Suvasini Sharma

Lady Hardinge Medical College | LHMC · Department of Pediatrics

Objectives To characterize the effects of sudden unexpected death in epilepsy (SUDEP) counselling on epilepsy-related childcare behaviour and practices, and emotional distress, measured by the Depression, Anxiety and Stress scale-21 (DASS-21), among parents of children with epilepsy (CWE), and to obtain feedback about SUDEP counselling. Methods We...

Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare, inherited disorders of manganese transport. We aimed to describe clinical, laboratory features and outcomes among children with HMNDYT. We conducted a retrospective multicentre study involving tertiary centres across India. We enrolled children between 1 month‐18 years of age with ge...

Background: Subacute sclerosing panencephalitis is a progressive devastating condition due to persistence of mutant measles virus, affecting children and adolescents, characterised by myoclonus, seizures, and neuropsychiatric issues. Movement disorders apart from myoclonus are reportedly uncommon. We aimed to describe frequency and proportion of mo...

Justification: Febrile seizures (FS) are quite common in children but there are controversies in many aspects of their diagnosis and management. Methods: An expert group consisting of pediatric neurologists and pediatricians was constituted. The modified Delphi method was used to develop consensus on the issues of definitions, investigations. Th...

TRAPPC4-related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (MIM# 618741) is a recently described TRAPPopathy with clinical findings of developmental delay, seizures, postnatal microcephaly, spasticity, facial dysmorphism, and cerebral and cerebellar atrophy. Muscle involvement, a frequent finding in TRAPPopathies, was...

A large proportion of children under the age of five years who do not attain their expected developmental potential belong to low- and middle-income countries (LMICs). The strategies used for identifying children with high risk for developmental delay/disorders include developmental screening, surveillance, and monitoring. Suitability criteria for...

Objective: The objective of this study was to determine the diagnostic accuracy of "Monitoring Child Development in the Integrated Management of Childhood Illnesses Context" (MCDIC) for developmental screening of Indian children younger than 3 years. Method: A hospital-based study of diagnostic accuracy was conducted over 17 months after obtaini...

Importance Overall, immunotherapy has been shown to improve outcomes and reduce relapses in individuals with N-methyl-d-aspartate receptor (NMDAR) antibody encephalitis (NMDARE); however, the superiority of specific treatments and combinations remains unclear. Objective To map the use and safety of immunotherapies in individuals with NMDARE, ident...

Biallelic variants in CARS2 (Cysteinyl-tRNA synthetase 2; MIM*612800), are known to cause combined oxidative phosphorylation deficiency 27 (MIM#616672), characterized by severe myoclonic epilepsy, neuroregression and complex movement disorder. Till date, six individuals from five families have been reported with variants in CARS2. We herein present...

Aim To compare the demographic, clinical, laboratory and radiological parameters of patients with different clinical outcomes (death or discharge) and analyse them to find out the potential predictors for mortality in children hospitalised with SARS-CoV-2 infection. Methods Retrospective chart review of all patients less than 18 years of age with...

Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis. Chromosomal microarray (CMA)...

Multilocus disease-causing genomic variations (MGVs) and multiple genetic diagnoses (MGDs) are increasingly being recognised in individuals and families with Mendelian disorders. This can be mainly attributed to the widespread use of genomic tests for the evaluation of these disorders. We conducted a retrospective study of families evaluated over t...

Ketogenic dietary therapies (KDTs) have been in use for refractory paediatric epilepsy for a century now. Over time, KDTs themselves have undergone various modifications to improve tolerability and clinical feasibility, including the Modified Atkins diet (MAD), medium chain triglyceride (MCT) diet and the low glycaemic index treatment (LGIT). Anima...

Objective To create an international consensus treatment recommendation for pediatric NMDA receptor antibody encephalitis (NMDARE). Methods After selection of a panel of 27 experts with representation from all continents, a 2-step Delphi method was adopted to develop consensus on relevant treatment regimens and statements, along with key definitio...

Introduction: Scoring systems to predict outcomes in pediatric status epilepticus (SE) are limited. We sought to assess usefulness of the END-IT score in pediatric SE. Methodology: We conducted a retrospective study at a tertiary hospital in New Delhi, India. Children aged 1 month-18 years who presented with seizure for ≥5 min/actively convulsin...

Objectives To detail the spectrum of movement disorders (MD) among children with cerebral palsy (CP) and assess impact on functional status. Methods In this cross-sectional study, children with CP were recruited and examined for various MDs. Tone abnormality was assessed using Hypertonia Assessment Tool (HAT), functional status using Gross Motor F...

Objective To assess the point prevalence of peripheral neuropathy (PN) in children with type 1 diabetes mellitus (T1DM) and to determine their predictors.Methods In this cross-sectional study, children aged 8–18 y with T1DM on insulin therapy for > 2 y and free from acute complications were enrolled. All participants were evaluated for symptoms of...

The Autism Dysmorphology Measure is designed for non-expert clinicians. It uses an algorithm to assess 12 body regions and categorizes Autism on the number of dysmorphic regions identified; Essential (≤ 3), Equivocal (4–5) or Complex (≥ 6). We evaluated 200 Indian children with Autism (mean age 3.7 years) in a hospital-based cross-sectional study a...

Children affected by tuberculous meningitis (TBM), as well as their families, have needs that lie at the intersections between the tuberculosis and meningitis clinical, research, and policy spheres. There is therefore a substantial risk that these needs are not fully met by either programme. In this narrative review article, we use the World Health...

Objectives: We aimed to evaluate the efficacy of the modified Atkins diet in children with epileptic spasms who had failed hormonal therapy. Methods: Children aged 9 months to 3 years having daily epileptic spasms despite a trial of ACTH or oral prednisolone and 1 additional anticonvulsant medication were enrolled. Children were randomly assigned...

Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy along with refractory status epilepticus. We report a case of a premature neonate presenting with refractory seizures since 2 hours of life. The baby showed initial transient response to pyridoxine followed by recurrence. Genetic report confi...

The first sentence of last paragraph, column 1, page 61 should read: “In the 2004 United Kingdom Infantile Spasms study, spasm freedom was achieved in 70% of children taking high dose oral prednisolone (40–60 mg/day) and 76% of children taking ACTH (40 IU/alternate day) [21]” instead of “In the 2004 United Kingdom Infantile Spasms study, spasm free...

Biotin-thiamine-responsive basal ganglia disease is a rare, autosomal recessive, treatable, neurometabolic disorder associated with biallelic pathogenic variations in the SLC19A3 gene. The condition may present as an early-childhood encephalopathy, an early-infantile lethal encephalopathy with lactic acidosis, with or without infantile spasms, or a...

Psychogenic non-epileptic seizure (PNES) is a common disorder that imitates epileptic seizures and has its etiological roots in psychological distress. Due to its “epileptic” similarity, it is often dealt with not only by mental health professionals but also by physicians, pediatricians and neurologists. There is a growing consensus towards the psy...

Objective To assess the diagnostic accuracy of Parent’s Evaluation of Developmental Status (PEDS), PEDS Developmental Milestones (PEDS:DM) and PEDS Combined for developmental screening of Indian children aged less than 2 y.MethodA hospital-based study of diagnostic accuracy was conducted over 17 mo. Children under 24 mo (n = 180) were enrolled afte...

Objective To compare intravenous methylprednisolone (IVMP) with oral prednisolone (OP) for the treatment of West syndrome.Methods In this randomized, open-label trial, children aged 2 to 30 mo presenting with epileptic spasms with hypsarrhythmia or its variants on EEG were randomized to receive either IVMP (30 mg/kg/d for 3 d followed by oral predn...

Justification: West syndrome is one of the commonest causes of epilepsy in infants and young children and is a significant contributor to neurodevelopmental morbidity. Multiple regimens for treatment are in use. Process: An expert group consisting of pediatric neurologists and epileptologists was constituted. Experts were divided into focus grou...

Although genetic variation is a major risk factor of neurodevelopmental disorders, environmental factors during pregnancy and early life are also important in disease expression. Animal models demonstrate that maternal inflammation causes fetal neuroinflammation and neurodevelopmental deficits, and brain transcriptomics of neurodevelopmental disord...

Objectives In this pilot study, the authors developed and evaluated a working memory intervention (WMI) using a combination of mobile phone-based application and an activity booklet, among children with idiopathic generalized epilepsy. Methods Pre- and post-intervention cognitive evaluation at 8 wk included: subtests comprising working memory index...

Although acquired manganese neurotoxicity has been widely reported since its first description in 1837 and is popularly referred to as “manganism,” inherited disorders of manganese homeostasis have received the first genetic signature as recently as 2012. These disorders, predominantly described in children and adolescents, involve mutations in thr...

Sudden unexpected death in epilepsy (SUDEP) is a devastating complication in children with epilepsy. Children with generalized tonic-clonic convulsions, nocturnal seizures, and co-morbid developmental delay/intellectual disability are at higher risk of SUDEP. The pathogenic mechanisms are incompletely understood and involve cardiac, respiratory, au...

Sudden unexpected death in epilepsy (SUDEP) remains an important cause of epilepsy-related mortality, especially in patients with refractory epilepsy. The exact cause is not known, but postictal cardiac, respiratory, and brainstem dysfunctions are implicated. SUDEP prevention remains a big challenge. Except for low-quality evidence of preventive ef...

Objectives: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognised. We aimed to investigate this paucity of diagnoses. Methods: We undertook weighted burden analysis of whole-exome sequencing data from 138 individuals with unresolv...

Argininemia or hyperargininemia is a urea cycle disorder caused by deficiency of the enzyme arginase 1. It is inherited in an autosomal recessive fashion. It commonly leads to spastic diplegia in childhood, but other important features include cognitive deterioration and epilepsy. Unlike other disorders of the urea cycle, hyperammonemia is not prom...

Context: Autoimmune encephalitis has acquired immense significance as a treatable cause of encephalopathy, epilepsy and movement disorders in children. In this review, we discuss the various clinical syndromes, diagnosis, treatment and prognosis in children. Evidence acquisition: A MEDLINE search strategy using the following terms (1998-2019) was a...

Status epilepticus(SE) is a common neurological emergency in childhood associated with high mortality and morbidity. Acute management of seizures along with aggressive evaluation for establishing the underlying cause are crucial determinants of outcome. Neonatal status epilepticus carries the burden of poor neurological outcomes and may lead to glo...

Objective: We sought to determine the molecular etiology of disease in four individuals from two unrelated families who presented with proximal muscle weakness and clinical features suggestive of mitochondrial disease. Background: Next-generation sequencing has provided significant advantages in the diagnosis of disorders disrupting energy metaboli...

Purpose Neonatal hypoglycemic brain injury (NHBI) is being increasingly recognized as an important cause of drug resistant childhood epilepsy in low resource settings. We report the electro-clinical spectrum of children with epilepsy secondary to NHBI. Methods This was a retrospective study of children enrolled in the Epilepsy Clinic from January...

Sudden unexpected death in epilepsy (SUDEP) is a devastating complication in children with epilepsy. Children with generalized tonicclonic convulsions, nocturnal seizures, and co-morbid developmental delay/intellectual disability are at higher risk of SUDEP. The pathogenic mechanisms are incompletely understood and involve cardiac, respiratory, aut...

Movement disorders are one of the important neurological manifestations of inherited metabolic disorders. Important clues to the presence of an underlying inborn error of metabolism are early onset, presence of neuroregression or degeneration, parental consanguinity, sibling affection, paroxysmal events, waxing and waning course, skin or hair chang...

Objectives This cross‐sectional study was designed to test the applicability of the 1989, 2010 and 2017 International League Against Epilepsy (ILAE) classification of epilepsy in children from a resource limited setting in India. Methods Classification of seizure types and syndromes was done through parental interviews and review of medical record...

Movement disorders in childhood comprise a heterogeneous group of conditions that lead to impairment of voluntary movement, abnormal postures, or inserted involuntary movements. Movement disorders in children are frequently caused by metabolic disorders, both inherited and acquired. Many of these respond to vitamin supplementation. Examples include...

Objective: To assess clinical profile and short term treatment outcomes of pediatric status epilepticus (SE) at a tertiary-care center in northern India. Methods: Prospective cohort study enrolled children aged 1 month to 18 years presenting with SE to the emergency department. Enrolled children (109) were treated as per hospital protocols. Clin...

Leigh syndrome is a clinically and radiologically heterogeneous condition with approximately 75 genes, nuclear and mitochondrial, known to be implicated in its pathogenesis. Leigh syndrome due to complex II deficiency constitutes 2% to 7% of these cases. Previously, nine individuals with Leigh syndrome have been reported with pathogenic variants in...

Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by MFF (mitochondrial fission factor) gene mutation is a rare neurogenetic disorder. Pathogenic MFF mutations have been described in three reports in literature till date. We report a young child of Indian descent who presented to us with global developmental followed by...

Objectives: To assess the neurodevelopmental outcome of West syndrome (WS) in Indian children, who differ in their clinical profile from the western population. Materials and methods: This cross-sectional study enrolled children aged 2--5 years with prior diagnosis of WS between November 2013 and March 2015. They were assessed for epilepsy outco...

Nearly 20–40% of patients with epilepsy are likely to have drug resistant epilepsy (DRE). Add-on antiseizure drugs do not produce optimal seizure control in these patients. Among the non-pharmacological options, only resective surgery is curative. However, a large majority of patients are not candidates for resective epilepsy surgery. For these chi...

Background: Menkes disease is an X-linked neurodegenerative disease caused by mutation in ATP7A gene, which codes for copper-transporting ATPase. It usually presents in early infancy with neuro-regression, hypotonia, seizures, and kinky hair. Magnetic resonance imaging (MRI) of the brain shows cerebral atrophy, subdural effusions, and tortuous cer...

Introduction The ketogenic diet (KD) is used for drug-resistant epilepsy. However, some patients find only a modest benefit, which may plateau over time. Evidence from several animal and human studies suggests that polyunsaturated fatty acids (PUFAs) may be a beneficial form of treatment for these patients. This retrospective study was conducted to...

Tubercular meningitis (TBM) continues to be a common cause of neuromorbidity in children. There is no single diagnostic method that can rapidly detect Mycobacterium tuberculosis (M.tb) in TBM patients with high sensitivity and specificity. Newer diagnostic modalities like Xpert/RIF assay and Loop mediated isothermal amplification assay (LAMP) have...

Objective: To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic POLR1C pathogenic variants. Methods: A cross-sectional observational study involving 25 centers worldwide was conducted. Clinical and molecular information was collected on 23 unreported and...

Drug-refractory epilepsy is a commonly prevalent pediatric neurological illness of global significance. Ketogenic diet (KD) is a time-tested therapeutic modality for refractory epilepsy, which has reemerged as a robust alternative to anti-epileptic pharmacotherapy. There is a growing body of evidence which supports the anti-seizure efficacy, safety...

Objective To determine the diagnostic accuracy of Indian Scale for Assessment of Autism (ISAA) in children aged between 2–5 years. Design Study of diagnostic accuracy Setting Tertiary level hospital, (November 2015–November 2017). Participants A consecutive sample of 500 children with suspected Autism (delay or regression of developmental milest...

Injection vincristine is an important component of therapy for acute lymphoblastic leukemia (ALL). An important adverse effect of vincristine is neurotoxicity. The incidence of this adverse effect is well studied. The present was undertaken to determine the incidence of vincristine-induced neurotoxicity in children with ALL after the induction of r...