Child Neurology Research Articles

Generalized estimating equations for developmental medicine and child neurology.

Generalized estimating equations for developmental medicine and child neurology.

Child Neurology: Acute Necrotizing Encephalopathy of Childhood Associated With Dengue: Good Neurologic Outcome Despite a Fulminant Presentation.

Acute necrotizing encephalopathy of childhood (ANEC) is characterized by a rapidly progressive encephalopathy after a viral febrile illness, with multiple, symmetrical lesions in the brain including the thalami. Acute dengue fever is a known, but rare, trigger for ANEC. The clinical course of ANEC is usually fulminant and is associated with high morbidity and mortality. We describe here a prospective cohort of 5 children who presented with ANEC associated with dengue infection characterized by encephalopathy within the first week of fever, followed by a rapidly deteriorating sensorium requiring intensive care unit admission. Dengue fever was diagnosed based on a positive nonstructural protein 1 antigen test. ANEC was diagnosed based on characteristic MRI brain findings including the "trilaminar sign" in bilateral thalami combined with clinical features of severe encephalopathy, thrombocytopenia, and transaminitis. All the children required prolonged hospital stay (mean duration 30 days), with 4 of 5 children requiring mechanical ventilation (mean duration 21 days). All the children received immunomodulation with IV methylprednisolone either alone or followed by IV immunoglobulin. Although these children were bedridden at discharge (modified Rankin Scale, mRS score 4 or 5), they showed a consistent recovery in follow-up. At 6 months of follow-up, all the children were fully independent in activities of daily living (mRS scores 1-2). These cases highlight good neurologic outcomes in children with ANEC associated with dengue despite a catastrophic presentation and a protracted hospital course. The most common residual neurologic deficits noted were hand tremors and extrapyramidal dysarthria.

Utility and benefits of Camp for Children with Epilepsy: a retrospective

Objective: The aim of this study was to evaluate the benefits of educational and recreational camping programs for children with epilepsy.Method: A retrospective review of data collected from all children attending annual epilepsy camps organized by the Croatian Epilepsy Association and the Zagreb City Office for Health during 8 years was performed. Children included were between 6 and 18 years of age. The staff of the camp includes child neurologists, a psychologist, neurology nurses and trained volunteers. Educationalactivities are designed to improve children’s knowledge of epilepsy, importance of taking medication, academic choices, suggested employment, and regulations regarding driving laws. These issues were discussed in groups or in single sessions, depending on thecase. Other activities included supervised swimming, team sports, fun activities and games, arts and crafts and entertainment such as disco or movie night.Each of the participants filled out three questionnaires 1. General data questionnaire and pre-camp knowledge test; 2. Camp satisfaction questionnaire and post-camp knowledge test; 3. Questionnaire on adaptation to epilepsy in young people.Results: The analyses of surveys and tests showed that only 75% of children in camp knew that they had epilepsy. In 10% of children, friends and distant family members did not know about epilepsy. Comparing the knowledge test before and after the camp, theaverage percentage of correctly solved tasks on the first test is 65%, and on the second 87%. The answers in the questionnaire on adaptation to life with epilepsy are indicators of strong stigma in children with epilepsy.Conclusions: The main accomplishment of the camp was for children to gain confidence that they can reach their full potential in life and to feel equal to their peers in every aspect of life.

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.

Epilepsy is a chronic neurological disorder related to various etiologies, and the prevalence of active epilepsy is estimated to be between 4 and 10 per 1000 individuals having a significant role in genetic mutations. Next-Generation Sequencing (NGS) panels are utilized for genetic testing, but a substantial proportion of the results remain uncertain and are not considered directly causative of epilepsy. This study aimed to reevaluate pediatric patients diagnosed with epilepsy who underwent genetic investigation using NGS panels, focusing on inconclusive variant findings or multiple variants of uncertain significance (VUSs). A subgroup of pediatric patients aged 0-25 years, diagnosed with epilepsy, who underwent genetic investigation with an NGS epilepsy panel at the Child Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, between 2018 and 2022 through Invitae, was reevaluated. Patients with inconclusive variant findings or multiple VUSs in their test results were included. Genetic data were analyzed to identify potentially pathogenic variants and frequent genetic combinations. Two unrelated potentially pathogenic variants were identified in the SCN9A and QARS1 genes. A frequent genetic combination, RANBP2&RYR3, was also observed among other combinations. The RANBP2 gene consistently co-occurred with RYR3 variants in uncertain results, suggesting potential pathogenicity. Analysis of unaffected parents' data revealed certain combinations inherited from different parents, suggesting specific gene combinations as possible risk factors for the disease. This study highlights the importance of reevaluating genetic data from pediatric epilepsy patients with inconclusive variant findings or multiple VUSs. Identification of potentially pathogenic variants and frequent genetic combinations, such as RANBP2&RYR3, could aid in understanding the genetic basis of epilepsy and identifying potential hotspots. We have performed a retrospective analysis on a subpopulation of pediatric patients diagnosed with epilepsy. We found that specific genetic variants were repeatable, indicating their potential pathogenicity to the disease.

53rd Child Neurology Society Annual Meeting.

53rd Child Neurology Society Annual Meeting.

Evaluation of Smell Function in Patients with Childhood Epilepsy with Centrotemporal Spikes at a Pediatric Neurology Clinic-A Case-Control Study.

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.

Cross-cultural adaptation of the "Questionnaire about Care for People with Duchenne Muscular Dystrophy" to Brazilian Portuguese

Objective: To describe the cross-cultural adaptation of the"Questionnaire about Care for People with Duchenne MuscularDystrophy" to Brazilian Portuguese and our findings about the DMDcare access in a group of 43 patients assisted in an UniversityHospital in Rio de Janeiro.Method: Guidelines for best practice in translation and culturaladaptation were followed. Validation of the adapted questionnairewas verified in a group of 43 patients with Duchenne MuscularDystrophy (DMD) assisted in the Child Neurology Department of auniversity hospital in Rio de Janeiro.Results: Once the questionnaire was cross-adapted into BrazilianPortuguese, information was obtained on disease progression,access to recommended care and difficulties encountered inmaintaining treatment. This allowed comparison with previouslypublished national and international data.Conclusion: The adapted version of the CARE-NMD questionnairefor Brazilian Portuguese has the potential to support the work donein neuromuscular centers and health managers in Brazil. It providesa picture of access to care in our country, and allows exchangingupdated information between Brazilian and internationalneuromuscular centers.

Contemporary issues of the birth trauma

Background. Birth trauma is a group of diseases caused by mechanical factors during childbirth. Birth trauma is an interdisciplinary problem, affecting various fields of medicine, such as obstetrics, pediatrics, child neurology and other sciences. Birth trauma occupies an important place in the structure of perinatal morbidity and mortality. Birth injuries of newborns during vaginal birth occur in 3.6% of cases, during cesarean section — in 1.2%. However, at present, despite a comprehensive study of the problem, the incidence of birth trauma in newborns remains high. Along with obstetric birth trauma, spontaneous birth trauma also occurs — not associated with any obstetric care.Purpose of review. To summarize and analyze the available data on the causes of birth trauma in newborns depending on the type of birth injury.Materials and methods. The review includes published data over the past 10 years regarding the study of the causes of the main types of birth injuries in newborns. The literature search was conducted in Web of Science, Google Scholar, PubMed, and ELibrary databases.Results. The problem of fetal-pelvic disproportion in the genesis of the development of risk factors for maternal-fetal trauma remains relevant. Fetal macrosomia is one of the most significant factors in birth trauma. The most common skull injury in newborns is cephalohematoma. According to the mechanism of occurrence, birth trauma is divided into spontaneous — occurring during physiological childbirth — and obstetric — associated with any obstetric benefits. The degree of configuration of the fetal head plays a significant role in the pathogenesis of birth trauma. Birth trauma is considered as a systemic reaction on the part of the newborn’s body, which leads to a breakdown of compensatory and adaptive mechanisms and the development of critical damage to the central nervous system and is differentiated from birth damage, which includes only local changes.Conclusion. To search for preventive measures aimed at preventing birth injuries in newborns, it is necessary to systematize the groups of causes that influence the increased risk of birth injury. Timely assessment of the pathological configuration of the fetal head is extremely important when deciding on the advisability of using obstetric aids during vaginal operative delivery, since it is an early predictor of the formation of fetal-pelvic disproportion — a significant factor in birth trauma in the newborn. In recent years, taking into account the active study of molecular genetic mechanisms in the genesis of the formation of various pathological conditions, the search for various genetic and epigenetic factors that influence the risk of developing birth traumatic injuries in a newborn against the background of individual susceptibility to the effects of any physical factors during childbirth.

Report from the child neurology education and training workshop at the International Child Neurology Congress 2024: Expert'saddressing the training gap

This report summarizes the key findings of a workshop undertaken at the International Child Neurology Congress in 2024 by child neurologists with expertise in training education and invested colleagues. The workshop aimed to explore global issues which have impact on access to child neurology training. The major findings supported a great need for more training programs globally, that consensus is needed for the minimum standards of training, and that training programs can be strengthened via global health partnerships especially with collaborations from regions with more available resources. The group concurred that the phenomena of ‘neurophobia’ amongst general paediatricians and medical trainees, was a reality, and creates barriers both working with paediatric colleagues, as well as recruiting specialists to the field. Optimal teaching practices for child neurology should include the expansion of learning through global partnerships and virtual educational resources. Measures must be put into place for fledgling training programs, to support colleagues in less resourced settings and to avoid their burn-out. Collegial and collaborative work is essential to support the future of child neurology across the globe, both to reach the current capacity needs but also to meet the necessary growth in the field.

A Review of Hyperventilation Activation in Diagnosis and Management of Childhood Absence Epilepsy.

Childhood absence epilepsy is one of the most prevalent pediatric epilepsy syndromes, but diagnostic delay is common and consequential. Childhood absence epilepsy is diagnosed by history and physical examination including hyperventilation with electroencephalography (EEG) used to confirm the diagnosis. Hyperventilation produces generalized spike-wave discharges on EEG in >90% of patients with childhood absence epilepsy and provokes clinical absence seizures consisting of brief loss of consciousness typically within 90 seconds. Child neurologists report a high volume of referrals for children with "staring spells" that strain already limited health care resources. Resources are further strained by the use of EEG for monitoring antiseizure medication effectiveness with unclear benefit. In this review, we examine the safety and efficacy of hyperventilation activation as a tool for the diagnosis and management of childhood absence seizures.

We Don't Talk About X(Twitter): A Cross-Sectional Analysis of Social Media Utilization Among Neurologists.

Medical professionals use social media for career development, education, clinical outreach, or advocacy. Prior studies estimate that 25% to 65% of health care providers use social media professionally; however, the number of users and platforms are rapidly changing. Therefore, as part of a broader study, we set out to assess platform preferences and social media usage among neurologists. This was a multisite cross-sectional analysis consisting of a REDCap survey of clinicians, residents, and medical students. Faculty, trainees, or clinical year medical students interested in child neurology or adult neurology residency or fellowship programs within the United States were eligible to participate. Recruitment methods were broad to encompass as diverse and extensive participation as possible. Results were analyzed using descriptive statistics. Data are presented according to the STROBE guidelines. Of the 226 neurology respondents, 55% (n = 124) were child neurology and 45% (n = 102) were adult neurology across all career stages, including students. Of the 70% who reported using social media in a professional capacity, the most commonly reported reasons were for networking and collaboration (n = 95, 60%), self-directed medical learning (n = 90, 57%), and brand building and reputation (n = 62, 39%). Twitter and Facebook were the most common and versatile platforms used by neurologists. Medical students had the highest documentation of social media scholarships on their curriculum vitae (37%, P = .016) and the most interest (33%, P = .016) in learning how to document social media scholarships if they were not already. Early faculty shared this interest more than residents, fellows, or mid-late career faculty. In all groups except for mid-late career faculty, a majority of respondents (>75%) showed interest in learning how to leverage social media for career development. Social media is used professionally by a majority of neurologists, most commonly for networking, self-directed learning, and building individual brands. Opportunities exist to better understand platform preferences and ways to optimize their use for various professional activities as well as to provide education on effective professional use of social media including documentation for promotion.

Speech and Language Delay in Children: Child Neurology Experience

Speech and Language Delay in Children: Child Neurology Experience

Guillain-Barrè Syndrome-Retrospective Analysis of Data from a Cohort of Patients Referred to a Tertiary Care Pediatric Neuromuscular Center from 2000 to 2017: Electrophysiological Findings, Outcomes, and a Brief Literature Review.

Background and Objectives: Guillain-Barré syndrome (GBS) is the most frequent cause of acute flaccid paresis in children. The aim of this study was to describe the clinical and electrophysiological findings and outcomes of children with GBS diagnosed in our unit. Moreover, the literature on pediatric GBS cases from the past 5 years was reviewed. In this retrospective study, we reported data on 12 patients (9 male and 3 female patients; mean age: 5 y, 4 mo; range: 9 mo-11 y) clinically diagnosed at the Child Neurology Unit of the AUSL-IRCCS of Reggio Emilia, Italy, between 2000 and 2017 and a brief analysis/comparison with data from the literature. Materials and Methods: Data were collected from medical charts. Results: In our cohort, male patients were more frequent than female ones (9 vs. 3), and upper respiratory tract infection (n = 8, 66.7%) was the most frequent triggering factor. The main clinical symptoms on admission were distal lower limbs' weakness with gait difficulties (83.3%), pain (50%), upper limbs' weakness (50%), and dysphagia for liquids (25%). Peripheral neurophysiological studies revealed acute inflammatory demyelinating polyradiculoneuropathy (AIDP) in 66.6% of the children, acute motor and sensory axonal neuropathy (AMSAN) in 25%, and acute motor axonal neuropathy (AMAN) in 8.3%. Ten individuals (83.3%) received timely treatment with intravenous immunoglobulins (IVIG), and, out of these ten patients, 58% received concomitant treatment with IV methylprednisolone because of a progressive disease course. Complete remission was observed in the majority of individuals (91.6%) within 6 months of symptom onset. Conclusions: Different subtypes of GBS can affect children; however, the outcome is usually positive. Early treatment appears to be important for a favorable outcome.

Analysis of Gender Discrepancies in Leadership Roles and Recognition Awards in the Child Neurology Society.

Gender disparities have been demonstrated across several medical specialties, including neurology. Although women have comprised most of the child neurology trainees since 2007, it is not apparent whether this demographic shift is reflected in the Child Neurology Society (CNS) awards and leadership. This study aimed to evaluate the differences in gender representation among leadership positions and award recipients within the CNS. The primary outcome measure was the total number of board of director (BOD) positions or awards given by gender each year. A retrospective review of publicly available data was conducted on CNS members, post-training award recipients, and BOD positions, including nomination records, from 1972 to 2023. Data abstracted were restricted to gender to preserve member and nominee anonymity. Gender identification and consensus were determined through a combination of strategies and study members. Data analysis included descriptive statistics, Pearson χ2 test, and the exact binomial test to compare gender proportions and the probability of being underrepresented in awards, leadership, and nominations over time. Data are presented according to the Strengthening the Reporting of Observational Studies in Epidemiology guidelines. From 1972 to 2023, women represented 29% (44/152) of the BOD positions and 26% (61/236) of post-training award recipients presented by the CNS. Despite the increase in the proportion of women in child neurology, the overall gap in gender representation in leadership positions remains broadly stable. Only 13% (4/32) of CNS presidents have been women, a significant underrepresentation (95% CI 2.3%-52%, p < 0.004), although the representation of women in nonpresidential positions increased from 2003 to 2023. Women are also underrepresented as overall awardees (95% CI 12%-38%, p < 0.00001) except for the Philip R. Dodge Young Investigator Award, which is an investigator-initiated application. Women remain underrepresented at the highest levels of recognition in child neurology despite representing most of the field. Reasons for disparities are known to be multifactorial and likely include gender bias and structural sexism. We present several discussion topics that seek to rationalize this disparity and provide suggestions for improving diversity, equity, and inclusion for leadership roles and awards.

Time Alone Is Not Enough: An Urgent Need for Active Sponsorship of Women in Child Neurology.

Time Alone Is Not Enough: An Urgent Need for Active Sponsorship of Women in Child Neurology.

Pediatric Neuropalliative Medicine.

Neurological disease in childhood has significant impacts on not only physical well-being, but also on the social, environmental, and emotional health of the child, their family, and the larger community. Pediatric neuropalliative medicine is a recently developed area of subspecialty practice that supports families affected by serious neurological illness in navigating uncertain illness trajectories, refractory symptoms, and the myriad medical decisions that arise over the life of the child. Despite their medical needs, children with neurological diseases live full, joyful, and connected lives with their families, many of whom also experience personal growth and find meaning in their caregiving. Patients and families under the care of neurologists also face many systemic and interpersonal biases, both within the health care system and in the community, and encounter frequent gaps in their home and community-based supports. This chapter summarizes what is known about pediatric neuropalliative medicine and highlights the future research, educational, and clinical innovations that are needed to build more comprehensive and well-prepared systems to address unmet needs. Particularly in the modern era of child neurology practice where disease-modifying treatments are becoming increasingly available, pediatric neuropalliative medicine is an essential area of subspecialty practice that helps to support the personhood and quality of life of the individuals affected by serious illness and their families. As medicine helps more and more children with neurological impairment survive, medical treatment must include not only treatment for the physical body, but also care and support for the complexity of human experience of living with serious illness.

Clinical Features in Boys with Duchenne/Becker Muscular Dystrophy: A Tertiary Center Experience

Background: Dystrophin-related muscular dystrophies are a group of diseases caused by mutations in the dystrophin gene that are inherited in an X-linked recessive manner. Objectives: We aimed to discuss the clinical, laboratory, genetic, treatment, and prognostic features, as well as diagnostic clues, of our DMD/BMD patients. Methods: The medical records of 39 children who were followed up with DMD/BMD diagnoses at Bursa Uludağ University Faculty of Medicine Child Neurology Clinic between August 2018 and September 2023 were evaluated retrospectively. DMD or BMD is diagnosed by genetic testing or muscle biopsy. Results: All patients were male, and the age of symptom onset was 3.44 ± 2.7 years (range: 1 - 12.2 years). Twenty-two cases were symptomatic, presenting with difficulty walking (N = 17), difficulty climbing stairs (N = 14), and getting tired quickly (N = 11). Seventeen cases were initially asymptomatic, identified through elevated CK, AST, and ALT levels. Conclusions: Early recognition that increased serum transaminase and CK levels reflect muscle disease accelerates the diagnosis of underlying conditions and protects patients from unnecessary, invasive, and costly diagnostic testing.

Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States.

In the United States (U.S.), newborn screening (NBS) for spinal muscular atrophy (SMA) is implemented by individual states. There is likely variation in the practice patterns of state NBS programs and among the providers caring for newborns with SMA. This is a prospective, descriptive, observational study that seeks to quantify and describe practice patterns and heterogeneities in state NBS programs and provider practices in the U.S. We surveyed U.S. state NBS programs and care providers of newborns with SMA. Thirty states and 41 practitioners responded. NBS program practices vary by state. Most (74%) state programs provide results to both primary care and specialist providers and also defer confirmatory SMA testing to those providers. Two states had relatively high rates of false-positive or inclusive results. The total birth prevalence of SMA was 1:13,862. Most providers were in tertiary care centers (90%) and were child neurologists (81%) and/or had fellowship training in Neuromuscular Medicine or Electromyography (76%). All providers see new referrals in less than a week, but many do not initiate treatment until >3 weeks of age (39%), with most commonly reported delays related to insurance processes. Most (81%) prefer onasemnogene abeparvovec-xioi (OA) as the treatment of choice, mainly due to perceived efficacy and the route/frequency of administration. NBS practice patterns in the U.S. vary by state but overall yielded the predicted birth prevalence of positive results. Providers evaluate these newborns urgently, but many do not initiate therapy until after 3 weeks of age. Treatment delays are mainly related to insurance processes.

AAN President Awardee Ann Tilton on Career Highlights, Mentorship, and Advances in Child Neurology

AAN President Awardee Ann Tilton on Career Highlights, Mentorship, and Advances in Child Neurology

Research priorities in child neurology: Balancing pragmatism and progress worldwide.

This commentary is on the original article by Cadwgan et al. on pages 1590–1599 of this issue.