Evaluating the Credibility and Reliability of Online Information on Cannabidiol (CBD) for Epilepsy Treatment in Poland.

The interest in the potential therapeutic use of cannabis, especially cannabidiol (CBD), has increased significantly in recent years. On the Internet, users can find lots of articles devoted to its medical features such as reducing seizure activity in epilepsy. The aim of our work was to evaluate the information contained on the websites, including social media, in terms of the credibility and the reliability of current knowledge about the usage of products containing cannabidiol in epilepsy treatment. We used online available links found using the Newspointtool. The initial database included 38,367 texts, but after applying the inclusion and exclusion criteria, 314 texts were taken into consideration. Analysis was performed using the DISCERN scale and the set of questions created by the authors. In the final assessment, we observed that most of the texts (58.9%) were characterized by a very poor level of reliability and the average DISCERN score was 26.97 points. Additionally, considering the form of the text, the highest average score (35.73) came from entries on blog portals, whereas the lowest average score (18.33) came from comments and online discussion forums. Moreover, most of the texts do not contain key information regarding the indications, safety, desired effects, and side effects of CBD therapy. The study highlights the need for healthcare professionals to guide patients towards reliable sources of information and cautions against the use of unverified online materials, especially as the only FDA-approved CBD medication, Epidiolex, differs significantly from over-the-counter CBD products.

Comparison of knowledge and awareness of epilepsy between medical students of two universities in Poland.

BACKGROUND: Epilepsy is one of the most common neurological disorders. As a chronic disease, associated with long-term treatment with antiseizure medication, it can have a negative impact on patients' quality of life. Moreover, patients are faced with a significant psychosocial burden associated with the stigma surrounding epilepsy. Medical professionals should be well educated and free of prejudices in order to provide adequate care for patients with epilepsy. The aim of the study was to evaluate the knowledge and awareness of epilepsy among medical students of years 1-6 in Poland and examine if certain personality traits influence students' view of epilepsy. METHODS: The study was conducted using snowball sampling of 166 Polish medical students from Medical University of Gdansk and Medical University of Warsaw. Participants completed a survey which consisted of their subjective assessment of knowledge of epileptology, actual knowledge of epileptology, and their view of stereotypes about epilepsy. In addition, students completed the IPIP-BFM-20 personality questionnaire. RESULTS: Polish medical students have sufficient basic knowledge about epilepsy (mean scores of students from both universities is 14 out of 25 points). There is still room for improvement, especially in the field of epidemiology, semiology, factors provoking seizures, antiseizure medications, and most importantly about first aid during seizure (e.g., 7% of respondents believed it is necessary to put something between teeth of a patient during seizure). Age and the year of study were well correlated with knowledge score (p = 0.008) and level of awareness of the stereotypes. We found that most personality traits do not have a strong impact on the level of knowledge about epilepsy. CONCLUSIONS: Most students have a satisfying level of knowledge about epilepsy. Academic teachers should put more emphasis on first aid during seizures and awareness of psychosocial challenges associated with the disease. It is crucial for future physicians to not only possess sufficient theoretical knowledge, but also establish an empathetic doctor-patient relationship in order to provide better care for patients with epilepsy and other chronic diseases.

Impairment of cognitive functions in children and adolescents with focal epilepsy.

Introduction: Frontal Lobe Epilepsy (FLE) and Temporal Lobe Epilepsy (TLE) are the two most frequent types of focal epilepsies and they are connected with difficulties in cognitive functioning. Despite multiple trials to systematize profile of cognitive functioning among children with epilepsy by researchers, the available data are ambiguous. The aim of our study was to compare the cognitive function of children upon diagnosis of TLE and FLE and during follow-up and to compare with a control group of healthy children. Material and methods: Study included 39 patients with newly diagnosed TLE, 24 patients with FLE whose first epileptic seizure occurred between their 6th and 12th year of life and 24 healthy children matched by age, sex and IQ level. Neuropsychological examination was performed the moment of diagnosis and 2-3 years later using diagnostic tools validated and standardized to the patient's age. Intergroup comparison was conducted in both stages of study. Also, correlation between localization of epileptic focus and cognitive difficulties was analysed. Results: Children with FLE and TLE accomplished worse results in most of the cognitive tasks compared to the control group already in the initial examination. Patients with FLE presented difficulties in memorizing verbal and visual material, attention and in learning new information. Patients with TLE had difficulties in tasks engaging verbal and non-verbal memory and attention. In the follow-up, patients with FLE presented more severe cognitive impairment compared with the other groups. Despite similar tendencies among children with TLE significantly worse results in tasks engaging verbal memory and attention were observed among patients with FLE. It is noteworthy that patients suffering from FLE and TLE present deficits in many aspects of cognitive functioning already at the time of diagnosis. Conclusion: Children and adolescents suffering from epilepsy are at risk of psychosocial difficulties, emotional disorders and mental illnesses. Thus, full assessment of cognitive function is essential in this patient group not only at the moment of diagnosis but also during follow-up in order to quickly introduce an individual support system.

Is Atopic Dermatitis Only a Skin Disease?

Atopic dermatitis (AD) is a chronic, pruritic, inflammatory dermatosis that imposes significant patient and population burdens. In addition to the cutaneous signs and symptoms, growing evidence suggests that AD is systemic in nature. Certain diseases can possibly co-occur with AD as a result of coincidental exposure to similar environmental factors. However, it is also suspected that they are linked to the pathogenesis of AD through more complex genetic and immunological mechanisms, but these correlations remain less understood. It is of great need to seek explanations for the higher frequency of the number of cardiovascular, autoimmune, neurological, psychiatric, and metabolic disorders that have been observed in epidemiologic investigations among AD patients. Moreover, analysing the immunology of chronic inflammation and its correction, activation, or suppression may prevent the development of a variety of comorbidities. As comorbid diseases in patients diagnosed with AD may potentially go undetected, physicians should be aware of them.

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.

Introduction: Epilepsy is one of the commonest diseases in children, characterized by extensive phenotypic and genetic heterogeneity. This study was conducted to determine the diagnostic utility and to identify novel clinical and therapeutic implications of genetic testing in pediatric patients with epilepsy. Methods: Large multigene panel and/or exome sequencing was performed in 127 unrelated Polish and Ukrainian patients with suspected monogenic epilepsy. Diagnostic yields were presented for five phenotypic subgroups, distinguished by seizure type, electroencephalographic abnormalities, anti-seizure treatment response, and neurodevelopmental deficits. Results: A definite molecular diagnosis was established in 46 out of 127 cases (36%). Alterations in six genes were detected in more than one patient: SCN1A, MECP2, KCNT1, KCNA2, PCDH19, SLC6A1, STXBP1, and TPP1, accounting for 48% of positive cases. 4/46 cases (8.7%) were mosaic for the variant. Although the highest rates of positive diagnoses were identified in children with developmental delay and generalized seizures (17/41, 41%) and in developmental end epileptic encephalopathies (16/40, 40%), a monogenic etiology was also frequently detected in patients with solely focal seizures (10/28, 36%). Molecular diagnosis directly influenced anti-seizure management in 15/46 cases. Conclusion: This study demonstrates the high diagnostic and therapeutic utility of large panel testing in childhood epilepsies irrespective of seizure types. Copy number variations and somatic mosaic variants are important disease-causing factors, pointing the need for comprehensive genetic testing in all unexplained cases. Pleiotropy is a common phenomenon contributing to the growing phenotypic complexity of single-gene epilepsies.

Social Media as a Source of Knowledge about Gene Therapy for Spinal Muscular Atrophy.

Social media is one of the most common sources of medical information. We aimed to evaluate the information contained on websites, including social media and descriptions of fundraisers, in terms of the reliability of knowledge about SMA and gene therapy with onasemnogen abeparvovec. We used a set of available online links found using the Newspointtool. Initially, 1525 texts were included in the study, and after applying the inclusion and exclusion criteria, 112 texts were qualified for analysis using the DISCERN scale and the set of questions prepared by the authors. We observed that most of the texts had poor (48.65%) and medium (27.03%) reliability in the final reliability assessment. All the texts selected for the study were related to gene therapy, although few contained key information about it. In addition, the authors of the entries used various words and phrases that influenced the readers' perceptions of the text. Of the analyzed sources, 68.8% had an emotional component. Social media is a poor source of information about gene therapy for SMA in Poland. The analyzed texts do not provide a full and complete description of the SMA problem. However, it is important to remember that the Internet is a changing source of information and will hopefully contain more relevant entries in the future.

Expanding the phenotype of DNAJC30-associated Leigh syndrome.

Leigh syndrome (LS) is a progressive neurodegenerative disease, characterized by extensive clinical, biochemical, and genetic heterogeneity. Recently, biallelic variants in DNAJC30 gene, encoding a protein crucial for the repair of mitochondrial complex I subunits, have been associated with Leber hereditary optic neuropathy and LS. It was suggested that clinical heterogeneity of DNAJC30-associated mitochondrial disease may be attributed to digenic inheritance. We describe three Polish patients, a 9-year-old boy, and female and male siblings, aged 17 and 11 years, with clinical and biochemical manifestations of LS. Exome sequencing (ES) identified a homozygous pathogenic variant in DNAJC30 c.152A>G, p.(Tyr51Cys) in the 9-year-old boy. In the siblings, ES identified two DNAJC30 variants: c.152A>G, p.(Tyr51Cys) and c.130_131del, p.(Ser44ValfsTer8) in a compound heterozygous state. In addition, both siblings carried a novel heterozygous c.484G>T, p.(Val162Leu) variant in NDUFS8 gene. This report provides further evidence for the association of DNAJC30 variants with LS. DNAJC30-associated LS is characterized by variable age at onset, movement disorder phenotype and normal or moderately elevated blood lactate level. Identification of a candidate heterozygous variant in NDUFS8 supports the hypothesis of digenic inheritance. Importantly, DNAJC30 pathogenic variants should be suspected in patients with LS irrespective of optic nerve involvement.

Reflex seizures in rare monogenic epilepsies.

Reflex seizures (RSs) are epileptic events consistently induced by specific triggers. They occur in epilepsies of varied etiologies and are often accompanied by spontaneous seizures. The genetic background of RSs is heterogeneous and polygenic or multifactorial inheritance is suspected in the majority of cases. Although causative single-gene variants are rarely identified, the number of genes associated with RSs is gradually increasing. In this article, we describe individuals presenting reflex seizures as predominant epileptic events in whom we identified pathogenic and likely pathogenic variants in CACNA1A, GNAO1, and NOVA2 genes. In addition, we summarize rare monogenic epilepsies associated with RSs. The presence of RSs in our patients expands the phenotypic spectrum of the diseases and contributes to our knowledge of the underlying monogenic defects in reflex seizures.

COVID-19 pandemic influence on epilepsy course in pediatric patients.

INTRODUCTION: In 2020, Coronavirus Disease 2019 (COVID-19) was declared as a global pandemic. Self-reported stress, anxiety, and insomnia, which are believed to be common triggers for epilepsy, are more likely to occur. We aimed to establish the influence of COVID-19 pandemic itself on changes in the daily life routine related to pandemic on epilepsy course in pediatric patients. The unique form of clinical care which is telemedicine was also taken into consideration. We wanted to evaluate patients' satisfaction with telemedicine and if changing stationary visits into telemedicine influenced epilepsy course in our patients. METHODS: Patients, who attended developmental neurology outpatient clinic in the period March-December 2020 were collected. As patients were minors, legal guardians were asked to fill out the questionnaire. Patients were divided according to the outcome into three groups: those with a worsened, stable, or improved course of epilepsy during the pandemic. Appropriate statistical tests for two-group and multi-group comparisons have been implemented. Post hoc p values were also calculated. RESULTS: Four hundred and two questionnaires were collected. Most of the patients had a stable course of epilepsy during the pandemic; in 13% of participants an improvement has been observed, worsening of the disease was seen in 16% of patients. Age, sex, type of epilepsy, number of seizure incidents before pandemic, and duration of the disease had no statistically significant connection with changes in the course of the disease. Behavioral changes and altered sleep patterns were found to be more common in the worsened group. Fifty-eight percent of patients were satisfied with telemedicine. Poorer satisfaction was connected with less frequent visits, cancellation of scheduled appointments, and lack of help in case of need in an emergency situation. CONCLUSION: Epilepsy course in pediatric patients seems to be stable during COVID-19 pandemic. Sleep disturbances and changes in a child's behavior may be related to increase in seizure frequency. Telemedicine is an effective tool for supervising children with epilepsy. Patients should be informed about possible ways of getting help in urgent cases.

Epilepsy awareness among school-aged students in Poland.

OBJECTIVE: Epilepsy can be a well-controlled condition with only a slight impact on patients' life. Lack of knowledge within society contributes to children with epilepsy experiencing discrimination and hostility. The aim of this study was to evaluate the awareness of epilepsy and general views on people struggling with this disease among school-aged children. METHODS: The study was conducted on a random sample of Polish school students, in total 472 participants. Participants' knowledge was assessed by a self-completed survey. RESULTS: Students are unaware of the wide range of symptoms occurring during seizures. More than half claimed that people experiencing epilepsy should not perform sports activities. Alarmingly, 30% of participants believe that those patients should not leave the house and they should be excluded from many jobs. Almost all participants would help a person experiencing seizures and remember proper head protection; shockingly, 20% of children would try to put something in the person's mouth. Older students seem to be better educated on epilepsy, but the percentage of incorrect personal beliefs and myths is similar for each age group. SIGNIFICANCE: School-aged students have insufficient knowledge of epilepsy. More emphasis should be put on first aid during seizures and on the spectrum of epilepsy symptoms. Educating society is important for life quality of people experiencing epilepsy.

Use of cannabidiol in the treatment of epilepsy.

INTRODUCTION: Cannabis sativa has been cultivated for human use for about 5,000 years, and has likewise been used in the treatment of epilepsy for thousands of years. STATE OF THE ART: Cannabidiol (CBD), which was isolated from cannabis sativa in 1940, has an anti-seizure effect and no psychoactive activity. Its effectiveness in reducing various types of seizures has been proven in animal seizure and epilepsy models. Recent randomised, placebo-controlled trials have confirmed its effectiveness in patients with drug-resistant epilepsy. CLINICAL IMPLICATIONS: The aim of this position paper was to present the specific mechanism of CBD's anti-seizure action and current indications for CBD's use in epilepsy. The only cannabis-derived drug that has successfully passed clinical trials and has obtained United States Food and Drug Administration and European Medicines Agency approval for epilepsy is Epidiolex®. This paper presents the outcomes of the completed clinical trials with the use of this drug. FUTURE DIRECTIONS: CBD may be an effective drug in drug-resistant epilepsy, particularly in Dravet Syndrome, Lennox- Gastaut Syndrome and seizures associated with tuberous sclerosis complex. Additional randomised, placebo-controlled studies with CBD are needed.

The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy.

PURPOSE: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers. MATERIALS AND METHODS: A detailed survey of several items on eight main topics (general characteristics, motor function, comorbidities, therapies, anthropometry, feeding mode and problems and perceived nutritional status) was developed and tested for the study. Correlation between nutritional status and Gross Motor Function Classification System (GMFCS) levels was assessed using continuous variables (Z-scores for weight-for-age, height-for-age, weight-for-height, and body mass index-for-age), and categorical variables (being malnourished, stunted, or wasted). HCP and caregiver perceptions of the child's nutritional status as well as agreement between perceived and objective nutritional status and agreement between perceived nutritional status and concerns about the nutritional status were analyzed. RESULTS: Data were available for 497 participants from eight European countries. Poorer nutritional status was associated with higher (more severe) GMFCS levels. There was minimal agreement between perceived and objective nutritional status, both for HCPs and caregivers. Agreement between HCP and caregiver perceptions of the child's nutritional status was weak (weighted kappa 0.56). However, the concerns about the nutritional status of the child were in line with the perceived nutritional status. CONCLUSIONS: The risk of poor nutritional status is associated with more severe disability in children and adolescents with CP. There is a mismatch between HCP and caregiver perceptions of participants' nutritional status as well as between subjective and objective nutritional status. Our data warrant the use of a simple and objective screening tool in daily practice to determine nutritional status in children and adolescents with CP. Clinical trial registration: ClinicalTrials.gov Identifier: NCT03499288 (https://clinicaltrials.gov/ct2/show/NCT03499288). IMPLICATIONS FOR REHABILITATIONUse of the ESPGHAN recommendations and simple screening tools in daily practice is needed to improve nutritional care for individuals with CP.Attention should be paid to the differences in the perception of nutritional status of individuals with CP between professionals and caregivers to improve appropriate referral for nutritional support.Objective measures rather than the professional's perception need to be used to define the nutritional status of individuals with CP.

Unstable Graves' disease as a precipitating factor for cerebral sinus venous thrombosis.

Not required for Clinical Vignette.

Nusinersen treatment of Spinal Muscular Atrophy Type 1 - results of expanded access programme in Poland.

AIM OF THE STUDY: This study aimed to evaluate the effects of nusinersen therapy in Polish children with SMA type 1. CLINICAL RATIONALE OF STUDY: Spinal muscular atrophy (SMA) is a neuromuscular disorder that is characterised by the loss of motor neurons, progressive muscle weakness and atrophy, leading to increased disability and mortality. Nusinersen, an antisense oligonucleotide that promotes production of the functional survival motor neuron protein is approved for the treatment of SMA 5q in the European Union. In 2017, an early access programme (EAP) for nusinersen was launched in Poland. In this study, we present the results of nusinersen treatment in Polish patients participating in the EAP. MATERIALS AND METHODS: We collected prospectively clinical data including mutational analysis of SMN1 and SMN2 genes, motor function outcomes as measured on a standardized scales, ventilatory and nutritional status, on SMA type 1 patients receiving nusinersen in three EAP centres in Poland. Scores on the CHOP-INTEND scale after 18-26 months of treatment were compared to baseline. RESULTS: We analysed data from 26 patients with SMA type 1, mean age 4.79 (2-15) years. The mutational analysis revealed two SMN2 gene copies in the majority of patients (61.54%). Three and four copies were found in 34.62% and 3.84%, respectively. Median disease duration was 21 months. Half (n = 13) of the patients required mechanical ventilation at baseline and 57.69% (n = 15) were fed by nasogastric tube or percutaneous endoscopic gastrostomy. No patient worsened during the follow-up. Mean improvement in CHOP-INTEND from baseline to the last follow-up was 7.38 points (p < 0.001). CHOP-INTEND scores did not decline for any patient. Patients with three or more SMN2 gene copies had higher scores than did the patients with two copies (p = 0.013), and they tended to show greater improvement over time, but the difference was not significant (p = 0.324). Shorter disease duration and higher CHOP-INTEND baseline score were associated with a better response (p = 0.015). Patients with a CHOP-INTEND score above the median had higher scores overall than the rest (p < 0.0013), and they improved significantly more than the rest (p = 0.037). Nusinersen was well tolerated, no new safety findings were identified. CONCLUSIONS AND CLINICAL IMPLICATIONS: Our data indicates that nusinersen treatment might be effective in SMA type 1 patients, regardless of their age and functional status.

Peri-ictal headaches in the paediatric population - prospective study.

INTRODUCTION: The co-occurrence of headache and epilepsy is well-documented in the adult population. The aim of the prospective study was to analyse in the paediatric population the correlations between the types of peri-ictal headaches and types of seizures. Furthermore, an attempt was made to find trends in characteristic features of peri-ictal headaches.Material: A total of 57 children with peri-ictal headache were enrolled in the study. The participants' guardians were asked to keep a diary of the seizure and peri-ictal headache episodes during a 180-day period. During follow-up visits, systematic history regarding peri-ictal headaches was taken. RESULTS: A total of 913 seizure and 325 peri-ictal headache episodes were noted during the study. Post-ictal headaches were most common, occurring in < 1 h after the seizure, lasting minutes to hours and more likely to occur after generalised seizures, whereas pre-ictal headaches occurred 30-240 min before the seizure. In the analysed group, peri-ictal headaches were most often moderate in intensity. Only 30% of patients took analgesic medication, usually to treat post-ictal headaches. CONCLUSION: Peri-ictal headaches are a significant health problem for patients with epilepsy. The most common type are post-ictal headaches, and they are most likely to appear after a generalised seizure.

Thermoregulation disorders of central origin - how to diagnose and treat.

Fever is a common symptom in the Intensive Care Unit. At least half of febrile episodes are caused by infection. Excluding infectious etiology and other non-infectious causes of fever, especially in patients with central nervous system (CNS) disorders, attention should be paid to disturbances of thermoregulatory centre. In particular, subarachnoid haemorrhage, cerebral trauma, along with ischaemic or haemorrhagic stroke are strongly associated with the development of central fever. Proper, speedy diagnosis of the cause of fever makes it possible to implement preventive measures against the harmful effects of hyperthermia on the CNS and to avoid the consequences of inappropriate treatment. The aim of this review is to present the current treatment options for the management of central fever and to analyze recent recommendations for the treatment of hyperthermia, including the use of hypothermia. The recommendations of American and European associations are inconsistent, mainly due to the lack of randomized clinical trials confirming the effectiveness of such treatment. The diagnosis of central fever is still made by the exclusion of other causes. The authors of the review intended to present the characteristic features of central fever, differentiating this state from infectious fever and also analyze the presence of central fever in particular neurological diseases. It seems particularly important to establish diagnostic criteria for central fever or to find diagnostic markers. It is also necessary to conduct further randomized clinical trials evaluating the indications for treatment of hyperthermia.