Pediatric Neurology[JOURNAL]
Sun
200 papers
Behavioral and Emotional Challenges in Children With Spinal Muscular Atrophy.
Balaji L, Kariyawasam DS, Herbert K … +3 more , Sampaio HA, Tantsis E, Farrar MA
Pediatr Neurol · 2026 Feb · PMID 41289732 · Publisher ↗
BACKGROUND: The use of disease modifying therapies has altered the natural history of spinal muscular atrophy (SMA) leading to changing needs and recognition of multisystem involvement, including cognitive processes. We...
BACKGROUND: The use of disease modifying therapies has altered the natural history of spinal muscular atrophy (SMA) leading to changing needs and recognition of multisystem involvement, including cognitive processes. We aimed to investigate the prevalence of, and characterize the behavioral and emotional profiles of children/young people with symptomatic SMA. METHODS: This single-centre, cross-sectional study of children 4-17 years with symptomatic SMA, assessed emotional and behavioral problems using Strengths and Difficulties Questionnaire (SDQ). Clinical characteristics and parent- and child/young person-reported outcomes (Pediatric Quality of Life neuromuscular module) specific to a neuromuscular disorder were also collated. Fisher's exact, Kruskal-Wallis, and regression tests were used for analyses. RESULTS: Forty-eight children were enrolled (median age [interquartile range]: 7.8 years [5.4-11.4]). Total SDQ scores identified difficulties in 17/48 (35.4%) children with SMA, compared to population frequency of 10%; 16/4 8 (33.3%) parents perceived that their child's emotional/behavioral difficulties were burden on the family, which were chronic for 9/16 (56.3%) and substantial for 10/16 (62.5%), interfering with child's everyday life. Difficulties within at least one domain of the SDQ were identified in 29/48 (60.4%). Of the cohort, 12/48(25%) had difficulties in the domains of hyperactivity, emotional regulation and conduct. For those with abnormal SDQ scores, there was significant association with lower total Pediatric Quality of Life neuromuscular module scores (odds ratio: 1.09, 95% confidence intervals: 1.02, 1.16, P = 0.009). CONCLUSIONS: The study found clinically significant level of emotional and behavioral dysregulation in children/young people with SMA in all categories of motor function, and with negative impact on everyday life. In the context of changing phenotypes and function with treatment, these were evident across varying severities of motor function. These findings support routine mental health surveillance as a means of early identification and intervention, alongside the provision of psychological support to optimize health outcomes.
Orthostatic Tachycardia in Children With and Without Persisting Post-concussion Symptoms Following Mild Traumatic Brain Injury: A Prospective Controlled Study.
Stein A, Barlow KM
Pediatr Neurol · 2026 Feb · PMID 41289731 · Publisher ↗
BACKGROUND: 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 o...
BACKGROUND: 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. METHODS: 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. RESULTS: 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 zero asymptomatic and one (4.2%) control participant. CONCLUSIONS: 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.
Living With Rett Syndrome: From Discovery to Clinical Advancements and Emerging Therapies.
Taluri S, Percy AK, Ananth AL
Pediatr Neurol · 2026 Feb · PMID 41273856 · Publisher ↗
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...
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.
Mycoplasma Pneumoniae-Associated Arterial Ischemic Stroke in Pediatric Patients: Clinical Manifestations and Neuroimaging Findings.
Yu Z, Meng L, Jia J … +5 more , Zhang W, Xiong H, Fang F, Li J, Zhuo X
Pediatr Neurol · 2026 Feb · PMID 41273855 · Publisher ↗
BACKGROUND: Recently, mycoplasma pneumoniae pneumonia (MPP) has been prevalent among children in China. Literature on the clinical manifestations and neuroradiological findings in pediatric patients with MPP-associated a...
BACKGROUND: Recently, mycoplasma pneumoniae pneumonia (MPP) has been prevalent among children in China. Literature on the clinical manifestations and neuroradiological findings in pediatric patients with MPP-associated arterial ischemic stroke (AIS) is scarce. This study aimed to describe the clinical characteristics, laboratory and neuroimaging data on pediatric MPP-associated AIS. METHODS: This is a single-center retrospective cohort study (COIST study) conducted in Beijing Children's Hospital, consisting of 380 patients with first-ever, imaging-verified ischemic stroke between September 2015 and April 2024. Following rigorous diagnostic protocols, the underlying cause of AIS was definitively determined as mycoplasma pneumoniae infection in a subset of 14 children. A descriptive statistical approach was employed to encapsulate the clinical manifestations, laboratory findings, and neuroradiological characteristics observed in this cohort. The severity of stroke was systematically evaluated using the pediatric National Institutes of Health Stroke Scale, whereas the stroke outcome was assessed with a dual methodology: the pediatric stroke outcome measure and the modified Rankin Scales. RESULTS: A total of 14 children with MPP-associated AIS were enrolled, comprising 8 males (57.14%), with a median age of 6.70 years (interquartile range: 5.12-9.08 years). The incidence of AIS among all hospitalized MPP patients stood at 1.1‰, accounting for 3.68% of all childhood AISs. Notably 12 of the 14 patients exhibited severe MPP. Regarding cerebrospinal fluid analysis, the occurrence of pleocytosis was rarely noted, and the detection of antibodies to mycoplasma pneumoniae within the cerebrospinal fluid was equally rare. The primary neurological manifestations were hemiplegia and facial paralysis, both observed in 78.57% of patients (n = 11). In addition, disturbance of consciousness and aphasia were frequent symptoms, each present in 57.14% of cases (n = 8). Anterior circulation infarcts were the most prevalent, occurring in 78.57% of patients (n = 11), and vascular occlusion was noted in 9 of 14 patients (64.29%). Multiple infarctions were identified in 8 patients (57.14%), while 4 patients (28.57%) experienced bilateral infarctions. The middle cerebral artery was the most commonly affected vascular territory, affected in 50% of patients (n = 7), followed by the internal carotid artery and anterior cerebral artery, each affected in 21.43% of cases (n = 3). Hemorrhagic transformation occurred in half of the patients. Regarding treatment, 50% of patients (n = 7) received low molecular weight heparin (LMWH) monotherapy, while 2 patients were treated with both LMWH and aspirin, one with LMWH and dipyridamole, and one with aspirin monotherapy. Despite the onset-to-door time being mostly ≤6 hours, a poor outcome was experienced by 71.43% of patients, with a median pediatric National Institutes of Health Stroke Scale score of 7 at discharge (interquartile range: 2-10). CONCLUSIONS: MPP-associated AIS resulted in a poor outcome in our cohort. The frequent clinical symptoms included hemiplegic paralysis, somnolence, and aphasia. Despite timely awareness of MPP-associated stroke, current treatments (LMWH and oral aspirin) demonstrated limited efficacy.
Incorporating Measures of Cognitive Processing Speed and Brain Volume in Clinical Management of Pediatric Onset Multiple Sclerosis.
Sosa A, O'Neill KA, Billiet T … +7 more , Chen J, Couvreur L, Denissen S, Lustberg M, Pehel S, Ribbens A, Krupp L
Pediatr Neurol · 2026 Feb · PMID 41270335 · Publisher ↗
BACKGROUND: While cognitive processing and brain volume assessments are commonly used in multiple sclerosis (MS) research, they are not routinely incorporated into clinical care. Advances in neuroimaging software now all...
BACKGROUND: While cognitive processing and brain volume assessments are commonly used in multiple sclerosis (MS) research, they are not routinely incorporated into clinical care. Advances in neuroimaging software now allow for brain volume measurement to be incorporated into standard practice and guide clinical decision-making. METHODS: In this single-center, outpatient, cohort study, pediatric-onset multiple sclerosis (POMS) patients underwent at least two volumetric brain magnetic resonance imagings (MRIs) and two Symbol Digit Modalities Tests (SDMT) at least 6 months apart. Associations were analyzed using Pearson's correlation coefficient and linear regressions. RESULTS: Forty patients with POMS were included. The first volumetric brain MRI occurred at a median of 2.7 years after symptom onset. At the first volumetric MRI, 12% of patients had white matter brain volumes within 1% of normative values (n = 2000 healthy controls). Whole brain volume percentile (r = 0.4, P = 0.01), white matter percentile (r = 0.4, P = 0.01), and white matter lesion volume (r = -0.4, P = 0.005) were associated with SDMT score. Annualized percent brain volume change of the hippocampus (measured a median of 1.6 years apart) significantly correlated with follow-up SDMT (r = 0.4, P = 0.02), and annualized percent brain volume change of the thalamus correlated with annual change in SDMT z-score (r = 0.4, P = 0.009). CONCLUSIONS: Application of new software allows for volumetric assessment to be incorporated into clinical scans and provides clinicians with added data for patient management. This is critical for patients with POMS as the neurological examination often shows few to no abnormalities. Furthermore, a subset of POMS patients have smaller than expected brain volume which links to subsequent poorer cognitive performance.
Preliminary Outcomes of Central Responsive Neurostimulation for Multifocal Epilepsy in Pediatric Patients.
Bercu MM, Spykman KE, Johnson VM … +1 more , Hernandez AW
Pediatr Neurol · 2026 Feb · PMID 41270334 · Publisher ↗
BACKGROUND: Drug-resistant epilepsy (DRE) in the pediatric population is a challenging disease, with limited surgical interventions available. We report the preliminary outcomes for pediatric patients with multifocal DRE...
BACKGROUND: Drug-resistant epilepsy (DRE) in the pediatric population is a challenging disease, with limited surgical interventions available. We report the preliminary outcomes for pediatric patients with multifocal DRE epilepsy treated with centromedian responsive neurostimulation. METHODS: A retrospective chart review was conducted in 11 pediatric patients with multifocal epilepsy who were treated with bilateral responsive neurostimulation (RNS) of the centromedian nucleus. All patients were implanted with at least one RNS system; three patients had two RNS systems implanted, with additional leads targeting bilateral cortical or subcortical epileptogenic areas. RESULTS: Ten out of the 11 patients (90%) treated with RNS (ages 5-20 years old, average 13.73 years old, median 14 years old) were found to have at least a 50% reduction in seizures using at least two modalities of data analysis. The average follow-up time was 1.33 years. Upon reviewing the data from the electronic medical records, 6 patients (55%) experienced a reduction in seizures of 75% or higher, 4 patients (36%) experienced a reduction in seizures between 50 and 74% and 1 patient (9%) was nonresponsive. At least 8 patients (72%) experienced subjective improvements in behavior, interactions, and/or academic performance. This was most pronounced in the subgroup of 4 patients diagnosed with autism spectrum disorder. Ninety percent of patients and families reported improvements in quality of life secondary to neurostimulation. No surgical or stimulation-related complications or side effects were encountered. CONCLUSIONS: The preliminary outcomes suggest a robust response to central neurostimulation in pediatric patients suffering from multifocal DRE, with an excellent safety profile.
Beyond Anakinra and Tocilizumab: Additional Adjunctive Therapies in Pediatric New Onset Refractory Status Epilepticus and Febrile Infection-Related Epilepsy Syndrome - A Narrative Review.
Surí-Báez C, Kim HJ, Lester J … +2 more , Varughese RT, Kothare SV
Pediatr Neurol · 2026 Feb · PMID 41265024 · Publisher ↗
New onset refractory status epilepticus and febrile infection-related epilepsy syndrome are rare and devastating entities in the pediatric population. While no known therapies have formally been established as the "gold...
New onset refractory status epilepticus and febrile infection-related epilepsy syndrome are rare and devastating entities in the pediatric population. While no known therapies have formally been established as the "gold standard" for management of the acute phase, consensus guidelines do establish interleukin therapies such as anakinra and tocilizumab as safe and effective second-line immunotherapeutic options. Despite the use of interleukin therapies, many patients continue to have super refractory status epilepticus. A number of publications (mainly case reports and case series) have described various adjunctive therapies in the management of new onset refractory status epilepticus/febrile infection-related epilepsy syndrome, including neuromodulatory therapies (such as vagal nerve stimulation, deep brain stimulation, and electroconvulsive therapy), surgical resection, noninterleukin immunotherapies (such as intrathecal dexamethasone, intravenous rituximab, and cyclophosphamide), infusions (such as lidocaine and magnesium), and anesthetic agents (such as sevoflurane). Utilizing a modified Preferred Reporting Items for Systematic reviews and Meta-Analyses approach, this narrative review summarizes the effectiveness and safety of second-line immunotherapies such as tocilizumab and anakinra, as well as the various adjunctive third-line therapies that aim to abort seizures and mitigate comorbidities within an intensive care setting, such as prolonged sedation and secondary systemic complications.
Blood Pressure Management and Postoperative Stroke Risk in Pediatric Moyamoya Disease.
Pal R, Cheronis C, Mayne E … +2 more , Steinberg GK, Lee S
Pediatr Neurol · 2026 Feb · PMID 41265023 · Publisher ↗
BACKGROUND: To assess variability in postoperative blood pressure management and its association with stroke incidence in pediatric Moyamoya disease (MMD) patients undergoing surgical revascularization. METHODS: This ret...
BACKGROUND: To assess variability in postoperative blood pressure management and its association with stroke incidence in pediatric Moyamoya disease (MMD) patients undergoing surgical revascularization. METHODS: This retrospective cohort study was conducted at Stanford University Medical Center from 1992 to 2023. It included 109 pediatric MMD patients (≤18 years) who underwent revascularization surgery. This study evaluated outpatient systolic blood pressures, inpatient mean arterial pressure targets, and the use of vasoactive medications. RESULTS: Postoperative blood pressure management varied significantly based on patient age, syndrome group, and preoperative stroke status. There was no correlation between preoperative systolic blood pressure and postoperative blood pressure targets. Vasoactive medications were used in 55% of patients intravenously and 53% orally, often for extended durations, but without a clear association with transient neurological symptoms. Major strokes occurred in 6.4% of patients, primarily within the first postoperative week. Stroke incidence was associated with longer durations of vasoactive therapy (IV: 3.0 vs 0.0 days, P = 0.026; oral: 53.0 vs 0.0 days, P = 0.035), but not with specific blood pressure targets. CONCLUSIONS: There is significant variability in postoperative blood pressure management in pediatric MMD, reflecting the absence of standardized guidelines. The increased risk of stroke during the first postoperative week, particularly among patients receiving prolonged vasoactive therapy, underscores the need for prospective studies to establish individualized hemodynamic targets and reduce practice variability.
Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
Miller JS, Farmer C, Blair S … +43 more , Bianconi S, Akshoomoff N, Anselm I, Barshop BA, Becker L, Bennett AE, Berry LN, Berry-Kravis EM, Bruchey A, Byars AW, Cimms T, Cecil KM, Covello M, Cubit LS, Das T, Davis RJ, Drye M, Ficicioglu C, Fulton JB, Goin-Kochel RP, Guthrie W, Hallinan BE, Hannah-Shmouni F, Gustafson KE, Koeberl DD, Longo N, Mamak E, Mercimek-Andrews S, Michalak C, Porter FD, Rahhal S, Rees L, Spiridigliozzi GA, Stone C, Sullivan NR, Sutton VR, Thomas RP, Udhnani M, Waisbren S, Xu M, Zhang L, Brandabur M, Thurm A
Pediatr Neurol · 2026 Feb · PMID 41260060 · Full text
BACKGROUND: The purpose of the Vigilan observational study (ClinicalTrials.gov, NCT02931682) was to prospectively assess the natural history and developmental course of creatine transporter deficiency (CTD). METHODS: Mal...
BACKGROUND: The purpose of the Vigilan observational study (ClinicalTrials.gov, NCT02931682) was to prospectively assess the natural history and developmental course of creatine transporter deficiency (CTD). METHODS: Males with CTD aged 6 months to 65 years were evaluated at 6-month intervals for up to 4 years. Evaluations included neurodevelopmental assessments of intellectual functioning, adaptive functioning, challenging behaviors and the onset and progression of medical comorbidities. RESULTS: Fifty participants (median age, 7.6 years) were enrolled. The predominant CTD phenotype consisted of significant intellectual disabilities and limited skill development over time. Most participants had a history of febrile or nonfebrile seizures, gastrointestinal symptoms, and growth failure. All participants learned how to walk, 78% developed at least some verbal speech, and 34% communicated using phrases or sentences. Norm-referenced neurodevelopment assessments indicated declining standardized scores over time; however, absolute scores (i.e., age equivalent person ability scores) indicated that developmental gains were slower than average, particularly among older participants. Between-person differences in neurodevelopmental skills as a function of age did not match within-person change, suggesting a cohort effect. CONCLUSIONS: In this cohort, CTD was associated with significant and persistent intellectual disability. The use of absolute metrics from neurodevelopmental tests (e.g., person ability scores) allowed for the quantification of slow, but present, skill development.
Predictors of Drug-Resistant Epilepsy After Perinatal Stroke.
Fisher M, Bolte K, Reddy SB … +2 more , Rodeghier M, Jordan LC
Pediatr Neurol · 2026 Feb · PMID 41260059 · Full text
BACKGROUND: To identify predictors of drug-resistant epilepsy (DRE) in children with a history of perinatal ischemic stroke (PIS). METHODS: This single-center retrospective observational study analyzed children with PIS...
BACKGROUND: To identify predictors of drug-resistant epilepsy (DRE) in children with a history of perinatal ischemic stroke (PIS). METHODS: This single-center retrospective observational study analyzed children with PIS using international classification of diseases, ninth revision (ICD-9) codes, institutional databases, medical records, and neuroimaging from 2012 to 2023. DRE was defined as seizures unresponsive to ≥2 antiseizure medications. The Pediatric Stroke Outcome Measure (PSOM) was retrospectively scored. RESULTS: Of 96 children with PIS, 56% developed epilepsy and 20 (21%) had DRE. Median age at the last visit was 7.9 years (interquartile range, 3.1-11.7 years.) Among those with DRE, 70% had presumed perinatal stroke and 30% had symptomatic neonatal stroke. PSOM scores differed by epilepsy status: median PSOM was 2.5 for DRE, 1.8 for non-DRE epilepsy and 1.0 for children without epilepsy; paired comparisons for neurological outcome found a difference between those with DRE compared to those without epilepsy (P < 0.001). Hippocampal volume reduction was the only predictor of DRE (odds ratio 6.45, 95% confidence interval 1.80-23.16, P = 0.004) in a multivariable model including sex, neonatal seizures, and total PSOM. Children with DRE tried a median of four antiseizure medications after the newborn period, and 13 (65%) underwent epilepsy surgery. Favorable outcomes (seizure-free or >90% reduction) were seen in 62% postsurgery, including three focal resections, four functional hemispherectomies, and one posterior quadrant disconnection. CONCLUSIONS: Hippocampal volume reduction is a strong predictor of DRE following PIS. Epilepsy and DRE were more common in older children. Hemispherectomy and focal resections were associated with favorable seizure outcomes.
Friedreich Ataxia.
Subramony SH, Lynch DR
Pediatr Neurol · 2026 Jan · PMID 41252802 · Publisher ↗
With the introduction of potential new therapy for Friedreich ataxia, the disorder has taken on a new importance in the world of pediatric neurology. Originally described more than 150 years ago, large scale clinical stu...
With the introduction of potential new therapy for Friedreich ataxia, the disorder has taken on a new importance in the world of pediatric neurology. Originally described more than 150 years ago, large scale clinical studies have defined diagnostic criteria and the underlying mutation as a biallelic, unstable expansion of an intronic guanine adenine adenine repeat in chromosome 9. In this review, we summarize the clinical features, routine management, pathophysiology, and emerging therapies for this devastating disease. The recent approval of omaveloxolone makes recognition of Friedreich ataxia and its treatment essential for all pediatric neurologists.
Impacts of a Novel Pediatric Neuropalliative Medicine Clinic: Characterization of Referrer Feedback.
Lin GL, Treat L
Pediatr Neurol · 2026 Jan · PMID 41240455 · Publisher ↗
BACKGROUND: Child neurologists provide care for children with complex chronic health conditions often accompanied by logistical and emotional complexities, as well as acute decision-making scenarios. Pediatric neuropalli...
BACKGROUND: Child neurologists provide care for children with complex chronic health conditions often accompanied by logistical and emotional complexities, as well as acute decision-making scenarios. Pediatric neuropalliative medicine is a nascent subspecialty that aims to augment standard child neurology practice by attending to not only the physical domains of neurologic disease but also the nonphysical issues that accompany advancing illness. The perceptions of clinicians who refer families for this kind of care have not previously been elucidated. METHODS: This survey project queried referrers to a newly established pediatric neuropalliative medicine clinic to characterize their perceptions, including barriers and facilitators of referral and the impact of this service line on clinicians. Specifically, the authors sought to understand whether neurologists viewed this clinic differently than other referring clinicians. RESULTS: A total of 94 surveys were completed, with 22% (n = 21) of respondents being neurology clinicians and 78% (n = 73) representing other pediatric specialties. Neurology clinicians were significantly more likely to report a preference for a neurologist in the palliative medicine role (76% of neurologists vs 16% of non-neurologists, P < 0.001). While all referrers identified at least one benefit of referral to this clinic, neurologists were more likely to report that this new resource positively impacted their understanding of palliative medicine and their ability to devote more energy to their area of focus. CONCLUSIONS: Pediatric neuropalliative expertise is valued by referring clinicians, with the greatest impact described by neurologists. Referrers noted benefit to patient care as well as enhancement in professional domains.
Prepandemic and Postpandemic: How COVID-19 Pandemic Affected Depression Symptoms in Youth With Epilepsy and Other Neurological Conditions.
Vipparla R, Storch B, Penido de Paula V … +2 more , Makhani N, Vassilopoulos A
Pediatr Neurol · 2026 Jan · PMID 41232490 · Publisher ↗
BACKGROUND: Children and adolescents with neurological diagnoses are more susceptible to experiencing depressive symptoms than their healthy peers. Research to date has found an increase in depressive symptoms among yout...
BACKGROUND: Children and adolescents with neurological diagnoses are more susceptible to experiencing depressive symptoms than their healthy peers. Research to date has found an increase in depressive symptoms among youth during the COVID-19 pandemic, but the impact on youth with neurological conditions has not been directly evaluated. METHODS: This study utilized retrospective data from individuals (n = 1,312) aged 12-21 years to evaluate changes in self-reported depressive symptoms on the Patient Health Questionnaire (Patient Health Questionnaire 2-item and Patient Health Questionnaire 9-item [PHQ-9]) before and after the onset of the COVID-19 pandemic (between March 2018 and March 2022). RESULTS: The total sample did not exhibit significant differences in depression scores across Patient Health Questionnaire 2-item and PHQ-9 prepandemic and postpandemic onset. However, a significant difference in nonzero PHQ-9 scores was observed in pediatric patients with epilepsy, indicating a shift from minimal to mild depressive symptoms from prepandemic (Mean = 1.69) to postpandemic (Mean = 6.09) onset (P = 0.040). Additional subgroups, including those with neurodevelopmental, psychological, and chronic pain conditions, displayed notable increases in symptom severity based on nonzero scores. CONCLUSIONS: The findings in this study emphasize the need for increased mental health support within pediatric neurology, with a focus on patients with epilepsy. This future research will help attend to and prevent challenges faced by this group of patients when presented with future environmental and social disruptions analogous to the pandemics.
Clinical Profile of Pediatric Neurological Disorders at the Douala Gyneco-Obstetric and Pediatric Hospital in Cameroon.
Enyama D, Njinkui DN, Kengni Tefeu MF … +4 more , Kouam JM, Kago Tague DA, Sime Tchouamo AA, Nguefack S
Pediatr Neurol · 2026 Jan · PMID 41232489 · Publisher ↗
BACKGROUND: Neurological conditions account for more than 20% of disease-related morbidity worldwide. Many of those affected by neurological conditions live in Africa, but there are limited descriptions of their prevalen...
BACKGROUND: Neurological conditions account for more than 20% of disease-related morbidity worldwide. Many of those affected by neurological conditions live in Africa, but there are limited descriptions of their prevalence. METHODS: We conducted a descriptive study of all patients aged 3 months to 18 years who were evaluated in the pediatric neurology clinic between January 2020 and December 2023. The data, collected by review of the patients' medical records by the principal investigator, included age, gender, medical history, examination findings, diagnosis, and treatment. Data were analyzed with the Statistical Package for Social Sciences (version 21) software using descriptive statistics. RESULTS: During the study period, 4,130 patients had pediatric consultations at Douala Gyneco-Obstetric and Pediatric Hospital, of which 1,111 (26.9%) were seen in the pediatric neurology clinic for evaluation of pediatric neurological disorders. A total of 854 patients met our inclusion criteria and were included in the study. The most common conditions were epilepsy (43.4%), cerebral palsy (31.3%), and autism spectrum disorders (13.9%). Regarding the therapeutic itinerary, most patients opted first for traditional practitioners (49.6%), while a smaller proportion (34.2%) chose conventional medicine as the first treatment option. CONCLUSIONS: Pediatric neurological disorders account for a quarter of pediatric consultations at the Douala Gyneco-Obstetric and Pediatric Hospital, with the most common diagnoses being epilepsy and cerebral palsy. This may help in defining priorities, especially as far as rehabilitation, training and resources allocation are concerned.
Tasks for Assessing Dystonia in Young People With Cerebral Palsy.
Lott E, Rust A, Dure L … +5 more , Fehlings D, Pearson T, Pons R, Mink JW, Aravamuthan BR
Pediatr Neurol · 2026 Jan · PMID 41223735 · Publisher ↗
BACKGROUND: Dystonia in childhood is typically associated with cerebral palsy (CP). Dystonia severity scales for CP require prolonged exam protocols with numerous tasks, often making them onerous for routine clinical use...
BACKGROUND: Dystonia in childhood is typically associated with cerebral palsy (CP). Dystonia severity scales for CP require prolonged exam protocols with numerous tasks, often making them onerous for routine clinical use. We aimed to identify which individual tasks best approximate dystonia severity compared to the gold standard full protocol. METHODS: In this cross-sectional study, comprehensive exam protocol videos were taken during routine care of ambulatory people with CP age 5 years and up. Five pediatric dystonia experts reviewed individual tasks and the full protocol for dystonia using the Global Dystonia Severity Rating Scale. Experts' written scoring justifications were qualitatively analyzed to determine commonly cited features of dystonia. RESULTS: When examining the difference in dystonia severity ratings between each task and the full protocol, seated upper extremity tasks had the lowest variance (P < 0.05, F-test) and had lower score differences than the stand/walk/run and seated lower extremity tasks (P < 0.05, repeated measures Friedman test). Experts most commonly identified the following movements as dystonic: wrist flexion (8.4% of all movement statements), finger flexion (7.3%), wrist ulnar deviation (6.8%), toe dorsiflexion (8.4%), ankle inversion (7.9%), and ankle plantarflexion (6.4%). Experts rated dystonic movements as more severe if they were consistently triggered by multiple stimuli (26.8% of all severity statements) or functionally impactful (20.7%). CONCLUSIONS: Seated upper extremity tasks may be valuable for identifying dystonia and estimating its severity during routine clinical care. Clinical dystonia severity assessment could be guided by assessing specific dystonic movements, the consistency with which they are triggered, and their functional impact.
First Line Management of Pediatric Status Epilepticus.
Gettings JV
Pediatr Neurol · 2026 Jan · PMID 41223734 · Publisher ↗
Abstract loading — click title to view on PubMed.
Unravelling the Inflammatory and Metabolic Insights in Subacute Sclerosing Panencephalitis: A Prospective Multimodal Evaluation.
Jauhari P, Ojha S, Tripathi M … +8 more , Singh L, Bharadiya V, Gupta A, Berry P, Kaur G, Kumar A, Upadhyay A, Gulati S
Pediatr Neurol · 2026 Jan · PMID 41218354 · Publisher ↗
BACKGROUND: This study discusses results of multimodal evaluation of biomarkers of neuroinflammation and neurodegeneration in cerebrospinal fluid (CSF) and Fluorodeoxyglucose-positron emission tomography (18F-FDG-PET) fi...
BACKGROUND: This study discusses results of multimodal evaluation of biomarkers of neuroinflammation and neurodegeneration in cerebrospinal fluid (CSF) and Fluorodeoxyglucose-positron emission tomography (18F-FDG-PET) findings in Subacute sclerosing panencephalitis (SSPE). METHODS: Consecutive children (3-14 years) with SSPE fulfilling the Dyken criteria during the study period (2020-2022) were enrolled. Clinical profile, radiological and electroencephalography data were chronicled. CSF interleukins (ILs) IL-4, IL-6, and IL-10; interferon-gamma; and neurofilament heavy chain (NFH) levels were analysed and compared with age matched pseudo-controls. 18F-FDG-PET imaging was performed in a subset of children who consented for the same. RESULTS: Thirty-three children with SSPE were enrolled [mean age 8.06 ± 2.67 years; males: 82%; Jabbour Stage I-6%, Stage II-67%, Stage III-27%]. Two forms of presentation were seen: short/absent stage I with early onset myoclonic jerks (N = 22; mean age of onset 7.85 ± 2.45) and prolonged stage I with late onset epilepsy (N = 11; mean age 6 ± 1.9 years, P = 0.03). CSF NFH was significantly elevated in SSPE [132.62 (53.6-388.9) vs 0.0 (0-16.9) pg/ml; P = 0.0001] compared to the pseudo-controls. CSF IL-6 (pg/ml) in 21/22 SSPE [1.72 (0.85-3.04)] children and 16/17 pseudo-controls [2.60 (1.72-3.83); P = 0.17] were similar. IL-4, IL-10, and interferon-gammas were undetectable in both the groups. 18F-FDG-PET showed putaminal hypermetabolism in 7/9 (78%) and thalamo-cerebellar hypometabolism in 8/9 (88%) with variable foci of cortical hypometabolism. CONCLUSIONS: Elevated CSF NFH levels suggest ongoing neuronal loss in SSPE. Cell mediated immunity is altered, and active neuroinflammation (T-cell mediated) may not be contributing to the ongoing neurodegeneration. 18F-FDG-PET imaging consistently reveals putaminal hypermetabolism alongside thalamo-cerebellar hypometabolism, which may prove valuable in diagnosing challenging SSPE cases.
Current State of the Global Pediatric Stroke Care-Results From the Global Alliance for Pediatric Stroke Epidemiology and Resources Survey.
Kopyta I, Parakh M, deVeber G … +10 more , Zuñiga Z YC, Rios Pistoia MF, O'Connor K, Balut FP, Wilson J, Tan M, Schenk A, Rodak P, Meena AK, Das S
Pediatr Neurol · 2026 Jan · PMID 41205260 · Publisher ↗
BACKGROUND: Pediatric stroke care varies across institutions, but global differences have not been explored. Our objective was to evaluate global variability and challenges in pediatric stroke care. METHODS: The Global A...
BACKGROUND: Pediatric stroke care varies across institutions, but global differences have not been explored. Our objective was to evaluate global variability and challenges in pediatric stroke care. METHODS: The Global Alliance for Pediatric Stroke Epidemiology and Resources Working Group of the International Pediatric Stroke Organization distributed a 43-question online survey to international child neurology organizations. RESULTS: A total of 135 responses were received, from Europe, North America, and Australia (n = 66), South America (n = 27) and Asia and Africa (AA; n = 42). Respondents were mainly pediatric neurologists from quaternary/tertiary teaching hospitals (>90%) and worked in urban areas (85%-90%) or large cities (40%-60%). Outside of Asia, women comprised 70% of the respondents, whereas males made up the majority in Asia. Globally, pediatric neurologists manage emergency room triage and inpatient treatment stroke in most facilities (65%-68%). Experienced (>20 years) pediatric stroke subspecialists were available in a minority of centers (7%-17%). Multidisciplinary teams and institutional algorithms were more common in Europe and the Americas compared to Asia (53% vs 7-11% and 80-85% vs 20%, respectively). Reduced awareness of pediatric stroke was identified as a reason for the delay in seeking care in Europe, North America, and Australia by caregivers (44%) and health providers (38%), while in AA it was 67% and 58%. CONCLUSIONS: Across all regions, significant challenges in pediatric stroke management exist. Serious gaps exist in Asia related to personnel, expertise, and infrastructure. Development and improvement of local policies and resources are urgently needed in AA to improve pediatric stroke outcomes.
Powassan Encephalitis: A Unique Endophenotype in 2 Cases.
Hauptman AJ, Wilson-Murphy M, Powers JH … +1 more , Katz T
Pediatr Neurol · 2026 Jan · PMID 41202410 · Publisher ↗
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Infants and Toddlers With Moderate-To-Severe Cerebral Palsy Receive Very Low Doses of In-Person Rehabilitation.
Bican R, Heathcock J
Pediatr Neurol · 2026 Jan · PMID 41202409 · Publisher ↗
BACKGROUND: Dose of rehabilitation services is important for optimizing developmental outcomes for children with cerebral palsy (CP). However, little is known about how much in-person rehabilitation infants and toddlers...
BACKGROUND: Dose of rehabilitation services is important for optimizing developmental outcomes for children with cerebral palsy (CP). However, little is known about how much in-person rehabilitation infants and toddlers with CP currently receive, and how dose relates to function. The purpose of this study is to describe the dose of in-person rehabilitation services received by infants and toddlers with CP and to evaluate the relationship between physical therapy (PT) dose, age, and gross motor function. METHODS: We enrolled 53 participants (6 months-2 years old) with moderate-to-severe CP, defined as Gross Motor Function Classification System levels III-V. Parent-reported data on outpatient and early intervention PT, occupational therapy, and speech-language pathology services over the past 6 months were used to calculate monthly service dose. The Gross Motor Function Measure, 88-item was administered to quantify motor function. RESULTS: Participants received very low doses of therapy across disciplines. The mean total hours of rehabilitation services the participants received were between 0.4 and 3.0 hours per discipline per month. Combined in-person services averaged less than 9 total hours per month. There was no relationship found between the total hours of PT the child received and their age (P = 0.27, F = 1.22) or gross motor function (as measured by the Gross Motor Function Measure, 88-item) (P = 0.82, F = 0.05). CONCLUSIONS: Infants and toddlers with moderate-to-severe CP receive low doses of in-person rehabilitation, and the dose of PT does not appear to be individualized based on age or functional severity. These findings suggest a need for more tailored, intensive, and family-centered rehabilitation planning in early childhood.
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