value-based than evidence-based. As these two specialties dominate the SBS diagnostic procedure, the SBS diagnosis is, in this sense, not strictly a “medical conclusion.”</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 3","pages":"158-164"},"PeriodicalIF":0.0,"publicationDate":"2025-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70031","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145101710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Focal Cerebral Arteriopathy and Stroke Secondary to Tuberculous Meningitis","authors":"Mahesh Chikkannaiah,&nbsp;Sarah G. Yu,&nbsp;Laura D. Fonseca,&nbsp;Ajay Goenka,&nbsp;Gogi Kumar","doi":"10.1002/cns3.70032","DOIUrl":"https://doi.org/10.1002/cns3.70032","url":null,"abstract":"&lt;p&gt;In countries where tuberculosis (TB) is endemic, children with tuberculous meningitis (TBM) commonly present with cerebrovascular complications such as stroke [&lt;span&gt;1&lt;/span&gt;]. Herein, we present a patient from the United States with stroke associated with focal cerebral arteriopathy (FCA) secondary to TBM.&lt;/p&gt;&lt;p&gt;This 11-month-old girl presented with left hemiparesis and seizure. About 1.5 weeks before presentation, her parents noticed fatigue and decreased appetite and that she was not crawling as usual. Two days before presentation, her parents noticed decreased strength in her left arm and leg. Computed tomography of the head showed an area of hypoattenuation in the right basal ganglia and loss of gray and white matter differentiation in the right frontal cortex. While en route to our hospital, she had a seizure described as bilateral upper extremity shaking lasting 1 min, which self-resolved. On examination, she had right preferential gaze and left hemiparesis. Laboratory findings were significant for hyponatremia of 126 mEq/L. Magnetic resonance imaging of the brain (Figure 1) showed a right middle cerebral artery (MCA) distribution ischemic stroke. Magnetic resonance angiography (Figure 2) showed decreased flow in the right supraclinoid portion of the right internal carotid artery (ICA), A1 segment of the right anterior cerebral artery (ACA), and M1 segment of the right MCA and mild narrowing involving the petrous portion of the right carotid artery and carotid siphon. Her evaluation included cerebrospinal fluid (CSF) evaluation, which showed pleocytosis (235 cells/μL) with hypoglycorrhachia (11 mg/dL) and an elevated CSF protein (272 mg/dL).&lt;/p&gt;&lt;p&gt;Additional evaluation included CSF testing (bacterial culture, viral meningitis/encephalitis panel, herpes simplex virus polymerase chain reaction [PCR], and varicella virus PCR and antibodies) and respiratory panel for COVID-19, which were all negative. Chest computed tomography showed mediastinal and right hilar lymphadenopathy as well as nodular opacities in bilateral upper lobes with a miliary pattern.&lt;/p&gt;&lt;p&gt;Further family history included exposure to grandfather 1 month before his diagnosis of active TB; her grandfather had recently traveled to his native country, where TB is endemic. An interferon-gamma release assay and gastric aspirate culture were positive for &lt;i&gt;Mycobacterium tuberculosis&lt;/i&gt;. The TB skin test was also positive. A CSF acid-fast bacilli culture was negative. She was diagnosed with FCA with right MCA stroke secondary to TBM and disseminated TB. She was treated with steroids and antitubercular therapy. Her seizures were controlled with levetiracetam and phenobarbital, which were weaned off as an outpatient. Upon the most recent follow-up at 3 years of age, she had spastic left hemiplegia, and she was able to sit independently but was not walking yet.&lt;/p&gt;&lt;p&gt;TB affects 1.2 million children worldwide, with an estimated 4% of TB diagnoses progressing to TBM [&lt;span&gt;1-3&lt;/span","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 3","pages":"242-244"},"PeriodicalIF":0.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70032","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145100995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors Influencing the Duration From the Initiation of Surgical Evaluation to Final Intervention in Pediatric Epilepsy Surgery","authors":"Ruba Al-Ramadhani,&nbsp;Ann Hyslop,&nbsp;Avery R. Caraway,&nbsp;Edward J. Novotny,&nbsp;Adam P. Ostendorf,&nbsp;Krista L. Eschbach,&nbsp;Allyson L. Alexander,&nbsp;Lily C. Wong-Kisiel,&nbsp;Dewi F. Depositario-Cabacar,&nbsp;Chima O. Oluigbo,&nbsp;Cemal Karakas,&nbsp;Samir R. Karia,&nbsp;Priyamvada Tatachar,&nbsp;Jeffrey Bolton,&nbsp;Pilar D. Pichon,&nbsp;Daniel W. Shrey,&nbsp;Erin Fedak Romanowski,&nbsp;Nancy A. McNamara,&nbsp;Ernesto Gonzalez-Giraldo,&nbsp;Kurtis Auguste,&nbsp;Danilo Bernardo,&nbsp;Rani K. Singh,&nbsp;Pradeep K. Javarayee,&nbsp;Jenny J. Lin,&nbsp;Jason C. Coryell,&nbsp;Shilpa B. Reddy,&nbsp;Abhinaya Ganesh,&nbsp;Michael A. Ciliberto,&nbsp;Debopam Samanta,&nbsp;Kristen H. Arredondo,&nbsp;Ahmad Marashly,&nbsp;Zachary M. Grinspan,&nbsp;Dallas Armstrong,&nbsp;Taylor J. Abel,&nbsp;Janelle Wagner,&nbsp;Derryl J. Miller,&nbsp;Fernando N. Galan,&nbsp;Michael Scott Perry","doi":"10.1002/cns3.70027","DOIUrl":"https://doi.org/10.1002/cns3.70027","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Rationale&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Longer duration of epilepsy before surgery is a predictor of poor outcome. While referral delays of surgical candidates are well documented, factors causing delay during the presurgical evaluation remain unclear and may vary depending on institutional characteristics. By benchmarking the duration of presurgical evaluation across multiple centers and identifying patient and evaluation characteristics contributing to duration, we can ascertain best practices and address modifiable contributors to reduce delays.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;We queried the Pediatric Epilepsy Research Consortium Surgery Database, a prospective, observational multicenter study enrolling children 0–18 years at 27 US pediatric epilepsy centers, for all patients undergoing initial presurgical evaluation for drug-resistant epilepsy (DRE). We included patients with completed evaluations and data on duration from initiation of presurgical evaluation to final surgical decision. We compared patient characteristics and evaluation components between those with long duration evaluations (&gt; 75% quartile) and those with short evaluations (&lt; 25% quartile). Akaike information criteria selection identified variables associated with longer duration. From these, we developed a logistic prediction model for evaluation duration, using a random 80/20 training/testing split of the entire cohort. The model was tested among institutions with ≥ 10 patients in the cohort to assess its accuracy in predicting long durations. Linear models for each site assessed each variable's impact on duration. Variables with &lt; 10% of the patient population at each site were excluded. Beta values were compared to identify intra- and inter-institution variability and to delineate institutions with the shortest added duration for each variable.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Of 2318 patients undergoing surgical evaluation, 1655 (71%) from 23 sites had complete data. Median evaluation duration was 8 weeks (interquartile range 3–22); 453 (27%) were short-duration evaluations and 414 (25%) were long-duration evaluations. Multiple patient and evaluation characteristics were associated with duration (Table 1). Table 6 provides the average duration each variable contributes to evaluation by site, highlighting the shortest durations compared with other groups.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusions&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Duration of presurgical evaluation for DRE can be accurately modeled using multiple patient characteristics and testing strategies commo","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 3","pages":"188-200"},"PeriodicalIF":0.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70027","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145100832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}