Teleneurology based management of infantile spasms during COVID-19 pandemic: A consensus report by the south Asia allied west syndrome research group

With telehealth services rescuing patients with chronic neurological disorders during the COVID-19 pandemic, there is a need for simplified teleneurology protocols for neurological disorders in children. Infantile spasms is an epileptic encephalopathy where treatment lag is a significant predictor of outcome. It is one such condition where telemedicine can make a remarkable difference when in-person consultations are delayed or are not possible. However, the adverse effect profile of the first-line therapeutic options, the need for frequent follow-up, underdeveloped telemedicine services, lack of a rational protocol, poor awareness about infantile spasms, a lesser level of parental understanding, and scarcity of pediatric neurologists are the major hurdles in developing countries. This paper provides a teleneurology based approach for the management of infantile spasms in developing countries during the COVID-19 pandemic. The cornerstones of this approach include the fundamental principles of management of infantile spasms, decentralization of patient care to local health providers, efforts for improving sensitivity and specificity of diagnosis, early initiation of first-line therapeutic options, and constant motivation of parents and local health providers to be vigilant for therapeutic response, adverse effects of therapy, and infections

Gillespie syndrome in a South Asian child:a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

Abstract Background Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. Case presentation A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. Conclusion The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members

EpiNet as a way of involving more physicians and patients in epilepsy research: validation study and accreditation process

Objective EpiNet was established to encourage epilepsy research. EpiNet is used for multicenter cohort studies and investigator‐led trials. Physicians must be accredited to recruit patients into trials. Here, we describe the accreditation process for the EpiNet‐First trials. Methods Physicians with an interest in epilepsy were invited to assess 30 case scenarios to determine the following: whether patients have epilepsy; the nature of the seizures (generalized, focal); and the etiology. Information was presented in two steps for 23 cases. The EpiNet steering committee determined that 21 cases had epilepsy. The steering committee determined by consensus which responses were acceptable for each case. We chose a subset of 18 cases to accredit investigators for the EpiNet‐First trials. We initially focused on 12 cases; to be accredited, investigators could not diagnose epilepsy in any case that the steering committee determined did not have epilepsy. If investigators were not accredited after assessing 12 cases, 6 further cases were considered. When assessing the 18 cases, investigators could be accredited if they diagnosed one of six nonepilepsy patients as having possible epilepsy but could make no other false‐positive errors and could make only one error regarding seizure classification. Results Between December 2013 and December 2014, 189 physicians assessed the 30 cases. Agreement with the steering committee regarding the diagnosis at step 1 ranged from 47% to 100%, and improved when information regarding tests was provided at step 2. One hundred five of the 189 physicians (55%) were accredited for the EpiNet‐First trials. The kappa value for diagnosis of epilepsy across all 30 cases for accredited physicians was 0.70. Significance We have established criteria for accrediting physicians using EpiNet. New investigators can be accredited by assessing 18 case scenarios. We encourage physicians with an interest in epilepsy to become EpiNet‐accredited and to participate in these investigator‐led clinical trials

Current Practice Febrile

Febrile seizures (FS) are the most common seizure disorder in childhood. Studies from the developed world report 2-5 % of all children between the ages of 6 months to 5 years being affected. Although 6 months is considered as the lower age limit by many paediatricians, the National Institute of Health (NIH) and International League Against Epilepsy (ILAE) definitions on febrile seizures use a lower age limit of 3 months and 1 month respectively 1,2. It is defined as a seizure occurring in the context of a febrile illness, not secondary to a central nervous system (CNS) infection or an altered metabolic state in children who have not had neonatal or previous afebrile seizures. There are two main clinical forms: simple febrile seizures which are a single episode of generalised tonic clonic seizures lasting less than 10-15 minutes, occurring during the first 24 hours of a febrile illness. Majority (70-75 %) of FS are of this type. Those lasting longer or occurring after the first 24 hours or having multiple seizures during the same febrile illness or convulsions affecting one side of the body or occurrence of focal neurological deficits are called complex febrile seizures (9-35%). There is a third form which is febrile status epilepticus (FSE) and this constitutes 5 % of all FS. The phenotype of FS is not well defined; though in the NIH and ILAE definitions they are called an ‘event’, classically FS are generalised tonic clonic convulsions. Two conditions that may mimic FS in this age group are convulsions with gastroenteritis and febrile myoclonus. The first initially described amongst Asian children comprises convulsions that occur during gastroenteritis. These show similar presentation and characteristics to FS such as age of presentation, associated family history and recurrences 3. However, they tend to cluster more often, are less associated with a family history and have a lower rate of recurrence compared to FS. Febrile myoclonus is myoclonic seizures occurring during a febrile illness in a neurologically norma

Viral aetiologies of acute encephalitis in a hospital-based South Asian population

Abstract Background The aetiological spectrum of acute encephalitis shows inter- and intra-geographical variations. We aimed to identify the viruses that cause infectious encephalitis in Sri Lanka, which represents a South Asian population. Methods A cross-sectional study was conducted among 99 patients with encephalitis/meningoencephalitis admitted to two tertiary-care hospitals in Colombo. Cerebrospinal fluid and serum were tested for conventional and emerging encephalitogenic viruses. Specific nucleic acid amplification and antibody assays were used to identify viruses. Plaque reduction neutralization test was done to confirm the diagnosis of West Nile virus (WNV). Results Patients’ age ranged from 1 month to 73 years (mean = 24.91; SD = 21.33) with a male:female ratio of 1.75:1. A viral aetiology was identified in only 27.3%. These included dengue virus (40.7%), Japanese encephalitis virus (25.9%), varicella zoster virus, WNV and probable Epstein Barr virus (11.1% each). None were positive for herpes simplex viruses or cytomegalovirus. Screening for bacterial aetiologies was negative for all patients. There were no distinguishable clinical or laboratory findings between the different viral aetiologies. The case fatality rate was 7%, which was higher among patients with an identified viral aetiology. Conclusions A viral aetiology was identified in only about a quarter of patients with encephalitis. Dengue virus accounted for the majority