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1.
Epilepsia ; 2022 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-34985766

RESUMO

OBJECTIVE: This is a systematic review aimed at summarizing the evidence related to instruments that have been developed to measure stigma or attitudes toward epilepsy and on stigma-reducing interventions. METHODS: This review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards. A broad literature search (1985-2019) was performed in 13 databases. Articles were included if they described the development and testing of psychometric properties of an epilepsy-related stigma or attitude scale or stigma-reducing interventions. Two reviewers independently screened abstracts, reviewed full-text articles, and extracted data. Basic descriptive statistics are reported. RESULTS: We identified 4234 abstracts, of which 893 were reviewed as full-text articles. Of these, 38 met inclusion criteria for an instrument development study and 30 as a stigma-reduction intervention study. Most instruments were initially developed using well-established methods and were tested in relatively large samples. Most intervention studies involved educational programs for adults with pre- and post-evaluations of attitudes toward people with epilepsy. Intervention studies often failed to use standardized instruments to quantify stigmatizing attitudes, were generally underpowered, and often found no evidence of benefit or the benefit was not sustained. Six intervention studies with stigma as the primary outcome had fewer design flaws and showed benefit. Very few or no instruments were validated for regional languages or culture, and there were very few interventions tested in some regions. SIGNIFICANCE: Investigators in regions without instruments should consider translating and further developing existing instruments rather than initiating the development of new instruments. Very few stigma-reduction intervention studies for epilepsy have been conducted, study methodology in general was poor, and standardized instruments were rarely used to measure outcomes. To accelerate the development of effective epilepsy stigma-reduction interventions, a paradigm shift from disease-specific, siloed trials to collaborative, cross-disciplinary platforms based upon unified theories of stigma transcending individual conditions will be needed.

2.
Epilepsia ; 2022 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-34985782

RESUMO

OBJECTIVE: To review the evidence of felt and enacted stigma and attitudes toward persons living with epilepsy, and their determining factors. METHODS: Thirteen databases were searched (1985-2019). Abstracts were reviewed in duplicate and data were independently extracted using a standardized form. Studies were characterized using descriptive analysis by whether they addressed "felt" or "enacted" stigma and "attitudes" toward persons living with epilepsy. RESULTS: Of 4234 abstracts, 132 met eligibility criteria and addressed either felt or enacted stigma and 210 attitudes toward epilepsy. Stigma frequency ranged broadly between regions. Factors associated with enacted stigma included low level of knowledge about epilepsy, lower educational level, lower socioeconomic status, rural areas living, and religious grouping. Negative stereotypes were often internalized by persons with epilepsy, who saw themselves as having an "undesirable difference" and so anticipated being treated differently. Felt stigma was associated with increased risk of psychological difficulties and impaired quality of life. Felt stigma was linked to higher seizure frequency, recency of seizures, younger age at epilepsy onset or longer duration, lower educational level, poorer knowledge about epilepsy, and younger age. An important finding was the potential contribution of epilepsy terminology to the production of stigma. Negative attitudes toward those with epilepsy were described in 100% of included studies, and originated in any population group (students, teachers, healthcare professionals, general public, and those living with epilepsy). Better attitudes were generally noted in those of younger age or higher educational status. SIGNIFICANCE: Whatever the specific beliefs about epilepsy, implications for felt and enacted stigma show considerable commonality worldwide. Although some studies show improvement in attitudes toward those living with epilepsy over time, much work remains to be done to improve attitudes and understand the true occurrence of discrimination against persons with epilepsy.

3.
J Alzheimers Dis ; 2022 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-35034899

RESUMO

The COVID-19 pandemic has accelerated neurological, mental health disorders, and neurocognitive issues. However, there is a lack of inexpensive and efficient brain evaluation and screening systems. As a result, a considerable fraction of patients with neurocognitive or psychobehavioral predicaments either do not get timely diagnosed or fail to receive personalized treatment plans. This is especially true in the elderly populations, wherein only 16% of seniors say they receive regular cognitive evaluations. Therefore, there is a great need for development of an optimized clinical brain screening workflow methodology like what is already in existence for prostate and breast exams. Such a methodology should be designed to facilitate objective early detection and cost-effective treatment of such disorders. In this paper we have reviewed the existing clinical protocols, recent technological advances and suggested reliable clinical workflows for brain screening. Such protocols range from questionnaires and smartphone apps to multi-modality brain mapping and advanced imaging where applicable. To that end, the Society for Brain Mapping and Therapeutics (SBMT) proposes the Brain, Spine and Mental Health Screening (NEUROSCREEN) as a multi-faceted approach. Beside other assessment tools, NEUROSCREEN employs smartphone guided cognitive assessments and quantitative electroencephalography (qEEG) as well as potential genetic testing for cognitive decline risk as inexpensive and effective screening tools to facilitate objective diagnosis, monitor disease progression, and guide personalized treatment interventions. Operationalizing NEUROSCREEN is expected to result in reduced healthcare costs and improving quality of life at national and later, global scales.

4.
Epilepsy Behav Rep ; 17: 100516, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34957386

RESUMO

COVID-19 caused devastating effects of human loss and suffering along with disruption in clinical research, forcing reconceptualization and modification of studies. This paper attempts to outline the steps followed and detail the modifications undertaken to deal with the impacts of the pandemic on the first ongoing randomized controlled trial on effectiveness of neuropsychological rehabilitation in adult patients with drug-resistant epilepsy in India. All modifications were based on evolving guidelines and circumstantial context and were planned, reviewed and approved by important stakeholders. Results obtained from the trial need to be interpreted and analysed within this context. These modifications have implications for wider outreach of neuropsychology services in India.

5.
Exp Neurol ; 347: 113916, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34752784

RESUMO

Temporal lobe epilepsy (TLE) is the most common form of intractable epilepsy where hyperactive glutamate receptors may contribute to the complex epileptogenic network hubs distributed among different regions. This study was designed to investigate the region-specific molecular alterations of the glutamate receptors and associated excitatory synaptic transmission in pilocarpine rat model of TLE. We recorded spontaneous excitatory postsynaptic currents (EPSCs) from pyramidal neurons in resected rat brain slices of the hippocampus, anterior temporal lobe (ATL) and neocortex. We also performed mRNA and protein expression of the glutamate receptor subunits (NR1, NR2A, NR2B, and GLUR1-4) by qPCR and immunohistochemistry. We observed significant increase in the frequency and amplitude of spontaneous EPSCs in the hippocampal and ATL samples of TLE rats than in control rats. Additionally, the magnitude of the frequency and amplitude was increased in ATL samples compared to that of the hippocampal samples of TLE rats. The mRNA level of NR1 was upregulated in both the hippocampal as well as ATL samples and that of NR2A, NR2B were upregulated only in the hippocampal samples of TLE rats than in control rats. The mRNA level of GLUR4 was upregulated in both the hippocampal as well as ATL samples of TLE rats than in control rats. Immunohistochemical analysis demonstrated that the number of NR1, NR2A, NR2B, and GLUR4 immuno-positive cells were significantly higher in the hippocampal samples whereas number of NR1 and GLUR4 immuno-positive cells were significantly higher in the ATL samples of the TLE rats than in control rats. This study demonstrated the region-specific alterations of glutamate receptor subunits in pilocarpine model of TLE, suggesting possible cellular mechanisms contributing to generation of independent epileptogenic networks in different temporal lobe structures.


Assuntos
Epilepsia do Lobo Temporal/metabolismo , Hipocampo/metabolismo , Neocórtex/metabolismo , Pilocarpina/toxicidade , Receptores de Glutamato/biossíntese , Lobo Temporal/metabolismo , Animais , Relação Dose-Resposta a Droga , Epilepsia do Lobo Temporal/induzido quimicamente , Epilepsia do Lobo Temporal/patologia , Potenciais Pós-Sinápticos Excitadores/efeitos dos fármacos , Potenciais Pós-Sinápticos Excitadores/fisiologia , Expressão Gênica , Hipocampo/efeitos dos fármacos , Hipocampo/patologia , Masculino , Neocórtex/efeitos dos fármacos , Neocórtex/patologia , Ratos , Ratos Sprague-Dawley , Receptores de Glutamato/genética , Lobo Temporal/efeitos dos fármacos , Lobo Temporal/patologia
6.
Front Neurol ; 12: 782666, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34966349

RESUMO

Introduction: Optimizing patient safety and quality improvement is increasingly important in surgery. Benchmarks and clinical quality registries are being developed to assess the best achievable results for several surgical procedures and reduce unwarranted variation between different centers. However, there is no clinical database from international centers for establishing standardized reference values of patients undergoing surgery for mesial temporal lobe epilepsy. Design: The Enhancing Safety in Epilepsy Surgery (EASINESS) study is a retrospectively conducted, multicenter, open registry. All patients undergoing mesial temporal lobe epilepsy surgery in participating centers between January 2015 and December 2019 are included in this study. The patient characteristics, preoperative diagnostic tools, surgical data, postoperative complications, and long-term seizure outcomes are recorded. Outcomes: The collected data will be used for establishing standardized reference values ("benchmarks") for this type of surgical procedure. The primary endpoints include seizure outcomes according to the International League Against Epilepsy (ILAE) classification and defined postoperative complications. Discussion: The EASINESS will define robust and standardized outcome references after amygdalohippocampectomy for temporal lobe epilepsy. After the successful definition of benchmarks from an international cohort of renowned centers, these data will serve as reference values for the evaluation of novel surgical techniques and comparisons among centers for future clinical trials. Clinical trial registration: This study is indexed at clinicaltrials.gov (NT 04952298).

7.
Natl Med J India ; 34(3): 143-150, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34825538

RESUMO

Background Yoga nidra is practised by sages for sleep. The practice is simple to use and has been clearly laid out, but its role in the treatment of chronic insomnia has not been well studied. Methods In this randomized parallel-design study conducted during 2012-16, we enrolled 41 patients with chronic insomnia to receive conventional intervention of cognitive behavioural therapy for insomnia (n=20) or yoga nidra (n=21). Outcome measures were both subjective using a sleep diary and objective using polysomnography (PSG). Salivary cortisol levels were also measured. PSG was done before the intervention in all patients and repeated only in those who volunteered for the same. Results Both interventions showed an improvement in subjective total sleep time (TST), sleep efficiency, wake after sleep onset, reduction in total wake duration and enhancement in subjective sleep quality. Objectively, both the interventions improved TST and total wake duration and increased N1% of TST. Yoga nidra showed marked improvement in N2% and N3% in TST. Salivary cortisol reduced statistically significantly after yoga nidra (p=0.041). Conclusion Improvement of N3 sleep, total wake duration and subjective sleep quality occurred following yoga nidra practice. Yoga nidra practice can be used for treatment of chronic insomnia after supervised practice sessions.

8.
Neurol India ; 69(5): 1265-1268, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34747794

RESUMO

Background: Major neurocognitive disorders (major NCD) predominantly affect the elderly. Major NCD results in significant morbidity and socioeconomic burden. Objectives: To estimate the individual cost of care of a person with major NCD according to disease severity and component costs. Methods and Material: Fifty patients of major NCD with primary caregivers attending memory clinic of tertiary care center were included. A detailed questionnaire administered after inclusion provided demographic and clinical information. Caregivers were interviewed about details of care provided. Cognitive function was assessed by Hindi mental state examination (HMSE), and major NCD severity was determined by clinical dementia rating scale (CDR). Results: The annual cost of care per patient with mild to moderate and severe major MCD was INR 78288 and INR 167808, respectively. Costs increased with increasing severity of the disease. Direct nonmedical costs were significantly higher than direct medical costs in severe major NCD group and vice versa was found in mild to moderate major NCD group. Conclusion: Increasing population of elderly and prevalence of major NCD suggest an economic burden on caring families and hence the government. Comprehensive health policy toward providing affordable care to people with major NCD is the need of the hour.


Assuntos
Efeitos Psicossociais da Doença , Transtornos Neurocognitivos , Idoso , Cuidadores , Humanos , Testes de Estado Mental e Demência , Inquéritos e Questionários
9.
Neurol India ; 69(5): 1326-1330, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34747806

RESUMO

Background: Chronic stress is known to be associated with dementia. Aim: This study looked for major stressors and their associations with dementia in the elderly demented population. Methods: Case group consisted of 60 subjects (age group 55-75 years; M:F = 7:3) with postscreening for mild cognitive impairment (MCI) and mild Alzheimer's type dementia. Control group consisted of two subgroups: related (N = 60) and not-related (N = 60) subjects screened and confirmed not to be suffering from cognitive impairment. Sociodemographic variables were collected using a personal data sheet. The severity of cognitive impairment was assessed using the Clinical Dementia Rating (CDR) Scale. Subjects with a CDR score of range 0.5-1 were included in mild cognitive impairment and mild Alzheimer's type dementia. Stressful life events were evaluated using the Presumptive Stressful Life Event Scale (PSLES). A present stress level of caregivers was evaluated using Depression Anxiety Stress Scales (DASS). Assessed stress level scores were compared and validated with serum and plasma levels of cortisol and ACTH respectively. Results: Different groups exhibited distinct PSLES and DASS scores with statistical significance. It was also observed that Cortisol and ACTH levels were elevated in case group as compared with that of both sub-group controls. Conclusions: The outcome measures of this study projected that neural degeneration leading to mild cognitive impairment and dementia may be due to accumulative cortisol hormone associated with stressful life events.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Demência , Estresse Psicológico , Idoso , Doença de Alzheimer/epidemiologia , Cuidadores , Disfunção Cognitiva/epidemiologia , Demência/epidemiologia , Feminino , Humanos , Índia/epidemiologia , Masculino , Testes de Estado Mental e Demência , Pessoa de Meia-Idade , Estresse Psicológico/epidemiologia
12.
Front Neurol ; 12: 661269, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34733226

RESUMO

Objectives: The growing prevalence of dementia, especially in low- and middle-income countries (LMICs), has raised the need for a unified cognitive screening tool that can aid its early detection. The linguistically and educationally diverse population in India contributes to challenges in diagnosis. The present study aimed to assess the validity and diagnostic accuracy of the Indian Council of Medical Research-Neurocognitive Toolbox (ICMR-NCTB), a comprehensive neuropsychological test battery adapted in five languages, for the diagnosis of dementia. Methods: A multidisciplinary group of experts developed the ICMR-NCTB based on reviewing the existing tools and incorporation of culturally appropriate modifications. The finalized tests of the major cognitive domains of attention, executive functions, memory, language, and visuospatial skills were then adapted and translated into five Indian languages: Hindi, Bengali, Telugu, Kannada, and Malayalam. Three hundred fifty-four participants were recruited, including 222 controls and 132 dementia patients. The sensitivity and specificity of the adapted tests were established for the diagnosis of dementia. Results: A significant difference in the mean (median) performance scores between healthy controls and patients with dementia was observed on all tests of ICMR-NCTB. The area under the curve for majority of the tests included in the ICMR-NCTB ranged from 0.73 to 1.00, and the sensitivity and specificity of the ICMR-NCTB tests ranged from 70 to 100% and 70.7 to 100%, respectively, to identify dementia across all five languages. Conclusions: The ICMR-NCTB is a valid instrument to diagnose dementia across five Indian languages, with good diagnostic accuracy. The toolbox was effective in overcoming the challenge of linguistic diversity. The study has wide implications to address the problem of a high disease burden and low diagnostic rate of dementia in LMICs like India.

13.
J Alzheimers Dis ; 84(3): 1139-1152, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34633325

RESUMO

BACKGROUND: Oxidative stress plays a major role in Alzheimer's disease (AD) pathogenesis, and thus, antioxidant glutathione (GSH) has been actively investigated in mitigating the oxidative load. Significant hippocampal GSH depletion has been correlated with cognitive impairment in AD. Furthermore, postmortem studies indicated alterations in cellular-energy metabolism and hippocampal pH change toward alkalinity in AD. OBJECTIVE: Concurrent analysis of hippocampal GSH and pH interplay in vivo on the same individual is quite unclear and hence requires investigation to understand the pathological events in AD. METHODS: Total 39 healthy old (HO), 22 mild cognitive impairment (MCI), and 37 AD patients were recruited for hippocampal GSH using 1H-MRS MEGA-PRESS and pH using 2D 31P-MRSI with dual tuned (1H/31P) transmit/receive volume head coil on 3T-Philips scanner. All MRS data processing using KALPANA package and statistical analysis were performed MedCalc, respectively and NINS-STAT package. RESULTS: Significant GSH depletion in the left and right hippocampus (LH and RH) among MCI and AD study groups as compared to HO was observed, whereas pH increased significantly in the LH region between HO and AD. Hippocampal GSH level negatively correlated with pH in both patient groups. The ROC analysis on the combined effect of GSH and pH in both hippocampal regions give accuracy for MCI (LH: 78.27%; RH: 86.96%) and AD (LH: 88%; RH: 78.26%) groups differentiating from HO. CONCLUSION: Outcomes from this study provide further insights to metabolic alterations in terms of concurrent assessment of hippocampal GSH and pH levels in AD pathogenesis, aiding in early diagnosis of MCI and AD.

14.
Epilepsy Behav ; 124: 108342, 2021 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-34627069

RESUMO

OBJECTIVES: COVID-19 pandemic has disrupted healthcare services for chronic disorders such as epilepsy. In this study, the impact of COVID-19 pandemic on persons with epilepsy (PWE) with regard to their seizure control, depression status, and medication adherence was assessed. METHODS: After ethical clearance, 449 PWE who had been previously evaluated for depression at All India Institute of Medical Sciences (AIIMS), New Delhi, India, were telephonically revaluated using Mini International Neuropsychiatric Interview and surveyed for source of medication and medication adherence over past 6 months. The prevalence and the association of depression, suicidality, and seizures during pandemic with different PWE variables were determined. RESULTS: Out of 449 PWE, 70.6% responded. 19.9% were diagnosed positive for depression as per MINI while suicidal ideation was observed in 5.4%. Seventy six (23.9%) PWE reported seizures during pandemic. The incidence was greater in females, unemployed, previously uncontrolled epilepsy, polytherapy, altered use of medications, and depressed PWE. Seizure during pandemic, increased seizure frequency, previous history of depression, and altered use of medications were all significantly associated with depression during COVID-19 pandemic (2.6-95%CI, 1.45-4.73; 1.9-95%CI, 1.01-3.57; 8.8-95%CI, 4.54-17.21; 2.9-95%CI, 1.19-7.24), and polytherapy (2.9-95%CI, 0.92-9.04), seizures during pandemic (3.9-95%CI, 1.45-10.53) and previous history of depression and suicidality, were related with suicidal ideation. CONCLUSION: COVID-19 pandemic-induced disruptions can be detrimental for PWE, and restoring services to the precovid levels as well as putting appropriate continuity plans in place for care of PWE should be a priority.

16.
J Sleep Res ; : e13479, 2021 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-34494338

RESUMO

Sleep disorders are common in children and adolescents. Polysomnography is the gold-standard diagnostic method; however, it is a tedious procedure. The objective of the study was to develop a screening questionnaire for sleep problems based on International Classification of Sleep Disorders-3 in children and adolescents, and validate it with clinical evaluation and polysomnography. A questionnaire was developed in English and Hindi with content validation by eight multidisciplinary experts. Respondents were parents of children and adolescents, aged 2-18 years, recruited from a public school and a tertiary care teaching hospital in north India. A subset of these children and adolescents underwent overnight polysomnography and detailed clinical evaluation within 4 weeks of applying the questionnaire. The questionnaire, named Childhood and Adolescent Sleep Evaluation Questionnaire, contains primary questions covering all subgroups of disorders under International Classification of Sleep Disorders-3, and secondary questions on sleep hygiene and comorbidities. The questionnaire was filled by 750 respondents, out of which 100 cases underwent polysomnography and clinical evaluation. The internal consistency in the form of Cronbach's α was 0.8 for the questionnaire. The sensitivity, specificity, positive and negative predictive values for the questionnaire in identifying those with sleep problems compared with detailed clinical and polysomnographic evaluations were 85%, 100%, 100% and 62.5%, respectively. For individual subgroups of disorders, the sensitivity, specificity, positive and negative predictive values varied between 72.7% and 100%, 88.9% and 100%, 62.5% and 100% and 81.6% and 100%, respectively. The Childhood and Adolescent Sleep Evaluation Questionnaire has good psychometric properties, moreover, its simplicity and translatability make it ideal for use at the community and hospital settings.

17.
Epilepsia ; 62(11): 2707-2718, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34510448

RESUMO

OBJECTIVE: This study was undertaken to determine whether the vertical parasagittal approach or the lateral peri-insular/peri-Sylvian approach to hemispheric surgery is the superior technique in achieving long-term seizure freedom. METHODS: We conducted a post hoc subgroup analysis of the HOPS (Hemispheric Surgery Outcome Prediction Scale) study, an international, multicenter, retrospective cohort study that identified predictors of seizure freedom through logistic regression modeling. Only patients undergoing vertical parasagittal, lateral peri-insular/peri-Sylvian, or lateral trans-Sylvian hemispherotomy were included in this post hoc analysis. Differences in seizure freedom rates were assessed using a time-to-event method and calculated using the Kaplan-Meier survival method. RESULTS: Data for 672 participants across 23 centers were collected on the specific hemispherotomy approach. Of these, 72 (10.7%) underwent vertical parasagittal hemispherotomy and 600 (89.3%) underwent lateral peri-insular/peri-Sylvian or trans-Sylvian hemispherotomy. Seizure freedom was obtained in 62.4% (95% confidence interval [CI] = 53.5%-70.2%) of the entire cohort at 10-year follow-up. Seizure freedom was 88.8% (95% CI = 78.9%-94.3%) at 1-year follow-up and persisted at 85.5% (95% CI = 74.7%-92.0%) across 5- and 10-year follow-up in the vertical subgroup. In contrast, seizure freedom decreased from 89.2% (95% CI = 86.3%-91.5%) at 1-year to 72.1% (95% CI = 66.9%-76.7%) at 5-year to 57.2% (95% CI = 46.6%-66.4%) at 10-year follow-up for the lateral subgroup. Log-rank test found that vertical hemispherotomy was associated with durable seizure-free progression compared to the lateral approach (p = .01). Patients undergoing the lateral hemispherotomy technique had a shorter time-to-seizure recurrence (hazard ratio = 2.56, 95% CI = 1.08-6.04, p = .03) and increased seizure recurrence odds (odds ratio = 3.67, 95% CI = 1.05-12.86, p = .04) compared to those undergoing the vertical hemispherotomy technique. SIGNIFICANCE: This pilot study demonstrated more durable seizure freedom of the vertical technique compared to lateral hemispherotomy techniques. Further studies, such as prospective expertise-based observational studies or a randomized clinical trial, are required to determine whether a vertical approach to hemispheric surgery provides superior long-term seizure outcomes.

18.
Epilepsy Res ; 177: 106773, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34564036

RESUMO

Focal cortical dysplasia (FCD) is a common pathology responsible for drug-resistant epilepsy (DRE). Failure to precisely localize the epileptogenic zones (EZs) is a major reason for poor surgical outcome in FCD. Currently, there are no molecular or cellular biomarkers available which can aid in defining the EZs in FCD. Phospholipid alterations between healthy and malignant tumor tissues are reported and have been used for marking tumor margins. In this study, we utilize liquid chromatography and tandem mass spectrometry to identify altered lipids in resected brain specimens from FCD patients compared to non-epileptic controls. Based on these results, we propose that a similar approach utilizing unique lipid mass spectra can be used for defining the EZs in FCD. The observed distinct lipid mass spectra of cortical tissues from FCD patients could be used for real-time guidance during surgery as well as for ex vivo examination of resected tissues for diagnostic purposes.

19.
Can J Neurol Sci ; : 1-5, 2021 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-34526163

RESUMO

Niemann-Pick disease type C (NPC), is a rare lysosomal storage disorder, which has a variable presentation based on the age of onset. We describe five adult/adolescent-onset NPC cases presenting with a range of movement disorders along with vertical supranuclear gaze palsy as part of the clinical presentation. A diagnostic delay of 4-17 years from the symptom onset was found in this case series. A high index of clinical suspicion in adult/adolescent patients presenting with vertical supranuclear gaze palsy along with various movement disorder phenomenology can help in the early diagnosis of NPC.

20.
Neurol India ; 69(4): 837-841, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34507398

RESUMO

Background: Hemispheric disconnection represents a challenging and major epilepsy surgical procedure. This procedure in experienced hands offers excellent results in terms of seizure outcomes, especially for hemispheric pathologies such as Rasmussen's encephalitis, hemispheric dysplasias, hemimegalencephaly. The technique of hemispherotomy has witnessed various modifications over the years, beginning from anatomical hemispherectomy to the current era of minimally invasive functional hemispheric disconnections. Objective: This study aimed to describe the technique of performing endoscopic vertical hemispherotomy using interhemispheric corridor developed by the senior author. Materials and Methods: A 12-year-old girl with seizure onset at the age of 10 years presented with an aura of fear and nausea followed by tonic deviation of eyes to the right and blinking with speech arrest. There were tonic-clonic movements of the right-sided limbs along with ictal spitting and occasional deviation of the angle of mouth to the right. The patient had loss of awareness for the event along with postictal confusion lasting few minutes. Results: Video electroencephalography (VEEG) revealed left parietocentral and left temporal localization. Serial magnetic resonance imaging (MRI) brain over 3 years revealed progressive left hemispheric changes suggestive of Rasmussen's encephalitis. The patient underwent left-sided endoscopic hemispherotomy. At 2 years follow-up, the patient is seizure-free (ILAE [International League Against Epilepsy] Class 1). Conclusion: Endoscopic hemispherotomy using the interhemispheric approach is an elegant, minimally invasive, reproducible, safe, and efficacious technique.


Assuntos
Epilepsia , Hemimegalencefalia , Hemisferectomia , Criança , Eletroencefalografia , Epilepsia/cirurgia , Feminino , Humanos , Imageamento por Ressonância Magnética , Resultado do Tratamento
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