Annals of the Child Neurology Society最新文献

{"title":"Seeing with new eyes: The essence of creativity","authors":"E. Steve Roach","doi":"10.1002/cns3.20066","DOIUrl":"https://doi.org/10.1002/cns3.20066","url":null,"abstract":"<p>The most memorable presentations at the Child Neurology Society's annual meeting are typically the award lectures. The society's awards recognize substantially different spheres of achievement, so the award lectures differ greatly in their approach and focus. The Hower Award honors an individual with a record of service to society and substantive contributions to the field. The Sachs Lecturer delves deeply into a scientific topic of current interest. The Dodge Award recognizes a promising early career researcher, and the recently added Denkla Award highlights contributions within the field of human development. Each award lecture is unique, but together, they illustrate what makes child neurology such a remarkable field.</p><p>As extraordinary as these award lectures have been, only a few have been developed into publications. Most have simply vanished, leaving nothing more than the awardee's name in an archival list of prior award winners. These presentations provided an annual snapshot of the developing field, but we did not do a very good job of preserving them. One of the goals of <i>Annals of the Child Neurology Society</i> is to publish articles derived from the society's award presentations. Some oral presentations lend themselves to print conversion better than others, of course, so the aim is to capture the essence of each lecture rather than a mirror image of the meeting presentation.</p><p>This issue of <i>Annals of the Child Neurology Society</i> contains our first award-related article, a captivating discussion of the neurology of creativity by Phillip Pearl based on his 2023 Hower Award presentation in Vancouver.<span>¹</span> Dr. Pearl knows a great deal about creativity, whether applied to scientific discovery or to his long-standing passion for music. But in the article, he also explores the thought patterns that promote creativity and delves deeply into its neurophysiologic basis. I attended Dr. Pearl's Hower Award lecture last year, but reading his article allowed me to grasp some of the finer points that escaped me during the presentation.</p><p>Pearl's splendid article also perfectly illustrates why we need to remember and preserve the society award lectures. These superb presentations remind us of the soaring heights we as a profession can achieve. They allow us to gauge our progress over time. They should be preserved and become part of our legacy.</p><p>E. Steve Roach: Conceptualization; project administration; writing–original draft; writing–review editing.</p><p>The author is the editor-in-chief of the <i>Annals of the Child Neurology Society</i>. The opinions expressed in this article are those of the author and do not reflect the official policy of the Child Neurology Society.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"4-5"},"PeriodicalIF":0.0,"publicationDate":"2024-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20066","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140188529","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 neurology of creativity: 2023 Hower lecture","authors":"Phillip L. Pearl","doi":"10.1002/cns3.20067","DOIUrl":"https://doi.org/10.1002/cns3.20067","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 <p>The neurology of creativity implies network activity; no singular cerebral area is invoked. A clinician-scientist can develop a creative research project from a single patient, combined with critical scientific alliances, careful observations, and correlations. The developing nervous system poses additional complexity, as changes are expected over time in physiologic circumstances, to which must be added compensatory responses to underlying pathology. The arts represent an especially productive area to study the neurology of creativity, especially with functional imaging, tractography, and intracranial electrophysiology. Music activates widespread bilateral areas, including temporal, orbitofrontal, insular, fusiform, and cerebellar cortex. There are different neuronal clusters for different levels of sound volume, duration, timbre, and pitch. Heschl's gyrus and the arcuate fasciculus correlate with pitch. The orbitofrontal cortex is involved in expectancy generation and appears to be active with no music and then deactivates with music, as if the cortex has an editing function. This appears to correlate with the default mode network being key during improvisation, whereas the central executive network is invoked in effortful, repetitive playing. Furthermore, plasticity is associated with music, from the pathologic development of musicogenic seizures, to protection from musician's dystonia in pianists who begin lessons before age 9 years, to benefits of increased temporal cortex in older adults taking piano lessons after six months. Creativity, reducing negativity bias, and juggling life s priorities are key to countering burnout and building resilience.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"6-14"},"PeriodicalIF":0.0,"publicationDate":"2024-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20067","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140188530","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":"Retino-dural hemorrhages in infants are markers of degree of intracranial pathology, not of violent shaking","authors":"Chris Brook","doi":"10.1002/cns3.20065","DOIUrl":"10.1002/cns3.20065","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>This study analyzed whether retino-dural hemorrhages in infants are markers of the degree of intracranial pathology, rather than evidence of violent shaking.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using data from 420 infants with acute intracranial pathologies, comparison of clinical findings is made between cases diagnosed as abusive head trauma (AHT) and four categories: cases where caregivers report no trauma; cases of witnessed or admitted AHT; cases where caregivers report accidental trauma; and witnessed accidents. The data are then controlled for degree of intracranial pathology by only comparing cases in each category that have evidence of hypoxic-ischemic swelling.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Although categories differ in clinical findings when all data are considered, they do not differ when the data are controlled for degree of intracranial pathology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The data suggest that the clinical findings widely considered to be indicative of shaking are instead markers of the degree of intracranial pathology. Previous results showing differences were driven by selection effects, whereby different categories have different fractions of serious cases. Most notably, caregiver and witnessed reports of accidental head trauma led doctors to explore intracranial pathologies across a broader spectrum of severity, including milder cases, as opposed to situations where no head trauma is reported.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 2","pages":"146-152"},"PeriodicalIF":0.0,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20065","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140246738","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":"A dramatic EEG response to fenfluramine in a patient with developmental and epileptic encephalopathy","authors":"Douglas R. Nordli III,&nbsp;Stephanie Burkhalter,&nbsp;Kaila Fives,&nbsp;Fernando Galan","doi":"10.1002/cns3.20060","DOIUrl":"https://doi.org/10.1002/cns3.20060","url":null,"abstract":"<p>We describe a remarkable electroencephalographic (EEG) response in a boy with intractable epilepsy and developmental and epileptic encephalopathy (DEE). Although there are studies on seizure control with fenfluramine in patients with Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS), no publications on other DEEs exist. The dramatic EEG improvement following fenfluramine initiation has not been described in individuals with DS or LGS. Our report highlights these novel findings with the hope of encouraging more research into fenfluramine's use in patients with difficult-to-treat epilepsies and DEEs.</p><p>This 3-year-old, right-handed boy with intractable focal epilepsy and DEE was admitted to the epilepsy monitoring unit (EMU) for EEG characterization. His seizures began at age 2 years and initially occurred more than eight times per day. The predominant seizure type was described as generalized tonic to tonic-clonic, which initally occurred on average once per week. Other seizure types included hyperkinetic generalized tonic-clonic seizures, focal motor hemifacial clonic seizures, and frequent generalized myoclonic seizures.</p><p>His EEG studies revealed a disorganized and slow background with superimposed multifocal pleomorphic epileptiform discharges. While admitted to the EMU for seizure characterization, fenfluramine was initiated. The baseline EEG (Figure 1A,B) was similar to his prior EEG recordings and revealed samples of his awake and asleep EEG background. His magnetic resonance imaging scan was normal. Genetic testing, including an epilepsy gene panel and whole-exome sequencing, were nondiagnostic.</p><p>Previous medications included levetiracetam, ethosuximide, and valproic acid. Current medications consisted of Federal Drug Administration–approved cannabidiol, lacosamide, and clobazam at therapeutic doses.</p><p>The boy's history was remarkable for developmental delay, and his examination was otherwise nonfocal. During the EMU admission he was started on fenfluramine (0.2 mg/kg/day) as an adjunct to his current regimen. A baseline EEG recording was obtained on the first day of admission after which fenfluramine (0.2 mg/kg/day divided twice daily) was started, with a robust response noted on EEG within 24–48 hours of starting fenfluramine (Figure 2A,B).</p><p>We present a pediatric patient with refractory epilepsy and DEE who demonstrated a dramatic EEG response after the initiation of fenfluramine (0.2 mg/kg/day). Fenfluramine has shown efficacy in seizure control in patients with DS and LGS, but dramatic responses trending toward EEG normalization have not been described in these patients.<span>^{1, 2}</span> Interestingly, researchers studying the use of fenfluramine in sunflower syndrome also documented an EEG response as well as clinical improvement in several patients. One patient exhibited improved slowing, while focal background slowing improved in two patients. Additionally, epileptiform discharges resolved i","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"82-85"},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20060","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140188598","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":"Early identification and treatment of Wernicke encephalopathy in an adolescent patient","authors":"Divya Gupta,&nbsp;Janetta L. Arellano","doi":"10.1002/cns3.20064","DOIUrl":"https://doi.org/10.1002/cns3.20064","url":null,"abstract":"<p>Thiamine (vitamin B1) deficiency has two forms, dry and wet beriberi. Wet beriberi involves the cardiovascular system. Dry beriberi involves the central nervous system and is associated with Wernicke encephalopathy (WE). The clinical triad of WE includes ophthalmoplegia, ataxia, and confusion. Although most common in older individuals, WE rarely occurs in the pediatric population, and many children have delayed diagnoses.<span>¹</span> The likelihood of thiamine deficiency is also increased after gastric surgery due to increased loss or malabsorption of thiamine, poor dietary intake, and/or increased metabolic requirement. We describe an adolescent with recent sleeve gastrectomy who presented with subacute encephalopathy, neuropathy, and ataxia. She was promptly treated with thiamine supplementation for suspected thiamine deficiency.</p><p>This neurotypical adolescent girl presented to the emergency department (ED) after three days of encephalopathy, visual changes, dysarthria, ataxia, and paresthesias. She reported consuming an excessive amount of alcohol the night prior to the onset of her symptoms but denied other toxic ingestions. She had no fever or neck stiffness and denied bowel and bladder symptoms.</p><p>In the ED she was confused, prompting computed tomography of the head without contrast. She was started on dextrose-containing maintenance intravenous fluids (IV) within the first six hours of arrival. Neurology was consulted and performed an evaluation at bedside the morning after her arrival and obtained further history. She had undergone a sleeve gastrectomy in a foreign country six months earlier and admitted noncompliance with vitamin supplementation and nutritional guidelines.</p><p>Her vital signs were normal, and her general examination was notable only for an abdominal surgical scar. Her neurological examination was significant for fluctuating attentiveness requiring repetitive tactile stimulation, bilateral mydriasis, bilateral cranial nerve VI palsy, dysarthria, distal symmetric sensory deficits of her extremities, areflexia, and gait ataxia.</p><p>The patient was evaluated for toxic, metabolic, infectious disease, vascular, and autoimmune disorders (Table 1) because of her initial findings. Due to the encephalopathy, visual changes, and ataxia, there was high suspicion for thiamine deficiency. Within 12 hours of presentation, she was empirically started on IV thiamine 500 mg every eight hours for two days. The dose was decreased to 250 mg, given intravenously, daily for five days. Her symptoms improved within two days of starting thiamine supplementation, and her thiamine level returned to the lower range of normal. Due to improvement in examination with thiamine, no further interventions were performed. She was discharged home on oral thiamine 100 mg daily.</p><p>Although our patient's thiamine level was in the lower limit of normal, we do not have a baseline level prior to her sleeve gastrectomy for comparison","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"86-88"},"PeriodicalIF":0.0,"publicationDate":"2024-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20064","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140188540","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":"ALDH18A1-related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike-wave activation in sleep: Expanding the clinical phenotype","authors":"Giusi Ferrara,&nbsp;Gianni Cutillo,&nbsp;Irene Peterlongo,&nbsp;Eleonora Minacapilli,&nbsp;Maria Iascone,&nbsp;Pierangelo Veggiotti,&nbsp;Isabella Fiocchi","doi":"10.1002/cns3.20056","DOIUrl":"10.1002/cns3.20056","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We present the cases of two sisters, both harboring the same <i>ALDH18A1</i> gene mutations, who presented with a complex clinical phenotype characterized by spastic paraparesis with ataxia, epileptic encephalopathy, severe psychomotor deficits, and behavioral abnormalities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Case description of two sisters with <i>ALDH18A1</i> gene mutations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The older patient, a 12-year-old girl, exhibited spastic paraparesis with ataxia, microcephaly, facial dysmorphisms, and severe intellectual disability, with an absence of verbal language. An electroencephalogram (EEG) revealed marked spike-and-wave activation during sleep (SWAS), although no clinically documented seizures were observed. The younger sister, who was 9 years old, displayed a similar clinical presentation, including spastic paraparesis with ataxia, microcephaly, dysmorphisms, however, she displayed slightly more severe intellectual deficits and polymorphic seizures. EEG revealed a SWAS pattern in this case. Magnetic resonance imaging scans in both cases showed only a thin corpus callosum. Whole exome sequencing unveiled the presence of two likely pathogenic variants in compound heterozygosity within the <i>ALDH18A1</i> gene. Specifically, these variants included the splice site variant c.88 + 1c.88+1G&gt;A of paternal origin and the variant c.1364c.1364T&gt;C (p.Leu455Ser) of maternal origin. Both sisters displayed normal blood levels of ammonia, ornithine, citrulline, arginine, and other amino acids.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>These findings were compatible with <i>ALDH18A1</i>-related HSP complicated with a clinical and EEG pattern reminiscent of DEE-SWAS. We present the first report of DEE-SWAS in <i>ALDH18A1</i>-related HSP, expanding the clinical manifestations of this complex neurodevelopmental condition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"73-78"},"PeriodicalIF":0.0,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20056","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139795775","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":"Pediatric intracranial hypertension: A review of presenting symptoms, quality of life, and secondary causes","authors":"Hersh Varma,&nbsp;Shawn C. Aylward","doi":"10.1002/cns3.20057","DOIUrl":"https://doi.org/10.1002/cns3.20057","url":null,"abstract":"<p>Our understanding of primary (idiopathic) intracranial hypertension has evolved in recent years. There have been efforts to rename the disorder as pseudotumor cerebri syndrome or primary intracranial hypertension. Some studies have suggested a higher threshold opening pressure to define intracranial hypertension. The reported annual incidence varies from 0.6 to 0.9 per 100 000 children around the world. Patients are typically divided into prepubertal and pubertal groups, with pubertal patients having the same risk factors as adults. Prepubertal patients do not share these risk factors. They are more likely to be asymptomatic, have equal gender distributions, and are less likely to be obese. Headache is the most common presenting complaint, followed by vision changes and nausea/vomiting. A newer concept of fulminant intracranial hypertension has emerged, defined as acute onset with rapid progression of visual deficits or papilledema. Quick insertion of a temporary lumbar drain as a bridge while medical management reaches effectiveness improves visual outcomes and helps avoid permanent shunt placement. Headache is typically the first symptom to resolve with treatment, and papilledema resolves in five to six months. Recurrence rates in children and adolescents range from 28.5% to 36.4%, with higher rates after puberty.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"15-26"},"PeriodicalIF":0.0,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20057","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140188535","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":"Patient selection considerations for AADC deficiency gene therapy","authors":"Agathe Roubertie,&nbsp;Irina Anselm,&nbsp;Bruria Ben-Zeev,&nbsp;Wuh-Liang Hwu,&nbsp;Ashutosh Kumar,&nbsp;Berrin Monteleone,&nbsp;Shin-ichi Muramatsu,&nbsp;Vincenzo Leuzzi,&nbsp;Salvador Ibáñez,&nbsp;Scellig Stone,&nbsp;Phillip L. Pearl","doi":"10.1002/cns3.20052","DOIUrl":"10.1002/cns3.20052","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Aromatic ʟ-amino acid decarboxylase (AADC) deficiency is a rare, severe neurological disorder caused by pathogenic variants in the dopa decarboxylase (<i>DDC</i>) gene, resulting in a combined deficiency of monoamine neurotransmitters. Clinically, patients present with a range of dysfunctions that impact motor, autonomic, and cognitive development. The constellation of symptoms of AADC deficiency varies among patients, and clinical presentation falls across a wide spectrum. However, most patients with AADC deficiency experience significant impairments when compared with children with normal development, irrespective of genotype, phenotype, or disease severity. Further, AADC deficiency is associated with increased mortality.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In response to the recent approval of a disease-modifying gene therapy for AADC deficiency, this review presents considerations for the selection of patients for treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Suggested clinical criteria to determine whether a patient is a candidate for gene therapy are: (1) genetically and biochemically confirmed AADC deficiency; (2) lack of achievement of gross motor milestones and/or persistence of clinically significant movement disorders; (3) persistent neurocognitive or systemic symptoms secondary to AADC deficiency despite standard medical therapy; and (4) informed parental/guardian decision and consent to treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"53-59"},"PeriodicalIF":0.0,"publicationDate":"2024-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20052","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139626694","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":"Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome","authors":"Chelsea B. Valery,&nbsp;Isabelle Iannotti,&nbsp;Eric H. Kossoff,&nbsp;Andrew Zabel,&nbsp;Bernard Cohen,&nbsp;Yangming Ou,&nbsp;Anna Pinto,&nbsp;Anne M. Comi","doi":"10.1002/cns3.20058","DOIUrl":"10.1002/cns3.20058","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Ninety percent of infants with Sturge–Weber syndrome (SWS) brain involvement have seizure onset before 2 years of age; early-onset seizures are associated with worse neurological outcome. Presymptomatic treatment before seizure onset may delay seizure onset and improve outcome, as has been shown in other conditions with a high risk of developing epilepsy, such as tuberous sclerosis complex. The electroencephalogram (EEG) may be a biomarker to predict seizure onset. This retrospective clinical data analysis aims to assess the impact of presymptomatic treatment in SWS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This two-center, Institutional Review Board–approved, retrospective study analyzed records from patients with SWS brain involvement. Clinical data recorded included demographics, age of seizure onset (if present), brain involvement extent (unilateral versus bilateral), port-wine birthmark (PWB) extent, family history of seizures, presymptomatic treatment if received, Neuroscore, and antiseizure medications. EEG reports prior to seizure onset were analyzed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ninety-two patients were included (48 females), and 32 received presymptomatic treatment outside of a formal protocol (five aspirin, 16 aspirin and levetiracetam; nine aspirin and oxcarbazepine, two valproic acid). Presymptomatically treated patients were more likely to be seizure-free at 2 years (15 of 32, 47% versus 7 of 60, 12%; <i>p</i> &lt; 0.001). A greater percentage of presymptomatically treated patients had bilateral brain involvement (38% treated versus 17% untreated; <i>p</i> = 0.026). Median hemiparesis Neuroscore at 2 years was better in presymptomatically treated patients. In EEG reports prior to seizure onset, the presence of slowing, epileptiform discharges, or EEG-identified seizures was associated with seizure onset by 2 years (<i>p</i> = 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Presymptomatic treatment is a promising approach to children diagnosed with SWS prior to seizure onset. Further study is needed, including prospective drug trials, long-term neuropsychological outcome, and prospective EEG analysis, to assess this approach and determine biomarkers for presymptomatic treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"60-72"},"PeriodicalIF":0.0,"publicationDate":"2024-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20058","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139534671","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":"A scoping review of cerebral reperfusion therapies in childhood and adolescence with arterial ischemic stroke","authors":"Ana Lúcia de Paula Garcia,&nbsp;Flávia Guirro Zuliani,&nbsp;Cristiane Lara Mendes-Chillof,&nbsp;Silméia Garcia Zanati Bazan,&nbsp;Carlos Clayton Macedo de Freitas,&nbsp;Gabriel Pinheiro Modolo,&nbsp;Vitor Mendes Pereira,&nbsp;Gustavo José Luvizutto,&nbsp;Rodrigo Bazan","doi":"10.1002/cns3.20055","DOIUrl":"10.1002/cns3.20055","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Management of pediatric stroke is challenging because of the paucity of data supporting the efficacy of interventions. This scoping review details the treatments available for the acute phase of stroke in pediatric patients with arterial ischemic stroke.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Summary of Review</h3>\u0000 \u0000 <p>Overall, 68 relevant articles were published between 2001 and 2023. The primary study included 48 case reports (<i>n</i> = 48). Eleven articles reported the use of intravenous thrombolysis (IVT) with alteplase, eight used intra-arterial (IA) alteplase, and 52 reported mechanical thrombectomy (MT). IVT was administered to 195 patients with a median of 5.5 h of stroke onset, and only four (2.0%) had intracranial hemorrhage after alteplase treatment. Of the 11 articles, nine used 0.9 mg/kg IVT administered as a 10% bolus, with the remaining 90% administered over one hour, and one study used 0.54 mg/kg. IA was performed in 17 patients with a median of 5.05 h of stroke onset, and three individuals (17.6%) had intracranial hemorrhage. Of the eight reports that document IA, two used 0.9 mg/kg; one each used 0.16 mg/kg, 0.1 mg/kg, 0.6 mg/kg, 100 mg/day, and 10 mg/day; and one article documented the use of urokinase 750 000 IU. MT was used in 434 and 215 individuals in a previous systematic review, with a median of 11.82 h of stroke onset, and only 2.9% had intracranial hemorrhage after the treatment. Stent retrievers were used in 33 reports (63.5%) and aspiration retrievers were mentioned in 15 articles (28.8%). Overall, the outcomes ranged from complete to moderate recovery for all modalities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>IVT and MT are safer than IA; however, despite the lack of clinical trials, all modalities seem effective in improving clinical recovery. To guide clinical practice and determine better intervention modalities, clinicians should note the key messages from this review, such as using magnetic resonance imaging in the acute phase and identifying key risk factors and presenting symptoms.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 1","pages":"40-52"},"PeriodicalIF":0.0,"publicationDate":"2023-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20055","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139149629","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}