-
Epilepsy Research Jan 2024Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (D/EE-SWAS), also referred to as electrical status epilepticus during sleep (ESES)...
INTRODUCTION
Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (D/EE-SWAS), also referred to as electrical status epilepticus during sleep (ESES) or epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS or EE-CSWS), is a spectrum of rare childhood epileptic encephalopathies that can lead to long-term cognitive impairment. Despite the importance of early diagnosis and intervention for D/EE-SWAS, there is a paucity of well-controlled clinical trial data to inform treatment, and no approved treatments are available. To assess correlations between diagnosis, treatment, and outcomes in D/EE-SWAS, we carried out a systematic review of the literature.
METHODS
In August 2020, we conducted comprehensive database searches using search terms including "electrical status epilepticus," "ESES," "CSWS," and "Landau-Kleffner syndrome." Two or more independent reviewers screened titles, abstracts, and full-text articles for those that met the following criteria: prospective studies (randomized controlled trials [RCTs] or open-label trials), retrospective studies (drug evaluations or observational studies/chart reviews), and case series with ≥ 10 participants. Both interventional and non-interventional studies were included (i.e., drug intervention was not an inclusion criterion). Articles published before 2012, review articles, animal studies, and studies of surgical or dietary interventions were excluded. Standardized data extraction templates were used to capture data on study design, patient characteristics, interventions, and outcomes from each of the selected publications. Study quality was assessed using the Cochrane Risk of Bias Tool for RCTs and the Newcastle-Ottawa Scale (NOS) or the Joanna Briggs Institute (JBI) Critical Appraisal Checklist for retrospective, observational studies.
RESULTS
A total of 34 studies were included for full data extraction, most of which were uncontrolled and observational. Interpretation of study outcomes was limited by small study populations, variability in inclusion criteria, and inconsistency in methods of assessment and reporting of outcomes, which resulted in large heterogeneity in patients and their presenting symptoms. Despite these limitations, some patterns could be discerned. Several studies found that longer duration of ESES and younger age at onset were correlated with more severe language and cognitive deficits. In addition, several studies reported an association between improvement in cognitive outcomes and reduction in electroencephalogram (EEG) abnormalities and/or seizure frequency. In the 16 prospective or retrospective studies that evaluated drug treatments (e.g., antiseizure medications, corticosteroids, and high-dose diazepam), there was some improvement in EEG, seizure, and/or cognitive outcomes, although the specific outcomes and rates of improvement reported varied from study to study.
CONCLUSION
Long-term cognitive deficits remain common in D/EE-SWAS, and data gaps exist in the literature that preclude an evidence-based approach to managing this complex epilepsy indication. Early intervention with more effective medications is needed to optimize long-term outcomes. Sufficiently powered, randomized, double-blind, controlled trials with standardized methods and predefined primary and secondary outcomes are needed.
Topics: Child; Humans; Cognition Disorders; Electroencephalography; Epilepsy, Generalized; Landau-Kleffner Syndrome; Randomized Controlled Trials as Topic; Sleep; Status Epilepticus
PubMed: 38157757
DOI: 10.1016/j.eplepsyres.2023.107278 -
Frontiers in Genetics 2023Early detection and diagnosis are important crucial to prevent life-threatening acute attacks in patients with acute intermittent porphyria (AIP). We aim to provide...
Early detection and diagnosis are important crucial to prevent life-threatening acute attacks in patients with acute intermittent porphyria (AIP). We aim to provide comprehensive data on the clinical and gene variant characteristics and genotype-phenotype association of Chinese patients with AIP in order to improve clinicians' knowledge of AIP and reduce misdiagnosis and mistaken treatment. We searched the literature on Chinese patients with AIP in PubMed, Web of Science, Wiley Online Library, ScienceDirect and Chinese literature databases up to August 2023 in our analysis to explore the clinical and gene variant characteristics of Chinese patients with AIP. A total of 41 original articles associated with Chinese AIP patients were included for analysis: 97 variants were detected in 160 unrelated families, including 35 missense, 29 frameshift, 24 splicing and 9 nonsense variants, with c.517C>T being the most common variant. Clinical data were reported in 77 of 160 patients: Most of them were female (67/77) and the age was 28.8 ± 9.9 years. The most common symptom was abdominal pain (73/77, 94.8%), followed by central nervous system symptoms (45/77, 58.4%). 13.0% (10/77) of patients experienced psychiatric symptoms. Hyponatremia was the most common electrolyte abnormality (42/77). 31 patients received carbohydrate loading therapy, and 30 of them were improved. 6 patients were treated with carbohydrate loading combined with hemin therapy and 5 eventually improved. All variants causing premature stop codons, frameshifts or enzyme activity center may experience more severe clinical phenotypes such as seizures, respiratory paralysis, intracranial hemorrhage disorder or respiratory failure. The most common presenting symptom in Chinese AIP patients was abdominal pain, followed by central nervous system symptoms. The gene analysis in Chinese AIP patients revealed that the heterogeneity is strong and the most common variant was missense mutation, with c.517C>T being the most common variant. The genotype-phenotype association helps guide clinical diagnosis and treatment. However, the treatment for AIP in China is limited and monolithic, and more attention needs to be paid to the treatment.
PubMed: 38148975
DOI: 10.3389/fgene.2023.1291719 -
Epilepsy & Behavior : E&B Jan 2024Guidance documents play a pivotal role in shaping the management of status epilepticus (SE). However, the methodological quality of these documents remains uncertain. In... (Review)
Review
Guidance documents play a pivotal role in shaping the management of status epilepticus (SE). However, the methodological quality of these documents remains uncertain. In this systematic review, we comprehensively searched 12 literature and guideline databases to assess the quality of clinical practice guidelines and consensus statements related to SE management using the AGREE II methodology. Additionally, we summarized the associated recommendations. We identified a total of 14 clinical practice guidelines and 11 consensus statements spanning the period from 1993 to 2022. The median score for clarity of presentation was 71.8% (ranging from 15.3% to 91.7%), indicating generally good clarity. However, the aspect of editorial independence received poor ratings, with a median score of 32.1% (ranging from 0% to 83.3%). Notably, the 2016 guideline published by the American Epilepsy Society in Epilepsy (AES) received the highest overall scores. Across these guidance documents, there was consistency in the definition and diagnosis of SE. However, significant variability was observed in therapeutic recommendations, particularly in terms of the timing for adding or changing medications. The methodological approaches used in most SE guidance documents require improvement, and the disparities in recommendations highlight existing gaps in evidence. Enhanced methodological rigor results in increased standardization of the guideline, consequently augmenting its reference value. Given the urgency of SE as an emergency condition, it is imperative that these documents also address relevant management strategies before admission.
Topics: Humans; Consensus; Epilepsy; Hospitalization; Status Epilepticus; United States; Practice Guidelines as Topic
PubMed: 38128315
DOI: 10.1016/j.yebeh.2023.109555 -
Seizure Jan 2024Epilepsy is one of the most frequent neurological comorbidities in patients with Down Syndrome (DS). Young patients and adults are the most affected, the latter mostly... (Review)
Review
INTRODUCTION
Epilepsy is one of the most frequent neurological comorbidities in patients with Down Syndrome (DS). Young patients and adults are the most affected, the latter mostly showing a phenotype labeled as "Late-onset myoclonic epilepsy" (LOMEDS). Status epilepticus (SE) is a life-threatening complication in patients with epilepsy. In this study, we described a non-convulsive SE (NCSE) case in a patient diagnosed with LOMEDS. We also performed a systematic review of the literature on SE diagnosis and treatment in patients with Down Syndrome.
METHODS
Clinical and demographic characteristics of a DS patient diagnosed with NCSE were described. The systematic literature search dissected the diagnostic and therapeutic management of SE in patients with DS. The following databases were used: PubMed, EMBASE, and Google Scholar.
RESULTS
5 DS individuals (4 from the past literature + 1 novel case report) with SE have been identified. The median age at SE onset was 42 years (IQR: 21-60.5 years). The most common SE type was myoclonic SE (MSE), followed by NCSE. Two cases of acute symptomatic etiology were described, whereas a progressive symptomatic etiology was otherwise reported. Ictal EEG recording information was available in two patients who showed generalized spike waves and polyspike and wave discharges. In 3 cases, SE was treated with intravenous antiseizure medications that produced a complete resolution.
CONCLUSION
SE may represent a rare complication in patients with DS. Although no definitive conclusions may be achieved due to the lack of evidence, treatment with valproic acid seems effective, especially in MSE. NCSE management is more challenging. It requires low doses of anesthetics, which should be used cautiously due to the high rate of complications.
Topics: Adult; Humans; Middle Aged; Young Adult; Down Syndrome; Electroencephalography; Epilepsy; Status Epilepticus; Valproic Acid
PubMed: 38101201
DOI: 10.1016/j.seizure.2023.11.009 -
Neurology(R) Neuroimmunology &... Jan 2024We characterize clinical and neuroimaging features of SARS-CoV-2-related acute necrotizing encephalopathy (ANE).
BACKGROUND AND OBJECTIVES
We characterize clinical and neuroimaging features of SARS-CoV-2-related acute necrotizing encephalopathy (ANE).
METHODS
Systematic review of English language publications in PubMed and reference lists between January 1, 2020, and June 30, 2023, in accordance with PRISMA guidelines. Patients with SARS-CoV-2 infection who fulfilled diagnostic criteria for sporadic and genetic ANE were included.
RESULTS
From 899 articles, 20 cases (17 single case reports and 3 additional cases) were curated for review (50% female; 8 were children). Associated COVID-19 illnesses were febrile upper respiratory tract infections in children while adults had pneumonia (45.6%) and myocarditis (8.2%). Children had early neurologic deterioration (median day 2 in children vs day 4 in adults), seizures (5 (62.5%) children vs 3 of 9 (33.3%) adults), and motor abnormalities (6 of 7 (85.7%) children vs 3 of 7 (42.9%) adults). Eight of 12 (66.7%) adults and 4 (50.0%) children had high-risk ANE scores. Five (62.5%) children and 12 (66.7%) adults had brain lesions bilaterally and symmetrically in the putamina, external capsules, insula cortex, or medial temporal lobes, in addition to typical thalamic lesions of ANE. Hypotension was only seen in adults (30%). Hematologic derangements were common: lymphopenia (66.7%), coagulopathy (60.0%), or elevated D-dimers (100%), C-reactive protein (91.7%), and ferritin (62.5%). A pathogenic heterozygous c/.1754 C>T variant in was present in 2 children: one known to have this before SARS-CoV-2 infection, and a patient tested because the SARS-CoV-2 infection was the second encephalopathic illness. Three other children with no prior encephalopathy or family history of encephalopathy were negative for this variant. Fifteen (75%) received immunotherapy (with IV methylprednisolone, immunoglobulins, tocilizumab, or plasma exchange): 6 (40.0%) with monotherapy and 9 (60.0%) had combination therapy. Deaths were in 8 of 17 with data (47.1%): a 2-month-old male infant and 7 adults (87.5%) of median age 56 years (33-70 years), 4 of whom did not receive immunotherapy.
DISCUSSION
Children and adults with SARS-CoV-2 ANE have similar clinical features and neuroimaging characteristics. Mortality is high, predominantly in patients not receiving immunotherapy and at the extremes of age.
Topics: Adult; Child; Child, Preschool; Female; Humans; Infant; Male; Middle Aged; Brain Diseases; COVID-19; Methylprednisolone; SARS-CoV-2; Seizures; Aged
PubMed: 38086061
DOI: 10.1212/NXI.0000000000200186 -
Frontiers in Pharmacology 2023Poststroke epilepsy (PSE) is a common complication of strokes that seriously affects the recovery and quality of life of patients, and effective treatments are needed....
Poststroke epilepsy (PSE) is a common complication of strokes that seriously affects the recovery and quality of life of patients, and effective treatments are needed. Chinese herbal medicine (CHM) adjunctive therapy is a viable treatment option, but current evidence is insufficient to support its efficacy and safety. This study aimed to evaluate the efficacy and tolerability of CHM adjunctive therapy in the treatment of PSE. A systematic search of eight databases was conducted to identify PSE-related randomized clinical trials from the inception of each database through October 2023. The methodological quality assessment was conducted by RoB 2.0, meta-analysis was conducted by RevMan 5.3 and Stata 15.1, and evidence quality was evaluated by GRADE. Twenty-three RCTs involving 1,901 PSE patients were identified. We found that orally administered CHM plus conventional Western medicine (CWM) was superior to CWM monotherapy in increasing the 75% responder rate ( 1.46, 95% CI: 1.31 to 1.62, < 0.00001), decreasing the seizure duration ( -1.01, 95% CI: -1.30 to -0.72, < 0.00001), improving total responder rate ( 1.29, 95% CI: 1.20 to 1.37, < 0.00001), reducing epileptiform discharges (EDs) ( -2.02.46, 95% CI: -2.64 to -1.40, < 0.00001), and decreasing the number of leads involved in epileptiform discharge ( -3.92, 95% CI: -5.15 to -2.68, < 0.00001). Furthermore, intravenously administered CHM plus CWM was superior regarding 75% responder rate ( 1.39, 95% CI: 1.24 to 1.56, < 0.00001), total responder rate ( 1.29, 95% CI: 1.20 to 1.39, < 0.00001), EDs ( -3.92, 95% CI: -5.15 to -2.68, < 0.00001), and the number of leads involved in epileptiform discharge ( -1.82, 95% CI: -2.62 to -1.02, < 0.00001). However, regarding the 50%-75% responder rate, there was no statistically significant difference between the two groups for either oral ( 1.00, 95% CI: 0.77 to 1.29, = 0.98) or injectable CHM ( 0.95, 95% CI: 0.67 to 1.33, = 0.75). Both orally administered CHM plus CWM ( 0.56, 95% CI: 0.35 to 0.90, = 0.02) and intravenously administered CHM plus CWM ( 0.64, 95% CI: 0.45 to 0.90, = 0.010) caused fewer AEs than CWM. Furthermore, the levels of evidence ranged from low to high due to publication bias and heterogeneity. CHM adjuvant therapy may be an effective and safe therapy for PSE. However, due to the poor quality of clinical data, more well-designed RCTs are needed to confirm these findings. : https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=364356, identifier PROSPERO (CRD42022364356).
PubMed: 38074155
DOI: 10.3389/fphar.2023.1286093 -
Eculizumab in Shiga toxin-producing Escherichia coli hemolytic uremic syndrome: a systematic review.Pediatric Nephrology (Berlin, Germany) May 2024Infection-associated hemolytic uremic syndrome (IA-HUS), most often due to infection with Shiga toxin-producing bacteria, mainly affects young children. It can be... (Review)
Review
BACKGROUND
Infection-associated hemolytic uremic syndrome (IA-HUS), most often due to infection with Shiga toxin-producing bacteria, mainly affects young children. It can be acutely life-threatening, as well as cause long-term kidney and neurological morbidity. Specific treatment with proven efficacy is lacking. Since activation of the alternative complement pathway occurs in HUS, the monoclonal C5 antibody eculizumab is often used off-label once complications, e.g., seizures, occur. Eculizumab is prohibitively expensive and carries risk of infection. Its utility in IA-HUS has not been systematically studied. This systematic review aims to present, summarize, and evaluate all currently available data regarding the effect of eculizumab administration on medium- to long-term outcomes (i.e., outcomes after the acute phase, with a permanent character) in IA-HUS.
METHODS
PubMed, Embase, and Web of Science were systematically searched for studies reporting the impact of eculizumab on medium- to long-term outcomes in IA-HUS. The final search occurred on March 2, 2022. Studies providing original data regarding medium- to long-term outcomes in at least 5 patients with IA-HUS, treated with at least one dose of eculizumab during the acute illness, were included. No other restrictions were imposed regarding patient population. Studies were excluded if data overlapped substantially with other studies, or if outcomes of IA-HUS patients were not reported separately. Study quality was assessed using the ROBINS-I tool for risk of bias in non-randomized studies of interventions. Data were analyzed descriptively.
RESULTS
A total of 2944 studies were identified. Of these, 14 studies including 386 eculizumab-treated patients met inclusion criteria. All studies were observational. Shiga toxin-producing E. coli (STEC) was identified as the infectious agent in 381 of 386 patients (98.7%), effectively limiting the interpretation of the data to STEC-HUS patients. Pooling of data across studies was not possible. No study reported a statistically significant positive effect of eculizumab on any medium- to long-term outcome. Most studies were, however, subject to critical risk of bias due to confounding, as more severely ill patients received eculizumab. Three studies attempted to control for confounding through patient matching, although residual bias persisted due to matching limitations.
DISCUSSION
Current observational evidence does not permit any conclusion regarding the impact of eculizumab in IA-HUS given critical risk of bias. Results of randomized clinical trials are eagerly awaited, as new therapeutic strategies are urgently needed to prevent long-term morbidity in these severely ill patients.
SYSTEMATIC REVIEW REGISTRATION NUMBER
OSF Registries, MSZY4, Registration DOI https://doi.org/10.17605/OSF.IO/MSZY4 .
Topics: Child; Humans; Child, Preschool; Shiga-Toxigenic Escherichia coli; Hemolytic-Uremic Syndrome; Kidney; Escherichia coli Infections; Shiga Toxins; Antibodies, Monoclonal, Humanized
PubMed: 38057431
DOI: 10.1007/s00467-023-06216-1 -
Frontiers in Human Neuroscience 2023The number of reported cases of anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis has gradually increased since its discovery in 2007, while there are no... (Review)
Review
BACKGROUND
The number of reported cases of anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis has gradually increased since its discovery in 2007, while there are no uniform treatment guidelines.
OBJECTIVE
To summarize the clinical characteristics of patients with anti-NMDAR encephalitis and to analyze the factors affecting the disease prognosis.
METHODS
A systematic analysis of medical records was conducted, and PubMed, Embase, and Cochrane Library were searched from January 1, 2011, to December 31, 2021. Data were extracted, analyzed, and recorded in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines.
RESULTS
This study included 472 case reports. Most patients had prodromal symptoms of about 2 weeks, including psychiatric symptoms (53.2%), flu-like symptoms (51.5%), and seizures (23.9%), among others. Poor prognoses were associated with patients who had autonomic instability ( = 0.010), central hypoventilation ( = 0.014), and ICU support ( = 0.002). Patients with a higher age of onset were more likely to develop central hypoventilation (OR 1.024, CI 1.006-1.042, = 0.009), cognitive impairment (OR 1.023, CI 1.009-1.037, = 0.001), and memory impairment (OR 1.034, CI 1.017-1.050, < 0.001), whereas patients with a lower age were more likely to have seizures (OR 0.979, CI 0.965-0.993, = 0.003). In this study, 97.0% of patients received immunotherapy, with the most commonly used treatment regimen being intravenous methylprednisolone (IVGC) and intravenous immunoglobulin (IVIG). When compared with other treatment regimens, the IVGC+IVIG regimen ( < 0.001) resulted in better prognoses.
CONCLUSION
When encountering patients with fever, headache, and initial psychiatric symptoms of unknown etiology, clinicians should test their CSF for antibodies to distinguish autoimmune encephalitis. Patients with autonomic instability, central hypoventilation, and ICU support had poorer prognoses. Clinicians should be aware that older patients are more likely to develop central hypoventilation, cognitive impairment, and memory impairment, while younger patients are more likely to develop seizures. The IVGC+IVIG treatment regimen has better prognoses than others. This study includes case reports, which have obvious selection bias, and there are no unified standards to measure the severity of the disease. Therefore, in the future, larger samples and randomized controlled trials are needed to evaluate the efficacy of different treatment regimens.
PubMed: 38053649
DOI: 10.3389/fnhum.2023.1261638 -
Frontiers in Neurology 2023Relapsing polychondritis (RP) is a rare rheumatologic disorder that may affect the neurological system with various presentations. In this study, we present a case and...
BACKGROUND AND PURPOSE
Relapsing polychondritis (RP) is a rare rheumatologic disorder that may affect the neurological system with various presentations. In this study, we present a case and summarize the clinical characteristics of RP-associated meningoencephalitis.
CASE PRESENTATION
A 48-year-old man presented with first-ever seizures that were well controlled by valproate. Physical examination results were unremarkable, except for binaural deformation. The initial brain magnetic resonance imaging (MRI) without contrast and electroencephalogram (EEG) findings were normal. However, the patient subsequently developed recurrent fever, scleritis, headache, lethargy, and left arm paresis. Repeated brain MRI with contrast demonstrated increased enhancement of the pia mater and abnormal diffusion-weighted imaging (DWI) signals in the bilateral auricles. The cerebrospinal fluid (CSF) analysis showed 2 leukocytes/μL, 736.5 mg/L of protein, and no evidence of infectious disease or autoimmune encephalitis. Meningoencephalitis secondary to RP was considered. The patient's condition improved significantly and quickly with the administration of dexamethasone (10 mg per day). Oral methylprednisolone was continued, and the patient remained well without relapse during the 9-month follow-up period.
CONCLUSION
RP-associated meningoencephalitis is rare but fatal. Although symptoms vary, red or deformed ears remain the most common and suggestive features. Non-specific parenchymal changes and/or meningeal enhancement can be observed on brain MRI scans. CSF lymphocytic pleocytosis with mild protein elevation was observed in most patients.
PubMed: 38033767
DOI: 10.3389/fneur.2023.1265345 -
Journal of Education and Health... 2023Epilepsy is the most common chronic neurologic disease which is characterized by recurrent attacks of headache after seizure. Researches show that self-management is an... (Review)
Review
Epilepsy is the most common chronic neurologic disease which is characterized by recurrent attacks of headache after seizure. Researches show that self-management is an important factor in improving the quality of life and quality of care of people affected by epilepsy. Mobile phone technologies play a potential role in patient care assistance and treatment of epilepsy. This systematic review was conducted with an aim to study the role of mobile health in the management of epilepsy. This study was conducted by searching databases such as PubMed, Scopus, Web of Science, and Google scholar search engines using the following keywords: "m-health," "mobile health," "Telemedicine," "Mobile Application," "Smartphone," "epilepsy," and "epilepsy management." Articles published from January 1, 1990 to September 1, 2021 were searched. Inclusion criteria included all articles published in English with a focus on the role of mHealth in the management of epilepsy. Review articles and studies that were not about patients were omitted. In this study, of a total of 4225 retrieved articles, 10 studies met the full-text inclusion criteria. Three types of researches (30%) were done in the USA, five studies (50%) were conducted as randomized controlled trials, and eight articles (80%) had the highest quality. Among the considered articles, three articles (30%) were engaged in training users in epilepsy management. Five articles (50%) reported improvement in seizure control in patients with epilepsy and two articles (20%) did not report any significant improvement. Mobile technologies have a promising role in providing health assessment, education, and other services for patients, and they also help in controlling seizures attack and improvement of epilepsy management. These technologies enjoy great attractiveness, and utilizing them will lead to patient satisfaction.
PubMed: 38023071
DOI: 10.4103/jehp.jehp_1188_22