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This article considers interactional trouble that arises when the social distribution of knowledge and interpersonal relationships come together in the delivery and reception of good news in pediatric neurology visits for video-electroencephalography testing. Contrary to common perceptions of good news as easy to deliver and receive, I find that it is occasionally fraught with hesitancy in this context. Using conversation analysis, I explore what drives this trouble and argue that some of the difficulty associated with good news in this context arises from its structure: Physicians prioritize conveying “the facts” of the news over characterizing its valence. However, parents treat physicians’ assessments of the news as critical for the news delivery. When physicians fail to evaluate the information they present, parents tend to treat news deliveries as incomplete, which not only causes difficulties in their reception of the news but also leads to protracted news deliveries.

Traumatic brain injury (TBI) is a common problem in Latin America and affects many children. Research has advanced, but international publications do not necessarily reflect our reality. For this reason, the Ibero-American Academy of Pediatric Neurology (AINP) formed a committee to review the available evidence, evaluate it, and decide how it could be applied in our region. Articles were searched in different databases and those corresponding to original works were selected, preferably those that received the best qualifications according to the 2011 version of Oxford Levels of Evidence. The main findings are the need to develop a trauma team available throughout the pediatric level III emergency, early monitoring of intracranial pressure, and multimodal monitoring as methods to improve outcomes. We concluded that much remains to be done and more evidence is needed, but more organization is required to provide specialized resources in the emergency care of these patients. [ABSTRACT FROM AUTHOR]

Objective: Childhood epilepsy with centrotemporal spikes (CECTS) is associated with cognitive, behavioral, and language difficulties. These epileptic discharges predominantly occur in the temporal lobe, which is known to be involved in olfactory functions. This study aims to assess olfactory dysfunction in patients with CECTS. Methods: This study included patients diagnosed with CECTS who were attending follow-ups at the Department of Child Neurology between January 2022 and July 2023. Olfactory function was evaluated using the Sniffin' Sticks (Burghart GmbH, Wedel, Germany) 12-point screening test, which was administered to 44 patients and 35 controls. The smell test and the final control EEGs were performed simultaneously. Results: A total of 44 patients and 35 control subjects were enrolled in this study. The smell scores were significantly lower in the patient group compared to the control group (p = 0.029). The patient group had a very high prevalence of anosmia compared to the control group. The normosmia rate in the control group was significantly higher. No significant difference was observed in the smell scores based on EEG findings or antiepileptic drug type. Conclusions: Olfactory dysfunction was identified in patients with CECTS compared to healthy controls, yielding results consistent with findings for other types of epilepsy. Olfactory dysfunction was detected in a greater frequency among the patients diagnosed with CECTS than among the healthy control group, and similar results were obtained with other types of epilepsy. It was deduced that these patients may experience problems with smell sensitivity throughout their lives. The most important result of this study is that this condition should be taken into account in regard to patients' well-being and lives. [ABSTRACT FROM AUTHOR]

The 53rd Child Neurology Society Annual Meeting features sessions on pediatric neurology topics such as epilepsy, neurodevelopmental disorders, and gene therapy. Child neurologists emphasize the importance of early detection and intervention for improved patient outcomes. Research on various neurological conditions, including SOD, DS, and AADC deficiency, highlights the need for further studies to optimize treatment strategies. The document also includes case studies and analyses on conditions like LGI-1 autoimmune encephalitis and RAPSYN-related CMS, showcasing successful management approaches and potential therapeutic benefits. [Extracted from the article]

Serial neonatal encephalopathy (NE) examinations are difficult to perform in rural community hospitals as on-site experts are not readily available. We implemented a synchronous, acute care model of teleconsultation—the Maine Neonatal Encephalopathy Teleconsultation program (Maine NET)—to provide remote, joint assessment of NE by pediatric neurology and neonatology at nine community hospitals and one tertiary care center. We performed a qualitative study to interview clinicians about their experience of this program. From April 2018 to October 2022, we employed a semistructured interview format with 16 clinicians representing all participating hospitals. We utilized deductive analysis to assign a set of predefined codes to the transcribed interviews. Thematic analysis supported the anticipated benefits of Maine NET, demonstrating that clinicians felt resource utilization, collaborative decision making, communication, and continuity of care were improved. Clinicians overwhelmingly supported the program: "This program has truly saved babies' lives and future function. I have not met any parents through this journey, who aren't incredibly grateful for the care that is provided" and emphasized the benefit of collaboration between all care team members. Teleconsultation was felt to be "more than adequate to [assess] NE." Connectivity issues were cited as a limitation. Maine NET has positively impacted care delivery for newborns with clinical concerns for NE. Additionally, the program has improved resource allocation, collaborative decision making, communication, and equity of care. Addressing technological challenges will be vital to the success and sustainability of the planned Maine NET expansion. [ABSTRACT FROM AUTHOR]

The article titled "A Hundred Faces for a Unique Disorder: Hereditary Spastic Paraplegia" provides an overview of Hereditary Spastic Paraplegia (HSP), a group of inherited neurodegenerative disorders characterized by lesions of the pyramidal tract. The disorder presents with progressive lower limb spasticity and weakness, and exhibits wide clinical and genetic variability. The article discusses the genetic causes of HSP, including various inheritance patterns and the involvement of over 80 genes. It also describes the clinical presentation of HSP, highlighting the differences based on age of onset and the presence of additional neurological or non-neurological features. This document provides information on hereditary spastic paraplegia (HSP), a rare and diverse clinical disorder characterized by progressive weakness and spasticity in the lower limbs. The diagnosis of HSP is based on symptoms, family history, and genetic analysis. Treatment aims to manage symptoms and prevent complications, but there is currently no cure for HSP. The prognosis varies, with some individuals experiencing severe disability and others having a normal life expectancy. Early diagnosis and treatment can help reduce symptoms associated with HSP. [Extracted from the article]

Copyright of Die Nephrologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Cerebral palsy (CP) is a common neurodevelopmental disorder characterized by impaired mobility and posture caused by brain injury or abnormal development. CP relates to a variety of neurological mechanisms and pathways that impact the type and severity of motor disability, as well as comorbidities. The heterogeneity in clinical phenotype, pathogenesis, and etiology poses significant challenges for effective therapeutic intervention. Objectives: The review aims to provide a comprehensive analysis of the neurobiological mechanisms underlying CP and evaluate current and prospective therapeutic strategies, highlighting the necessity for targeted interventions to address the disorder's multifaceted nature. Methods: A thorough literature review was conducted, focusing on studies published in peer‐reviewed journals that explore the pathophysiological mechanisms, clinical interventions, and therapeutic strategies for CP. Results: The pathogenesis of CP involves a complex interplay of genetic, environmental, and perinatal factors leading to brain injury. Inflammatory processes, oxidative stress, and excitotoxicity are critical in CP development. Current therapeutic approaches primarily focus on symptom management through physical and occupational therapy, as well as pharmacological interventions. Emerging therapies, including anti‐inflammatory agents, antioxidants, and neuroprotective and neurotrophic agents, show potential but require further validation. Notably, although steroids provide anti‐inflammatory benefits, their use in pediatric patients raises concerns regarding long‐term adverse effects such as osteoporosis. Conclusion: Despite advances in understanding CP's neurobiological underpinnings, effective therapeutic targets remain elusive. A comprehensive approach addressing CP's heterogeneity is essential. Future research should emphasize in‐depth evaluations of the efficacy and safety of therapeutic agents, particularly in pediatric populations, to develop targeted and effective treatments for CP. [ABSTRACT FROM AUTHOR]

The French Society of Pediatric Neurology and the FILNEMUS network created a working group on corticosteroid therapy in children with Duchenne muscular dystrophy in order to analyze the literature review and current French practices. The aim of this work was to produce guidelines regarding treatment initiation, pre-therapeutic interventions, choice between available compounds, and treatment monitoring (dosage, duration, and discontinuation). The treatment side effects and their management are also detailed: osteoporosis, endocrinological anomaly (growth delay, weight gain, pubertal delay), cataract, arterial hypertension, behavioral disorders, management of immunosuppression and vaccines, and management of gastrointestinal and metabolic complications. [ABSTRACT FROM AUTHOR]

This document is a compilation of obituaries for medical professionals in Canada. It includes details such as their names, locations, alma maters, areas of specialization, dates of death, and surviving family members. Each obituary also provides a link to a website where readers can find more information about the individual. The obituaries cover a wide range of medical fields and serve to highlight the accomplishments and legacies of these professionals. The document aims to honor their lives and contributions while also serving as a valuable resource for library patrons conducting research on specific medical topics. [Extracted from the article]

Background/Aim: Leukodystrophies comprise a group of genetic white matter disorders that lead to progressive motor and cognitive impairment. Recent development of novel therapies has led to an increase in clinical trials for leukodystrophies. To enable recruitment of individuals with a leukodystrophy into clinical trials, clinical trial acceptability should be ascertained. We sought therefore, to identify the motivations for and barriers to clinical trial participation in addition to clinical trial features that may be of concern to individuals with a leukodystrophy and/or their carers. Methods: Adults with a leukodystrophy and parents/carers of individuals with a leukodystrophy were recruited through the Australian Leukodystrophy Registry and through online advertisements. Qualitative semi-structured interviews were used to explore participants views on what clinical trials involve, the perceived risks and benefits of clinical trials, their desire to participate in clinical trials and their personal experience with leukodystrophy. Thematic analysis of data was performed with co-coding of interview transcripts. Results: 5 interviews were held with parents of children with leukodystrophy, 4 with parents of adults with leukodystrophy and 3 with adults diagnosed with leukodystrophy. Motivations for clinical trial enrolment include access to potentially lifesaving novel treatments and improved prognostic outcomes. Participants were concerned about adverse clinical trial outcomes, including side effects and exacerbation of illness. Despite this, majority of participants were willing to try anything in clinical trials, demonstrating a high tolerance for first in human trials and trials utilising invasive treatment options. Conclusions: Interviewees communicated a strong desire to participate in interventional clinical trials involving novel therapies. To support enrolment into future leukodystrophy clinical trials we suggest the provision of transparent information regarding clinical trial treatments, consideration of alternative trial control measures, and inclusion of treating clinicians in the trial recruitment process. Clinicians play an integral role in initiating transparent conversations regarding trial risks and adverse outcomes. [ABSTRACT FROM AUTHOR]

Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Aim: Headaches are a major cause of presentations to pediatric neurology clinics, the majority being primary. Although diagnosis is mostly based on medical history and physical examination, imaging methods and electroencephalography (EEG) are used for differential diagnosis or identifying accompanying conditions. We evaluated cases of primary headache presenting to a newly established pediatric neurology clinic in July-December 2022 and compared their magnetic resonance imaging (MRI) and EEG findings. Materials and Methods: Individuals presenting with headaches were first classified as primary or secondary headaches, and patients with primary headaches were included as migraine or tension-type headaches (TTH). Two hundred four patients presented but only fifty migraines and 50 TTH patients, who had EEG and MRI, met the study criteria. Results: Greater photophobia, phonophobia, and family histories were present in the migraineurs, while attack frequencies were higher and durations shorter in the TTH group (p=0.025, p=0.001, respectively). Pain was generally throbbing in character in the migraine patients and compression in the TTH cases. No pathology was encountered in the MRIs of 90% of the migraine patients and 94% of the TTH group. While no pathology was detected at EEG in most cases, sharp spike-wave activity was determined in 10% of the migraine patients and in 2% of the TTH group. Conclusion: MRI and EEG are not generally required in the diagnosis of primary headaches once a detailed history and physical examination have been performed. While the majority of brain MRI requests are of no particular diagnostic value, unnecessarily requested EEGs can lead to misdiagnoses. It is crucially important to ensure that patients are closely monitored and that unnecessary requests are avoided. [ABSTRACT FROM AUTHOR]

Introduction. Progressive muscular dystrophy (MD), characterized by the gradual deterioration of muscle tissues due to pathogenic variants in the dystrophin gene, often co-occurs with intellectual disability (ID). This co-occurrence significantly impacts various aspects of patient's lives, including academic performance, social and emotional development, independence, therapeutic management, and overall quality of life. Objectives. Our study aims to determine the prevalence of ID and explore its potential associations with specific dystrophin isoforms. Materials and Methods. A cross-sectional examination involved 61 individuals aged 3 to 18 with Duchenne and Becker muscular dystrophy under the care of the Pediatric Neurology Department at "Dr. Victor Gomoiu" Children's Hospital in Bucharest, Romania. Results. In our patient cohort ID was found in 32.78%, a rate higher than typically reported in the medical literature. Additionally, we observed correlations with Dp427 and Dp140, 6 with Dp427, and 3 with Dp427, Dp140, and Dp71. Conclusions. This study highlights a higher prevalence of ID among muscular dystrophy patients and suggests correlations between ID and specific dystrophin isoforms (Dp427, Dp140, and Dp71) [ABSTRACT FROM AUTHOR]

Background: A lack of postural control is one of the key problems in children with cerebral palsy (CP). The goals of the present study were to assess static postural stability in children with mild CP using a force platform compared to that of typically developing peers and to identify differences in static stability between children with hemiplegic and diplegic CP. Methods: This study included 45 children with hemiplegic CP and 45 children with well-functioning diplegic CP (Gross Motor Function Classification System; GMFCS scores between I and II) who were patients of local paediatric rehabilitation centres. The testing procedure included two interrelated parts: (1) the analysis of the body weight distribution and (2) the posturometric test (the centre of pressure; CoP measurements) using the force platform. Results: The results of the present study show that children with CP, compared to their TD peers, demonstrated significantly higher values for all of the analysed indexes of postural stability. The obtained results indicate differences in disorders of static postural stability between children with hemiplegic and diplegic CP. Compared to their TD peers, children with hemiplegic CP showed greater body weight asymmetry between the affected and unaffected sides of the body and greater CoP sway in the medial–lateral direction. In contrast, children with diplegic CP exhibited greater CoP displacements in the anterior–posterior direction. Conclusions: The findings of the present study show that (1) children with CP have increased static postural instability compared to their TD peers and (2) children with diplegic CP exhibit weaker mediolateral stability in standing, whereas children with hemiplegic CP show reduced anterior–posterior stability. [ABSTRACT FROM AUTHOR]

Objective: To unravel the clinical and genetic specifications of Neuronal ceroid lipofuscinosis (NCL). Methods: This is a retrospective cross-sectional study conducted in the Department of Pediatric Neurology Children Hospital and University of Child Health Sciences, Lahore, Pakistan from March 2017 to March 2022. The primary outcome was to measure genotype-phenotype correlation by segregation of phenotypes according to genotype. The secondary outcomes included a correlation between genotype and distribution of age(s) of onset. Results: One hundred fifty three patients clinically diagnosed with NCL underwent genetic testing and pathologic mutation was identified in 32.7% of patients. About 59.6% were male and 37.2% had an affected sibling. The median age was 5.46±1.95 years at the onset of the first symptom i.e., myoclonic seizures in 68%, and motor difficulty in 24%. Other features found were global developmental delay (56%), hypotonia (23%), visual impairment (80%), ataxia (22%), and disc pallor (56%). The most common type was CLN6 (Ceroid lipofuscinosis neuronal) (42%), CLN2 (16%) followed by CLN7 (12%). When 50 patients with recognized mutations were compared with 103 patients with no mutation, family history (p=0.049), early visual loss (p=0.016), hypotonia (p=0.001), white matter signals (p=0.026) and pan-atrophy(p=0.047) was statistically significant in the genetically confirmed NCL. Multiple pairwise comparisons indicated that the estimated age of onset for the CLN1 and CLN2 mutation group was significantly lower than other genotypes including CLN6 (p 0.012), CLN10 (p 0.007) and CLN12 (p 0.007). Conclusion: Following a detailed review of NCL symptomatology, a clinically-oriented approach should be used for a rapid diagnosis with confirmation by targeted molecular testing for future genetic counseling. [ABSTRACT FROM AUTHOR]

We aimed to study the risks of relapse and long term disability in children with non-MS acquired demyelinating syndromes (ADS). In this prospective, multi-centre study, from the 14 UK pediatric neurology centres, children (<16 years) experiencing a first episode of ADS were recruited from 2010 to 2014. Case report forms were collected prospectively. A total of 269 children were recruited and followed up for a median of 7.2 years. Median age at onset was 9y (IQR 9.5–14.5, 126 females). At last follow-up, 46 (18 %) had MS, 4 AQP4-Ab NMOSD and 206 (80 %) had other ADS, of which 27 (13 %) relapsed. Relapsing MOGAD was the diagnosis in 12/27, 6 were seronegative and 9 did not have antibodies tested. Frequency of relapse differed according to first presentation in non-MS ADS, being least likely in transverse myelitis (p = 0.025). In the non-MS group, MOG-Ab was predictive of relapse (HR = 8.42; p < 0.001) occurring 8 times as often decreasing over time. Long-term difficulties did not differ between children with monophasic vs relapsing diseases. The risk of relapse in non-MS ADS depends on initial diagnosis, and MOG-Ab positivity. Long-term difficulties are observed regardless of relapses and are determined by presenting phenotype. [ABSTRACT FROM AUTHOR]

This study aimed to determine whether more stable electroretinography parameters could be obtained in younger children using skin electrodes placed at the inner canthus and ears compared to using contact lens electrodes. The study included three Japanese patients (two girls and one boy) who presented with epileptic spasms before the age of 3 years. We compared the electroretinography parameters obtained with skin electrodes and contact lens electrodes. We could record reproducible results using skin ERG with a montage of electrodes placed at the inner canthus and the ear in children. Moreover, standard data for younger children were created, enabling the evaluation of electroretinography parameters recorded with skin electrodes in individual pediatric patients. The skin electroretinography using the new montage may be stable parameters for evaluating retinal function in younger children. [ABSTRACT FROM AUTHOR]

In pediatric medical visits, parents may assume the role of co-caregiver with clinicians. At times, parents challenge physicians' authority to determine diagnoses and treatments for their children. The present study uses conversation analysis to examine parents' accounts for their intrusions on medical authority in a corpus of 35 video-recorded pediatric neurology visits for overnight video-electroencephalogram monitoring. I show how parents can exploit their legitimate role as carers to challenge medical authority. Through invoking uncertainty in contexts where they have somehow challenged medical authority, parents can account for their conduct in ways that elide direct conflict with physicians and thereby minimize damage to the physician-family partnership.

Aim: Headaches are a major cause of presentations to pediatric neurology clinics, the majority being primary. Although diagnosis is mostly based on medical history and physical examination, imaging methods and electroencephalography (EEG) are used for differential diagnosis or identifying accompanying conditions. We evaluated cases of primary headache presenting to a newly established pediatric neurology clinic in July-December 2022 and compared their magnetic resonance imaging (MRI) and EEG findings. Materials and Methods: Individuals presenting with headaches were first classified as primary or secondary headaches, and patients with primary headaches were included as migraine or tension-type headaches (TTH). Two hundred four patients presented but only fifty migraines and 50 TTH patients, who had EEG and MRI, met the study criteria. Results: Greater photophobia, phonophobia, and family histories were present in the migraineurs, while attack frequencies were higher and durations shorter in the TTH group (p=0.025, p=0.001, respectively). Pain was generally throbbing in character in the migraine patients and compression in the TTH cases. No pathology was encountered in the MRIs of 90% of the migraine patients and 94% of the TTH group. While no pathology was detected at EEG in most cases, sharp spike-wave activity was determined in 10% of the migraine patients and in 2% of the TTH group. Conclusion: MRI and EEG are not generally required in the diagnosis of primary headaches once a detailed history and physical examination have been performed. While the majority of brain MRI requests are of no particular diagnostic value, unnecessarily requested EEGs can lead to misdiagnoses. It is crucially important to ensure that patients are closely monitored and that unnecessary requests are avoided.

Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA). Variants in FTH1 have not been previously associated with neurologic disease. We describe the clinical, neuroimaging, and neuropathology findings of five unrelated pediatric patients with de novo heterozygous FTH1 variants. Children presented with developmental delay, epilepsy, and progressive neurologic decline. Nonsense FTH1 variants were identified using whole-exome sequencing, with a recurrent variant (p.Phe171∗) identified in four unrelated individuals. Neuroimaging revealed diffuse volume loss, features of pontocerebellar hypoplasia, and iron accumulation in the basal ganglia. Neuropathology demonstrated widespread ferritin inclusions in the brain. Patient-derived fibroblasts were assayed for ferritin expression, susceptibility to iron accumulation, and oxidative stress. Variant FTH1 mRNA transcripts escape nonsense-mediated decay (NMD), and fibroblasts show elevated ferritin protein levels, markers of oxidative stress, and increased susceptibility to iron accumulation. C-terminal variants in FTH1 truncate ferritin's E helix, altering the 4-fold symmetric pores of the heteropolymer, and likely diminish iron-storage capacity. FTH1 pathogenic variants appear to act by a dominant, toxic gain-of-function mechanism. The data support the conclusion that truncating variants in the last exon of FTH1 cause a disorder in the spectrum of NBIA. Targeted knockdown of mutant FTH1 transcript with antisense oligonucleotides rescues cellular phenotypes and suggests a potential therapeutic strategy for this pediatric neurodegenerative disorder.

Studies that examine the impact of insurance type on the ease of obtaining genetic testing are scarce. Therefore, we aim to analyze how different types of insurance influence the time taken to obtain genetic test results among pediatric neurology patients. This was a retrospective cohort study from Dayton Children's Hospital. Patients who had at least one neurological genetic result found in the electronic medical record from January 1, 2014, to March 1, 2023, were included in the study. Variables collected include demographics, health insurance data, and genetic testing results. A total of 141 patients were included. Most patients were male (51.8%), white (78.0%), and not Hispanic/Latino (96.5%). The mean age at the time of genetic testing was 7.9 years. Most patients had Medicaid as their primary insurance (60.3%) when compared with private insurance (39.7%). Two hundred fifteen genetic reports were examined (137 Medicaid charts and 78 private insurance charts). There was no statistically significant difference from mean time lapse between test order date and results date for Medicaid patients (27.3 days) versus private insurance (31.5 days, P = 0.40). Molecular genetics testing and epilepsy gene panel order were the most common tests ordered for both Medicaid (86.1%, 37.2%) and private insurance (88.5%, 39.7%, respectively). The mean time between test order date and results date was comparable between private- and Medicaid-insured patients. Our results suggest that there is no significant difference for time to result between pediatric neurology patients who carry public versus private insurance for genetic testing. [ABSTRACT FROM AUTHOR]

Aim: To identify research priorities regarding the effectiveness of interventions for children and young people (CYP) with childhood neurological conditions (CNCs). These include common conditions such as epilepsies and cerebral palsy, as well as many rare conditions. Method: The National Institute for Health and Care Research (NIHR) and the James Lind Alliance (JLA) champion and facilitate priority setting partnerships (PSPs) between patients, caregivers, and clinicians (stakeholders) to identify the most important unanswered questions for research (uncertainties). A NIHR–JLA and British Paediatric Neurology Association collaboration used the JLA PSP methodology. This consisted of two surveys to stakeholders: survey 1 (to identify uncertainties) and survey 2 (a prioritization survey). The final top 10 priorities were agreed by consensus in a stakeholder workshop. Results: One hundred and thirty‐two charities and partner organizations were invited to participate. In survey 1, 701 participants (70% non‐clinicians, including CYP and parent and caregivers) submitted 1800 uncertainties from which 44 uncertainties were identified for prioritization in survey 2; from these, 1451 participants (83% non‐clinicians) selected their top 10 priorities. An unweighted amalgamated score across participant roles was used to select 26. In the final workshop, 14 health care professionals, 11 parent and caregivers, and two CYP ranked the 26 questions to finalize the top 10 priorities. Ten top priority questions were identified regarding interventions to treat CYP with CNCs and their associated comorbidities, for example, sleep, emotional well‐being, and distressing symptoms. Interpretation: The results of this study will inform research into the effectiveness of interventions for children with neurological conditions. [ABSTRACT FROM AUTHOR]

To evaluate the utility of genetic testing for etiology-specific diagnosis (ESD) in infantile epileptic spasms syndrome (IESS) with a step-based diagnostic approach in the next-generation sequencing (NGS) era. The study cohort consisted of 314 patients with IESS, followed by the Pediatric Neurology Division of Ege University Hospital between 2005 and 2021. The ESD was evaluated using a step-based approach: step I (clinical phenomenology), step II (neuroimaging), step III (metabolic screening), and step IV (genetic testing). The diagnostic utility of genetic testing was evaluated to compare the early-NGS period (2005 to 2013, n = 183) and the NGS era (2014 to 2021, n = 131). An ESD was established in 221 of 314 (70.4%) infants with IESS: structural, 40.8%; genetic, 17.2%; metabolic, 8.3%; immune-infectious, 4.1%. The diagnostic yield of genetic testing increased from 8.9% to 41.7% in the cohort during the four follow-up periods. The rate of unknown etiology decreased from 34.9% to 22.1% during the follow-up periods. The genetic ESD was established as 27.4% with genetic testing in the NGS era. The genetic testing in the NGS era increased dramatically in subgroups with unknown and structural etiologies. The diagnostic yields of the epilepsy panels increased from 7.6% to 19.2%. However, the diagnostic yield of whole exome sequencing remained at similar levels during the early-NGS period at 54.5% and in the NGS era at 59%. The more genetic ESD (27.4%) was defined for IESS in the NGS era with the implication of precision therapy (37.7%). [ABSTRACT FROM AUTHOR]

CDKL5 deficiency disorder (CDD) is a complex clinical condition resulting from non-functional or absent CDKL5 protein, a serine–threonine kinase pivotal for neural maturation and synaptogenesis. The disorder manifests primarily as developmental epileptic encephalopathy, with associated neurological phenotypes, such as hypotonia, movement disorders, visual impairment, and gastrointestinal issues. Its prevalence is estimated at 1 in 40,000–60,000 live births, and it is more prevalent in females due to the lethality of germline mutations in males during fetal development. This Italian multi-center observational study focused on 34 patients with CDKL5-related epileptic encephalopathy, aiming to enhance the understanding of the clinical and molecular aspects of CDD. The study, conducted across 14 pediatric neurology tertiary care centers in Italy, covered various aspects, including phenotypic presentations, seizure types, EEG patterns, treatments, neuroimaging findings, severity of psychomotor delay, and variant-phenotype correlations. The results highlighted the heterogeneity of seizure patterns, with hypermotor-tonic-spasms sequence seizures (HTSS) noted in 17.6% of patients. The study revealed a lack of clear genotype–phenotype correlation within the cohort. The presence of HTSS or HTSS-like at onset resulted a negative prognostic factor for the presence of daily seizures at long-term follow-up in CDD patients. Despite extensive polypharmacotherapy, including medications such as valproic acid, clobazam, cannabidiol, and others, sustained seizure freedom proved elusive, affirming the inherent drug-resistant nature of CDD. The findings underscored the need for further research to explore response rates to different treatments and the potential role of non-pharmacological interventions in managing this challenging disorder. [ABSTRACT FROM AUTHOR]

Simple Summary: Nerve growth factor (NGF) is a crucial protein for the growth and survival of neurons involved in various neuroprotective and regenerative processes. In neurological disorders, NGF plays a key role in maintaining neuronal health and function. In the context of traumatic brain injury (TBI), NGF levels increase in response to the damage, facilitating neuronal regeneration and reducing the extent of brain injury. These effects make NGF a promising candidate for therapies targeting both neurological diseases and traumatic brain injuries, offering hope for improving neurological function in affected patients. Nerve growth factor (NGF) is a neurotrophic peptide largely revealed for its ability to regulate the growth and survival of peripheral sensory, sympathetic, and central cholinergic neurons. The pro-survival and regenerative properties of neurotrophic factors propose a therapeutic potential in a wide range of brain diseases, and NGF, in particular, has appeared as an encouraging potential treatment. In this review, a summary of clinical studies regarding NGF and its therapeutic effects published to date, with a specific interest in the pediatric context, will be attempted. NGF has been studied in neurological disorders such as hypoxic–ischemic encephalopathy, traumatic brain injury, neurobehavioral and neurodevelopmental diseases, congenital malformations, cerebral infections, and in oncological and ocular diseases. The potential of NGF to support neuronal survival, repair, and plasticity in these contexts is highlighted. Emerging therapeutic strategies for NGF delivery, including intranasal administration as well as advanced nanotechnology-based methods, are discussed. These techniques aim to enhance NGF bioavailability and target specificity, optimizing therapeutic outcomes while minimizing systemic side effects. By synthesizing current research, this review underscores the promise and challenges of NGF-based therapies in pediatric neurology, advocating for continued innovation in delivery methods to fully harness NGF's therapeutic potential. [ABSTRACT FROM AUTHOR]

Children with cerebral palsy (CP) frequently have associated disorders and complications, including gastrointestinal problems. Helicobacter pylori is a common infection worldwide, frequently associated with gastrointestinal manifestations. To estimate the prevalence of H. pylori infection in children with CP , a cross-sectional study over an eight-month period was performed in the pediatric neurology outpatient clinic of Tanta University Hospital. The study included 100 patients with CP aged two to 17 years. All patients were tested for H. pylori antigen in stool by enzyme-linked immunosorbent assay. The mean age of studied children with CP was 7.03 ± 4.1 years; there were 57 males and 43 females. Spastic quadriplegic CP was the most common type of CP (34%). Forty-five children with CP were positive for H. pylori antigen in stool. Intellectual disability (ID), low sociodemographic scoring system, semisolid diet, and Eating and Drinking Ability Classification System (EDACS) levels 4 and 5 were significant predictors of H. pylori infection (odds ratio of 1.86, 2.63, 12, and 1.77, respectively, P < 0.05). Vomiting, abdominal pain, and gastrointestinal tract bleeding were significantly more frequent in H. pylori -infected children with CP than noninfected children with CP (P value < 0.05) H. pylori is a relatively common infection among children with CP. The main risk factors for H. pylori infection were low socioeconomic level, ID, semisolid diet, and EDACS levels 4 and 5. [ABSTRACT FROM AUTHOR]

Rituximab (RTX) resistance or early B-cells repopulation were observed in children but only few publications reported the use of Obinutuzumab and no recommendations were made concerning the dosage for children. This study was a single-center retrospective cohort study of all the children followed-up in the Pediatric Neurology Department of Necker-Enfants malades Hospital in Paris, France, and treated with obinutuzumab, between November 1, 2019, and November 1, 2021. A total of eight children (three females, median age 4.5 years) were treated. Seven patients presented with autoimmune encephalitis and one with myeloradiculitis. The median delay of B-cell repopulation after a course of RTX was 87 days (range 41 to 160). A switch to obinutuzumab (anti-CD20) was performed for eight children. The median duration between the first RTX infusion and obinutuzumab administration was 6.6 months. The dosage regimen for obinutuzumab was one infusion of 1000 mg/1.73 m2, that is to say 580 mg/m2 (maximum 1000 mg/infusion), by extrapolation from the adult dosage. The median delay of B-cell repopulation after one course of obinutuzumab was 230 days (range 66 to 303 days) vs 87 days after one course of RTX (P < 0.01). None of the patients presented side effects with obinutuzumab treatment. All patients had a favorable evolution at the last-follow up. Median follow-up was 1.6 years. This study reports the use of obinutuzumab in neurological inflammatory diseases in a pediatric population. Obinutuzumab seems to have a better biological efficacy than RTX with a longer time of B-cell repopulation. [ABSTRACT FROM AUTHOR]

Inflammation related to influenza virus infection can lead to multiple neurological presentations. Encephalitis is one of them, mostly accompanied by seizures, with different profiles depending on the epidemics and previous medical conditions. All children presenting neurological symptoms and positive for influenza virus RNA detection in a respiratory sample between November 2018 and April 2023, hospitalized in the Department of Paediatric Neurology of Toulouse Children's Hospital, were retrospectively analysed. Among the 1,277 children diagnosed with influenza in our centre, 131 (10.3 %) were hospitalized for neurological features. The year 2020–2021 was marked by zero incidence of positive influenza tests, associated with the COVID-19 pandemic. Among the 131 patients included, 71.6 % were under 5 years old. Most of them (80.9 %) were infected by influenza A virus. The first neurological symptoms were mainly seizures in 73.3 % of patients. Possible or confirmed encephalitis was observed in 29 % of cases, including one acute necrotizing encephalopathy. Few children (6.1 %) presented with acute myositis. Twenty-seven patients (20.6 %) had a personal history of significant previous neurological disorders. Most patients (88.5 %) displayed a rapid favourable outcome, marked by the disappearance of their neurological symptoms within the first 2 days. Anti-epileptic drugs were introduced in 1.5 % of cases, and adapted in 16.8 %, mainly in patients with febrile status epilepticus and an abnormal EEG. Neurological features were frequently associated with influenza infection in children; most were transient. Effects on long-term neurodevelopmental outcomes need to be clarified as our follow-up was limited, especially in children with pre-existing neurological conditions. • Influenza associated neurological manifestations are frequent in children. • Most neurological presentations of influenza are transitory but responsible for a significant number of hospitalisations. • Severe complications of influenza-associated encephalopathy remain rare. • Patients with pre-existing neurological conditions are at greater risk of severe neurological forms of Influenza. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objective: To determine whether pediatric emergency medicine physicians are compliant with the 9-year-old simple febrile seizure guideline created by the American Academy of Pediatrics (AAP). Methods: A retrospective chart review of patients, ages 6 to 60 months, who presented to the emergency department between May 2011 and December 2019. Key variables abstracted were urine, blood, nasal viral swab, and radiographic results. Results: The retrospective cohort of 285 children met inclusion criteria. Among 285 children, 342 studies were performed with a median of 1.2 studies per patient. There were 77 urine cultures obtained with 6 bacterial pathogens. Nasal viral swabs were performed on 65 children with 9 positive results. Blood cultures were obtained for 28 children and none were positive. Chest radiographs were performed on 37 children with 4 showing pneumonia. Conclusion: The study results reflect areas of opportunity to update guidelines with a focus to consider obtaining urine studies, viral sampling, and chest x-rays. [ABSTRACT FROM AUTHOR]

Missed medical appointments are a common problem across specialties. The discontinuity of care leads to unplanned health care utilization, increased costs, and poor health outcomes. Previous studies evaluating pediatric epilepsy have shown significant socioeconomic barriers to care. In several specialties, resident clinic no-show rates are higher than faculty clinics because of socioeconomic barriers. We sought to understand the relationship between race, socioeconomic factors, and missed appointments in a pediatric neurology resident clinic at a large tertiary care hospital. Resident clinic encounters for 1 year were extracted and analyzed for missed appointments, socioeconomic factors, and health care utilization. We found that missed appointments occur for 1 in 5 patients and correlate with socioeconomic factors (eg, income and insurance) and race. Race was a more significant factor than socioeconomic factors for missed appointments. These results provide areas to target and track interventions to improve health outcomes in children in pediatric neurology clinics. [ABSTRACT FROM AUTHOR]

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. 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. 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. 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. [ABSTRACT FROM AUTHOR]

Introduction: Autism Spectrum Disorder (ASD) is a complex and variable neurodevelopmental condition that affects how individuals perceive and interact with the world around them. Characterized by significant difficulties in social communication and the presence of restrictive and repetitive behaviors, ASD is a disorder that can influence all aspects of a person's life. Purpose: The purpose of this paper is to identify the influence that risk factors can have on the pathogenesis of autism spectrum disorder, through the description of a clinical case. Material and methods: We present the clinical case of a 7-year-old patient admitted to the Pediatric Psychiatry Department at the Clinic of Pediatric Neurology and Psychiatry in Timișoara, exhibiting clinical symptoms indicative of autism spectrum disorder. Results: Given the increasing frequency of this condition and its multiple implications on familial, social, educational, and professional aspects, this article will report on a clinical case diagnosed with autism spectrum disorder, highlighting the implications of risk factors. The patient underwent clinical and paraclinical investigations, psychiatric and psychological evaluations, and received specialized treatment, showing slow but favorable progress over time. Discussions: Understanding the risk factors associated with the pathogenesis of autism spectrum disorder is crucial for early diagnosis and intervention. Risk factors for ASD are diverse, encompassing both genetic and environmental components that impact the clinical presentation and long-term outcomes. Conclusions: Autism Spectrum Disorder (ASD) is a complex and multifactorial condition that requires a comprehensive understanding of the numerous risk factors involved in its pathogenesis. From genetic and hereditary components to prenatal, perinatal, environmental, and biological influences, each of these factors plays a crucial role in determining an individual's susceptibility to ASD. [ABSTRACT FROM AUTHOR]

• Inborn errors of metabolism were identified in 5.4 % of 112 infants with IESS. • Six children were diagnosed with inborn errors of metabolism. • A case was diagnosed with congenital disorder of glycosylation type IIM and IESS with a novel de novo hemizygous missense variant in the SLC35A2. • The higher frequency of inborn errors of metabolism in our study may be related to the higher frequency of consanguineous marriages in Turkey. Infantile epileptic spasm syndrome (IESS), including West syndrome (WS) and infantile spasm (IS), causes a challenging prognosis, particularly when associated with metabolic etiologies. This study, conducted at a tertiary pediatric neurology center, explored the prevalence and clinical features of inborn errors of metabolism in 112 children with IESS over 10 years. Most patients presented with seizures, primarily flexor spasms, and the median age at onset was 5 months. Comprehensive clinical evaluation and neuroimaging revealed structural-acquired causes as the most common etiology. Notably, inborn errors of metabolism were identified in 5.4 % of cases, with six distinct diagnoses including nonketotic hyperglycinemia, pyridoxine-dependent epilepsy, primary coenzyme Q10 deficiency 7, congenital disorder of glycosylation type IIM, 6-pyruvoyl tetrahydrobiopterin synthase deficiency, and argininosuccinate lyase deficiency. The prevalence of inborn errors of metabolism in this cohort was consistent with global variations reported in the literature. Genetic testing, including karyotype analysis and whole exome sequencing, was performed in a subset of cases with no clear diagnosis, revealing abnormalities in approximately 50 % of cases. Adrenocorticotropic hormone emerged as the most frequently prescribed antiseizure medication. This study provides insight into the diagnostic challenges associated with IESS and highlights the importance of metabolic investigations, especially in cases without a clear etiology. The findings emphasize the need for further genetic and metabolic studies to enhance prognostic accuracy and guide potential treatment options for children with IESS, particularly in populations with high rates of consanguinity. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

ABSTRACT Background Cerebral palsy (CP) is a common neurodevelopmental disorder characterized by impaired mobility and posture caused by brain injury or abnormal development. CP relates to a variety of neurological mechanisms and pathways that impact the type and severity of motor disability, as well as comorbidities. The heterogeneity in clinical phenotype, pathogenesis, and etiology poses significant challenges for effective therapeutic intervention. Objectives The review aims to provide a comprehensive analysis of the neurobiological mechanisms underlying CP and evaluate current and prospective therapeutic strategies, highlighting the necessity for targeted interventions to address the disorder's multifaceted nature. Methods A thorough literature review was conducted, focusing on studies published in peer‐reviewed journals that explore the pathophysiological mechanisms, clinical interventions, and therapeutic strategies for CP. Results The pathogenesis of CP involves a complex interplay of genetic, environmental, and perinatal factors leading to brain injury. Inflammatory processes, oxidative stress, and excitotoxicity are critical in CP development. Current therapeutic approaches primarily focus on symptom management through physical and occupational therapy, as well as pharmacological interventions. Emerging therapies, including anti‐inflammatory agents, antioxidants, and neuroprotective and neurotrophic agents, show potential but require further validation. Notably, although steroids provide anti‐inflammatory benefits, their use in pediatric patients raises concerns regarding long‐term adverse effects such as osteoporosis. Conclusion Despite advances in understanding CP's neurobiological underpinnings, effective therapeutic targets remain elusive. A comprehensive approach addressing CP's heterogeneity is essential. Future research should emphasize in‐depth evaluations of the efficacy and safety of therapeutic agents, particularly in pediatric populations, to develop targeted and effective treatments for CP.

BackgroundTadpole pupil is a rare phenomenon characterized by a brief and irregular deformation of the pupil caused by segmental contraction of the iris dilator muscle. It is most prevalent in adult women and is, in these cases, often associated with migraine.Case presentationWe present a unique case of a 16-year-old girl who presented with recurrent episodes of tadpole pupil and vestibular migraine. This association has not been previously demonstrated in pediatric patients. During a thorough clinical examination, a thyroid carcinoma was found which due to its localization was not causative of the tadpole pupil and was considered an incidental finding.ConclusionsThe association between migraine and tadpole pupil in this patient, which has not previously been described in pediatric patients, adds to the demographics of tadpole pupil. A possible pathophysiological link between the two conditions is discussed but further research is needed to understand the pathophysiology underpinning it.

The progress of developmental research demands reliable measurement techniques, yet inconsistency persist across laboratories, subfields, and settings. To address this, the NIH Toolbox for Neurological and Behavioral Function (NIHTB)® has been extended to create a universal assessment for developmental and pediatric communities: The NIH Infant and Toddler ("Baby") Toolbox. Currently undergoing norming in a sample of 2550 children demographically representative of the 2020 U.S. census, the Baby Toolbox is slated for release in late 2024. This paper introduces the Baby Toolbox, details its objectives, development, and technological innovations, describes plans for reliability and norming, and invites researchers to consider the Baby Toolbox in the future studies. Ultimately, this initiative stands to enhance cross‐study comparability and advance comprehensive developmental evaluation. [ABSTRACT FROM AUTHOR]

Jean François Marie Aicardi, a renowned pediatric neurologist and epileptologist, was born in France in 1926. He made significant contributions to the field of pediatric neurology, including the discovery of Aicardi syndrome and Aicardi-Goutières syndrome. Aicardi's research also led to advancements in understanding conditions like Rett syndrome and epilepsy. Throughout his career, he received numerous awards and published extensively, leaving a lasting impact on the field of neurology. Aicardi passed away in 2015, leaving behind a legacy of groundbreaking discoveries and dedication to his work. [Extracted from the article]

An introduction is presented in which the editor discusses articles in the evolution of functional neurological disorder (FND), tracing its history from its early association with hysteria to its current classification.

Abstract 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.

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. [ABSTRACT FROM AUTHOR]