Myasthenia gravis (MG) is a rare autoimmune disease in which immunoglobulin G autoantibodies targeting post-synaptic receptors at neuromuscular junction play a central role. Due to recent therapeutic developments, there is a need to update current guidelines. FILNEMUS (the French network for rare neuromuscular diseases) conducted a survey in neurologists treating patients with MG to better understand the current clinical and therapeutic management of MG and to identify difficulties and unmet needs. The 45-questions survey assessed various aspects of MG management: including characteristics of neurologists and their patients, the treatments prescribed, and potential areas to improve MG management. Between the 21st of April and the 22nd of August 2022, 2,535 neurologists (90.4%) of the 2,792 registered in France (in 2022) were asked to participate. Finally, 321 complete the survey and were analysed. These population constitute a representative population of neurologists with all French regions and types of medical institutions represented. The survey found that 73.2% of patients with MG are treated by neurologists working in hospitals. Regarding treatment, most neurologists (96.9%) prescribed a cholinesterase inhibitor as first-line treatment most often combined with a corticosteroid (69.1%) or with a non-steroidal immunosuppressant (66.0%). Neurologists working in reference hospital centres tended to prescribe more corticosteroids as first-line treatment for ocular MG and as early disease-modifying treatment for generalized MG. Neurologists identified several aspects of MG management that needed to be improved, including the diagnosis of atypical types of MG, the transfer of patient information from neurologists to general practitioners, the need to optimise existing therapies (improve tolerance and effectiveness), continual medical education for neurologists, as well as the need for improved therapeutic patient education. Our survey shows that evidence from the neurologists' perspective can provide valuable insight into the management of patients with MG and can identify unmet clinical and therapeutics needs.
Migraine, a disabling neurological disorder, poses a significant global burden, especially among women of reproductive age. In India, inconsistent diagnoses and the underutilization of evidence-based therapies present substantial challenges. This study evaluated the knowledge, attitudes, and practices of general neurologists and headache experts in India regarding migraine diagnosis and treatment, identifying barriers and opportunities for improvement in clinical care. A cross-sectional online survey was conducted among 137 clinicians in India (125 general neurologists and 12 headache experts). The questionnaire assessed diagnostic approaches, preferences for pharmacological and non-pharmacological treatments, utilization of guidelines, and readiness to adopt novel therapies. Data were analyzed using descriptive statistics. Headache experts reported a higher patient burden, with 9 (75.00%) seeing 25 or more headache patients per week, compared to 39 (31.2%) general neurologists. Migraines comprised over 50% of cases for 7 (58.33%) of the experts. The use of International Classification of Headache Disorders (3 rd edition) criteria was markedly higher among headache experts (91.67% vs. 38.71%), as was the Migraine Disability Assessment (66.67% vs. 24.20%). Nonsteroidal anti-inflammatory drugs and triptans were the most commonly prescribed therapies. Although triptans provided only moderate relief for most patients, newer agents, such as ditans, were rarely used (0-20%). Nonpharmacological interventions were widely adopted, with approximately 90% usage in both groups. Barriers included limited diagnostic standardization, therapeutic inertia, low familiarity with newer agents, and operational challenges such as time constraints. Both general neurologists and headache experts acknowledge the burden of migraine and practice holistic management. However, gaps remain in standardized diagnosis, optimal triptan use, and the adoption of novel therapies. Enhancing clinician education, promoting validated diagnostic tools, developing expert consensus, and increasing community awareness are crucial to optimizing outcomes and reducing therapeutic inertia.
Persistent postural-perceptual dizziness (PPPD) is characterized by maladaptive central sensory processing and frequent psychiatric comorbidity. Prospective outcome data, particularly from low- and middle-income settings, remain limited. This study evaluated clinical characteristics, psychiatric comorbidity, objective balance findings, and treatment response in patients with PPPD, with emphasis on neurologist-delivered diagnostic explanation within a multimodal treatment framework. Seventy-five consecutive patients fulfilling Bárány Society criteria for PPPD were prospectively assessed using the Dizziness Handicap Inventory (DHI), Patient Health Questionnaire-9 (PHQ-9), Generalized Anxiety Disorder-7 (GAD-7), and Balance Rehabilitation Unit posturography. All patients received structured, neurologist-delivered diagnostic explanation and education. Treatment consisted of vestibular rehabilitation and cognitive behavioral therapy for all patients, with low-dose antidepressant therapy prescribed when PHQ-9 or GAD-7 scores were ≥ 5. Outcomes were reassessed at 3 months. Psychiatric comorbidity was present in 88% of patients, most commonly combined anxiety and depression. Despite moderate to severe subjective disability, objective balance measures were largely normal, demonstrating a characteristic subjective-objective dissociation. Following treatment, median DHI scores improved from 40.4 to 8.0, PHQ-9 from 8.0 to 0.0, and GAD-7 from 8.0 to 0.0 (all p < 0.001). PPPD is associated with high psychiatric comorbidity and marked subjective-objective dissociation yet shows substantial 3-month clinical improvement with a structured multimodal treatment approach. Structured diagnostic explanation and education may facilitate treatment engagement and recovery.
Polyneuropathies are common and often require specialist expertise for accurate diagnosis. This study evaluated the diagnostic performance of ChatGPT-4o on real-world polyneuropathy cases, comparing it to peripheral neuropathy specialists and non-specialist neurologists. One hundred cases were selected from two tertiary centers in Milan, Italy. Standardized summaries included clinical, laboratory, and electrophysiological data. ChatGPT-4o was prompted to provide a leading diagnosis, two differentials, and a confirmatory test. Neurologists reviewed the same cases and generated comparable outputs, then could revise their responses after viewing ChatGPT-4o's suggestions. ChatGPT-4o achieved 65.5% leading diagnosis accuracy, comparable to non-specialists (63.0%) but lower than specialists (74.0%, p = 0.002). For differential diagnoses, it outperformed non-specialists (82.0% vs. 77.5%, p = 0.043) and recommended more appropriate tests (68.0% vs. 53.0%, p < 0.001). After reviewing ChatGPT-4o outputs, non-specialists revised their assessments in 21.8% of cases, improving accuracy. ChatGPT-4o shows potential as a diagnostic aid, particularly in non-specialist or resource-limited settings.
This article focuses on the work of the Swiss physician Édouard Claparède (1873-1940), who made significant contributions to basic and clinical neuroscience; comparative and developmental psychology; and, most notably, functional education, which he sought to ground in the principles of the experimental sciences. Claparède championed the value of evidence, rejecting metaphysics and the authority of dogma. Several concepts later introduced in ontogenetic and educational psychology by his pupil Jean Piaget (1896-1980) were inspired by Claparède's earlier writings. Much of this work took place at the Jean-Jacques Rousseau Institute, which was eventually incorporated into the University of Geneva. The ideas of Claparède and Piaget reshaped the relationship between psychology and education, and their theories on cognitive development continue to inform pedagogical innovation and instructional practice.
In low- and middle-income country settings, effective post-stroke self-care depends not only on medical management but also on how recurrence risk, long-term management, and rehabilitation are communicated within resource-constrained settings. This study explored how neurologists, stroke survivors, and caregivers conceptualize and negotiate post-stroke self-care, focusing on communication gaps, health literacy, and structural constraints influencing self-management practices. A qualitative study using an interpretive descriptive approach was conducted at a tertiary neurosciences center in Bengaluru, India. In-depth interviews were undertaken with 25 stroke survivors, 25 caregivers, and 3 neurologists (n = 53). Interview guides were informed by risk communication concepts, WHO Self-Care Framework and Taxonomy of Everyday Self-Management Strategies. Reflexive thematic analysis examined how post-stroke self-care, recurrence risk, and long-term preventive care were interpreted and negotiated within routine outpatient settings. Three interrelated themes emerged: divergent understandings of post-stroke self-care, communication gaps and contextual barriers, and enabling mechanisms for sustained self-management. Neurologists framed self-care primarily in biomedical terms, emphasizing medication adherence, risk-factor control, and follow-up monitoring. In contrast, survivors perceived recovery as symptom improvement and functional independence, leading to diminished perceived need for sustained preventive care. Divergences indicated gaps in recurrence-risk communication, reinforcement of long-term adherence, and integration of psychosocial counseling. Financial hardship, limited insurance coverage, and low health literacy constrained treatment and follow-up. Caregivers reported limited structured education and relied on informal or digital sources to supplement information. In resource-constrained settings, sustained post-stroke self-care depends not only on biomedical advice, but also on how recurrence risk, long-term adherence, and preventive responsibility are understood, reinforced, and negotiated during follow-up care. The findings support embedding structured risk communication, and caregiver-inclusive counseling within routine stroke follow-up. System-level strategies such as standardized discharge counseling protocols and task-sharing with trained support staff may strengthen continuity of care, and long-term outcomes in post-stroke self-care.
Stroke is the fourth leading cause of death in South Korea and shows substantial regional variation in mortality. Although timely medical care can reduce premature death and disability, few studies have examined hospital-level factors associated with stroke outcomes. This study aimed to identify hospital-level factors associated with acute stroke mortality and to determine optimal resource levels for high-quality care. This nationwide retrospective cohort study analyzed patients with acute stroke in South Korea from 2018 to 2020 using the National Health Insurance System claims database and Medical Resource Report data. The outcome was all-cause mortality within 30 days of admission. Individual-level variables included sociodemographic characteristics, the Charlson Comorbidity Index, and the Stroke Severity Index. Hospital-level variables included the number of beds, specialists, neurologists/neurosurgeons, and nurses, as well as accreditation level and stroke center designation status. Hierarchical logistic regression using generalized linear mixed models and change-point analysis were used to determine optimal resource thresholds. Change-point analysis identified critical thresholds associated with reduced mortality: 600 hospital beds, 25 specialists, 8 neurologists and neurosurgeons, and 540 nurses. Multilevel analysis showed that patients treated in hospitals with fewer than 600 beds (odds ratio [OR], 1.128; p=0.0129), fewer than 8 neurologists and neurosurgeons (OR, 1.151; p<0.0001), and no stroke intervention capacity (OR, 1.052; p<0.0001) had a significantly higher risk of 30-day mortality. The identified thresholds provide baseline data that may guide development of medical systems tailored to local characteristics and support the timely delivery of high-quality medical services. These findings suggest that each HSA should include hospitals that meet minimum resource standards to improve stroke outcomes.
Chat Generative Pre-trained Transformer (ChatGPT) is increasingly used for medical education and healthcare counseling. To evaluate the reliability, quality, usefulness, and readability of ChatGPT-4o responses to professional medical quizzes and patient frequently asked questions (FAQs) about Parkinson's disease (PD). Twenty-two quizzes were put into ChatGPT-4o and also given to two neurologists. ChatGPT answers to 20 FAQs were analyzed by three neurologists using the modified Discern score, the Global Quality score, and the Usefulness score. Text readability was assessed using the Flesch-Kincaid Reading Grade Level, the Flesch Reading Ease Score, and the Simple Measure of Gobbledygook. The agreement between the neurologists and ChatGPT was fair. The  answers to the FAQs were of good quality, but unreliable and difficult to read. ChatGPT may be an additional valid tool for professional medical education. The quality of the answers to the FAQs is good, but the text is aimed primarily at highly educated individuals. The readability and reliability of the output would likely improve by providing the chatbot with specific prompts.
The increasing reliance on mobile internet for health information necessitates a critical evaluation of content quality. This study aimed to systematically assess the quality of Alzheimer's Disease (AD) treatment-related short videos on TikTok, a leading platform for health information dissemination. A total of 100 CE treatment videos from TikTok, retrieved on December 20, 2025, were comprehensively evaluated using established assessment tools. Specifically, the Journal of American Medical Association (JAMA) benchmark criteriaand themodified Decision-making Information Support Criteria for Evaluating the Reliability of Non-randomised Studies (mDIS) scorewere used to evaluate thereliabilityof the video content. TheGlobal Quality Score (GQS) was used to assess theoverall quality, and the Patient Education Materials Assessment Tool for Audio Visual Content (PEMAT-A/U)was used to evaluate understandability and actionability. Neurologists were identified as primary contributors of high-quality content, while videos on experimental treatments like deep cervical lymphovenous anastomosis (LVA) generally exhibited lower quality. Videos from emerging first-tier cities and those uploaded by top-tier creators demonstrated superior audience engagement and often higher content quality. A significant positive correlation was found between video duration, audience engagement metrics, and content quality scores. Neurologists play a crucial role in providing reliable AD treatment information on short video platforms. There is an urgent need to improve the quality of content on experimental treatments and to encourage longer, well-referenced videos. Platforms should enhance content moderation and explicitly label experimental therapies to ensure accurate and trustworthy public health education regarding AD.
The Narrative Summary (NARSUM) authored by the referring physician is the clinical basis for the Integrated Disability Evaluation System (IDES) and impacts Physical Evaluation Board (PEB) determinations of fitness, disability rating, and disposition for soldiers undergoing Medical Evaluation Board (MEB) review. Neurological conditions-post-traumatic epilepsy, residual traumatic brain injury, migraine and post-traumatic headache, multiple sclerosis, and peripheral neuropathy-account for a substantial share of MEB referrals in the active and reserve component Army, but there is no published consolidated, neurology-specific framework for NARSUM construction in the military medicine literature. This commentary offers a practical framework for battalion surgeons, general medical officers, military primary care physicians, and military neurologists at Role 1, Role 2, and military treatment facility levels. The framework is offered as documentation guidance, based on operational experience and the current peer-reviewed literature on military neurological morbidity. The commentary starts with documentation of the pertinent neurological examination and supporting diagnostic studies. It then presents an 8-element NARSUM scaffold: diagnostic precision, temporal documentation, treatment documentation, functional impact tied to military duties and service fitness testing, prognosis, service connection and Line of Duty, driving and safety restrictions, and cognitive and medication side effects. Next, we will combine the discussion of special populations including Army National Guard and Army Reserve soldiers, soldiers on the Temporary Disability Retired List, and soldiers approaching retirement eligibility. Reasonable next steps for military medical policy are a standardized neurology NARSUM template and a formal neurology consultation pathway at installations without a neurologist.
Sleep-wake problems and sleep-related disorders, which are common attributes of neurological diseases, often remain under-recognized and under-treated. Insufficient education in sleep medicine might contribute to this gap. The Sleep Medicine Section of the Japanese Society of Neurology conducted a nationwide, web-based survey of its full-member physicians (N ‍= ‍9,703), assessing neurologists' education, clinical practice, and interest in sleep medicine. Of the 904 survey participants, only 10% considered their undergraduate education on sleep-wake problems and sleep-related disorders as adequate, whereas 86% rated it as insufficient. Furthermore, nearly 90% of the participants recognized the importance of these education gaps in neurological practice, and more than 90% expressed a desire for further education. Regarding clinical management, fewer than 5% felt confident and 15% expressed anxiety or a tendency to avoid such cases. Approximately 87% reported encountering such problems and disorders in clinical practice, and 47% reported managing them at least weekly. Insomnia, circadian rhythm sleep-wake disorders, and hypersomnia were considered the most difficult to treat. Respondents showed strong interest in lectures and on-demand webinars on rapid eye movement sleep behavior disorder (71.1%), restless legs syndrome (62.3%), and the relationship between sleep-wake problems or sleep-related disorders and neurodegenerative diseases (77.1%) or dementia (68.3%). Although the importance of sleep-wake problems and sleep-related disorders and additional educational opportunities are well-recognized, confidence in diagnosis and treatment remained low. This survey revealed an unmet clinical need in sleep medicine among Japanese neurologists, underscoring the importance of structured, accessible education at undergraduate and postgraduate levels.
Headache, dizziness and vertigo are non-specific but frequently reported symptoms in patients with hypertension. When evaluating headache, clinicians must systematically exclude primary headache disorders - such as migraine, tension-type headache and trigeminal autonomic cephalalgias - before attributing symptoms to hypertension. If a primary headache is suspected, referral to a neurologist is essential for specialized management. Hypertension-related headache must fulfil specific diagnostic criteria, including a high blood pressure level (≥180/120mmHg), a demonstrated causal relationship through temporal association and symptom relief following antihypertensive treatment. Whereas severe hypertension combined with headache (e.g. malignant or accelerated hypertension, grade 3 or 4 hypertensive retinopathy) requires urgent attention, the long-term prognosis of patients with recurrent symptoms does not appear to be negatively impacted. Dizziness, often described as lightheadedness, unsteadiness or a floating sensation, must be distinguished from vertigo, which is characterized by an illusion of movement, typically rotatory. In patients with hypertension, vertigo necessitates a thorough evaluation to rule out neurological and vestibular aetiologies, in collaboration with neurologists and ear, nose and throat specialists. These patients require meticulous blood pressure monitoring because of their increased risk of cardiovascular death, particularly from stroke.
Despite the existence of several regional registries in the United Kingdom, gaps in geographic coverage have limited the ability to produce accurate national estimates of incidence, prevalence, and regional variation for motor neuron disease (MND). To address these challenges, a comprehensive national register encompassing England, Wales, and Northern Ireland was established to support epidemiological studies, health care planning, and clinical research. The primary objective of the MND Register is to provide a centralized research database aggregating clinical and demographic data to facilitate high-quality research. Secondary objectives include estimating disease incidence and prevalence, identifying regional differences in care and survival, evaluating potential disease clustering, and supporting data linkage and clinical trial recruitment. Eligible patients are those aged 16 years or older with a confirmed MND diagnosis made by a consultant neurologist. Data are collected prospectively and retrospectively through standardized templates, available via Microsoft Access, Microsoft Excel, or the REDCap (Research Electronic Data Capture; Vanderbilt University) web platform, and include up to 34 demographic and clinical variables. Additional self-reported data can be contributed through the Telehealth in MND-Research platform. All data are securely stored in the King's College London Trusted Research Environment, undergo standardized preprocessing, and may be linked to National Health Service and national datasets for epidemiological analyses. The register includes data on over 11,000 individuals with MND, of whom nearly 7000 are currently alive. Postcode data are available for more than 4300 patients, enabling future geospatial analyses. By October 2025, 60 clinical sites were participating in the register, with around 50 actively submitting data. The MND Register represents one of the largest national registries for MND worldwide, providing a robust foundation for epidemiological modeling, clinical research, and health care planning. Ongoing efforts to expand prospective data collection, improve completeness, and integrate digital tools will further enhance its impact and support national and international MND research collaborations.
Joubert syndrome (JS) is a rare, predominantly autosomal recessive neurodevelopmental disorder characterized by hypotonia, motor delay, intellectual disability, oculomotor apraxia, and the hallmark "molar tooth sign" on axial view of MRI. JS is genetically heterogeneous, with pathogenic variants identified in more than 40 genes involved in primary cilia function. Among these, CEP290 is one of the most frequently mutated genes. In this study, we investigated two children-an 11-year-old boy (the proband) and his 5-year-old sister-both presenting with a similar phenotype consistent with JS. The parents, who self-identified as Chechen, reported distant consanguinity. The family also included a healthy 13-year-old daughter. The proband had previously been evaluated by a neurologist and underwent whole-genome sequencing (WGS); however, no causative variants were identified initially. After phenotype reassessment by a clinical geneticist, we performed a reanalysis of the raw WGS data and identified a novel homozygous intronic variant of uncertain significance (VUS), c.1910-15_1910-11delinsTTACA in CEP290 (NM_025114.4). Sanger sequencing confirmed that both the proband and his affected sister were homozygous for this variant, which they inherited from their heterozygous parents. Their healthy sister did not carry the variant. mRNA-sequencing and targeted cDNA sequencing (read depth ~ 100,000x) demonstrated that this intronic variant causes completely aberrant splicing of CEP290 pre-mRNA. Predominantly this variant causes the skipping of exon 20 in the main CEP290 transcript. Alternatively, the variant results in partial inclusion of intron 19 into the mRNA, elongation of exon 20 by 58 nucleotides, and a homozygous substitution chr12:88114573 (ACTGTGTA> TTACAGTA). No canonical mRNA isoform was detected when the variant was homozygous. Both the predicted severe truncation and the likely degradation of aberrant transcripts through nonsense-mediated decay (NMD) would correspond to complete loss of CEP290 function. Following the reclassification of this VUS to likely pathogenic, the family was able to pursue in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disorders (PGT-M). Our study highlights the critical importance of proper phenotyping prior to referral for WES/WGS as well as of combining NGS with functional mRNA studies to achieve a molecular diagnosis for patients with predicted splice-site mutations in JS-associated genes. It also emphasizes the need for functional reassessment of VUS when genomic data are expected to guide reproductive decision-making within affected families.
Background: Spasticity is a common and disabling symptom of multiple sclerosis (MS), yet its assessment remains challenging. Clinical scales such as the Ashworth Scale (AS) evaluate resistance to passive movement, whereas neurophysiological measures (e.g., H-reflex, F-wave) provide objective indices of α-motoneuron excitability but correlate inconsistently with clinical severity. Real-time ultrasound elastography (RTE) enables semi-quantitative, in vivo assessment of muscle stiffness, while the recently introduced Muscle Elastography Multiple Sclerosis Score (MEMSs) aims to classify muscle spasticity in MS. Objective: To evaluate the utility of RTE using MEMSs for the objective assessment of muscle status in MS patients with spasticity, and to compare elastographic findings with clinical and neurophysiological measures. Methods: In this single-center study, 26 MS patients (diagnosed according to the 2017 McDonald criteria) and age- and sex-matched healthy controls (n = 27) were enrolled. Spasticity was graded using the AS. All participants underwent bilateral RTE of the gastrocnemius muscle, with images independently scored by two blinded neurologists using the 5-point MEMSs scale. Neurophysiological assessment included the soleus H-reflex, with calculation of H/M ratios. Correlations were analyzed using Pearson's coefficient, and inter-observer reliability was assessed. Results: No consistent or statistically robust associations were found between clinical spasticity severity (AS scores) and either neurophysiological or elastographic parameters. Several MEMSs did not correlate reliably with AS grades, and neurophysiological measures showed limited discriminatory ability between MS patients and healthy controls. Correlations between neurophysiological and elastography parameters were weak to moderate (ρ ranging from -0.49 to 0.45). Inter-observer reliability of MEMSs scoring ranged from poor to moderate across the examined muscle groups, with Cohen's κ values ranging from -0.02 to 0.54. Conclusions: RTE using MEMSs did not demonstrate sufficient validity or reproducibility for assessing muscle spasticity in MS, showing poor agreement with both clinical and neurophysiological measures.
To ensure Alzheimer's disease-modifying treatments can be initiated in diverse populations, efficient pathways to obtain timely diagnoses are required. This interim sub-analysis of a multicenter US study included cross-sectional surveys and interviews with neurologists at 12 diverse sites to assess real-world lecanemab use. At survey completion, ∼1342 patients had received lecanemab. Most referrals originated from primary care. Amyloid pathology was confirmed primarily by positron emission tomography (58%) or cerebrospinal fluid (35%), with blood-based biomarkers (BBMs) increasingly used to reduce diagnostic delays. All sites performed apolipoprotein E4 (APOE ε4) testing to inform risk/benefit decisions. Infusions usually started within 6 months of diagnosis. Delayed/incomplete referrals were identified as the most significant barrier in the current patient pathway. These findings demonstrate the feasibility of lecanemab integration in diverse clinical settings and highlight the importance of primary care physician engagement, optimization of referral pathways, and expanding BBM use in improving timely diagnosis, equitable access, and early treatment initiation.
This article reviews distinct acquired and congenital etiologies, age-specific and sex-specific risks, and lifelong implications of cerebrovascular conditions in children and young adults. Stroke incidence is rising among younger adults. An increased burden of vascular risk factors, particularly in adults older than 35 years, may play a role, as well as a confluence of underlying predisposing nonatherosclerotic risks and inciting triggers. New data and American Heart Association/American Stroke Association scientific statements are informing antithrombotic management in the setting of cervical artery dissection and cerebral venous thrombosis. Young people with chronic conditions affecting cerebrovascular health, including moyamoya arteriopathy, sickle cell disease, and congenital heart disease, may face accumulating and modulating risks for stroke as they age. Facilitating access to follow-up with specialized multidisciplinary care is important in optimally managing these complex diseases. Stroke in young patients can result from nonatherosclerotic mechanisms such as dissection, arteriopathies, cardiac shunts, or systemic disease. Conventional vascular risk factors play a larger role in stroke risk in patients older than 35 years. Chronic conditions such as sickle cell disease, congenital heart disease, and moyamoya arteriopathy require lifelong cerebrovascular surveillance and individualized risk reduction strategies. Sex-specific factors, including menstruation, contraception, and pregnancy, can complicate management and amplify risks in younger patients, underscoring the need to promote awareness among neurologists who treat cerebrovascular disease in these individuals.
Children with autism spectrum disorders (ASD) require coordinated, multidisciplinary care, yet professional training for healthcare providers in Kazakhstan remains limited. We aimed to develop, pilot, and evaluate a continuing education program to enhance knowledge and skills in ASD detection, management, rehabilitation, and family support. A multidisciplinary team, including public health specialists, neurologists-rehabilitologists, a general practitioner, a psychologist, and parents of children with ASD, designed the program based on a review of national and international continuing education curricula. The program was aligned with Kazakhstan's postgraduate medical education framework and received ethical approval. Pilot training was conducted in Astana with 49 healthcare professionals across two cohorts. Participants' knowledge and skills were assessed before and after training using structured questionnaires measuring diagnostic classification knowledge, understanding of ASD subtypes, multidisciplinary care roles, referral pathways, and family support competencies. The 60-hour program effectively improved participants' knowledge and clinical understanding. Correct identification of ASD in ICD-10 increased from 87.8% to 92.7%, while correct identification in ICD-11 increased from 73.5% to 87.8%; uncertainty regarding ICD-11 classification decreased from 24.5% to 0%. Knowledge of ASD subtypes increased, and recognition of multidisciplinary care leadership rose from 28.6% to 46.3%. Participants also reported enhanced understanding of team roles, referral pathways, and tools for providing psychological support to families, facilitating more effective and timelier ASD care. The pilot program demonstrates that structured, multidisciplinary training can significantly improve healthcare professionals' knowledge and preparedness for managing children with ASD and supporting their families. This approach provides a scalable model for continuing professional development in Kazakhstan and similar settings.
BackgroundGlutamine-fructose-6-phosphate transaminase 1 (GFPT1) gene variants are a known cause of congenital myasthenic syndrome (CMS), typically presenting with fatigable limb-girdle weakness and characteristic tubular aggregates on muscle biopsy, though recent reports have broadened the clinical spectrum.MethodsWe describe a 5-year-old boy presenting with hypotonia, progressive muscle weakness with head drop, cognitive delay, and visual impairment, found on neuromuscular genetic panel to have a novel homozygous missense variant in GFPT1 (c.1154G>A, p.Arg385Gln).ResultsFurther workup revealed white matter abnormalities with atrophy of corpus callosum and cerebellum on neuroimaging, myopathic motor unit potentials on electromyography, and non-specific changes on the left biceps muscle biopsy with absence of tubular aggregates. Stimulated jitter analysis of the right orbicularis oculi muscle showed increased jitter and blocking indicative of neuromuscular junction (NMJ) transmission defect. Trio whole-exome and trio whole-genome sequencing confirmed autosomal recessive GFPT1-related myasthenia.DiscussionThe muscle-eye-brain (MEB) phenotype of our case was like that of alpha-dystroglycanopathy, a glycosylation-related severe congenital muscular dystrophy. The presence of NMJ abnormalities expands the novel GFPT1 variant genotype-phenotype to include central nervous system features and muscle-eye-brain congenital myasthenic syndrome (MEB-CMS). This case study highlights the role of multiple specialists (neurologist, radiologist, ophthalmologist, pathologist, geneticist) and neurodiagnostic techniques (neuroimaging, electrodiagnostic, muscle pathology) to help deep phenotype symptomatic patients with novel gene variants found on next-generation sequencing.
Parkinson's disease (PD) is a progressive neurodegenerative disorder with motor and non-motor symptoms. Sub-Saharan Africa (SSA) with its rapidly rising ageing population is experiencing a surge in the burden of PD in clinical care. Delayed diagnosis and treatment initiation, coupled with socioeconomic and healthcare barriers, may uniquely contribute to the population of PD with advanced clinical disease in SSA. This study aimed to clinically characterize Ghanaian PD patients, and identify predictors of mid-to-advanced disease. A hospital-based cross-sectional study was conducted at Komfo Anokye Teaching Hospital, Ghana (May 2023 - March 2024). Consecutive adults meeting UK Brain Bank criteria for PD diagnosis were neurologist-confirmed and evaluated using structured interviews including Hoehn and Yahr (H&Y) staging, and MDS-UPDRS. Data were analyzed using Graph Pad Prism, with logistic regression identifying predictors of mid-to-advanced PD defined by H&Y stages 3-5. Of 161 participants (mean age 64.0 ± 9.1 years; 114 males), 98 (60.9%) were in early-stage PD (H&Y stages 1-2). Mid-to-advanced stages (H&Y stages 3-5) had higher motor scores (19.9 vs 15.4; p = 0.003) but lower non-motor scores (p < 0.001). Medication use was universal in mid-to-advanced stages vs 42.9% in early stages (p = 0.001). Male patients, those who had lost employment due to PD, and those with moderate UPDRS severity were more likely to have mid-to-advanced disease, whereas higher income and urinary symptoms were less likely. Mixes of socio-demographic and clinical features are associated with mid-to-advanced stages of PD among this Ghanaian sample of PD patients. Integrating socioeconomic determinants into prognostic models may enable earlier identification of patients with mid-to-advanced PD and guide targeted interventions such as social support systems to improve their quality of life in resource-limited settings.