Pediatric neurology最新文献

{"title":"Processes and Predictors in the Transition From Pediatric to Adult Epilepsy Care: A Retrospective Study at a Single Institution","authors":"Jasmine Sondhi MD ,&nbsp;Esraa Ali MBBS ,&nbsp;Krishna Trivedi MD ,&nbsp;Stephanie DeCarvalho DO ,&nbsp;Traci M. Kazmerski MD, MS ,&nbsp;Laura Kirkpatrick MD","doi":"10.1016/j.pediatrneurol.2025.07.015","DOIUrl":"10.1016/j.pediatrneurol.2025.07.015","url":null,"abstract":"<div><h3>Objective</h3><div>To characterize transition of care processes for patients with epilepsy in a single institution without a formal epilepsy transition of care program.</div></div><div><h3>Methods</h3><div>We reviewed medical records for individuals with epilepsy who were at least 15 years old seen outpatient by pediatric neurology in 2019. We followed their records through 2022. We evaluated whether they had documentation of transition discussion, if they transferred to adult care, and/or if they were retained in adult care. Excluding individuals who died or were discharged, we performed logistic regression for transition discussion, transfer, and retention, adjusting for sex, age, race/ethnicity, distance from institution, zip code median household income, rurality, drug-resistant epilepsy (DRE), intellectual disability (ID), and technology dependence.</div></div><div><h3>Results</h3><div>We evaluated documentation for 274 individuals (50% female, median age 18 years, 84% white, 1.5% Hispanic, 24% DRE, 25% ID). Excluding 14 who died and 28 who were discharged, 57 of 226 (25%) had a documented transition discussion and 115 (51%) transitioned (median age 20 years). Of 95 eligible individuals, 77 (81%) were retained in adult care. Predictors of transition discussion included older age (aOR: 1.44, 95% confidence interval: 1.22, 1.70) and absence of ID (aOR: 4.17 [1.51, 11.11]). Predictors of transfer included older age (aOR: 1.19 [1.02, 1.39]), documented transition discussion (aOR: 3.25 [1.48, 7.13]), and DRE (aOR: 2.41 [1.10, 5.28]). We identified no significant predictors of retention.</div></div><div><h3>Conclusions</h3><div>Discussion of transition may promote transfer to adult care among people with epilepsy. Formal transition programs may be needed to optimize care processes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 80-85"},"PeriodicalIF":2.1,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144830711","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}

{"title":"Clinical, Radiologic, and Optical Coherence Tomographic Features of Pediatric Acute Disseminated Encephalomyelitis: Comparison of Myelin Oligodendrocyte Glycoprotein Antibody–Positive and –Negative Cases","authors":"Linda Nguyen MD, PhD ,&nbsp;Sumit Singh MD ,&nbsp;Cynthia X. Wang MD ,&nbsp;Benjamin M. Greenberg MD, MHS","doi":"10.1016/j.pediatrneurol.2025.07.013","DOIUrl":"10.1016/j.pediatrneurol.2025.07.013","url":null,"abstract":"<div><h3>Background</h3><div>Acute disseminated encephalomyelitis (ADEM) typically presents as a monophasic demyelinating disorder associated with multifocal neurological symptoms and encephalopathy in children. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) is detected in a subset of patients and may be linked to recurrence risk. This study evaluated the clinical, radiologic, and optic coherence tomographic (OCT) features of children with ADEM based on MOG-IgG serostatus.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed pediatric ADEM cases with MOG-IgG testing at initial presentation between 2017 and 2024.</div></div><div><h3>Results</h3><div>Of 38 children with ADEM, 27 (71.1%) were MOG-IgG positive at initial presentation. Reported decreased vision and optic nerve involvement on imaging were more frequent in MOG-IgG-positive children (18.5% vs 0.0% and 36.4% vs 0.0%, respectively), although these differences did not reach statistical significance. Hospitalization duration and need for intensive care unit stay were similar between groups. On follow-up imaging, complete lesion resolution was significantly more common in MOG-IgG-negative children (75.5% vs 22.2%, <em>P</em> = 0.014). Among 30 children with geater than or equal to six months of follow-up, good recovery (modified Rankin scale score &lt;2) occurred in 65.5% and relapse in 23.1%, with no significant differences between groups. OCT revealed a trend toward increased frequency of retinal nerve fiber layer thinning in MOG-IgG-positive children (50.0% vs 0.0%).</div></div><div><h3>Conclusions</h3><div>In this single-center study, MOG-IgG-positive ADEM is associated with greater optic nerve involvement, whereas MOG-IgG-negative ADEM showed more frequent complete lesion resolution. These findings support incorporating MOG-IgG testing, dedicated orbital imaging, and OCT into the diagnostic and follow-up evaluation of pediatric ADEM.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 86-91"},"PeriodicalIF":2.1,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144828599","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}

{"title":"Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity","authors":"Costanza Varesio MD, PhD ,&nbsp;Davide Politano MD ,&nbsp;Laura Adang MD, PhD ,&nbsp;Elena Ballante MD, PhD ,&nbsp;Roberta Battini MD, PhD ,&nbsp;Enrico Bertini MD ,&nbsp;Renato Borgatti MD ,&nbsp;Valentina De Giorgis MD, PhD ,&nbsp;Annamaria Del Boca MD ,&nbsp;Francesca Dragoni PhD ,&nbsp;Elisa Fazzi MD, PhD ,&nbsp;Jessica Galli MD, PhD ,&nbsp;Jessica Garau PhD ,&nbsp;Francesco Gavazzi MD, PhD ,&nbsp;Alice Gardani MSc ,&nbsp;Roberta La Piana MD, PhD ,&nbsp;Isabella Moroni MD ,&nbsp;Francesco Nicita MD, PhD ,&nbsp;Anna Pichiecchio MD ,&nbsp;Antonella Pini MD, PhD ,&nbsp;Simona Orcesi MD","doi":"10.1016/j.pediatrneurol.2025.07.011","DOIUrl":"10.1016/j.pediatrneurol.2025.07.011","url":null,"abstract":"<div><h3>Background</h3><div>Aicardi-Goutières syndrome (AGS) is a rare monogenic leukodystrophy belonging to type I interferonopathies caused by alterations in one of nine genes. Among them, homozygous <em>RNASEH2B</em>:c.529G&gt;A(p.Ala177Thr) is the most common variant worldwide and associated to AGS2. This variant typically leads to severe phenotypes, but individuals with later onset or milder clinical manifestations have been described, with recent finding of asymptomatic homozygous individuals. However, the cause for this intragenotypic clinical variability is unclear, as well as developmental trajectories and early prognostic factors. Our study objective is the description of phenotypic variability in patients with AGS2 and the identification of early clinical markers of prognosis.</div></div><div><h3>Methods</h3><div>A multicenter international retrospective natural history study was carried out by recruiting patients with AGS homozygous for p.Ala177Thr variant. Patients were categorized into three groups based on the clinical severity through the composite functional severity score, although comparison was made with the more recently introduced AGS severity score. Disease onset was divided into neonatal, infantile, and later onset. Demographic, clinical, and laboratory data were collected and compared between these groups.</div></div><div><h3>Results</h3><div>Irritability at onset correlates significantly to the three functional categories. Early age at onset and presence of extrapyramidal signs correlate to functional outcomes when comparing mild with severe patients. Furthermore, retrospective application of AGS severity score correlated well with the commonly used composite functional severity score.</div></div><div><h3>Conclusion</h3><div>The authors observed irritability, early onset, and extrapyramidal signs not to be exclusive to the severe group, hence the need for creation of a composite predictive biomarker for prognosis accuracy.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 92-99"},"PeriodicalIF":2.1,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144828600","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}

{"title":"Influential Factors for Disclosing a Tuberous Sclerosis Complex Diagnosis to Romantic Partners","authors":"Laura Gorecki MS, CGC ,&nbsp;Syed Hashmi MD, MPH, PhD ,&nbsp;Jenny Do MS, CGC ,&nbsp;Laura Farach MD ,&nbsp;Hope Northrup MD ,&nbsp;Deborah Pearson PhD ,&nbsp;Kate Richardson MS, CGC","doi":"10.1016/j.pediatrneurol.2025.07.010","DOIUrl":"10.1016/j.pediatrneurol.2025.07.010","url":null,"abstract":"<div><h3>Background</h3><div>Tuberous sclerosis complex (TSC) is a genetic condition characterized by multiorgan tumor predisposition. Owing to the variability, heritability, and severity of the condition, individuals with TSC may face psychosocial challenges within romantic relationships including disclosing their diagnosis to romantic partners. Despite disclosure being explored in other genetic conditions, this area has not yet been explored in the TSC community, which faces unique challenges in overall health and quality of life.</div></div><div><h3>Methods</h3><div>This study surveyed independent adults with TSC regarding demographics, disclosure and nondisclosure factors, relationship and disclosure experiences, TSC features, and Brief-Illness Perception Questionnaire scores. The study aimed to identify patterns of diagnosis disclosure and assess factors considered in deciding when or whether to disclose, to increase understanding among clinicians and the community to provide better support.</div></div><div><h3>Results</h3><div>As the number of relationships increased, both the probability of disclosure to all partners (<em>P</em> &lt; 0.001) and the amount of time to disclose decreased (<em>P</em> = 0.007). Ethical obligation was the most heavily agreed-upon disclosure factor (81%), whereas fear of rejection was the most heavily agreed-upon nondisclosure factor (69%). Overall, 81% of participants considered disclosure to be challenging, 64% considered TSC to affect their desire to date, while 70% considered TSC to be a barrier to dating.</div></div><div><h3>Conclusions</h3><div>These findings highlight a need for facilitated discussion and psychosocial support for individuals with TSC in the realm of disclosure within romantic relationships. Such resources may increase support, positively impact disease management, and improve quality of life for the TSC community.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 72-79"},"PeriodicalIF":2.1,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144830710","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}

{"title":"Cerebral Blood Flow Abnormalities in Down Syndrome Regression Disorder","authors":"Mackenzie Silverman MD ,&nbsp;Panteha Hayati Rezvan PhD ,&nbsp;Benjamin N. Vogel BS ,&nbsp;Mariam M. Yousuf BS ,&nbsp;Maeve C. Lucas BS ,&nbsp;Lilia Kazerooni BS ,&nbsp;Saba Jafarpour MD ,&nbsp;Jonathan D. Santoro MD","doi":"10.1016/j.pediatrneurol.2025.07.007","DOIUrl":"10.1016/j.pediatrneurol.2025.07.007","url":null,"abstract":"<div><h3>Background</h3><div>This study aimed to examine cerebral blood flow velocity (CBFV) in the middle cerebral artery (MCA) and internal carotid artery (ICA) of individuals with Down syndrome (DS) and Down Syndrome Regression Disorder (DSRD).</div></div><div><h3>Methods</h3><div>A single-center, prospective observational study was performed to evaluate CBFV in individuals with DS and DSRD using transcranial Doppler (TCD) ultrasound. Individuals with DS without regression and DSRD were recruited in a 1:1 manner. TCD studies were performed using a standardized protocol for children.</div></div><div><h3>Results</h3><div>In total, 104 individuals were enrolled, with 60 (57.7%) having DSRD and 44 (42.3%) having DS only. Individuals with DSRD had lower average MCA values (mean difference: −6.89, 95% confidence interval [CI]: −12.88, −0.90; <em>P</em> = 0.024) and ICA values (−4.98, 95% CI: −9.58, −0.38; <em>P</em> = 0.034) when compared with individuals with DS only. These differences were more apparent in the left MCA (−8.97, 95% CI: −15.89, −2.06; <em>P</em> = 0.011) and left ICA (−5.65, 95% CI: −11.11, −0.19; <em>P</em> = 0.042). Age, hemodynamic measures, and neuropsychiatric disease severity did not modify the differences in MCA and ICA between patients with DSRD and DS. However, in patients with DSRD, MCA values decreased on average by −0.40 (95% CI: −0.78, −0.02; <em>P</em> = 0.038) for every unit increase in heart rate compared with patients with DS.</div></div><div><h3>Conclusions</h3><div>This study revealed CBFV alterations in individuals with DSRD when compared with DS alone, demonstrating reduced CBFV in both the MCA and ICA. These findings suggest disrupted cerebral autoregulation, potentially driven by the presence of catatonia in individuals with DSRD.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 34-40"},"PeriodicalIF":2.1,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144766733","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}

{"title":"Fourteen New Pediatric Cases of Shapiro Syndrome","authors":"Francesca Maccarelli MD ,&nbsp;Alice Muda MD ,&nbsp;Elisa Crotti MD ,&nbsp;Matilde Vedana MD ,&nbsp;Marina Riso MD ,&nbsp;Isabella Orlando MD ,&nbsp;Elisa Maria Fazzi MD, PhD ,&nbsp;Anna Ardissone MD, PhD ,&nbsp;Tiziana Granata MD, PhD ,&nbsp;Valentina De Giorgis MD, PhD ,&nbsp;Patrizia Accorsi MD ,&nbsp;Lucio Giordano MD","doi":"10.1016/j.pediatrneurol.2025.07.006","DOIUrl":"10.1016/j.pediatrneurol.2025.07.006","url":null,"abstract":"<div><h3>Background</h3><div>Spontaneous periodic hypothermia (SPH), also known as Shapiro syndrome, is a rare syndrome characterized by paroxysmal episodes of spontaneous hypothermia. The diagnosis of SPH is based on clinical features; there are no specific instrumental tests and no agreed diagnostic criteria. The pathogenetic mechanisms underlying SPH are unclear, and from the therapeutic point of view opinions are divergent. To date, very few cases have been reported in the literature and among these only 30 are pediatric cases. We aim to expand the current knowledge of pediatric-onset SPH by reporting 14 novel cases, including six with a positive family history.</div></div><div><h3>Results</h3><div>All patients in our case series present with paroxysmal episodes of hypothermia, associated in 71% of cases with hyperhidrosis at the onset of the episodes and later with other clinical signs such as pallor (86%), sleepiness (57%), or asthenia (57%). Four patients underwent whole exome sequencing to evaluate the presence of genetic variants potentially involved in the pathogenesis of SPH, which yielded negative results.</div></div><div><h3>Conclusions</h3><div>SPH is a rare condition and remains a diagnosis of exclusion, which must be suspected in patients presenting with paroxysmal episodes of otherwise unexplained hypothermia, with or without hyperhidrosis. Our numerous familial cases support the presence of a genetic component in the pathogenesis of SPH; further research will be needed to better understand the condition and its underlying mechanisms and to establish more effective diagnostic and treatment strategies.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 41-45"},"PeriodicalIF":2.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144770924","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}

{"title":"Point-of-Care Electroencephalography for Seizure Detection: Comparison of Electrode Placement in Two-Channel Electroencephalography","authors":"Chantal Gammenthaler-Zaugg MD ,&nbsp;Tatiani Soultana Ilia MM ,&nbsp;Robin Münger MM ,&nbsp;Andrea Seiler MD ,&nbsp;Regula Everts-Brekenfeld PhD ,&nbsp;Iciar Sanchez-Albisua PD","doi":"10.1016/j.pediatrneurol.2025.07.005","DOIUrl":"10.1016/j.pediatrneurol.2025.07.005","url":null,"abstract":"<div><h3>Background</h3><div>The use of few-electrode electroencephalography (EEG) for seizure detection in pediatric emergency departments is developing rapidly and is emerging to an important point-of-care bedside test. The aim of this study was to investigate if frontotemporal (FT) electrode placement (F7-T5 and F8-T6) is superior to the usual centroparietal (CP) electrode placement (C3-P3 and C4-P4) in seizure detection, when point-of-care two-channel EEG (tcEEG) is applied.</div></div><div><h3>Method</h3><div>We reviewed a sample of 38 prerecorded long-term EEGs (gold standard, international 10-20 EEG system) with prior detected electrographic epileptic seizures in children (38 participants, median age, 10.11 years). The EEG parameters were retrospectively converted into two tcEEGs (F7-T5 and F8-T6 vs C3-P3 and C4-P4) and were independently analyzed by two epileptologists who were unaware of the gold-standard EEG findings.</div></div><div><h3>Results</h3><div>Our primary outcome showed that there was no significant difference in seizure detection in FT electrode placement compared with CP placement (sensitivity 69.9% vs 72.9%). Furthermore, we found significantly higher false-positive rates with FT electrode placement in samples with high interictal spike frequency. CP electrode placement showed significantly lower false-negative rates for seizures with bilateral onset and seizures without side difference during propagation. No significant correlation of FT and CP electrode placement was found with other EEG parameters.</div></div><div><h3>Conclusions</h3><div>FT or CP tcEEG electrode placement does not differ in seizure detection. Both reduced electrode montages can be used with similar sensitivities for point-of-care EEG bedside testing in pediatric emergency settings. However, the CP electrode placement shows minor advantages compared with FT electrode placement.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 15-20"},"PeriodicalIF":2.1,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144889864","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}

{"title":"Epilepsy Surgery in Tuberous Sclerosis Complex: A TSC Natural History Database Study","authors":"Ajay Gupta MD ,&nbsp;Honglian Huang MD ,&nbsp;Nicolas R. Thompson MS ,&nbsp;Lara Jehi MD ,&nbsp;Demitre Serletis MD, PhD ,&nbsp;William E. Bingaman MD ,&nbsp;Nitin Agarwal MD","doi":"10.1016/j.pediatrneurol.2025.07.004","DOIUrl":"10.1016/j.pediatrneurol.2025.07.004","url":null,"abstract":"<div><h3>Background</h3><div>Only small series from tertiary care centers inform us on epilepsy surgery in tuberous sclerosis complex (TSC). The generalizability of these results to the wider epilepsy surgery community is unclear.</div></div><div><h3>Methods</h3><div>Epilepsy surgery data were collected from the National TSC Natural History Database (TSCNHD). Resective outcomes were also compared with a palliative procedure, namely, corpus callosotomy (CC). Proportional odds logistic regression and Poisson regression analyses were used.</div></div><div><h3>Results</h3><div>Of 2059 patients, 229 (13%) had epilepsy surgery at mean age 7.3 years. Common surgeries included tuberectomy/sublobar resection (44%) and lobectomy/multilobar resection (40%). Use of positron emission tomography (PET) (24%), single-photon emission computed tomography (SPECT) (20%), and magnetoencephalography (MEG) (29%) was low. Invasive long-term video electroencephalography was used in 29%. At mean follow-up of 6.8 years, good outcomes were noted in 56 (41%), moderate in 33 (24%), and poor in 49 (35%) patients. Compared with CC, tuberectomy/sublobar resection (odds ratio [OR], 11.58) and lobectomy/multilobar resection (OR, 5.99) were associated with good outcomes. When compared with CC, most antiseizure medication (ASM) reduction occurred in patients after tuberectomy/sublobar resection (<em>P</em> = 0.040).</div></div><div><h3>Conclusions</h3><div>Most TSC epilepsy surgeries in the United States were performed without use of PET, SPECT, or MEG. Lower rates of “good” seizure outcomes were observed in this real-world study when compared with previously published outcomes from tertiary care epilepsy centers. Best seizure outcomes were reported after a single tuber and lobar/multilobar resection with a high likelihood of ASM reduction on follow-up. TSCNHD provides a proof of concept in studying surgery outcomes in rare genetic diseases.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 28-33"},"PeriodicalIF":2.1,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144750816","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}

{"title":"Yield of Whole Exome Sequencing in Children With Cryptogenic Cerebral Palsy","authors":"Ashwin Vivek Sardesai DCH, DNB,&nbsp;Mahesh Kamate MD, DM","doi":"10.1016/j.pediatrneurol.2025.06.023","DOIUrl":"10.1016/j.pediatrneurol.2025.06.023","url":null,"abstract":"<div><h3>Background</h3><div>Recent studies indicate that a significant number of patients with cerebral palsy (CP) may have a genetic cause. However, data from India are limited, where inheritance patterns are likely to be different. We examined the yield of next-generation sequencing in identifying the genetic causes of CP in children with unclear etiology and described the genetic spectrum found.</div></div><div><h3>Methods</h3><div>Whole-exome sequencing (WES) was performed on 71 children with CP (aged under 18 years, with a stable, nonprogressive course) in whom no acquired cause was identified clinically or radiologically.</div></div><div><h3>Results</h3><div>The yield of WES was 53.52% (38 of 71 cases) for pathogenic (P) and likely-pathogenic (LP) variants, and 78.87% when including variants of uncertain significance. We identified 54 variants (12 P, 24 LP, and 18 variants of uncertain significance) across 46 genes, along with two pathogenic copy number variants in 38 of the 71 cases. Genes such as <em>AP4M1, ACSF1, AP4S1,</em> and <em>HACE1</em> showed P/LP variants in more than 1 case. The most common inheritance pattern (found in 30 of 38 cases) was autosomal recessive (78.95%), mainly due to high consanguinity in the cohort [53 of 71 (74.65%)]. We identified nine hereditary spastic paraplegia genes in 13 patients, three cases with Aicardi-Goutières syndrome genes, and four with genes associated with congenital disorders of glycosylation. The genes exhibited diverse pathogenic mechanisms, reflecting the heterogeneity of CP genes.</div></div><div><h3>Conclusions</h3><div>Careful selection of cohorts can enhance the genetic yield of WES in CP. Autosomal recessive variants are more common in populations with high rates of consanguinity.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 1-7"},"PeriodicalIF":2.1,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144721737","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}

{"title":"Successful Mechanical Thrombectomy and Balloon Angioplasty in Two Children With Arterial Ischemic Stroke Caused by Focal Cerebral Arteriopathy","authors":"Peter B. Sporns MD, MHBA ,&nbsp;Flavio Requejo MD","doi":"10.1016/j.pediatrneurol.2025.07.002","DOIUrl":"10.1016/j.pediatrneurol.2025.07.002","url":null,"abstract":"<div><h3>Background</h3><div>Mechanical thrombectomy (MT), although well established in adults, is gaining acceptance as a viable treatment in pediatric patients, especially with cardioembolic etiology. However, there is an ongoing debate about the use of MT in children with arterial ischemic stroke due to suspected focal cerebral arteriopathy (FCA). Here, we present two cases of pediatric arterial ischemic stroke with high suspicion of FCA successfully treated with MT, highlighting its potential utility in this population. In addition, both cases were treated with balloon angioplasty successfully; thus this report aims to open a discussion on this potential rescue treatment in children with FCA.</div></div><div><h3>Methods</h3><div>Clinical and imaging diagnosis, technical details of the procedure, and clinical course of the patients with suspected FCA are presented.</div></div><div><h3>Results</h3><div>Both children presented with M1 occlusions with clinical and imaging features suggesting underlying FCA. After initial thrombectomy, one child had an immediate reocclusion and one presented with residual high-grade stenosis. In both cases, balloon angioplasty of the M1 segment was performed and follow-up imaging confirmed regressive stenosis. Both children had favorable neurological outcomes with a modified Rankin Scale score of 1 at 90 days and one year, respectively.</div></div><div><h3>Conclusion</h3><div>We describe the successful endovascular treatment of two children with occlusion of the middle cerebral artery due to suspected FCA. In carefully selected and severely affected patients, balloon angioplasty may be an option to secure blood flow distal of the occlusion.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 46-53"},"PeriodicalIF":2.1,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144780738","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}