FLAIR Hyperintense Cortical Lesions in a 4-Year-Old Child with Myelin Oligodendrocyte Glycoprotein (MOG)-Associated Encephalitis and Seizures: A Case Report.

Myelin oligodendrocyte glycoprotein (MOG)-IgG-associated disease (MOGAD) is a relatively uncommon autoantibody demyelinating disorder of the central nervous system (CNS) with heterogeneous clinical manifestations and magnetic resonance imaging (MRI) findings. In recent years, a rare MOGAD subtype characterized by distinct clinical and MRI findings has been described. Seizures and cortical hyperintensities best seen on MRI T2-weighted fluid-attenuated inversion recovery (FLAIR) sequences, associated with headache and cerebral spine fluid (CSF) pleocytosis, are the most important characteristics of this MOGAD entity that is named FLAMES (FLAIR hyperintense cortical lesions in MOG-associated encephalitis with seizures). Because of its rarity and the peculiarities of the brain damage and clinical manifestations, it can be under-recognized and confused with focal viral encephalitis, meningitis, subarachnoid hemorrhage, CNS vasculitis, or mitochondrial cytopathy. We described the case of a 4-year-old previously healthy girl who was admitted for focal-onset, tonic-clonic seizures, fever, and headache, combined with optic neuritis. MRI was characterized by FLAIR imaging showing hyperintense cortical lesions, and a mild leukocytosis in the CSF was detected. Efficacy and rapid response to steroid therapy was observed, and no recurrences of neurological problems or further seizures were reported in the following 12 months. This case report can help in understanding FLAMES characteristics in pediatrics in order to favor early diagnosis and prompt therapy.

Hjernetegn.dk-The Danish Central Nervous System Tumor Awareness Initiative Digital Decision Support Tool: Design and Implementation Report.

BACKGROUND: Childhood tumors in the central nervous system (CNS) have longer diagnostic delays than other pediatric tumors. Vague presenting symptoms pose a challenge in the diagnostic process; it has been indicated that patients and parents may be hesitant to seek help, and health care professionals (HCPs) may lack awareness and knowledge about clinical presentation. To raise awareness among HCPs, the Danish CNS tumor awareness initiative hjernetegn.dk was launched. OBJECTIVE: This study aims to present the learnings from designing and implementing a decision support tool for HCPs to reduce diagnostic delay in childhood CNS tumors. The aims also include decisions regarding strategies for dissemination and use of social media, and an evaluation of the digital impact 6 months after launch. METHODS: The phases of developing and implementing the tool include participatory co-creation workshops, designing the website and digital platforms, and implementing a press and media strategy. The digital impact of hjernetegn.dk was evaluated through website analytics and social media engagement. IMPLEMENTATION (RESULTS): hjernetegn.dk was launched in August 2023. The results after 6 months exceeded key performance indicators. The analysis showed a high number of website visitors and engagement, with a plateau reached 3 months after the initial launch. The LinkedIn campaign and Google Search strategy also generated a high number of impressions and clicks. CONCLUSIONS: The findings suggest that the initiative has been successfully integrated, raising awareness and providing a valuable tool for HCPs in diagnosing childhood CNS tumors. The study highlights the importance of interdisciplinary collaboration, co-creation, and ongoing community management, as well as broad dissemination strategies when introducing a digital support tool.

Malingering in Adolescent Psychiatry: A Case Report of Fabricated Symptoms to Avoid Legal Consequences.

Malingering is characterized by the deliberate fabrication and/or exaggeration of symptoms for secondary gain, posing a diagnostic challenge in healthcare settings. In this report, we present a 15-year-old male with a history of psychiatric disorders who attempted suicide to avoid legal sentencing, subsequently developing a stutter following an altercation with another patient. Despite initial concern for a concussion, further evaluation revealed malingering as the underlying motive. This case highlights the importance of identifying malingering in adolescents, which calls for a careful approach and thorough assessment for it to be distinguished from an authentic illness. Early identification of malingering optimizes resource allocation and ensures appropriate care for patients who have genuine medical needs.

Epileptic seizures as an initial symptom for Sturge­Weber syndrome type III: A report of two cases.

Sturge-Weber syndrome (SWS) type III, a rare neurocutaneous disorder, presents diagnostic challenges due to its variable clinical manifestations. The present study focuses on enhancing the understanding of this syndrome by conducting a detailed analysis of two pediatric cases and providing a comprehensive review of the existing literature. The cases, managed at the Children's Hospital Affiliated to Shandong University (Jinan, China), highlight the diverse clinical presentations and successful management strategies for SWS type III. In the first case, a 4-year-old male patient exhibited paroxysmal hemiplegia, epileptic seizures and cerebral angiographic findings indicative of left pia mater and venous malformation. The second case involved a 2.5-year-old male patient presenting with recurrent seizures and angiographic findings on the right side. Both cases underscore the importance of considering epileptic seizures, acquired and transient hemiplegia and cognitive impairments in the diagnosis of SWS type III. The present study provides insights into the effective use of both pharmacological and surgical interventions, drawing from the positive outcomes observed in these cases. The findings emphasize the need for heightened awareness and a meticulous approach in diagnosing and treating SWS type III, contributing to the better management and prognosis of this condition.

Transcranial photobiomodulation in children aged 2-6 years: a randomized sham-controlled clinical trial assessing safety, efficacy, and impact on autism spectrum disorder symptoms and brain electrophysiology.

Background: Small pilot studies have suggested that transcranial photobiomodulation (tPBM) could help reduce symptoms of neurological conditions, such as depression, traumatic brain injury, and autism spectrum disorder (ASD). Objective: To examine the impact of tPBM on the symptoms of ASD in children aged two to six years. Method: We conducted a randomized, sham-controlled clinical trial involving thirty children aged two to six years with a prior diagnosis of ASD. We delivered pulses of near-infrared light (40 Hz, 850 nm) noninvasively to selected brain areas twice a week for eight weeks, using an investigational medical device designed for this purpose (Cognilum™, JelikaLite Corp., New York, United States). We used the Childhood Autism Rating Scale (CARS, 2nd Edition) to assess and compare the ASD symptoms of participants before and after the treatment course. We collected electroencephalogram (EEG) data during each session from those participants who tolerated wearing the EEG cap. Results: The difference in the change in CARS scores between the two groups was 7.23 (95% CI 2.357 to 12.107, p = 0.011). Seventeen of the thirty participants completed at least two EEGs and time-dependent trends were detected. In addition, an interaction between Active versus Sham and Scaled Time was observed in delta power (Coefficient = 7.521, 95% CI -0.517 to 15.559, p = 0.07) and theta power (Coefficient = -8.287, 95% CI -17.199 to 0.626, p = 0.07), indicating a potential trend towards a greater reduction in delta power and an increase in theta power over time with treatment in the Active group, compared to the Sham group. Furthermore, there was a significant difference in the condition (Treatment vs. Sham) in the power of theta waves (net_theta) (Coefficient = 9.547, 95% CI 0.027 to 19.067, p = 0.049). No moderate or severe side effects or adverse effects were reported or observed during the trial. Conclusion: These results indicate that tPBM may be a safe and effective treatment for ASD and should be studied in more depth in larger studies.Clinical trial registration: https://clinicaltrials.gov/ct2/show/NCT04660552, identifier NCT04660552.

Sociocultural Factors Influence on Burden and Stress of Caregivers of Children with Epilepsy.

We evaluated stress and burden in epilepsy patient caregivers in a pediatric neurology clinic. Caregivers of 102 children with epilepsy completed the Caregivers' Assessment of Difficulty Index and a questionnaire regarding caregiver sociocultural characteristics. A multiple linear regression statistical analysis found that caregiver burden was significantly increased for those who had a second child with a chronic disease, sole caregivers and for those with children with drug-resistant epilepsy. Caregiver stress was significantly increased for caregivers with a native language other than English or French, caregivers who had a second child with a chronic disease and sole caregivers.

Febrile Seizures: A Systematic Review of Different Guidelines.

BACKGROUND: Febrile seizures (FS) are the most common neurological disorder in pediatric age. FS affect 2% to 12% of children and result from a complex interplay of genetic and environmental factors. Effective management and unambiguous recommendations are crucial for allocating health care resources efficiently and ensuring cost-effectiveness in treating FS. METHODS: This systematic review compares existing guidelines to provide insights into FS management. Seven guidelines published between 1991 and 2021, from Japan, United Kingdom, United States, Mexico, India, and Italy, were included. Data extraction covered definitions, diagnostic criteria, hospital admission criteria, diagnostic tests, management, and prophylaxis recommendations. RESULTS: Hospital admission criteria varied but typically included age <18 months and complex FS. Neuroimaging and lumbar puncture recommendations varied, with most guidelines suggesting limited use. Pharmacologic prophylaxis was generally discouraged for simple FS but considered only for high-risk cases, due to the benign nature of FS and the potential side effects of antiseizure medications. CONCLUSIONS: Guidelines on FS exhibit similarities and differences, highlighting the need for standardized management and improved parental education to enhance clinical outcomes and reduce economic and social costs associated with FS. Future research should focus on creating updated international guidelines and ensuring their practical implementation.

Keto Clarity: A Comprehensive Systematic Review Exploring the Efficacy, Safety, and Mechanisms of Ketogenic Diet in Pediatric Epilepsy.

Epilepsy, a widespread neurological disorder characterized by recurrent seizures, affects millions globally, with a significant impact on the pediatric population. Antiepileptic drugs (AEDs) constitute the primary treatment; however, drug-resistant epilepsy (DRE), especially in children, poses a therapeutic challenge. Alternative interventions, such as surgery, vagus nerve stimulation, and the ketogenic diet (KD), have been explored. This systematic review aims to investigate various types of KDs, their distinctions, their effectiveness, and their safety concerning the reduction of seizure frequency, achieving seizure freedom, and the occurrence of adverse events. The study adheres to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines. A comprehensive search was conducted using databases such as PubMed Central (PMC), MedLine, and Science Direct to identify relevant articles. Eligibility criteria and quality assessment tools were applied to evaluate the potential risk of bias and select 11 articles for inclusion in this review. The selected articles encompassed four randomized controlled trials (RCTs), two systematic reviews, and five narrative reviews. The data collected for this review was completed on October 2, 2023. Challenges, such as palatability, cultural factors, and adherence difficulties, were identified. Family or caregiver involvement plays a pivotal role in treatment success. Despite numerous RCTs and reviews, information gaps persist, hindering conclusive outcomes. Evaluating the risk-benefit ratio is crucial, considering potential side effects. The highly individualized nature of KD therapy, influenced by diverse seizure types and syndromes, necessitates a trial-and-error approach monitored by a multidisciplinary team. Long-term safety and efficacy demand continuous real-life patient data review. In summary, while KD presents a promising alternative for DRE, its success relies on meticulous planning, individualized implementation, and ongoing research to address existing challenges and information gaps.

Case report: Febrile infection-related epilepsy syndrome in a 14-year-old girl with multiple organ failure and lethal outcome.

We report a case of an otherwise healthy 14-year-old girl with febrile infection-related epilepsy syndrome (FIRES), multiple organ failure (MOF), and ultimately a lethal outcome. This is a rare case of FIRES with MOF and consecutive death. Only a few cases have been described in the literature. The adolescent girl was initially admitted to our pediatric emergency department with a first episode of generalized tonic-clonic seizures after a short history of fever a week before admission. Seizures progressed rapidly into refractory status epilepticus without any evidence of the underlying cause, and treatment subsequently had to be escalated to thiopental anesthesia. Since the initial diagnostics showed no promising leads, the rare syndrome of FIRES was suspected, representing a catastrophic epileptic encephalopathy linked to a prior benign febrile infection. Methylprednisolone, intravenous immunoglobulins, and a ketogenic diet were initiated. Respiratory, circulatory, kidney, and liver failure developed during treatment, requiring increasing intensive care. Multiple attempts to deescalate antiepileptic treatment resulted in recurrent status epilepticus. A cranial MRI on the 10th day of treatment revealed diffuse brain edema and no cerebral perfusion. The patient was declared dead on the 11th day of treatment. FIRES should be taken into account in previously healthy children with a new onset of difficult-to-treat seizures after a short febrile infection when no other cause is apparent. First-line treatment, besides seizure control, is the early initiation of immunomodulatory therapy and the start of a ketogenic diet. As treatment is difficult and MOF may develop, patients should be transferred to a specialized children's hospital providing full intensive care.

Efficacy of Melatonin as a Sleep Inducer in EEG Procedures in the Pediatric Population: A Cross-Sectional Study.

Introduction Melatonin has been used as an alternative to sleep deprivation for EEG sleep induction in the pediatric population. Our study aims to describe the efficacy of the currently used doses of melatonin for sleep induction among the pediatric age group. Methods A retrospective cross-sectional study included all patients who underwent an EEG after receiving melatonin over the period of one year. A total of 126 patients have been included in the study. Patients aged one year to three years received oral melatonin in doses between 2 mg and 6 mg. Patients in the age of three years and above received 10 mg of melatonin. Patients' success rate in achieving sleep and the exact time required for the patients to fall asleep were obtained using the readings of their EEG. The percentage of patients who have achieved sleep and the time required for those patients to sleep were calculated and correlated with the patient's gender, the presence of any associated neurobehavioral disorders, and their use of antiepileptic drugs (AED). Results Successful sleep was achieved in 84.9% (n:107) of the patients, with a mean time of 24 minutes to fall asleep (SD = 14.36). Patients with neurobehavioral disorders were 20% less likely to fall asleep when compared to other patients without neurobehavioral disorders (p: 0.003). However, there was not a statistically significant difference among different genders and among patients who received AED. Conclusion Melatonin is an effective sleep inducer for patients undergoing EEG procedures. It should be considered in the majority of patients. However, in patients with neurobehavioral disorders, a lower success rate is expected.

Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey.

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Clinical trial data suggest early diagnosis and treatment are critical. The purpose of this study was to evaluate neurology appointment wait times for newborn screening identified infants, pediatric cases mirroring SMA symptomatology, and cases in which SMA is suspected by the referring physician. Approaches for triaging and expediting referrals in the US were also explored. METHODS: Cure SMA surveyed healthcare professionals from two cohorts: (1) providers affiliated with SMA care centers and (2) other neurologists, pediatric neurologists, and neuromuscular specialists. Surveys were distributed directly and via Medscape Education, respectively, between July 9, 2020, and August 31, 2020. RESULTS: Three hundred five total responses were obtained (9% from SMA care centers and 91% from the general recruitment sample). Diagnostic journeys were shorter for infants eventually diagnosed with SMA Type 1 if they were referred to SMA care centers versus general sample practices. Appointment wait times for infants exhibiting "hypotonia and motor delays" were significantly shorter at SMA care centers compared to general recruitment practices (p = 0.004). Furthermore, infants with SMA identified through newborn screening were also more likely to be seen sooner if referred to a SMA care center versus a general recruitment site. Lastly, the majority of both cohorts triaged incoming referrals. The average wait time for infants presenting at SMA care centers with "hypotonia and motor delay" was significantly shorter when initial referrals were triaged using a set of "key emergency words" (p = 0.036). CONCLUSIONS: Infants directly referred to a SMA care center versus a general sample practice were more likely to experience shorter SMA diagnostic journeys and appointment wait times. Triage guidelines for referrals specific to "hypotonia and motor delay" including use of "key emergency words" may shorten wait times and support early diagnosis and treatment of SMA.

Diagnosis and management of infantile epileptic spasms syndrome (IESS) in Gulf Cooperation Council (GCC) countries: Expert consensus statement.

Despite the availability of international recommendations for the management of Infantile Epileptic Spasms Syndrome (IESS), there is a lack of recommendations adapted to the local context of clinical practice of pediatric neurology in the Gulf Cooperation Council (GCC) countries. By an initiative from the Saudi Pediatric Neurology Society (SPNS), a literature review was performed and an expert panel comprised of 13 pediatric neurologists from all GCC countries (Saudi Arabia, Kuwait, Bahrain, Oman, Qatar, and the United Arab Emirates) was subsequently convened to discuss all issues related to the management and diagnosis practices of IESS in the GCC. The overall aim of this consensus document was to develop practical recommendations to support the care of patients with IESS in the GCC and to reflect on how clinical management approaches compare with those adopted internationally.

Landau-Kleffner Syndrome, Attention-Deficit/Hyperactivity Disorder (ADHD), and Viral/Autoimmune Encephalitis: Challenges in the Diagnosis and Management of a Six-Year-Old Boy.

In this case, we discuss the difficulties and challenges faced when diagnosing and treating a six-year-old boy presenting with abnormal behaviors and difficulty in concentration and inattentiveness, followed by regression of expressive language. These symptoms were then followed by hyperactivity, bouts of anger, and difficulty sleeping. The patient was seen by a psychiatrist, and he was diagnosed with attention-deficit/hyperactivity disorder (ADHD) initially and treated with little to no improvement. He was then recommended to see a neurologist by his psychiatrist and underwent a series of investigations, which included the following: brain MRI with contrast, magnetic resonance (MR) spectroscopy, cerebrospinal fluid (CSF) routine, CSF N-methyl-D-aspartate (NMDA) receptor antibody and glutamate decarboxylase (GAD) antibody analysis, and a CSF meningitis multiplex polymerase chain reaction, thyroid function, ammonia, lactate, creatine kinase, liver function, and metabolic screening of urine organic acids (UOAs), all of which revealed no abnormalities. Vitamin D was low at 38 ng/ml (>50). An electroencephalogram (EEG) done under standard conditions and provocative stimulation was abnormal with bilateral central and frontal discharge and more activity on the right side, revealing a background activity of moderately organized alpha waves (8-13 Hz) and bursts of sharp and slow wave activities that were accentuated by photic stimulation. Polysomnography showed poor sleep efficiency of 84.7%, and rapid eye movement (REM) stage was not reached due to interrupted sleep. He was then diagnosed with epileptic encephalopathy and Landau-Kleffner syndrome (LKS). The patient was prescribed sodium valproate, intravenous immunoglobulin (IVIG), and pulse steroids, with no major improvement, risperidone was added but was poorly tolerated, and the dose tapered off and eventually discontinued. Methylphenidate was the prescribed starting at 5 mg, and the dose was gradually increased to 20 mg/day given separately as 10 mg twice a day. A week later, melatonin 2 mg was added. Three months, later the EEG was repeated and was normal, and sodium valproate was tapered off and eventually discontinued. Later on that year, he was diagnosed with COVID-19 and developed acute myositis as a complication, methylphenidate was stopped, and only sertraline and melatonin were continued. MRI was repeated only this time, showing evidence of viral/autoimmune encephalitis (AIE) sequela, and IV corticosteroids were given alongside IVIG. He was discharged on prednisolone, and a month later, major improvements were seen in all aspects.

A Rare Case of a Subgaleal Hematoma With Global Developmental Delay, Scurvy, and Congenital Toxoplasmosis, Rubella, Cytomegalovirus, Herpes Simplex, and HIV (TORCH) Infection.

This case report details the complex presentation of a six-year-old female child with global developmental delay (GDD), scurvy, congenital toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and HIV (TORCH) infection and a subgaleal hematoma. The patient's medical history included delayed developmental milestones, bilateral congenital cataract, and a previous generalized tonic-clonic seizure. Thorough investigations revealed cerebral atrophy, bilateral ventricular dilatation, and periosteal thinning consistent with scurvy. The interdisciplinary approach involving neurology, ophthalmology, and orthopedics resolved the subgaleal hematoma. This case underscores the intricate interplay of neurological, nutritional, and infectious factors in pediatric conditions and highlights the importance of a collaborative, multidisciplinary approach for accurate diagnosis and effective management.

A Rare Pediatric Neurological Case: Dyke-Davidoff-Masson Syndrome Unprecedented at 10 Months.

This case report presents a rare occurrence of Dyke-Davidoff-Masson Syndrome (DDMS) in a 10-month-old male child, highlighting the atypical presentation of this neurological disorder in early infancy. The child initially presented with irritability, loss of appetite, and right-sided weakness following episodes of fever. A comprehensive medical history revealed the sudden onset of generalized tonic-clonic seizures, prompting further investigation. Diagnostic imaging, including CT and MRI, confirmed features consistent with DDMS, including cerebral hemiatrophy, ventricular enlargement, and calvarial thickening. Notably, the child's seizures were successfully managed with antiepileptic medication, leading to stabilized vital signs. This case emphasizes the importance of considering rare neurological disorders in pediatric patients with unusual presentations and underscores the challenges in diagnosing and managing DDMS in infancy. Further research is warranted to elucidate the underlying mechanisms, contributing factors, and optimal management strategies for DDMS in this age group.

EPITRANS. Quality assessment of the epilepsy transition process.

OBJECTIVE: To analyze the differences in clinical management during the epilepsy transition process from pediatric to adult care and to determine the quality of life and degree of satisfaction of patients and caregivers during the transition. METHODS: This is a longitudinal study including patients with epilepsy transferred from pediatric to adult epilepsy care between 2013 and 2017. Patients had a minimum follow-up of 3 years before the transition visit and at least 3 years consulting in the adults section. Clinical characteristics were retrieved from the medical chart. Quality of life and satisfaction questionnaires were administered by online access to patients and caregivers at the end of the adult follow-up period. RESULTS: 99 patients (50.5 % women, mean transition age 16.5 ± 1 years old) were included. Before the transition visit, 90 % of patients received a transition discussion and 88 % had a formal clinical report. In the pediatric period, patients were visited more frequently, had more EEGs and genetic studies, and were seen by the same neuropediatrician (P<0.05). In the adult period, patients underwent a larger number of prolonged video EEGs and were prescribed polytherapy more often (P<0.05). Quality of life remained steady during the entire transition, but satisfaction with the care received was significantly higher during the pediatric period. CONCLUSIONS: Significant differences were seen in epilepsy care during transition from pediatric to adult management, and this had an impact on the degree of satisfaction reported by patients and caregivers. Our results provide evidence of the potential value of development and early implementation of a protocolled transition program.

Safety and efficacy of levetiracetam and carbamazepine monotherapy in the management of pediatric focal epilepsy: a randomized clinical trial.

Due to the limited number of studies in children with focal epilepsy and the importance of choosing the most suitable drug to control seizures in children, the administration of the most effective medication with the most negligible adverse events is vital. This study aimed to evaluate the effectiveness and adverse events of carbamazepine vs. levetiracetam monotherapy in children with focal seizures. A monocentric, randomized, controlled, double-blind, parallel-group clinical trial was designed. This study was approved by the Iranian Registry of Clinical Trials (registration number: IRCT20170216032603N2) on June 19, 2020, and conducted at the neurology department of Imam Ali Hospital, Karaj, Iran, from February 2020 to March 2021. This study assessed 120 patients with recently diagnosed focal seizures aged 2 to 14. Patients were randomly divided into two groups, who received carbamazepine (CBZ) 15 to 20 mg/kg and levetiracetam (LEV) 20 to 40 mg/kg daily, respectively. Patients were evaluated for improvement and complications at weeks 4, 12, and 24. Out of 120 patients included in the study, six patients were excluded due to various complications of CBZ. The mean number of seizures at the end of the fourth, twelfth, and twenty-fourth weeks were 1.09 ± 0.75, 0.62 ± 0.27, and 0.39 ± 0.12 in the carbamazepine group and 1.11 ± 0.63, 0.52 ± 0.21, and 0.37 ± 0.11 in the LEV group, respectively (P > 0.05). Similarly, the number of seizure-free patients was 34, 44, and 48 in the CBZ group compared to 41, 50, and 54 in the LEV group, respectively (P > 0.05). On the other hand, the frequency of somnolence, dermatologic complications, and agitation was considerably higher in the CBZ group (P < 0.05). Although both medicines were equally effective in seizure control, CBZ was associated with considerably more adverse events and less patient compliance. Physicians should be aware of this difference to prevent unwanted consequences.

Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges.

Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality, characterized by progressive neuromuscular degeneration resulting from mutations in the survival motor neuron (SMN1) gene. The availability of disease-modifying therapies for SMA therapies highlights the pressing need for easily accessible and cost-effective blood biomarkers to monitor treatment response and for better disease management. Additionally, the wide implementation of newborn genetic screening programs in Western countries enables presymptomatic diagnosis of SMA and immediate treatment administration. However, the absence of monitoring and prognostic blood biomarkers for neurodegeneration in SMA hinders effective disease management. Neurofilament light protein (NfL) is a promising biomarker of neuroaxonal damage in SMA and reflects disease progression in children with SMA undergoing treatment. Recently, the European Medicines Agency issued a letter of support endorsing the potential utilization of NfL as a biomarker of pediatric neurological diseases, including SMA. Within this review, we comprehensively assess the potential applications of NfL as a monitoring biomarker for disease severity and treatment response in pediatric-onset SMA. We provide reference ranges for normal levels of serum based NfL in neurologically healthy children aged 0-18 years. These reference ranges enable accurate interpretation of NfL levels in children and can accelerate the implementation of NfL into clinical practice.

Does E-learning Facilitate Medical Education in Pediatric Neurology?

BACKGROUND: E-learning has become commonplace in medical education. Incorporation of multimedia, clinical cases, and interactive elements has increased its attractiveness over textbooks. Although there has been an expansion of e-learning in medicine, the feasibility of e-learning in pediatric neurology is unclear. This study evaluates knowledge acquisition and satisfaction using pediatric neurology e-learning compared to conventional learning. METHODS: Residents of Canadian pediatrics, neurology, and pediatric neurology programs and medical students from Queens University, Western University, and the University of Ottawa were invited to participate. Learners were randomly assigned two review papers and two ebrain modules in a four-topic crossover design. Participants completed pre-tests, experience surveys, and post-tests. We calculated the median change in score from pre-test to post-test and constructed a mixed-effects model to determine the effect of variables on post-test scores. RESULTS: In total, 119 individuals participated (53 medical students; 66 residents). Ebrain had a larger positive change than review papers in post-test score from pre-test score for the pediatric stroke learning topic but a smaller positive change for Duchenne muscular dystrophy, childhood absence epilepsy, and acute disseminated encephalomyelitis. Learning topics showed statistical relationship to post-test scores (p = 0.04). Depending on topic, 57-92% (N = 59-66) of respondents favored e-learning over review article learning. CONCLUSIONS: Ebrain users scored higher on post-tests than review paper users. However, the effect is small and it is unclear if it is educationally meaningful. Although the difference in scores may not be substantially different, most learners preferred e-learning. Future projects should focus on improving the quality and efficacy of e-learning modules.