Correlation of Preoperative Functional Magnetic Resonance Imaging (fMRI) with Intraoperative Cortical Stimulation in Surgeries of Eloquent Brain Lesions.

Background: Direct Cortical Stimulation (DCS) represents the gold standard for mapping of eloquent brain cortex. However, DCS is an invasive and time-consuming procedure. fMRI has become a useful tool to delineate motor and sensory eloquent cortex from the areas of planned neurosurgical resection. In our study, we will be studying the reliability of preoperative imaging when compared with the intraoperative DCS. Objectives: The aim of this study was to assess the reliability of fMRI by comparing it with DCS. Methods and Materials: Thirty patients with eloquent cortex lesions were admitted. Preoperative fMRI sequences were loaded into a neuro-navigational system. Intraoperative motor mapping was done by DCS. The location of all cortical stimulated points was correlated with the cortical functional structures. Based on it, specificity, sensitivity, positive predictive value, negative predictive value of fMRI was calculated. Preoperative and postoperative Karnofsky score and MRC grading was then noted. Results: Concordance between fMRI and DCS was noted in 26 cases. Overall mean sensitivity, specificity, positive and negative predictive value of fMRI as compared to DCS was 95%, 92.48%, 85.56%, and 96.08%, respectively. Preoperative and Postoperative Karnofsky score stayed same in most of the cases [25/30]. Conclusions: DCS remains the gold standard for mapping eloquent cortex in-spite of its invasiveness, side effects such as seizures and cost concerns. Although fMRI cannot replace DCS, it can guide and increase the efficacy in resection, select high-risk patients for intraoperative monitoring, help in preoperative stratification of risk counseling and preservation of neurological status in eloquent brain lesions.

Analytical Method Validation for Estimation of Neurotransmitters (Biogenic Monoamines) from Cerebrospinal Fluid Using High Performance Liquid Chromatography.

Biogenic amine neurotransmitters such as serotonin and dopamine are essential for signaling in both central and peripheral nervous system. Their metabolism is a multistep pathway and any defect in this results in alteration in metabolites of serotonin 5-Hydroxyindole acetic acid (5HIAA) and dopamine homovanillic acid (HVA) and 3-O-Methyl Dopa (3-OMD). Estimation of these metabolites in cerebrospinal fluid (CSF) assists in diagnosis of neurotransmitter defects. Their estimation is technically demanding and is currently available only in referral centers. We aimed to optimize a method for analysis of 5HIAA, HVA and 3-OMD. A high performance liquid chromatography (HPLC) method with electro chemical detector (ECD) was standardized for estimation. Analysis for method validation, reference range verification and clinical correlation was performed. Linearity obtained for 5-HIAA, HVA and 3-OMD was 65.35-2615.0 nmoles/l, 68.62-2745.0 nmoles/l and 236.5-4730.0 nmoles/l respectively. The coefficient of variation for internal quality controls ranged from 5 to 14% and the external proficiency testing samples (n = 16) were within peer group range. CSF metabolite levels of samples for reference range analysis overlapped with age matched ranges reported in literature. Among the 40 suspected patients analyzed for clinical testing four were found to have a neurotransmitter defect. These patients were then confirmed with molecular testing and clinical correlation. The method is validated and can be adapted in a clinical laboratory with analytical competence in HPLC.

Mobile media exposure and use in children aged zero to five years with diagnosed neurodevelopmental disability.

OBJECTIVE: The present study was conducted to determine the extent of exposure to and use of mobile devices by children (aged 0-60 months) with a diagnosed neurodevelopmental disability. DESIGN: A self-report survey-based design was employed. SETTING: Questionnaires were administered at a tertiary care hospital in Mumbai, India. PARTICIPANTS: The study included a convenience sample of 423 children with a neurodevelopmental disability (aged 0-60 months). The self-report survey was administered to the parents of the children. RESULTS: Analyses showed that 92.7% (n = 392) of all respondents have smartphones. 61% (n = 258) of the respondents stated that their children used mobile devices before 2 years of age. 58% (n = 246) of the parents gave children devices while feeding. A statistically significant difference was found in the mobile media usage between groups of children with different diagnoses (p < 0.001). Children diagnosed with ASD appeared to spend the largest amount of time on mobile media (m = 180.44 mins), as compared to children included with other diagnoses. Of the diagnosed children, only 13.4% (n = 57) of parents were informed about the possible negative effects of media use by their paediatricians. CONCLUSION: The results suggest premature mobile media habits, frequent use and lack of awareness about the effects of mobile media usage among children diagnosed with a neurodevelopmental disability. We suggest there is a need to update recommendations for caregivers on the use of mobile media by young children with disability.Implications for rehabilitationThe usage and consequences of mobile media use differ based on the type of neurodevelopmental disorder diagnosis. Parents of children with neurodevelopmental disorders often use mobile media as a distraction while engaging in various activities themselves, this information helps identify times at which mobile media might be purposefully used by parents as distractorsThere is an urgent need for clinical guidelines regarding mobile media usage among young children with neurodevelopmental disorders.

'To reveal or to conceal'- Disclosure strategies in parents of children with epilepsy in India.

PURPOSE: Disclosure of epilepsy is a relevant but under-researched topic in epilepsy research. This study was done to assess the disclosure strategies in parents of CWE in a developing country with conservative culture. The study also assessed the influence of demographic factors and seizure characteristics on the choice of disclosure. Enablers and barriers behind disclosure and the consequences after disclosure were evaluated. METHODS: A cross-sectional analytical, self-report survey was done in 284 parents of CWE with the help of a semi-structured questionnaire over a 7-month period in the paediatric epilepsy clinic. Disclosure was considered present if epilepsy was revealed to two or more of the five target groups (extended family, school, friends, neighbours, and peers of children). Separate set of questions was given for reasons behind their choice and consequences after disclosure. For continuous variables, unpaired T test or Mann - Whitney U test between group and for categorized variables, Pearson's Chi square test or Fisher's exact test was used. RESULTS: 92.96 % of 284 subjects disclosed their child's epilepsy while 7.04% concealed. Demographic factors and seizure characteristics did not influence the disclosure choice. Most parents revealed to the extended family followed by teachers. Type of seizure was the commonest information revealed. The main reason behind disclosure was better acceptance of the child followed by safety while main barrier was considering epilepsy as private grief. 92.8% felt their children were better accepted after disclosure. CONCLUSION: Disclosure practices have improved in parents of CWE in India and well-being and safety of the child has overridden the fear of stigma and discrimination. This could be the first major step to bring epilepsy out of the shadows at national and global levels.

Paroxysmal Nonepileptic Events in a Pediatric Epilepsy Clinic.

AIMS: We aimed to study the frequency, age, and gender distribution of paroxysmal nonepileptic events (PNEs) in children referred to epilepsy clinic with the diagnosis of epilepsy. We also evaluated the therapeutic implications of correct diagnosis and co-existence of true epilepsy in this population. SETTINGS AND DESIGN: All new patients below 18 years attending the Pediatric epilepsy out-patient clinic of PD Hinduja hospital over 6 months were evaluated. MATERIALS AND METHODS: Patients with history of paroxysmal events characterized by abrupt changes in consciousness or behavior or movement were included. They were assessed on description of events aided by recorded videos. If the diagnosis was not confirmed by this preliminary evaluation, further investigations were advised. STATISTICAL ANALYSIS USED: Chi-square/Fisher's exact test was used to analyze differences between categorical variables and Kruskal-Wallis test between continuous variables. The data were analyzed by SAS University Edition. All significance tests were two-tailed with α <0.05. RESULTS: Two hundred new patients presenting with paroxysmal events were enrolled over 6 months. After diagnoses, 19% of these children had PNEs, 80% had epileptic events, and 1% remained undiagnosed. Common nonepileptic events seen were physiological in patients below 5 years and psychogenic in older children. Thirty-four percent of patients with PNEs were on anti-epileptic drugs (AEDs). After confirming nonepileptic attacks, only 2.6% patients needed AEDs for coexisting epilepsy which was statistically significant (P < 0.001) change in treatment. CONCLUSIONS: Epilepsy mimics are common in children and are often misdiagnosed causing undue stress. Correct diagnosis leads to a drastic change in management like withdrawal of drugs, commencing new treatment if needed, and appropriate referrals.

Prolonged Fever: An Atypical Presentation in MOG Antibody-Associated Disorders.

BACKGROUND: Myelin oligodendrocyte glycoprotein (MOG) antibody-associated demyelinating disorders (MOGAD) are increasingly being recognized in the pediatric age group. Over time, unusual presentations have expanded the clinical presentation. We report 12 cases of MOGAD where prolonged fever (PF) was an important part of the symptom complex during the course of the illness. METHODS: After initial recognition of this atypical clinical presentation, more patients were recruited over 2 years and followed up prospectively. RESULTS: Eight of twelve patients had no clinical/imaging evidence of demyelination until much later in the course. Three clinical presentations recognized were fever of unknown origin (4 of 12), aseptic meningitis (4 of 12), and PF seen concurrently with established acute demyelination syndrome (4 of 12). Leukocytosis, raised inflammatory markers, and cerebrospinal fluid pleocytosis were almost universal. The first two presentations frequently caused diagnostic confusion, as MOGAD was not considered until several weeks after disease onset. The third group was more a therapeutic conundrum on how to manage the PF. Early seizures without encephalopathy were not uncommon and were probably independent of the later-appearing demyelination. CONCLUSIONS: This case series highlights PF as an important component of the pediatric MOGAD symptom complex. MOGAD could be considered in the differential diagnosis of these clinical presentations.

Comparison of transferrin isoform analysis by capillary electrophoresis and HPLC for screening congenital disorders of glycosylation.

BACKGROUND: Transferrin, a major glycoprotein has different isoforms depending on the number of sialic acid residues present on its oligosaccharide chain. Genetic variants of transferrin as well as the primary (CDG) & secondary glycosylation defects lead to an altered transferrin pattern. Isoform analysis methods are based on charge/mass variations. We aimed to compare the performance of commercially available capillary electrophoresis CDT kit for diagnosing congenital disorders of glycosylation with our in-house optimized HPLC method for transferrin isoform analysis. METHODS: The isoform pattern of 30 healthy controls & 50 CDG-suspected patients was determined by CE using a Carbohydrate-Deficient Transferrin kit. The results were compared with in-house HPLC-based assay for transferrin isoforms. RESULTS: Transferrin isoform pattern for healthy individuals showed a predominant tetrasialo transferrin fraction followed by pentasialo, trisialo, and disialotransferrin. Two of 50 CDG-suspected patients showed the presence of asialylated isoforms. The results were comparable with isoform pattern obtained by HPLC. The commercial controls showed a <20% CV for each isoform. Bland Altman plot showed the difference plot to be within +1.96 with no systemic bias in the test results by HPLC & CE. CONCLUSION: The CE method is rapid, reproducible and comparable with HPLC and can be used for screening Glycosylation defects.

Emergency Surgery for Refractory Status Epilepticus.

BACKGROUND: Management of refractory status epilepticus in children is extremely challenging. CASE CHARACTERISTICS: Two children with medically refractory status epilepticus, both of whom had lesional pathology on MRI and concordant data on EEG and PET scan. INTERVENTION: Emergency hemispherotomy performed in both patients. A complete, sustained seizure freedom obtained postoperatively. MESSAGE: Emergency surgery is a treatment option in selected cases of drug refractory status epilepticus with lesional pathology and concordant data.

Partial Manifestation of Anti-NMDA-R Encephalitis with Predominant Movement Disorder.

Childhood anti-N-methyl-d-aspartate receptor (NMDA-R) antibody encephalitis is a well-recognized autoimmune encephalitis presenting typically with a combination of varied movement disorders, seizures, mutism, behavioral and sleep disturbances, and autonomic changes. Monosymptomatic or incomplete forms of the disorder are rare, but have recently been reported. Here, we describe 2 children with nonparaneoplastic anti-NMDA-R encephalitis with partial presentation in the form of movement disorder and minor behavioral changes.

GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients.

Bilateral frontoparietal polymicrogyria is an autosomal recessive cortical malformation associated with abnormalities of neuronal migration, white matter changes, and mild brainstem and cerebellar abnormalities. Affected patients present with delayed milestones, intellectual disability, epilepsy, ataxia, and eye movement abnormalities. The clinicoradiologic profile resembles congenital muscular dystrophy. However, no muscle disease or characteristic eye abnormalities of congenial muscular dystrophy are detected in these children. GPR56 is the only confirmed gene associated with bilateral frontoparietal polymicrogyria. Antenatal diagnosis is possible if the index case is genetically confirmed. Four patients from different Indian families with a distinct clinicoradiologic profile resembling congenital muscular dystrophy with mutations in the GPR56 gene are described.

Proposed International League Against Epilepsy Classification 2010: new insights.

The International League Against Epilepsy (ILAE) Classification of Seizures in 1981 and the Classification of the Epilepsies, in 1989 have been widely accepted the world over for the last 3 decades. Since then, there has been an explosive growth in imaging, genetics and other fields in the epilepsies which have changed many of our concepts. It was felt that a revision was in order and hence the ILAE commissioned a group of experts who submitted the initial draft of this revised classification in 2010. This review focuses on what are the strengths and weaknesses of this new proposed classification, especially in the context of a developing country.