Pediatric neurology最新文献

{"title":"Sleep Disturbances in Children With Septo-Optic Dysplasia: A Retrospective Cohort Study","authors":"Grae McCarty BA ,&nbsp;Megana Iyer BS ,&nbsp;Hana Danieli MD ,&nbsp;Egambaram Senthilvel MD ,&nbsp;Cemal Karakas MD ,&nbsp;Emily Singer MD","doi":"10.1016/j.pediatrneurol.2025.08.013","DOIUrl":"10.1016/j.pediatrneurol.2025.08.013","url":null,"abstract":"<div><h3>Background</h3><div>Septo-optic dysplasia (SOD) is a heterogeneous neurodevelopmental disorder diagnosed based on the presence of two or more of the following findings: optic nerve hypoplasia, absence of the septum pellucidum and/or dysgenesis of the corpus callosum, and pituitary hormone abnormalities. Sleep disturbances in SOD are common; however, they have not been well characterized. This study investigates sleep disturbances in patients with SOD.</div></div><div><h3>Methods</h3><div>This was a retrospective study that included children under age 21 years with a diagnosis of SOD. Sleep histories and polysomnographic (PSG) data were collected.</div></div><div><h3>Results</h3><div>109 patients (male:female = 47:62) with SOD were identified. Of these, 61 (56%) had various sleep disturbances, including snoring (n = 34; 56%), insomnia (n = 12; 20%), and/or frequent arousals (n = 8; 13%). Thirteen patients had PSG at a mean age of 5.2 years (S.D.: 3.02). Mean total sleep time was 396.6 minutes (S.D.: 81.21), mean sleep latency was 35.01 minutes (S.D.: 31.26), and mean wake after sleep onset was 72.9 (S.D.: 75.68). Mean sleep efficiency was 75.9% (S.D.: 26.6); mean percentage of N1 sleep was 0.38% (S.D.: 0.62), of N2 sleep was 41.8% (S.D.: 10.1), of N3 sleep was 38.7% (S.D.: 15.6), and of rapid eye movement (REM) was 19.2% (S.D.: 11.3). Mean apnea-hypopnea index (AHI) was 6.8 (S.D. 10.4). Mean REM AHI was 18.1 (S.D.: 24.9). Mean arousal index was 8.88 (S.D.: 7.85).</div></div><div><h3>Conclusions</h3><div>Patients with SOD frequently have sleep disturbance and are at risk for fragmented sleep and obstructive sleep apnea. These patients may benefit from regular screening of sleep problems and evaluation by sleep medicine specialists.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 111-117"},"PeriodicalIF":2.1,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145045013","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":"Atypical Clinical and Neuroimaging Presentation of Glutaric Aciduria Type 1","authors":"Gayatri Pawar MD,&nbsp;Mahesh Kamate MD, DM,&nbsp;Virupaxi Hattiholi MD","doi":"10.1016/j.pediatrneurol.2025.08.012","DOIUrl":"10.1016/j.pediatrneurol.2025.08.012","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 109-110"},"PeriodicalIF":2.1,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145019843","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":"Validation and Modified Application of the 2023 International Expert Consensus Criteria for Diagnosing Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease Among Children With Acquired Demyelination in Resource-Limited Regions","authors":"Vishal Sondhi DM ,&nbsp;Neelu Desai MD ,&nbsp;Lokesh Lingappa DM ,&nbsp;Vrajesh Udani MD ,&nbsp;Naveen Sankhyan DM ,&nbsp;Sheffali Gulati MD ,&nbsp;Vykuntaraju K. Gowda DM ,&nbsp;Lokesh Saini DM ,&nbsp;Rachana Dubey DM ,&nbsp;Ramesh Konanki DM ,&nbsp;Jyotindra Narayan Goswami DM ,&nbsp;Abhijeet Botre DNB ,&nbsp;Pradnya Gadgil MRCPCH ,&nbsp;Gouri Rao Passi MD ,&nbsp;Anaita Udwadia Hegde MD ,&nbsp;Mahesh Kamate DM ,&nbsp;Abhishek Ravindra Jain MD ,&nbsp;Jaya Shankar Kaushik DM ,&nbsp;Suvasini Sharma DM ,&nbsp;Kavita Srivastava MD ,&nbsp;Ankit Kumar Meena DM","doi":"10.1016/j.pediatrneurol.2025.08.010","DOIUrl":"10.1016/j.pediatrneurol.2025.08.010","url":null,"abstract":"<div><h3>Background</h3><div>This study was undertaken to validate the 2023 myelin oligodendrocyte glycoprotein (MOG) antibody (Ab)-associated disease (MOGAD) diagnostic criteria among children with acquired demyelinating syndromes.</div></div><div><h3>Methods</h3><div>In this multicentric retrospective study, all children aged &lt;18 years, diagnosed or followed up by pediatric neurologists for acquired demyelination between January 1, 2017, and December 31, 2022, were included if they had undergone at least one MOG-Ab testing. The 2023 MOGAD diagnostic criteria were applied retrospectively. The pediatric neurologist's clinical diagnosis of MOGAD served as the gold standard to assess the criteria's performance using sensitivity, specificity, PPV, and NPV.</div></div><div><h3>Results</h3><div>A total of 388 children were subjected to the 2023 MOGAD criteria. A clinical diagnosis of MOGAD was made in 190 children (true-positives), having a median (IQR) age of 7 (4.7-10) years and a median (IQR) follow-up of 48 (41-56) months; 196 children were true-negatives, not fulfilling 2023 criteria or diagnosed as MOGAD. Two children were false-positives, fulfilling criteria but diagnosed as multiple sclerosis. The 2023 MOGAD diagnostic criteria demonstrated a sensitivity of 100% (95% CI = 98.02%, 100%), specificity of 98.99% (95% CI = 96.39%, 99.82%), PPV of 98.96% (95% CI = 96.28%, 99.81%), NPV of 100% (95% CI = 98.08%, 100%), and diagnostic accuracy of 99.48% (95% CI = 98.15%, 99.94%). MOGAD criteria performed similar to MOG-Ab alone, as all MOGAD diagnoses were confined to seropositive patients.</div></div><div><h3>Conclusion</h3><div>The study demonstrates excellent performance of the 2023 MOGAD diagnostic criteria among children with acquired demyelination; however, the criteria did not enhance the diagnostic accuracy of antibody testing alone.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 138-145"},"PeriodicalIF":2.1,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145086633","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":"Pediatric Anti-N-methyl-D-aspartate Receptor Encephalitis Presenting With Peripheral Spinal Nerve Root Enhancement","authors":"Desiree D'Souza MD, MS,&nbsp;Emma Hickman MD,&nbsp;Alexandra B. Kornbluh MD","doi":"10.1016/j.pediatrneurol.2025.08.009","DOIUrl":"10.1016/j.pediatrneurol.2025.08.009","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 134-135"},"PeriodicalIF":2.1,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145045016","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":"Author's Reply: Letter to the Editor: Utility of Cranial Ultrasound to Investigate Brain Injury in Hypoxic-Ischemic Encephalopathy","authors":"Aine Fox,&nbsp;Rocco Cuzzilla,&nbsp;Ailbhe Tarrant,&nbsp;Adam Reynolds,&nbsp;Michael Geary,&nbsp;Miriam Martinez-Biarge,&nbsp;Breda Hayes","doi":"10.1016/j.pediatrneurol.2025.08.011","DOIUrl":"10.1016/j.pediatrneurol.2025.08.011","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 136-137"},"PeriodicalIF":2.1,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145080505","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":"EEG Scoring Systems in Developmental Epileptic Encephalopathies With and Without Epileptic Spasms: A Comparative Analysis of Reliability and Diagnostic Clarity","authors":"Itay Tokatly Latzer MD ,&nbsp;Catherine L. Salussolia MD ,&nbsp;Mark H. Libenson MD ,&nbsp;Nishtha Gupta MD ,&nbsp;Stephanie L. Donatelli MD, PhD ,&nbsp;Félixe Pelletier MD ,&nbsp;Christina Briscoe MD ,&nbsp;Avantika Singh MD ,&nbsp;Ann M. Bergin MB ,&nbsp;Chellamani Harini MD","doi":"10.1016/j.pediatrneurol.2025.08.005","DOIUrl":"10.1016/j.pediatrneurol.2025.08.005","url":null,"abstract":"<div><h3>Background</h3><div>The Burden of AmplitudeS and Epileptiform Discharges (BASED) and “Hypsarrhythmia Scoring System” (HSS) serve to evaluate the interictal EEG in infantile epileptic spasms (ES) syndrome (IESS). We aimed to assess these scoring systems' reliability and diagnostic utility in infants with IESS and other developmental and epileptic encephalopathies (DEEs) without ES.</div></div><div><h3>Methods</h3><div>Three epileptologists from a single medical center scored the deidentified EEG tracings of 110 infants, 58 with IESS, and 52 with other DEEs (of similar age and sex distributions), according to the BASED and HSS scoring systems. Inter-rater agreement (IRA) for both scoring systems was assessed.</div></div><div><h3>Results</h3><div>High-severity BASED and HSS scores (suggesting epileptic encephalopathy or hypsarrhythmia) were noted in 76% and 78% of the IESS infants and 44% and 56% of the other DEE infants, respectively. In IESS, the IRA of BASED was “excellent” (Intraclass correlation coefficient 0.91 [95% confidence interval (CI) 0.87-0.94]) and of HSS “good” (intraclass correlation coefficient 0.85 [95% CI 0.75-0.87]). IRAs for high-severity scores were “good” for BASED (Ƙ_Free 0.72 [95% CI 0.58-0.86]) and “fair” for HSS (Ƙ_Free 0.59 [95% CI 0.43-0.75]).</div></div><div><h3>Conclusions</h3><div>High-severity BASED and HSS scores, traditionally associated with IESS, may appear in nearly half of infants with DEEs without ES and be absent in a quarter of infants with IESS. Clinical judgment is essential for IESS-related diagnostic and therapeutic decision-making in infants with DEEs who present with abnormal undiagnosed movements and high-severity scores on EEGs (indicating epileptic encephalopathy or hypsarrhythmia). In IESS, the BASED scoring system shows better inter-rater reliability than HSS.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 78-85"},"PeriodicalIF":2.1,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144989227","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":"Pediatric N-Methyl-d-Aspartate Receptor Encephalitis is Differentiated From Encephalitis Mimickers by Early Elevated Blood Pressure","authors":"Naomi R. Kass BA ,&nbsp;Elizabeth Ledbetter BS ,&nbsp;Timothy A. Erickson PhD ,&nbsp;Jonathan M. Yarimi MD ,&nbsp;Anthony Zoghbi MD ,&nbsp;Eyal Muscal MD ,&nbsp;Kristy O. Murray DVM, PhD ,&nbsp;Kristen S. Fisher DO ,&nbsp;Alexander J. Sandweiss MD, PhD","doi":"10.1016/j.pediatrneurol.2025.08.006","DOIUrl":"10.1016/j.pediatrneurol.2025.08.006","url":null,"abstract":"<div><h3>Background</h3><div>Pediatric <em>N</em>-methyl-<span>d</span>-aspartate receptor (NMDAR) encephalitis (pNMDARE) is characterized by severe neuropsychiatric symptoms and prolonged hospitalization and recovery. Early pNMDARE diagnosis is complicated by neuropsychiatric mimickers requiring strong clinical suspicion to escalate to the required lumbar puncture (LP), delaying diagnosis and treatment. Since autonomic dysfunction is a cardinal feature of pNMDARE, we hypothesized that early vital signs serve as a potential noninvasive biomarker to screen for appropriate escalation of pNMDARE evaluation.</div></div><div><h3>Methods</h3><div>This is a retrospective, case-control analysis of patients with pNMDARE between 2021 and 2023. Patients diagnosed with pNMDARE as determined by clinical presentation and positive cerebrospinal fluid (CSF) antibodies (Abs) were compared with control subjects who were evaluated for pNMDARE, including an LP, but were negative.</div></div><div><h3>Results</h3><div>Fifty-seven patients were included for analysis: 23 diagnosed with pNMDARE and 34 without. When standardized for age, sex, and height, the pNMDARE group had higher systolic and diastolic BP percentiles (BP%ile) compared with the anti-NMDAR Ab–negative group (systolic BP%: 95.0% ± 2.3% vs 68.8% ± 4.4%, respectively, <em>P</em> &lt; 0.001; diastolic BP%: 88.3% ± 2.8% vs 61.3% ± 4.1%, respectively; <em>P</em> &lt; 0.001). A receiver operator curve indicated that the shortest Euclidian distance for systolic BP%ile was 99^th%ile (specificity, 85.3%; sensitivity, 65.2% <em>P</em> &lt; 0.0001) and for diastolic BP%ile was 88.5^th%ile (specificity, 73.5%; sensitivity, 65.2%; <em>P</em> &lt; 0.005).</div></div><div><h3>Conclusions</h3><div>Although CSF Ab is required for the diagnosis of pNMDARE, screening tools may help hasten clinical suspicion for the need for an LP. We identified elevated BP as a potential differentiating early clinical marker specific to pNMDARE. This fact corroborates our current understanding of dysautonomia in pNMDARE and provides a potential clinical marker suitable for future research and validation.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 71-77"},"PeriodicalIF":2.1,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144933018","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 Phenotype, Predictors and Early Biomarkers of Dyskinetic Cerebral Palsy Prognosis","authors":"Victoria D'Amours ,&nbsp;Nafisa Husein ,&nbsp;Mary Dunbar MD ,&nbsp;Darcy Fehlings MD ,&nbsp;Ram Mishaal MD ,&nbsp;Michael Shevell MD","doi":"10.1016/j.pediatrneurol.2025.08.008","DOIUrl":"10.1016/j.pediatrneurol.2025.08.008","url":null,"abstract":"<div><h3>Background</h3><div>Dyskinetic cerebral palsy (DCP) is a severe subtype of cerebral palsy in which children often present substantial functional impairment and multiple comorbidities. Our knowledge of the clinical picture of DCP is limited and our understanding of which markers best predict later impairment is scarce. This study aims to describe the presentation of DCP and examine the value of gestational age (GA) and magnetic resonance imaging (MRI) findings as early markers of eventual DCP prognosis.</div></div><div><h3>Methods</h3><div>Data from 170 children with DCP were extracted from the Canadian Cerebral Palsy Registry. Participants were classified as preterm or full-term and were divided into two groups based on MRI results: (1) normal/nonspecific, white matter injury, watershed injury, focal insult, malformation and (2) deep grey matter injury, and near total grey matter injury. Pearson Chi-square analyses were carried out to examine how DCP-associated risk factors and comorbidities vary with GA and MRI findings.</div></div><div><h3>Results</h3><div>Most children with DCP are born at term (69%), experience severe motor impairments (70% with Gross Motor Function Classification System and 73% with Manual Ability Classification System Levels IV-V), and present more than one comorbidity (46%). GA is associated with neonatal encephalopathy, hyperbilirubinemia, perinatal adversity, higher Manual Ability Classification System level, epilepsy and deafness (<em>P</em> &lt; 0.01, <em>P</em> = 0.04, <em>P</em> &lt; 0.01, <em>P</em> &lt; 0.01, respectively). MRI findings are associated with neonatal encephalopathy, and perinatal adversity (<em>P</em> = 0.003), but not motor and speech impairment or any of the DCP-associated comorbidities.</div></div><div><h3>Conclusions</h3><div>DCP is a severe form of CP affecting predominantly term-born infants. Relative to MRI findings, GA is a stronger predictor of eventual DCP prognosis.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 101-108"},"PeriodicalIF":2.1,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145004374","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":"Hematological Parameters at Birth Fail to Predict Intraventricular Hemorrhage in Very Preterm Infants","authors":"Mariana Costa-Marques MD ,&nbsp;Joana Pereira MD ,&nbsp;David Rabiço-Costa MD ,&nbsp;Cristina Ferreras MD ,&nbsp;Rita Magalhães Moita MD ,&nbsp;Filipa Flor-de-Lima MD ,&nbsp;Rúben Rocha PhD ,&nbsp;Gustavo Rocha MD","doi":"10.1016/j.pediatrneurol.2025.08.007","DOIUrl":"10.1016/j.pediatrneurol.2025.08.007","url":null,"abstract":"<div><h3>Background</h3><div>Recent studies demonstrated associations between hematological parameters and indices (HPI) obtained from full blood count (FBC) collected on the first day of life (D1) and the occurrence of intraventricular hemorrhage (IVH) in premature infants. Our objective was to evaluate the association between HPI obtained from the FBC of D1 and the occurrence of IVH in premature infants, to assess whether these can be used as prognostic markers.</div></div><div><h3>Methods</h3><div>This is a retrospective study, including preterm infants with gestational age below 30 weeks. A statistical analysis compared two groups of infants, with and without IVH.</div></div><div><h3>Results</h3><div>A total of 206 infants were included, 86 (41.7%) in the IVH group and 120 (58.3%) in the no-IVH group. The univariate analysis found that red blood cells (<em>P</em> = 0.018), hemoglobin (<em>P</em> &lt; 0.001), and hematocrit (<em>P</em> = 0.001) were significantly lower in the IVH group. Multivariate analysis by logistic regression adjusted to gestational age and birth weight revealed no significant associations between HPI of D1 and the occurrence of IVH. An analysis in the subgroup of patients with IVH-3 (severe IVH) did not reveal an association between HPI and IVH-3. An association between bronchopulmonary dysplasia and IVH (all grades) was found (<em>P</em> = 0.016).</div></div><div><h3>Conclusions</h3><div>Our results demonstrate that HPI from FBC collected on D1 are not associated with the occurrence of IVH and therefore cannot be used as predictors of IVH in extremely premature infants.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 86-93"},"PeriodicalIF":2.1,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144989228","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":"Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives","authors":"Myriam Boueri MD ,&nbsp;Allison Paltzer MS, CGC ,&nbsp;Erin Huggins MS, CGC ,&nbsp;Ellen Linebaugh MS, CGC ,&nbsp;Debera Zvejnieks MS, CGC ,&nbsp;Jessica Doxey MGC, CGC ,&nbsp;Gail Spiridigliozzi PhD ,&nbsp;Seung-Hye Jung PhD ,&nbsp;Priya S. Kishnani MD","doi":"10.1016/j.pediatrneurol.2025.08.003","DOIUrl":"10.1016/j.pediatrneurol.2025.08.003","url":null,"abstract":"<div><div>Pompe disease (PD), an autosomal recessive lysosomal disorder, results in glycogen accumulation in muscle cells, leading to progressive muscle weakness and respiratory insufficiency. Newborn screening (NBS) has improved outcomes for infantile-onset PD by enabling early diagnosis and intervention with enzyme replacement therapy. NBS also identifies late-onset PD (LOPD) cases, wherein children have a wide clinical spectrum and may remain asymptomatic for years, placing families in uncertainty as “patients-in-waiting.” This study explores parental experiences following an LOPD diagnosis through NBS to identify gaps in support systems and improve care delivery. Parents of 42 children diagnosed with LOPD through NBS completed a survey regarding their diagnostic experiences, care access, anxiety, and health care professionals’ (HCPs’) roles. Survey responses were analyzed using descriptive statistics, thematic analysis, and Kruskal-Wallis tests. Parents valued clear guidance and condition-specific information when receiving NBS results. However, many reported insufficient support and HCP's limited LOPD knowledge. About 70.7% experienced reduced anxiety following the LOPD diagnosis, attributed to increased knowledge, supportive health care teams, and their child's stable health, although uncertainty persisted. Among those who saw an HCP, 71.9% reported positive impacts, including improved understanding and mental health support, although 19% thought counseling or information provided lacked clarity or actionable resources. Timely communication with knowledgeable HCPs and multidisciplinary support can potentially reduce the psychosocial burden on families receiving positive NBS results. Efforts should prioritize creating more resources for HCPs and improving communication to ensure consistent compassionate care.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"172 ","pages":"Pages 94-100"},"PeriodicalIF":2.1,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144989237","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}