Pediatric neurology最新文献

{"title":"The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes","authors":"Semra Gürsoy MD ,&nbsp;Ceren Yılmaz Uzman MD ,&nbsp;Kadri Murat Erdoğan MD ,&nbsp;Pakize Karaoğlu MD ,&nbsp;Tuba Sözen Türk MD ,&nbsp;Ünsal Yılmaz MD ,&nbsp;Aycan Ünalp MD ,&nbsp;Filiz Hazan MD","doi":"10.1016/j.pediatrneurol.2025.01.016","DOIUrl":"10.1016/j.pediatrneurol.2025.01.016","url":null,"abstract":"<div><h3>Background</h3><div>X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. In this study, we aimed to describe the clinical and molecular spectrum of patients with XLID. We also evaluated the clinical efficacy of a targeted gene panel in patients with suspected XLID.</div></div><div><h3>Methods</h3><div>Eighty-four patients with suspected XLID were enrolled in the study. Array comparative genomic hybridization, fragile X fragman analysis, and targeted XLID gene panel were performed.</div></div><div><h3>Results</h3><div>Genetic diagnosis was established in a total of 24 patients (22 male and two female) with XLID. Different copy number variations of the X chromosome were detected in four patients, including two duplications and two deletions. Fifteen patients had fragile X syndrome. Point mutations were detected in five unrelated patients. Variants detected in <em>RPS6KA3</em> gene were previously reported by our team. A novel two-nucleotide deletion was shown in the <em>MID1</em> gene. Additionally, novel missense variations were revealed in <em>IL1RAPL1</em> and <em>ATRX</em> genes. The <em>IL1RAPL1</em> variant was detected in additional five affected male patients in the same family. The patient, who had <em>ATRX</em> variation, had pachygyria in the cerebral cortex and hypoplasia of cerebellar vermis.</div></div><div><h3>Conclusions</h3><div>Our findings have broadened the spectrum of mutations and clinical manifestations of patients with XLID. Additionally, this represents the second reported missense variation in the <em>IL1RAPL1</em> gene identified in patients with XLID. We also emphasized the importance of a stepwise diagnostic algorithm that incorporates chromosomal microarray analysis, <em>FMR1</em> gene repeat analysis, and next-generation sequencing analysis for patients with XLID.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 43-51"},"PeriodicalIF":3.2,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143402025","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":"Provider Perspectives of Barriers to Delivering Care for Pediatric Functional Neurological Disorder: A Thematic Analysis","authors":"Jeannette M. Iskander PhD ,&nbsp;Jason Kreuzman OTR/L ,&nbsp;Meagan Watson MPH, MBA ,&nbsp;Gayle Chesley PhD ,&nbsp;Karen Zeribi MHS ,&nbsp;Amanda Hopper MLS ,&nbsp;Tamara Powell PhD ,&nbsp;Laura Simon MD ,&nbsp;Aaron D. Fobian PhD","doi":"10.1016/j.pediatrneurol.2025.01.011","DOIUrl":"10.1016/j.pediatrneurol.2025.01.011","url":null,"abstract":"<div><h3>Background</h3><div>Functional neurological disorder (FND) is a multinetwork brain disorder existing at the intersection of neurology and psychiatry. FND often takes significant time to receive diagnosis and treatment. Given these delays, the purpose of the present study was to identify barriers to FND care from the provider perspective.</div></div><div><h3>Methods</h3><div>The Functional Neurological Disorder Society Pediatric Special Interest Group asked pediatric FND providers to specify barriers to FND treatment in their center in the United States. Two authors conducted thematic analyses to extract themes between respondents’ qualitative responses.</div></div><div><h3>Results</h3><div>Our analysis found that the US health care system is not adequately designed to provide timely and sufficient treatment for pediatric FND. Four subthemes emerged. First, providers identified limited access to health care professionals (HCPs) with specialized expertise in pediatric FND. The second delineated the lack of HCP education and competence in FND. Third, providers indicated the challenge of coordinating care and establishing bidirectional communication with their colleagues. Finally, providers identified financial support, including insurance coverage, as a barrier.</div></div><div><h3>Conclusions</h3><div>The present study highlights barriers to care for pediatric patients with FND from the provider perspective in the United States. These barriers existed regardless of geography, treatment type, discipline, or specialty highlighting opportunities to intervene. By improving provider education, general practitioners may gain increased confidence in quickly delivering an FND diagnosis; this could also allow additional providers to become experts in treating FND, thus decreasing delays to initiating care. Additionally, advocacy for increased insurance coverage may also help to eliminate treatment-related disparities for pediatric FND.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 68-73"},"PeriodicalIF":3.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143419061","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":"Social Determinants of Genetics Referral and Completion Rates Among Pediatric Neurology Patients","authors":"Jordan J. Cole MD ,&nbsp;Angela D. Sellitto MS ,&nbsp;Laura Rosa Baratta BS ,&nbsp;Julia B. Huecker MS ,&nbsp;Joyce (Joy) E. Balls-Berry PhD, MPE ,&nbsp;Christina A. Gurnett MD, PhD","doi":"10.1016/j.pediatrneurol.2025.01.018","DOIUrl":"10.1016/j.pediatrneurol.2025.01.018","url":null,"abstract":"<div><h3>Background</h3><div>To investigate clinical, social, and systems-level determinants predictive of genetics clinic referral and completion of genetics clinic visits among pediatric neurology patients.</div></div><div><h3>Methods</h3><div>Electronic health record (EHR) data were extracted from pediatric patients (0-18 years) evaluated in pediatric neurology clinics at a single tertiary care institution between July 2018 and January 2020. Referral and referral completion rates to genetics clinics were compared among non-Hispanic single- or multiracial Black (Black) versus non-Hispanic White (White) patients using bivariablee analysis. Other ethnoracial identities were excluded due to small numbers. Variables associated with genetics clinic referral and visit completion were identified using logistic regressions.</div></div><div><h3>Results</h3><div>In a cohort of 11,371 pediatric neurology patients, 304 were referred to genetics clinic and 229 (75.3%) completed genetics clinic visits. In multivariable analyses of Black and White patients (n = 10,601), genetics clinic referral rates did not differ by ethnoracial identity but were associated with younger age, rurality, neurodevelopmental disorder diagnosis, number of neurology clinic visits, and provider type. Genetics clinic visit completion rates were associated with number of neurology clinic visits and ethnoracial identity, with White patients twice as likely as Black patients to complete the visit (adjusted odds ratio=2.18; 95% confidence interval 1.06-4.48).</div></div><div><h3>Conclusions</h3><div>Although no disparity in genetics clinic referral rates was identified, White patients were twice as likely as Black patients to complete a genetics clinic visit after referral. Further work is needed to determine whether this is due to systemic/structural racism, differences in attitudes toward genetics, or other factors.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 78-86"},"PeriodicalIF":3.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143438018","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":"Folic Acid Prescribing and Reproductive Counseling Practices of Child Neurologists for Women With Epilepsy","authors":"Mariah Ozkir MD,&nbsp;Derryl Miller MD","doi":"10.1016/j.pediatrneurol.2025.01.015","DOIUrl":"10.1016/j.pediatrneurol.2025.01.015","url":null,"abstract":"<div><h3>Background</h3><div>Women with epilepsy (WWE) experience stigma related to reproductive health. Pediatric neurologists are often uncomfortable providing age-appropriate reproductive health counseling (RHC) and prescribing folic acid (FA). We studied RHC and FA prescribing practices for child neurologists and provide a literature review for FA dosing maximizing benefit for WWE and their children.</div></div><div><h3>Methods</h3><div>We performed a retrospective cross-sectional study of RHC and FA prescribing by child neurologists at our center for 227 consecutive WWE from January to June 2022. We studied patient age, teratogenic risk of antiseizure medications (ASMs), number of ASMs, presence/absence of intellectual disability (ID), and physician board certification. ASM teratogenic risk was determined utilizing the North American Antiepileptic Drug Pregnancy Registry (NAADPR) database with ≥2.5% threshold of major malformation for high risk, &lt;2.5% for low risk, and no NAADPR data for unknown risk.</div></div><div><h3>Results</h3><div>Pediatric neurologists inconsistently prescribe FA (11%) and document RHC (10%). WWE on valproic acid receive FA more often (31% vs 9.6%, <em>P</em> = 0.004, χ² = 8.28) but similar RHC to WWE on other ASMs (<em>P</em> = 0.080, χ² = 3.06). Epileptologists do not prescribe FA more than general neurologists (<em>P</em> = 0.65, χ² = 0.19), and general neurologists document RHC more often (18% vs 4%, <em>P</em> = 0.00047, χ² = 4.21). WWE aged 16-18 years receive RHC more than WWE aged 12-15 years (12.7% vs 10.5%, <em>P</em> = 0.025, χ² = 4.96) with no difference in FA prescriptions (<em>P</em> = 0.60, χ² = 0.27). Patients with ID receive FA less often (6% vs 15%, <em>P</em> = 0.035, χ² = 4.44) with no difference in RHC (<em>P</em> = 0.29, χ² = 1.09).</div></div><div><h3>Conclusions</h3><div>We quantify a significant gap in care for WWE to facilitate quality improvement initiatives. Preconceptional FA 1 mg orally daily seems appropriate for WWE with present knowledge.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 52-55"},"PeriodicalIF":3.2,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143402840","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":"Serendipity Can Rule the Day: Remarkable Efficacy of a Mushroom Extract Powder in Childhood Treatment-Resistant Epilepsy","authors":"Olivia Kim-McManus MD ,&nbsp;Sarah Boylan ,&nbsp;Mark Nespeca MD","doi":"10.1016/j.pediatrneurol.2025.01.017","DOIUrl":"10.1016/j.pediatrneurol.2025.01.017","url":null,"abstract":"<div><div><em>Introduction:</em> The goal of this report is to highlight an unanticipated effect of medicinal mushroom supplement in reducing seizures in a child.</div></div><div><h3>Methods</h3><div>A detailed case report and literature review.</div></div><div><h3>Results</h3><div>Medicinal mushroom extract supplementation resulted in a sustained 98% reduction in seizure frequency three years after initiation.</div></div><div><h3>Discussion</h3><div>This case report provides details of the child's case and reviews the limited literature related to medicinal mushroom therapy for epilepsy with the intent to stimulate interest in more detailed study of medicinal mushroom compounds for the treatment of treatment-resistant epilepsy.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 56-59"},"PeriodicalIF":3.2,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143402026","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 Features and Prognostic Factors of Pediatric Guillain-Barré Syndrome With Anti-Sulfatide Antibody","authors":"La-Mei Chen MM ,&nbsp;Juan Wang MD ,&nbsp;Xiao-Ling Peng DSc ,&nbsp;Ming-Xuan Fan MSc ,&nbsp;Hai-Lun Peng MM ,&nbsp;Yue Hu MD","doi":"10.1016/j.pediatrneurol.2025.01.013","DOIUrl":"10.1016/j.pediatrneurol.2025.01.013","url":null,"abstract":"<div><h3>Background</h3><div>The study analyzed the clinical features and risk factors for poor prognosis in children with Guillain-Barré syndrome (GBS) spectrum disorders positive for anti-sulfatide antibodies.</div></div><div><h3>Methods</h3><div>Clinical and follow-up data of 43 children diagnosed with GBS spectrum disorders positive for serum and/or cerebrospinal fluid anti-sulfatide antibodies and treated at the Children's Hospital of Chongqing Medical University between July 2018 and April 2023 were analyzed. A 1:1 matching was performed for a comparative analysis of clinical features.</div></div><div><h3>Results</h3><div>Respiratory tract prodromal infection was common in the positive anti-sulfatide antibody group (53.4%, 23 of 43). The main presenting symptoms were limb weakness (67.4%, 29 of 43), pain (67.4%, 29 of 43), ataxia (32.5%, 14 of 43), and cranial nerve involvement (62.8%, 27 of 43). The clinical classification was predominantly classical GBS (76.7%, 33 of 43), with a high prevalence of acute inflammatory demyelinating polyneuropathy (41.2%, 20 of 33). Brainstem and medulla lesions were the main cranial magnetic resonance imaging (MRI) findings (16.7%, six of 36), and spinal cord MRI (32.5%, 14 of 34) showed cauda equina or partial nerve root enhancement. The following features showed a significant difference in prevalence between the anti-sulfatide-antibody-positive and -negative groups: gender, cranial nerve involvement, nerve root tension sign, abnormal brain MRI, GBS disability score (GBS-DS) at discharge, difference in GBS-DS between admission and discharge, and GBS-DS at one-month follow-up. Shorter time to peak was identified as an independent risk factor for poor short-term prognosis in GBS spectrum disorders with positive anti-sulfatide antibodies.</div></div><div><h3>Conclusions</h3><div>GBS spectrum disorders with positive anti-sulfatide antibodies have a relatively specific clinical phenotype. Shorter time to peak was an independent risk factor for poor prognosis.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 31-39"},"PeriodicalIF":3.2,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143387052","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":"Challenges in Management of Febrile Infection-Related Epilepsy Syndrome: Real-World Experience From a Large Cohort of Pediatric Patients","authors":"Ramya Bandi MD ,&nbsp;Vivek Jain MD ,&nbsp;Lokesh Lingappa DM ,&nbsp;Ravi Sharma MD ,&nbsp;Sudheeran Kannoth DM ,&nbsp;Ramesh Konanki DM","doi":"10.1016/j.pediatrneurol.2025.01.014","DOIUrl":"10.1016/j.pediatrneurol.2025.01.014","url":null,"abstract":"<div><h3>Background</h3><div>Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic neuroinflammatory disorder with refractory status epilepticus. The disease management continues to pose significant challenges.</div></div><div><h3>Methods</h3><div>A retrospective observational study of patients with FIRES managed at tertiary care centers in India. The follow-up outcome was assessed using the Clinical Assessment Scale in Autoimmune Encephalitis (CASE).</div></div><div><h3>Results</h3><div>Forty-one children (27 males) were eligible. The mean presentation age was 7.2 years (range, 2-14). A median of 7 (range, 2-12) antiseizure medications (ASMs) were tried before pharmacologic coma, which was subsequently required in all patients. The pharmacologic coma was induced for a median duration of 11 days (range, 1-125), with midazolam (41) being the most common medication, followed by ketamine (33), thiopentone (18), and isoflurane (13). Only a minority had seizure resolution on pharmacologic coma (ketamine 21%, midazolam 17%, and thiopentone 16.6%). Ninety-seven percent children also concurrently received methylprednisolone (40), 63% intravenous immunoglobulin (26), 32% rituximab (13), 32% cyclophosphamide (13), and 56% ketogenic diet (23). At a median follow-up of 37 months (range, 9-96), 34% (14) children had died. Of the remaining 27, epilepsy was poorly controlled in the majority (18 children, 67%). Also, 14 patients had a CASE score of ≤5 (<em>good outcome</em>) and 13 had a score of &gt;5 (<em>poor outcome</em>). In both groups, there was no statistically significant difference in outcomes with the ketogenic diet, pharmacologic coma, or immunomodulatory therapies.</div></div><div><h3>Conclusions</h3><div>The management of FIRES in children is challenging, with limited effectiveness of most currently practiced anesthetic agents and conventional immunomodulatory therapies in seizure control and in altering the outcome in FIRES.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 9-15"},"PeriodicalIF":3.2,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143137860","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":"Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy Associated With Rhabdomyolysis: A Case Report","authors":"Linda Nguyen MD, PhD,&nbsp;Isabella Strozzi MD,&nbsp;Sheetal Hegde MD,&nbsp;Benjamin M. Greenberg MD, MHS","doi":"10.1016/j.pediatrneurol.2025.01.012","DOIUrl":"10.1016/j.pediatrneurol.2025.01.012","url":null,"abstract":"<div><h3>Background</h3><div>Glial fibrillary acid protein (GFAP) astrocytopathy is an autoimmune central nervous system disorder that rarely affects children. We describe a case of GFAP astrocytopathy with associated rhabdomyolysis in a pediatric patient.</div></div><div><h3>Methods</h3><div>We report a case report from a tertiary care university hospital.</div></div><div><h3>Results</h3><div>An 11-year-old girl developed subacute progressive neurological symptoms, beginning with vision changes and later followed by gait instability and lower extremity weakness over 2 months. On the day of presentation, she experienced new-onset upper extremity weakness. Examination revealed severe weakness of all 4 limbs and areflexia. She also had hematuria, with markedly elevated creatine kinase level of 64,408 U/L. Magnetic resonance imaging showed T2 hyperintensity in the optic chiasm and tract, a longitudinally extensive cord lesion, and cauda equina enhancement. Cerebrospinal fluid analysis revealed pleocytosis, elevated protein, and GFAP antibodies detected by cell-based assay. An electromyogram/nerve conduction study suggested peripheral nervous system involvement. Treatment with intravenous methylprednisolone, plasmapheresis, intravenous immunoglobulin, and rituximab led to partial clinical improvement.</div></div><div><h3>Conclusion</h3><div>This case highlights a rare presentation of GFAP astrocytopathy with subacute visual loss, severe weakness, areflexia, and rhabdomyolysis. Clinicians should consider GFAP astrocytopathy in pediatric patients presenting with combined central and peripheral nervous system involvement.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 40-42"},"PeriodicalIF":3.2,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143394654","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":"Long-Term Outcome and Social-Intellectual Ability of Patients With Basal Ganglia Germinoma","authors":"Michinari Okamoto MD, PhD,&nbsp;Shigeru Yamaguchi MD, PhD,&nbsp;Ryosuke Sawaya MD, PhD,&nbsp;Yukitomo Ishi MD, PhD,&nbsp;Hiroaki Motegi MD, PhD,&nbsp;Yukayo Terashita MD,&nbsp;Minako Sugiyama MD,&nbsp;Yuko Cho MD,&nbsp;Kentaro Nishioka MD, PhD,&nbsp;Takashi Mori MD, PhD,&nbsp;Takayuki Hashimoto MD, PhD,&nbsp;Hidefumi Aoyama MD, PhD,&nbsp;Atsushi Manabe MD, PhD,&nbsp;Miki Fujimura MD, PhD","doi":"10.1016/j.pediatrneurol.2025.01.009","DOIUrl":"10.1016/j.pediatrneurol.2025.01.009","url":null,"abstract":"<div><h3>Background</h3><div>In this study, we aimed at delineating the still ambiguous clinical characteristics and long-term outcomes of basal ganglia (BG) germinoma from the aspect of recurrence-free survival as well as social and intellectual activity.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed medical records and imaging data for 12 patients with BG germinoma diagnosed and treated between 1996 and 2020, collecting the most recent status via medical records or telephone from the patients.</div></div><div><h3>Results</h3><div>The tumors involved the right and left sides and bilateral locations in three, seven, and two cases, respectively. The median follow-up period was 179 months. Six patients exhibited onset neuropsychologic symptoms, for example, cognitive decline or behavior disorder. We evaluated the intelligence quotient (IQ) in 10 patients and observed significantly lower IQ scores in six patients with neuropsychologic symptoms. Patients with right-sided lesions displayed average IQ levels (median 106), whereas those with left-sided or bilateral lesions had reduced IQ (median 67). A complete response was achieved by primary chemoradiotherapy in all patients. Three patients who underwent focal or whole-ventricle irradiation experienced recurrence, whereas no recurrence was observed in patients who received whole-brain irradiation (WBI). Concerning the neurocognitive outcomes, three and six patients with unilateral right and left lesions were living self-independently (Karnofsky Performance Status [KPS] ≧ 70), whereas the three remaining patients (one with left and two with bilateral lesions) had a dependent status (KPS &lt;70).</div></div><div><h3>Conclusions</h3><div>WBI is crucial for disease control in BG germinoma. Furthermore, lesion laterality might affect neuropsychologic symptoms including IQ at diagnosis and neurocognitive outcomes in BG germinoma.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages 16-21"},"PeriodicalIF":3.2,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143349628","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":"Neuropsychology's Role in Multidisciplinary Follow-Up Care of Neurologically Complex Infants and Toddlers","authors":"Lauren E. Miller PhD ,&nbsp;Danielle M. Glad PhD ,&nbsp;Jessica C. Luepke MS ,&nbsp;Jennifer I. Koop PhD ,&nbsp;Samuel J. Adams MD ,&nbsp;Katherine A. Carlton MD ,&nbsp;Susan S. Cohen MD ,&nbsp;Amy K. Heffelfinger PhD","doi":"10.1016/j.pediatrneurol.2025.01.008","DOIUrl":"10.1016/j.pediatrneurol.2025.01.008","url":null,"abstract":"<div><h3>Background</h3><div>Adverse effects on brain development prenatally and during early childhood can disrupt cognitive development, with earlier neural insults often proving to be particularly detrimental. As such, infants and toddlers with neurological conditions are at increased risk for medical and neurodevelopmental complications. Pediatric neuropsychologists are well suited to evaluate brain-behavior relationships and identify emergent delays in these patients. The roles of pediatric neuropsychology in the care of neurologically complex young children are reviewed and discussed by highlighting a novel neonatal intensive care unit (NICU) follow-up clinic model.</div></div><div><h3>Methods</h3><div>The Developmentally Ready: Engagement for Achievement of Milestones (DREAM) Clinic is a multidisciplinary NICU follow-up clinic designed for the care of neurologically complex young children. The DREAM Clinic is led by neonatal neurology and supported by pediatric neuropsychology, neonatology, physical medicine and rehabilitation, and pediatric psychology.</div></div><div><h3>Results</h3><div>The review of pediatric neuropsychologists’ contributions to the DREAM Clinic elucidated that pediatric neuropsychologists are valuable care partners to both medical providers and families in this multidisciplinary setting.</div></div><div><h3>Conclusions</h3><div>The DREAM Clinic provides a model for the structure, feasibility, and importance of involving pediatric neuropsychologists in the multidisciplinary developmental follow-up care of neurologically complex young children.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 122-128"},"PeriodicalIF":3.2,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075300","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}