Varesio C, Pasca L, Zanaboni MP
… +15 more, Bertoli S, Brancaccio C, Camerini A, Celario M, Granata T, Grumi S, Lodi A, Marini C, Operto F, Quaranta CA, Ragona F, Striano P, Tagliabue A, Veggiotti P, De Giorgis V
BACKGROUND: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1DS) is a rare genetic disorder caused by mutations in the SLC2A1 gene. Core symptoms include epilepsy, movement disorders, and neurocognitive impairment. W...BACKGROUND: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1DS) is a rare genetic disorder caused by mutations in the SLC2A1 gene. Core symptoms include epilepsy, movement disorders, and neurocognitive impairment. While ketogenic dietary therapies remain the gold standard for treatment, challenges persist in ensuring adherence, with varying responses across patients. Limited knowledge exists regarding the broader impact of GLUT1DS on patients and caregivers, highlighting the need for a patient-centered care approach. METHODS: In collaboration with the Italian GLUT1DS Association, a survey was developed to assess Patient-Centered Outcomes, covering demographic data, symptoms, daily life challenges and treatment experiences. The survey was distributed online to patients and caregivers, yielding 83 responses. Data were analyzed using descriptive statistics, t-tests, and chi-square analyses to explore the relationship between core symptoms and broader life impacts. RESULTS: Movement disorders were identified as a major barrier to daily activities, particularly leisure and social engagement. Cognitive impairments were linked to academic struggles, and speech/language impairments, especially dysarthria, emerged as a significant burden. Sleep disturbances were common, with restless sleep in younger patients and excessive daytime sleepiness in older ones. Although ketogenic therapies improved energy and memory, challenges in patient autonomy persisted. Delayed disease awareness and difficulty with educational and occupational transitions were also reported. CONCLUSION: GLUT1DS has a broad impact beyond core symptoms. A comprehensive, multidisciplinary care approach is essential for optimizing quality of life. These findings offer critical insights for refining clinical management strategies and shaping future research on patient-reported outcomes in GLUT1DS.
BACKGROUND: To identify risk factors for poor outcomes in IAE and to guide early diagnosis and intervention. METHODS: We retrospectively collected clinical, laboratory, imaging, treatment, and outcome data of children wi...BACKGROUND: To identify risk factors for poor outcomes in IAE and to guide early diagnosis and intervention. METHODS: We retrospectively collected clinical, laboratory, imaging, treatment, and outcome data of children with IAE. Univariate and survival analyses identified prognostic factors and supported the development of a prediction model. RESULTS: Among 42 children with IAE, 16 (38.1 %) had poor outcomes, including 6 (14.3 %) in-hospital deaths. Poor outcomes were associated with deep coma (75 %), structural brain damage in MRI (86.7 %), and EEG abnormalities (100 %). Univariate analysis revealed that CSF IL-10, CSF pro, blood ALT, AST, CK-MB, and LDL-H were significant discriminators between the good outcome and poor outcome groups (all P < 0.001). Subsequent survival analysis showed AST had the best predictive value, while CK-MB was identified as the only independent risk factor of mortality. A predictive model using optimal cutoffs for AST (>132 IU/L) and CK-MB (>136 IU/L) was developed to stratify patients into good outcome, severe sequelae, and death groups, achieving prediction accuracies of 92.3 %, 100 %, and 66.7 %, respectively. CONCLUSION: Our findings indicate that elevated levels of CSF IL-10, CSF pro, and blood AST, ALT, CK-MB, and LDL-H at admission are significantly associated with poor outcomes in pediatric IAE patients. Specifically, AST ≥132 IU/L and CK-MB ≥136 IU/L may serve as early warning indicators of poor outcomes, highlighting the need for timely recognition and intervention in high-risk patients.
Calandrino A, Battaglini M, Caruggi S
… +13 more, Bonato I, Massirio P, Andreato C, Vinci F, Malova M, Bertamino M, Amadori E, Uccella S, Resaz M, Severino M, Rossi A, Striano P, Ramenghi LA
INTRODUCTION: Seizures are the most frequent initial symptom of perinatal stroke. Apnea, a less commonly recognized neurological presentation, is a cessation of breathing lasting >15 s or shorter if associated with brady...INTRODUCTION: Seizures are the most frequent initial symptom of perinatal stroke. Apnea, a less commonly recognized neurological presentation, is a cessation of breathing lasting >15 s or shorter if associated with bradycardia. This study explores a monocentric cohort of newborns with perinatal stroke, emphasizing the role of Isolated Central Apnea (ICA) as a potential early indicator of cerebrovascular insult. METHODS: A retrospective review was conducted on newborns (≥36 weeks GA) diagnosed with MRI-confirmed perinatal stroke at our institution between March 2019 and March 2024. Infants with hypoxic-ischemic encephalopathy (HIE), congenital infections, meningoencephalitis, sepsis, or intrauterine stroke were excluded. Clinical data, neuroimaging findings, EEG/aEEG characteristics, and antiepileptic drug (AED) were analyzed. RESULTS: Of 421 newborns who underwent brain MRI, 27 (6 %) were diagnosed with perinatal stroke (16 males; median GA 38.5 weeks; mean BW 3137g). Seizures were the presenting symptom in 18 cases (67 %), while 8 cases (30 %) exhibited ICA as the first sign and an MRI revealing 5 arterial strokes (63 %) and 3 venous strokes (37 %). EEG abnormalities were detected in 7/8 (88 %) cases, while brain ultrasound was abnormal in 5/8 (63 %). AED therapy was required in 7/8 (88 %) patients. CONCLUSIONS: ICA is an early sign of neonatal stroke in approximately one-third of cases. These findings underscore the importance of brain MRI in the diagnostic workup of persistent apnea in term and early-term neonates.
Hoogwijs I, Mandelstam SA, McGillivray G
… +20 more, Halliday BJ, Yiu EM, Macdonald-Laurs E, Perry D, Patel R, Gabbett M, Patel C, Malone S, Fahey M, Gill D, Field M, Delatycki MB, Mohammad S, Berkovic SF, Scheffer IE, Lockhart PJ, Jackson GD, Jansen AC, Robertson SP, Leventer RJ
BACKGROUND AND OBJECTIVES: Periventricular nodular heterotopia (PVNH) is a common malformation of cortical development. We describe a distinctive imaging phenotype characterized by bilateral small heterotopic nodules of...BACKGROUND AND OBJECTIVES: Periventricular nodular heterotopia (PVNH) is a common malformation of cortical development. We describe a distinctive imaging phenotype characterized by bilateral small heterotopic nodules of grey matter in the frontal periventricular regions, with an overview of the clinical, imaging, and genetic features. METHODS: Investigators reviewed available brain MRI studies, clinical records and genetic findings of 32 individuals with bilateral frontal PVNH, ascertained from multiple centres between 1996 and 2021. RESULTS: The imaging phenotype consists of multiple, small, bilateral nodules of PVNH maximal along the frontal horns of the lateral ventricles. Frontal PVNH was associated with heterogeneous, often subtle, additional brain malformations in 72 % (23/32) individuals. The clinical phenotype was variable and included mild focal epilepsy in 7/32 and mild-moderate cognitive impairment or developmental delay in 13/32. Microarray was normal in 13/16 and exome or genome sequencing normal in 8/13 where testing was performed. A genetic diagnosis was achieved in seven patients; pathogenic chromosome deletions of 7q11.23 and 7p22.1, pathogenic intragenic variants in KANSL1, STXBP1 and MAP1B (mother-daughter pair), and a combined 13q12.12 deletion (containing SACS) and an intragenic SACS variant. DISCUSSION: Bilateral frontal PVNH has a variable clinical phenotype, but generally milder sequelae than other forms of bilateral PVNH. A genetic diagnosis was made by chromosome microarray alone in 13 % or by exome or genome sequencing in 38 % where access to testing was available, with no recurrent genetic cause being found. Our PVNH cohort data suggest that PVNH could be classified in three main groups: FLNA-associated "classic" bilateral frontocentral PVNH, posterior/infrasylvian PVNH and this third pattern of bilateral frontal PVNH, accounting for ∼10 % of all cases of PVNH.
OBJECTIVE: To identify key prognostic factors and develop a predictive model for poor-prognosis forms of pediatric-onset multiple sclerosis (POMS) in a French cohort. METHODS: Between 2000 and 2017, 70 children with POMS...OBJECTIVE: To identify key prognostic factors and develop a predictive model for poor-prognosis forms of pediatric-onset multiple sclerosis (POMS) in a French cohort. METHODS: Between 2000 and 2017, 70 children with POMS were included. Severe disease was defined as ≥3 relapses and/or a final Expanded Disability Status Scale (EDSS) score above 0. Because EDSS may underestimate disability in children, a sensitivity analysis was performed using ≥3 relapses alone to define severity. Clinical, biological, and radiological characteristics were compared between severe and non-severe cases to identify prognostic factors and construct a predictive model. RESULTS: At the last follow-up, 49 of 70 patients (70 %) were classified as having severe POMS. Using the alternative definition based solely on relapse count, 32 patients (46 %) were considered severe. The main prognostic factors-shorter interval between the first two relapses, older age at onset, and higher lesion load on initial MRI-were consistent across both definitions, confirming the robustness of the model. The final predictive model included time between the first two attacks, age, sex, number of juxtacortical lesions, and CSF pleocytosis. The prognostic tree achieved a specificity of 89 % and 84 %, and a sensitivity of 76 % and 68 % under the two respective definitions. CONCLUSION: Specific clinical and radiological markers may allow early identification of severe POMS. Based on these markers, we developed a predictive model that could help identify high-risk patients and guide early, individualized treatment strategies. Validation in an independent cohort is warranted to confirm its clinical applicability.
Masnada S, De Giorgis V, Carugo U
… +16 more, Bahi-Buisson N, Cavallin M, Corbett M, Formica M, Gecz J, Petros N, Perucca E, Pichiecchio A, Fusar Poli P, Sherr EH, Van den Veyver IB, Zara F, Geroldinger M, Veggiotti P, Arzimanoglou A, Aicardi Syndrome Study Group
BACKGROUND AND OBJECTIVES: Aicardi syndrome (AIC) is a rare neurodevelopmental disorder historically characterised by the presence of chorioretinal lacunae, corpus callosum agenesis, infantile spasms and several supporti...BACKGROUND AND OBJECTIVES: Aicardi syndrome (AIC) is a rare neurodevelopmental disorder historically characterised by the presence of chorioretinal lacunae, corpus callosum agenesis, infantile spasms and several supporting features that aid in diagnosis. However, the unclear aetiology and evolving diagnostic tools have led to ongoing reconsideration of the criteria, based on individual approaches. Our study aimed to establish, for the first time, an expert-based consensus on diagnostic criteria for AIC by integrating both existing and novel ones. METHODS: A geographically diverse and multidisciplinary group of expert physicians was invited to participate in a modified Delphi study, to achieve consensus on major, supportive and alert diagnostic criteria applicable in clinical practice. Heterogeneity of available data, due to the rarity of the disease, we deliberately did not design the study to produce a fixed diagnostic algorithm. RESULTS: A total of 55 clinical experts participated in the Delphi study. The study found consensus on the historical triad of symptoms, while also introducing new major criteria: the coexistence of multiple cerebral malformations in a single patient, alongside cognitive impairment. The panel also identified additional supportive features and categorized infrequently reported, non-pathognomonic signs as alert criteria such as red flags that could prompt reconsideration of the diagnosis. DISCUSSION: The Delphi method successfully achieved a consensus on diagnostic criteria for AIC based on expert opinion. However, inherent limitations include the ultra-rare nature of AIC, variability in clinical experience among panellists, and uneven geographical representation, which may affect generalizability. The study emphasizes the need for ongoing research to validate and refine these criteria, particularly in light of advances in genetic and neurological knowledge. Given the unresolved aetiology of AIC, regular updates and enrichment of the diagnostic criteria remain essential, alongside the need to collect further evidence to support the development of a diagnostic algorithm.
BACKGROUND: Episodic neurologic disorders, such as paroxysmal torticollis, paroxysmal tonic upward gaze deviation, migraine, and episodic ataxia, represent a diagnostic challenge in paediatric patients. Variants in the C...BACKGROUND: Episodic neurologic disorders, such as paroxysmal torticollis, paroxysmal tonic upward gaze deviation, migraine, and episodic ataxia, represent a diagnostic challenge in paediatric patients. Variants in the CACNA1A and other genes such SCN8A and DEPDC5, have been implicated in episodic ataxia, hemiplegic migraine, and related conditions. However, the diagnostic yield of CACNA1A testing in paediatric populations with these symptoms remains uncertain. METHODS: We conducted a retrospective study at Hospital Sant Joan de Déu, Barcelona, analysing 32 paediatric patients with episodic neurologic disorders. Clinical evaluation, neuroimaging, video EEG, and genetic testing were performed. Clinical and genetic data were correlated to identify predictors of pathogenic variants. RESULTS: The cohort included 32 patients (21 females), with a mean age at symptom onset of 1.3 years. Paroxysmal torticollis (12/32) and paroxysmal tonic upgaze deviation (9/32) were the most frequent initial symptoms. Pathogenic variants were identified in 6/32 patients, of whom 2 carried CACNA1A variants. Positive genetic findings were significantly associated with developmental delay (p = 0.0056) and paroxysmal tonic upgaze deviation (p = 0.0185). Additional variants were identified in genes not classically linked to episodic disorders, including KAT6A, NFIX, and DEPDC5. Neuroimaging abnormalities were observed in 7/22 patients, and EEG abnormalities in 3/16. CONCLUSIONS: Genetic testing provides important insights in the evaluation of paediatric patients with episodic neurologic disorders, particularly in those with developmental delay, paroxysmal tonic upgaze, or episodic ataxia. Although the overall diagnostic yield remained low, consistent with other paroxysmal movement disorders, these findings support the integration of genetic testing into the diagnostic algorithm and underscore the need to consider broader genetic aetiologies. Larger studies are warranted to confirm these observations.
BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are rare, progressive lysosomal neurodegenerative disorders. Among late-infantile onset forms (after 18 months of age), type 2 (CLN2 disease) is the most frequent. This s...BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are rare, progressive lysosomal neurodegenerative disorders. Among late-infantile onset forms (after 18 months of age), type 2 (CLN2 disease) is the most frequent. This study assessed the incidence and disease burden at diagnosis of CLN2 disease in France. METHODS: This was a nationwide, population-based, retrospective study including all patients identified with CLN2 disease in the French Hospital Discharge Database (Programme de Médicalisation des Systèmes d'Information, PMSI) from January 2015 to December 2023. RESULTS: After a 2-year washout period to exclude prevalent patients, 51 children were considered to have been diagnosed with CLN2 disease over 7 years (2017-2023). Based on national birth statistics, this corresponds to an incidence of 0.99 cases of CLN2 disease per 100,000 live births. Median age at diagnosis was 5 years (interquartile range, 3-8), with a mean diagnostic delay of 19.1 ± 19.8 months from the first coded symptoms. Epilepsy (90.2 %) and intellectual disability (86.3 %) were the most frequently coded comorbidities. Of the 51 children, 84.3 % were hospitalized via emergency care, and 45.1 % required intensive care. Overall, 13 deaths (25.5 %) were reported, with median age at death of 9 years. CONCLUSIONS: This is the first nationwide epidemiological assessment of CLN2 disease in France. The results demonstrate substantial diagnostic delays and disease burden, underscoring the need for earlier diagnosis and referral to expert centers to optimize care and offer genetic counseling to parents before conceiving subsequent offspring.
OBJECTIVE: Paediatric autoimmune encephalitis and acute disseminated encephalomyelitis (ADEM) are neuroinflammatory disorders that can cause acute MRI abnormalities. Recent analyses suggest brain volume reductions months...OBJECTIVE: Paediatric autoimmune encephalitis and acute disseminated encephalomyelitis (ADEM) are neuroinflammatory disorders that can cause acute MRI abnormalities. Recent analyses suggest brain volume reductions months to years after disease onset. This study aimed to verify whether decreased gray matter thickness would also be observed in whole-brain cortical thickness as well as in temporal polar and orbitofrontal cortices. METHODS: A cohort of children previously diagnosed with autoimmune encephalitis (including anti-NMDA encephalitis and ADEM) were recruited at least two years after initial presentation and a cohort of typically developing children with no known neurological conditions. Cortical thickness across the whole-brain and in each region-of-interest was measured from T1w MRI scans using Freesurfer. RESULTS: MRI scans from 12 children with autoimmune encephalitis (mean age = 10.5; 8F:4M) and 48 controls (mean age = 10.7; 23F 25M) were analysed. The autoimmune encephalitis group had lower cortical thickness in a cluster covering the top part of the left superior occipital gyrus and the bottom part of the left superior parietal lobule (cluster size = 681.55 mm; corrected cluster-wise p = .00459; cluster-wise Cohen's d = -8.3773). No multivariate effect on the cortical thickness of the regions-of-interest was found (Roy's Largest Root = .095, F(df) = 1.207(4); p = .319; partial η = .087). A small univariate effect was observed, with autoimmune encephalitis predicting lower left orbitofrontal thickness (F = 4.407, p = .040, Partial η = .075). INTERPRETATION: Children with autoimmune encephalitis may be subject to local cortical thinning in the long term.
INTRODUCTION: Seizures are a common symptom of pediatric high-grade gliomas (pHGG). This study aimed to characterize these seizures in the context of the underlying tumor disease in this age group. METHODS: We retrospect...INTRODUCTION: Seizures are a common symptom of pediatric high-grade gliomas (pHGG). This study aimed to characterize these seizures in the context of the underlying tumor disease in this age group. METHODS: We retrospectively analysed the medical files of children and adolescents treated in the University Hospital Erlangen for high-grade glioma between January 2000 and May 2021 and collected data including age, sex, tumor location, histopathology, extent of initial resection, tumor recurrence, seizure characteristics, EEG findings, seizure and oncological treatment, and seizure control. RESULTS: Our study included 39 children (14 boys, 35.9 %) diagnosed with high-grade glioma. The median age at diagnosis was 8.5 years (range 0-17 years), and the median follow-up interval was 353 days (range 28-9146 days). 16 children had supratentorial and 23 infratentorial gliomas. 17 children (43.6 %) experienced seizures of which 10/17 (58.8 %) had supratentorial tumors. 5 of these children (20 % of all patients with epilepsy and 12.8 % of the entire cohort) presented with seizures as the first sign. 11/17 children (64.7 %) had recurrent seizures. Status epilepticus occurred in one child (2.6 %). EEG was performed in 29 patients with interictal epileptiform discharges in 4/29 (13.8 %). CONCLUSIONS: Present data show a high incidence of seizures in pHGG associated with supratentorial but also infratentorial location. The pediatric incidence was comparable to that in adults. The majority of the children developed repetitive seizures.
INTRODUCTION/AIMS: Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy, with variable pediatric presentations. Data on quality of life (QoL) and fatigue in children are limited. This study evaluat...INTRODUCTION/AIMS: Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy, with variable pediatric presentations. Data on quality of life (QoL) and fatigue in children are limited. This study evaluated clinical features, QoL, and fatigue in pediatric DM1. MATERIALS AND METHODS: We conducted a cross-sectional study of 24 children with genetically confirmed DM1 followed at a tertiary pediatric neuromuscular clinic between January 2020 and January 2024. Clinical data were retrospectively reviewed, and patients were categorized into congenital, childhood-onset, or juvenile-onset subtypes. QoL and fatigue were assessed using the Pediatric Quality of Life Inventory (PedsQL) Generic Core Scales, Neuromuscular Module, and Multidimensional Fatigue Module, with both parent-proxy and self-reports obtained during routine visits. RESULTS: The cohort (median age 14 years, IQR:8.5-15.75) comprised congenital (n = 4), childhood-onset (n = 11), and juvenile-onset (n = 9) cases. The most common presenting symptoms were hand stiffness(75 %), weakness(54 %), and learning difficulties(50 %). Intellectual disability or learning difficulties were present in 79 %. Multisystem involvement included cardiac (25 %), respiratory (17 %), gastrointestinal (42 %), and ophthalmologic (42 %) complications. Parent-proxy reports revealed reduced QoL across all subgroups (median total scores 43.5-62.0 vs. ≥80 in healthy children). Fatigue was prominent, with sleep/rest fatigue most impaired, particularly in juvenile-onset patients (median 20.8 vs. 79.2 in childhood-onset, p = 0.007). DISCUSSION: Children with DM1 exhibit significant multisystem morbidity and marked impairments in QoL and fatigue. Cognitive and behavioral difficulties are prevalent, supporting the need for routine neuropsychological assessment and educational support. Multidisciplinary care should incorporate systematic QoL and fatigue evaluation, with targeted interventions such as sleep management to optimize long-term outcomes.
AIM: Patients with Severe Neurological Impairment (SNI) have progressive conditions of the central nervous system, resulting in permanent cognitive and motor disabilities and enduring complex healthcare needs. This study...AIM: Patients with Severe Neurological Impairment (SNI) have progressive conditions of the central nervous system, resulting in permanent cognitive and motor disabilities and enduring complex healthcare needs. This study aimed to explore clinicians' shared psychosocial experience of caring for families of children with SNI, including the challenges, and components of care that bring clinicians meaning and purpose, to identify resource pathways to sustain clinicians. METHOD: We purposively recruited multidisciplinary clinicians with expertise caring for patients with SNI to participate in a series of four sequential and semi-structured reflective practice workshops. We recorded workshops and performed a qualitative content analysis, following verbatim transcription. RESULTS: We conducted sixteen workshops with multidisciplinary clinicians including: paediatricians (n = 14); paediatric neurologists (n = 5); allied health professionals: genetic counsellors (n = 2), occupational therapist (n = 1); clinical geneticists (n = 2); clinical nurse specialists (n = 2); a paediatric nephrologist (n = 1); a neurosurgeon (n = 1); and a metabolic specialist (n = 1). Workshops focused on three primary domains: 'the struggle,' 'making a difference' and 'finding purpose and meaning.' Clinicians acknowledged psychosocial challenges and the limits to their medical expertise, emphasising the importance of ongoing reflective practice and proactive multidisciplinary collaboration to sustain themselves and empower patients. In the final workshop series, clinicians identified their preferences for multipronged, multimodal resources, centred on connection, reflection, and support. CONCLUSION: This research provides in-depth insight into how multidisciplinary clinicians caring for patients with SNI cope with challenges and gain meaning and purpose in their role. Co-designed clinician interventions, coupled with integrated and structured reflective practice will address identified challenges and foster clinician meaning and purpose, in supporting their patients.
AIM: The domains of Leventhal's Common Sense Model of Illness Representations have been linked to various physical and emotional outcomes in several health conditions. Research on illness perceptions among adults, and ev...AIM: The domains of Leventhal's Common Sense Model of Illness Representations have been linked to various physical and emotional outcomes in several health conditions. Research on illness perceptions among adults, and even more so among children and adolescents, with epilepsy remains limited. The present review aims to examine and compare the reported associations between illness perceptions and various outcomes in adults and children/adolescents with epilepsy. METHODS: A systematic search of PsychInfo, MEDLINE/PubMed, ScienceDirect Journals, and Science Citation Index Expanded was conducted. Studies that used the Illness Perception Questionnaire (IPQ), the Illness Perception Questionnaire Revised (IPQ-R) or the Brief Illness Perception Questionnaire (BIPQ) and were targeting adults or children/adolescents with epilepsy were included. Seventeen articles dealing with adult patients and four articles with children/adolescents met the inclusion criteria. A quality appraisal checklist was applied to the included articles. RESULTS: Most of the studies were cross-sectional. Summarizing the literature, illness perceptions were shown to be significantly associated with both physical and psychological outcomes. Some notable differences between adults and children/adolescents were discussed such as the fact that emotional representation was significantly associated with all variables investigated in children/adolescents, but not in adults. CONCLUSIONS: The results of this review indicate the potential value of illness perceptions for future experimental and intervention studies in epilepsy research. Children and adolescents with epilepsy remain an underrepresented population in illness perceptions research, warranting specific attention considering differences shown. Recommendations for future research and for daily clinical practice are presented.
BACKGROUND: Fatigue, depression, and decreased health-related quality of life (HRQoL) are commonly reported among patients with pediatric-onset multiple sclerosis (POMS). However, their interplay and distinct manifestati...BACKGROUND: Fatigue, depression, and decreased health-related quality of life (HRQoL) are commonly reported among patients with pediatric-onset multiple sclerosis (POMS). However, their interplay and distinct manifestations remain insufficiently understood. OBJECTIVE: This study aimed to assess fatigue, depressive symptoms, and HRQoL in a well-characterized cohort of POMS patients in comparison to age- and sex-matched healthy controls (HCs). METHODS: Participants completed the Fatigue Severity Scale (FSS), the 36-Item Short Form Survey (SF-36), and the Revised Children's Anxiety and Depression Scale (RCADS). Comparative analyses between groups were conducted using standard parametric and non-parametric statistical tests. RESULTS: A total of 41 patients with POMS (mean age: 17.98 ± 1.94 years; 75.6 % female) and 35 healthy controls (mean age: 17.43 ± 1.17 years; 60 % female) were enrolled. Fatigue was significantly more prevalent and severe in the POMS group, as evidenced by higher FSS scores (p = 0.006) and increased fatigue rates (22 % vs. 2.8 %, p = 0.026). No significant between-group differences were found in depression or anxiety scores (p > 0.05). In the SF-36, POMS patients exhibited significantly lower vitality (p = 0.009) and general health scores (p = 0.001), whereas other domains remained comparable. CONCLUSION: Fatigue and reduced perceptions of vitality and general health are prominent concerns in POMS, even in the absence of overt depressive or anxiety symptoms. These findings underscore the need for early integration of psychological assessments and fatigue-specific interventions within multidisciplinary care to enhance long-term quality of life.
Vitamin B12 deficiency in infancy can lead to global developmental delay or regression along with skin pigmentation, hair changes and tremors, commonly known as the infantile tremor syndrome (ITS). Although a treatable e...Vitamin B12 deficiency in infancy can lead to global developmental delay or regression along with skin pigmentation, hair changes and tremors, commonly known as the infantile tremor syndrome (ITS). Although a treatable entity, the data on the long-term neuro-developmental outcomes of these infants is lacking. In this cross-sectional study, a follow-up cohort of 35 children (aged ≥2 years) with ITS, were assessed for neuro-developmental outcomes using Malin's adaptation of the Vineland Social Maturity Scale (VSMS). A total of 35 children (17 males) were enrolled. The mean age at the social quotient (SQ) assessment was 30 months (SD 7.4). The mean duration of follow-up was 16.3 months (SD 8.3). Only 9 cases (26 %) had an SQ in the average range (85-105), while 18 children (51 %) had a borderline disability (SQ, 70-84). Seven children had an SQ in the mild disability range (55-69), and one child had an SQ of <55. Despite rapid improvement in the immediate post-treatment phase, these infants have significant developmental delays in follow-up.
BACKGROUND: Varicella Zoster Virus (VZV) associated Acute Ischemic Stroke (AIS) in pediatric populations is a rare and potentially underrecognized condition. The global COVID-19 pandemic has led to significant changes in...BACKGROUND: Varicella Zoster Virus (VZV) associated Acute Ischemic Stroke (AIS) in pediatric populations is a rare and potentially underrecognized condition. The global COVID-19 pandemic has led to significant changes in infectious disease patterns, including possible impacts on the incidence of VZV infections. This study describes the incidence of VZV associated AIS in Denmark from 2013 to 2023 using national surveillance data from Denmark. Furthermore, the study investigates a cluster of VZV-associated AIS cases identified over a 10-month period in 2022 in a geographically confined area north-west of Copenhagen, Denmark, following the lifting of COVID-19 restrictions. METHODS: We analyzed national surveillance data on cerebral spinal fluid samples and VZV and AIS diagnoses in nationwide patient registries to estimate the incidence of VZV associated AIS pre, during and post- COVID era in Denmark. To evaluate the clinical disease severity and risk factors and outcome in the post-COVID era we conducted a retrospective case series analysis of four pediatric patients diagnosed with VZV-associated AIS from Greater Copenhagen. RESULTS: Our analysis revealed a notable clustering of VZV-associated AIS cases nationwide, suggesting an increased incidence in Denmark after COVID-19 restrictions were lifted. Clinical presentations of our cases were comparable with the pre-COVID era and did not suggest a more virulent VZV subtype. CONCLUSION: The observed cluster of pediatric VZV-associated AIS cases post-COVID-19 restrictions and national survey data showed a rise in incidence which could reflect an increase in VZV disease due to diminished herd immunity post-COVID 19. The clinical presentations of VZV associated AIS were in keeping with previous reports and the clinical presentations were both unspecific and transient in character.