Challenges for low middle-income people with epilepsy during the COVID-19 pandemic: Lessons learnt, call for action.

OBJECTIVE: The COVID-19 pandemic impacted the care of people with epilepsy (PWE). Several online surveys were conducted but there is limited data regarding the impact on low-income PWE from lower-middle income countries (LMICs) who have no access or ability to answer online surveys. The purpose of this interview was to understand the challenges faced by low-income PWE during the lockdown phase of the pandemic. METHOD: PWE visiting the epilepsy specialty outpatient department of a tertiary referral government hospital to avail of subsidized services were interviewed. In the interview, they discussed challenges in obtaining medical care, the impact on wellbeing, employment, and vaccination status during the lockdown phase of the pandemic. RESULTS: Out of the 214 PWE interviewed, 20.6% had increased seizure frequency, 28.9% did not have access to medication mainly due to travel restrictions, 30.5% reported lack of availability of medication and 50% were not able to afford the medication mainly due to loss of income. 51% were unable to have follow-up consultations. 36% reported worsening of mood and some reported impact on other aspects of wellbeing. The impact on wellbeing was significantly associated with an increase in seizure frequency (P < .05). The study revealed hesitation related to vaccines in the majority and expectations of financial support by the government and assistance for procuring medication. There was a lack of awareness about telemedicine services and the same was not adequately offered by government hospitals. SIGNIFICANCE: The study underscores the need to learn lessons from the challenging experiences of low-income PWE and create an action plan for the future to address the issues of lack of affordability of medical care and access to telemedicine. It is critical that the care of the marginalized, underrepresented PWE from lower-middle income countries is not neglected during a pandemic.

A Retrospective Analysis of Psychiatric Presurgical Evaluation of Children and Adolescents Evaluated for Epilepsy Surgery in a Comprehensive Epilepsy Care Unit of Mumbai.

Background Epilepsy being one of the most prevalent neurological diseases in children is associated with psychopathology and academic concerns. Epilepsy surgery is considered for refractory epilepsy at some centers in India and hence this study was undertaken to find out prevalence and type of psychopathology in children and adolescents with refractory epilepsy before epilepsy surgery. Methods All data were analyzed from the records of patients undergoing preepilepsy surgery protocol workup in comprehensive center of epilepsy care at a general municipal hospital in Mumbai. A record of 150 children and adolescents in the age group of 3 to 18 years over a period of 10 years was taken and all details of demographics, epilepsy, and psychopathology were recorded. Results The mean age for our sample was 11.4 ± 3.4 years and a male preponderance was seen. Majority (80%) of the children were pursuing education. The duration of seizure disorder was approximately 4.41 + 2.36 years and complex partial seizures were seen commonly in 50% of the children. Both magnetic resonance imaging (MRI) and video electroencephalography (VEEG) findings revealed right sided lateralization followed by left in majority of the patients. Psychopathology was seen in 70 (46%) patients with mental retardation, hyperkinetic disorders affecting attention and activity and oppositional defiant disorder, and unspecified mental disorder due to underlying brain damage being the type of International Classification of Disease-10th Revision (ICD-10) disorders seen. Patients with psychopathology showed a left-sided predominance on their MRI and VEEG findings for laterality of the epileptogenic focus as compared with right side. Conclusion Refractory seizures and associated psychopathology impact family life, friendships, and academics and worsen prognosis and quality of life. Screening for psychopathology in children with epilepsy would therefore lead to better outcomes especially prior to epilepsy surgery.

Progressive Myoclonic Epilepsy'-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation.

Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism due to mutations in the CYP27A1 gene. It presents with a diverse range of neurological and non-neurological symptoms. We present a case of CTX with a progressive myoclonic epilepsy (PME) like phenotype and a family history of CTX. The proband had a generalized epilepsy with prominent myoclonus. He also had intellectual decline, ataxia, bipyramidal dysfunction and peripheral neuropathy. The younger sibling had a milder generalized epilepsy without myoclonus along with behavioral issues, ataxia, neuropathy, and prominent tendon xanthomas. Both the siblings had developmental cataracts. MRI Brain of both had dentate hyperintensities with cerebellar atrophy. The proband's EEG showed severe background slowing with multifocal interictal discharges. Targeted gene of analysis proband revealed a novel homozygous 5' splice site variation in intron 3 of the CYP27A1 gene. We present a novel phenotype and genotype of CTX presenting with a syndrome of myoclonic epilepsy. This is the first PME-like presentation of CTX to the best of our knowledge. CTX may present with a PME-like clinical phenotype and should be considered as a treatable cause within the differential diagnostic evluation of syndromic epilepsies involving an atypical familial myoclonic epilepsy.

Rare and Treatable Cause of Early-Onset Refractory Absence Seizures.

Glut-1 transporter deficiency syndrome (GLUT1-DS) is a rare disorder caused by the mutation in SLC2A1 gene, which results in impaired glucose transport into the brain. It has a broad spectrum of phenotypic presentation ranging from cognitive decline, microcephaly, and refractory seizures to complex movement disorder. Recognition of this disorder is necessary as it is refractory to antiepileptic drugs (AEDs) and responds significantly to ketogenic diet. We report a case of 7-year-old girl who presented with paroxysmal eye movements in infancy with early-onset absence epilepsy (EOAE), which worsened in early morning and on fasting and was found to be refractory to four AEDs. She had mild developmental delay and subtle ataxia. Cerebrospinal fluid showed hypoglycorrhachia, and molecular analysis identified deletion in exon 4 of SLC2A1 gene (p.leu169del), thus confirming GLUT1-DS. She had a near-complete seizure control on ketogenic diet. Thus, GLUT1-DS should be suspected in all cases of refractory generalized seizures specially EOAE, especially if it worsens on fasting, is associated with development delay, positive family history, or paroxysmal movement disorder.