Pediatric neurology最新文献

{"title":"Living With Rett Syndrome: From Discovery to Clinical Advancements and Emerging Therapies","authors":"Sasha Taluri BS ,&nbsp;Alan K. Percy MD ,&nbsp;Amitha L. Ananth MD","doi":"10.1016/j.pediatrneurol.2025.10.021","DOIUrl":"10.1016/j.pediatrneurol.2025.10.021","url":null,"abstract":"<div><div>There has been remarkable progress made in the understanding of Rett syndrome, with only 57 years between the description of a phenotype and its first FDA-approved treatment. In this review, we will discuss this history and the genetics of Rett syndrome and examine the clinical features of the condition, with particular attention to the progression of symptoms over time. Genotype-phenotype correlations will be reviewed. Clinical management strategies, including specific symptom management and disease modifying therapy, will be discussed. The review will end with a brief discussion of current and future research directions.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 67-71"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145571170","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":"Letter to the Editor: Alice in Wonderland Syndrome in Children With Severe Acute Respiratory Syndrome SARS-CoV-2 Infection: A Case Series of Two Patients in an Italian Hospital","authors":"Alexis Demas MD (Doctor, Neurologist),&nbsp;Michèle Demas MD (Doctor, Retired Paediatrician)","doi":"10.1016/j.pediatrneurol.2025.11.024","DOIUrl":"10.1016/j.pediatrneurol.2025.11.024","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Page 229"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145786862","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":"Six-Minute Activity-95th Centile, a Novel Wearable-Derived Clinical Outcome Assessment for Duchenne Muscular Dystrophy","authors":"Nicholas Joy BS ,&nbsp;Jonathan Soslow MD, MSCI ,&nbsp;W. Bryan Burnette MD ,&nbsp;Andrew Liu PhD ,&nbsp;Christine C. Guo PhD ,&nbsp;Rakesh Pilkar PhD ,&nbsp;James C. Slaughter DrPH ,&nbsp;Meng Xu MS ,&nbsp;Kimberly Crum RN ,&nbsp;Karry Su BS ,&nbsp;Christopher Spurney MD ,&nbsp;Nazia Husain MBBS, MPH ,&nbsp;Katheryn Gambetta MD ,&nbsp;Brian D. Soriano MD ,&nbsp;Frank J. Raucci Jr. MD, PhD ,&nbsp;Kan Hor MD ,&nbsp;Larry W. Markham MD ,&nbsp;Jaclyn Tamaroff MD, MSCI","doi":"10.1016/j.pediatrneurol.2025.11.017","DOIUrl":"10.1016/j.pediatrneurol.2025.11.017","url":null,"abstract":"<div><h3>Background</h3><div>The six-minute walk test and quantitative muscle testing (QMT) are commonly used skeletal muscle assessments in Duchenne muscular dystrophy; however, they present challenges in nonambulatory patients. Our objective was to evaluate whether 6-min activity-95^th centile, a novel accelerometry metric capturing a participant's greatest amount of movement in six consecutive minutes, distinguished between ambulatory and nonambulatory individuals and correlated with QMT data.</div></div><div><h3>Methods</h3><div>Participants (N = 139) in an observational, longitudinal natural history study with median age of 12.0 years [interquartile range 10.0, 15.0] completed muscle testing and were instructed to wear an accelerometer on dominant wrist for 7 days and nights (a “wear”) at each of three annual study visits. One hundred two male participants were analyzed with a total of 184 valid wear periods.</div></div><div><h3>Results</h3><div>Six-minute activity centiles declined over 2 years (n = 28, <em>P</em> &lt; 0.001). No significant declines in centiles were detected immediately following loss of ambulation (n = 11). Significant correlations were observed between 6-min activity centiles and indexed QMT, with strongest at 95^th centile (r_s = 0.647, <em>P</em> &lt; 0.001). There was a relationship between 6-min centiles and time since loss of ambulation.</div></div><div><h3>Conclusions</h3><div>Ambulatory and nonambulatory patients with Duchenne muscular dystrophy were differentiated by 6-min activity and declined over time, modeling progression of skeletal myopathy. Six-minute activity-95^th centile has potential for future use as an effort-independent outcome of skeletal muscle progression and functional decline for both ambulatory and nonambulatory individuals.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 187-195"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145768778","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":"Repetitive Transcranial Magnetic Stimulation in Adolescents With Persistent Postconcussion Symptoms After Mild Traumatic Brain Injury: An Open Label Safety and Feasibility Study","authors":"Jacob Thorstensen PhD ,&nbsp;Heather Godfrey FNP, MNNP, BN, BSc ,&nbsp;Regan King MSc ,&nbsp;Ephrem Zewdie MD, PhD ,&nbsp;Adam Kirton MD, MSc ,&nbsp;Keith Owen Yeates PhD ,&nbsp;Frank MacMaster PhD ,&nbsp;Karen Barlow PhD, MSc, MBChB, MRCPCH","doi":"10.1016/j.pediatrneurol.2025.11.015","DOIUrl":"10.1016/j.pediatrneurol.2025.11.015","url":null,"abstract":"<div><h3>Background</h3><div>Although most children and adolescents with a mild traumatic brain injury recover quickly, a significant minority develop intractable headaches, cognitive difficulties, and/or mood disturbances known as persistent postconcussion symptoms (PPCS). Repetitive transcranial magnetic stimulation (rTMS) offers significant therapeutic potential in PPCS.</div></div><div><h3>Methods</h3><div>Fourteen adolescents (15.6 ± 1.5 years, 10 females) with PPCS ≥3 months postinjury (median: 4, 3-16 months) were recruited into an open label, single centre, safety/feasibility rTMS trial. Four weeks of once daily rTMS (20 visits, 10 Hz at 120% of resting motor threshold, 3000 stimulations per session) was applied to the left dorsolateral prefrontal cortex. Adverse events were monitored at every treatment. Additional outcomes included the Post-Concussion Symptom Inventory (PCSI) and Pediatric Quality of Life Inventory (PedsQL).</div></div><div><h3>Results</h3><div>No serious adverse events were observed. Headaches were the most frequent adverse event; but headaches tended to decrease in frequency over the treatment course. Twelve out of 14 participants attended 90% or more of the rTMS sessions. After 4 weeks of rTMS, PCSI total scores decreased from pre-rTMS values by 27.5 ± 20.9 points (<em>Z</em> = −3.3, <em>P</em> &lt; 0.001) and PedsQL total scores increased by 12 ± 12.6 points (<em>t</em>₁₃ = −3.5, <em>P</em> = 0.004). One-month post-rTMS, PedsQL scores were still increased but PCSI scores were not different from baseline.</div></div><div><h3>Conclusions</h3><div>High frequency rTMS to the left dorsolateral prefrontal cortex is safe/feasible for adolescents with PPCS. Results provide data to inform large randomized, sham-controlled trials to explore the efficacy of rTMS to treat pediatric PPCS.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 198-207"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145774810","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":"Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape","authors":"Ibrahim Elsharkawi MD ,&nbsp;Amy Goldstein MD ,&nbsp;Rebecca D. Ganetzky MD ,&nbsp;Eva Morava MD, PhD","doi":"10.1016/j.pediatrneurol.2025.11.019","DOIUrl":"10.1016/j.pediatrneurol.2025.11.019","url":null,"abstract":"<div><div>Primary mitochondrial diseases comprise a clinically, genetically, and biochemically heterogenous group of disorders associated with multisystemic involvement and significant morbidity and mortality of various etiologies. To date, no disease modifying therapies have been FDA approved, and treatment is largely symptomatic and supportive. Because of the rarity of mitochondrial specialists, most patients with mitochondrial diseases are cared for by clinicians without mitochondrial-specific expertise. Therefore, these clinicians by necessity rely on existing literature or older prognostic approaches which may be discordant with modern clinical practice and evolving therapeutic strategies and outcomes. Furthermore, existing literature may be skewed to the more severe end of the spectrum as publications may disproportionately focus on the most severe or unusual cases. Prognostic, therapeutic, and palliative discussions should ideally take place in a multidisciplinary setting where shared decision making can take place between the patient, family, and clinician team. Prognosis is increasingly shaped by the unprecedented development of various therapeutic modalities and personalized medicine. We aim to highlight the multipronged challenges and considerations faced in counseling patients and caregivers and draw from our own patient cohorts and observations in contemporary mitochondrial medicine to offer additional insights and future considerations for approaching patient counseling and prognostication.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 223-228"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145782391","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":"Tactile Hallucinations in Pediatric and Young Adults With Narcolepsy: A Case Series and Review of the Literature","authors":"Joel Willard MD ,&nbsp;David Velez MD ,&nbsp;Christian Suri Baez MD ,&nbsp;Christine Palladino NP ,&nbsp;Ivan Pavkovic MD ,&nbsp;Robin T. Varughese MD ,&nbsp;Sanjeev V. Kothare MD","doi":"10.1016/j.pediatrneurol.2025.11.009","DOIUrl":"10.1016/j.pediatrneurol.2025.11.009","url":null,"abstract":"<div><h3>Background</h3><div>To characterize the presentation and management of tactile hallucinations in pediatric and young adult patients with narcolepsy and explore the relationship between fragmented sleep, pharmacologic therapy, and psychiatric comorbidities.</div></div><div><h3>Methods</h3><div>We describe four cases (ages 9, 11, 26, and 42 years) of persistent and distressing tactile hallucinations out of 55 narcolepsy patients seen at our institution. We reviewed clinical presentation, polysomnography, multiple sleep latency tests, neuroimaging, and therapeutic responses.</div></div><div><h3>Results</h3><div>All patients exhibited excessive daytime sleepiness, and three had cataplexy. Cerebrospinal fluid orexin was low-normal in one patient. Polysomnography and multiple sleep latency tests supported the diagnosis of narcolepsy in all cases. All patients had tactile hallucinations characterized by formication and paresthesias and often exacerbated by oxybate therapy. Fragmented nocturnal sleep was common and was associated with increased hallucination severity. In one case, hallucinations contributed to suicidal ideation requiring inpatient care. Hallucinations persisted despite pharmacological adjustments, although behavioral adaptations (e.g., wearing loose clothing) and psychotherapy helped one patient. Literature review links fragmented sleep to heightened hallucinatory experiences, especially tactile forms. Oxybates, while effective for cataplexy, visual hallucinations, and daytime sleepiness, may potentiate psychotic symptoms, including tactile hallucinations.</div></div><div><h3>Conclusions</h3><div>Tactile hallucinations in narcolepsy may represent an under-recognized and distressing symptom. Fragmented sleep, rapid eye movement dysregulation, and pharmacologic side effects contribute to their emergence. Management requires a multidisciplinary approach integrating sleep medicine and psychiatry. Clinicians should consider hallucination profiles when titrating oxybates and explore adjunctive therapies for symptomatic relief.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 151-155"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145681768","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":"A Scoping Review of Transition to Adult Care in Pediatric-Onset Multiple Sclerosis: An Opportunity to Advance Research","authors":"Claudia Gambrah-Lyles MD ,&nbsp;Kelsey Barter MD ,&nbsp;Michelle Doering MLIS ,&nbsp;Soe Mar MD","doi":"10.1016/j.pediatrneurol.2025.11.013","DOIUrl":"10.1016/j.pediatrneurol.2025.11.013","url":null,"abstract":"<div><h3>Background</h3><div>Pediatric-onset multiple sclerosis (POMS) is a chronic, immune-mediated disease of the central nervous system that accounts for up to 10% of all multiple sclerosis cases. Compared to adult-onset multiple sclerosis, POMS follows a more aggressive course with frequent relapses and earlier disability milestones. A structured transition-to-adult care is critical for maintaining long-term health. While transition-to-adult care has been studied in children with other chronic conditions, there are few transition studies in POMS, leaving youth with POMS vulnerable to poor outcomes. This scoping review aims to synthesize the existing literature on transition-to-adult care in POMS within the broader context of chronic pediatric illness and identify gaps to guide future research.</div></div><div><h3>Methods</h3><div>We conducted a Preferred Reporting Items for Systematic Reviews and Meta-Analyses–guided scoping review in February 2025 across PubMed, Scopus, Ovid Medline, Web of Science, and Embase databases, using English-language filters. Two independent reviewers screened each record at the title/abstract and full-text stages.</div></div><div><h3>Results</h3><div>Of 96 articles meeting inclusion criteria, 12 specifically addressed POMS. A range of strategies for transition-to-adult care have been studied in other chronic pediatric conditions, but findings are limited by inconsistent definitions and lack of standardized outcome measures. The POMS-specific literature reveals specific barriers, such as cognitive impairment, fluctuating symptoms, and psychosocial complexity. As a whole, there is limited evidence on the efficacy of targeted interventions to support successful transition-to-adult care.</div></div><div><h3>Conclusions</h3><div>The evidence for beneficial interventions and strategies in transition-to-adult care in POMS is limited in quantity and scope. Targeted research is needed to develop and evaluate tailored strategies informed by general care plan frameworks and disease-specific needs.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 174-179"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145736544","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":"Counseling Reproductive-Age Youth With Epilepsy: Literature Review and Expert Opinion From the Epilepsy in the Child-Bearing Ages Through Menopause Consortium","authors":"Marie E. Clements MD ,&nbsp;Christina Briscoe MD, EdM ,&nbsp;Angela M. Curcio MD ,&nbsp;Laurie M. Douglass MD ,&nbsp;Janani Kassiri MD, PhD ,&nbsp;Lynn C. Liu MD, MS ,&nbsp;Sally V. Mathias MD ,&nbsp;Debra T. Moore-Hill MD, MPH ,&nbsp;Deepthi Nalluri MD ,&nbsp;Audrey Nath MD, PhD ,&nbsp;Amanda M. Romeu DO ,&nbsp;Tahniat Syed MD, MPH ,&nbsp;Victoria Vinarsky DO ,&nbsp;Susan Wiener MD, MPH ,&nbsp;Qian-Zhou JoJo Yang MD ,&nbsp;Sarah J. Betstadt MD, MPH ,&nbsp;Elizabeth I. Harrison MD, MS ,&nbsp;Neil Kulkarni MD ,&nbsp;Preeti Puntambekar MD ,&nbsp;Debopam Samanta MD, MS ,&nbsp;Laura Kirkpatrick MD","doi":"10.1016/j.pediatrneurol.2025.11.002","DOIUrl":"10.1016/j.pediatrneurol.2025.11.002","url":null,"abstract":"<div><div>Epilepsy in the Child-Bearing Ages through Menopause is an international consortium of clinicians dedicated to improving the health of women with epilepsy across the lifespan. Epilepsy in the Child-Bearing Ages through Menopause's Adolescent and Young Adult Committee addresses quality of care for female youth with epilepsy. The Committee developed a literature review and expert opinion guidance for child neurologists on performing optimal counseling about epilepsy and reproductive health for female youth with epilepsy. To do so, we identified and voted on key topics essential for this counseling, then conducted comprehensive literature reviews for each topic, iteratively developed key statements about counseling content and style for each topic and voted on final content for inclusion. The included topics were teratogenesis, folic acid supplementation, pregnancy and fertility, contraception, heritability of epilepsy, menstrual and hormonal disorders, catamenial epilepsy, and taking a sexual history. This review provides a clear, novel framework for pediatric neurologists to counsel adolescent and young adult women with epilepsy about their reproductive health, supporting improvement in practices recommended by professional organization such as the American Academy of Neurology and Child Neurology Foundation.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 90-101"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145616289","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":"Orthostatic Tachycardia in Children With and Without Persisting Post-concussion Symptoms Following Mild Traumatic Brain Injury: A Prospective Controlled Study","authors":"Athena Stein PhD, MPH ,&nbsp;Karen M. Barlow PhD, MSc, MBChB, MRCPCH","doi":"10.1016/j.pediatrneurol.2025.11.001","DOIUrl":"10.1016/j.pediatrneurol.2025.11.001","url":null,"abstract":"<div><h3>Background</h3><div>Twenty five percent of children who sustain a mild traumatic brain injury (mTBI) or concussion experience persisting post-concussion symptoms (PPCS). The symptoms of PPCS significantly overlap with postural orthostatic tachycardia syndrome (POTS). We aimed to review the literature and investigate the prevalence of POTS in children and adolescents recovering from mTBI.</div></div><div><h3>Methods</h3><div>This single centre controlled cross-sectional cohort study recruited children (aged 8-18 years inclusive) diagnosed with mTBI in the emergency department. At 4-6 weeks postinjury, children completed the Active Stand Test. The primary outcome was change in heart rate alongside clinical symptoms consistent with POTS.</div></div><div><h3>Results</h3><div>A total of 113 participants (64 PPCS, 24 mTBI with no clinical symptoms [asymptomatic], and 25 healthy controls) of similar age (mean 13.9 years) and sex (n = 55 [48.7%] male) underwent orthostatic testing. There were no significant group differences in heart rate or blood pressure at baseline, or within 10 minutes of standing. Three (4.8%) symptomatic participants satisfied POTS diagnostic criteria, compared to 0 asymptomatic and one (4.2%) control participant.</div></div><div><h3>Conclusions</h3><div>Using the Active Stand Test, a small proportion of children with PPCS satisfied clinical POTS criteria. Although it should be considered in the differential diagnosis, POTS is not common nor overrepresented in PPCS.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 72-80"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605627","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":"Survivorship in Child Neurology: A Transformative Era","authors":"Kuntal Sen MD,&nbsp;Aravindhan Veerapandiyan MD","doi":"10.1016/j.pediatrneurol.2025.11.021","DOIUrl":"10.1016/j.pediatrneurol.2025.11.021","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 196-197"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145768780","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}