Publications by authors named "Renu Suthar"
Background: Intra-thecal Nusinersen has been approved for the treatment of Spinal muscular atrophy (SMA). Limited data is available regarding the efficacy and safety of Nusinersen in children with SMA type 2 and 3 from North India.
Objective: To study the efficacy and safety of Nusinersen among children with SMA type 2 and 3 from North India compared to standard of care (SOC) over 12 months.
Background: The standard treatment guidelines of neurocysticercosis have been described as per computed tomography (CT)-based studies. We aimed to prospectively study if posttreatment magnetic resonance imaging (MRI) clearance rates of neurocysticercosis were like those reported in literature using CT.
Methods: A prospective observational study in newly diagnosed children with neurocysticercosis was undertaken.
Objectives: The profile of seizures in neurocutaneous syndromes is variable. We aimed to define the characteristics of epilepsy in children with neurocutaneous syndromes.
Materials And Methods: Cross-sectional study over 18 months at a tertiary care pediatric hospital, including children with neurocutaneous syndromes aged between 1 and 15 years, using the 2017-International League Against Epilepsy classification.
Aim: Survey of treatment practices and adherence to pediatric status epilepticus (PSE) management guidelines in India.
Methods: This eSurvey was conducted over 35 days (15th October to 20th November 2023) and included questions related to hospital setting; antiseizure medications (ASMs); ancillary treatment; facilities available; etiology; and adherence to PSE management guidelines.
Results: A total of 170 respondents participated, majority of them were working in tertiary level hospitals (94.
Objectives: To elucidate the electroclinical characteristics of infantile epileptic spasms syndrome (IESS) and to determine any potential association among these with underlying etiologies and response to therapy.
Methods: Sixty-eight, treatment-naive children with IESS underwent long-term video electroencephalogram (EEG) recording, which was used to characterize the semiology, ictal, and inter-ictal EEG patterns. Children were further followed up to assess electroclinical predictors of etiologies and short-term therapeutic response.
Objectives: The objective of this study was to look at the clinical outcomes, and to determine the proportion of children with visual recovery after the first demyelinating event of optic neuritis (ON).
Methodology: In this observational study, children with the first clinical event of optic neuritis at an age less than 18 years were evaluated. High-contrast visual acuity, colour vision, Expanded Disability Status Scale (EDSS), Anti-MOG and AQP-4 antibodies were assessed.
Objectives: To evaluate the feasibility and efficacy of teleconsultation-based rehabilitation in children with Landry-Guillain-Barré syndrome (LGBS), measured with Medical Research Council (MRC) sum score and Hughes score.
Methods: A pragmatic, prospective, parallel open label randomized controlled trial was conducted among a total of 50 children with LGBS. The children were randomized using computer generated block randomization into 2 groups (25 in each group): Standard of care (Group A) and teleconsultation-based rehabilitation (Group B).
Article Synopsis
- Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are rare disorders affecting sensory and autonomic neurons, making them hard to study due to limited data.
- A large international study identified 80 new pathogenic variants in 73 families across known CIP/HSAN-related genes, expanding knowledge on these diseases.
- Advanced methodologies like in silico predictions and metabolic tests improved variant classification, crucial for guiding future gene-specific treatments in clinical trials.
Objective: Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children.
Methods: Between January 2021 and June 2022, this cross-sectional study was conducted at six centers in India.
This ambispective, observational study evaluated the impact of the COVID-19 pandemic on managing children with Infantile epileptic spasms syndrome (IESS) and the feasibility of telemedicine-based management for IESS. Caregivers of children with IESS were telephonically interviewed using a structured questionnaire and various relevant indices were compared between the study population and a pre-pandemic cohort from the same center. There was a significant increase in diagnostic lag during the pandemic (p = 0.
View Article and Find Full Text PDFThe neurodevelopmental outcomes in children with tuberous sclerosis complex (TSC) with epileptic spasms remain underdiagnosed and might be responsible for significant morbidity and mortality burdens, even after spasms abate. The study was a cross-sectional study over 18 months at a tertiary care pediatric hospital, involving 30 children with TSC who had epileptic spasms. They were assessed with Diagnostic and Statistical Manual of Mental Disorders-5 criteria for autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and intellectual disability (ID), and childhood psychopathology measurement schedule (CPMS) for behavioral disorders.
View Article and Find Full Text PDFBackground: Duchenne muscular dystrophy (DMD) is a rare progressive muscular disease that primarily affects boys. A lack of comprehensive care for patients living with DMD is directly associated with a compromised quality of life (QoL) for those affected and their caregivers. This disease also has a huge economic impact on families as its treatment requires substantial direct, indirect, and informal care costs.
View Article and Find Full Text PDFGlutaric aciduria type 1 (GA-1) is a treatable inborn error of metabolism caused by glutaryl-CoA dehydrogenase deficiency. This enzyme deficiency leads to accumulation of glutaric acid, 3-hydroxy glutaric acid, and glutaconic acid which are potentially neurotoxic. Patients with GA-1 have characteristic clinical and neuroimaging features that help us to clinch the diagnosis.
View Article and Find Full Text PDFIntroduction: Spinal muscular atrophy (SMA) is a neuro-muscular disorder caused by biallelic variations in Survival Motor Neuron 1 gene located on chromosome 5q13.2. It is the most common hereditary cause of neonatal death.
View Article and Find Full Text PDFObjectives: To compare the mean Likert (caregiver impression of change) and CAPUTE scores in children with ITS treated with daily injectable vitamin B12 alone versus injectable vitamin B12 with other multinutrients at 1 wk and 1 mo of therapy.
Methods: This was an open-label, active-controlled, assessor-blinded, noninferiority, randomized clinical trial. The participants included children aged 3 mo to 2 y with infantile tremor syndrome.
Article Synopsis
- Patients with primary antibody deficiency (PAD) are at risk for developing meningoencephalitis, which was found in 10.4% of a studied cohort, with varying types of PAD including X-linked agammaglobulinemia and common variable immunodeficiency.
- The mean age of onset was 9.3 years, with common symptoms being seizures and neurodevelopmental delays, often accompanied by low immunoglobulin levels and abnormalities seen in MRI scans.
- The study highlights a high rate of morbidity and mortality in these cases, suggesting that early diagnosis and treatment with immunoglobulin therapy may reduce the risk of neurological complications.
Article Synopsis
- Peripheral neuropathy is a common nerve problem in children with chronic kidney disease (CKD), especially those in more advanced stages.
- In a study of nearly 45 kids, most were boys around 8 years old, and many were in stage III of CKD.
- About 29% of the kids had nerve issues that didn't show symptoms (subclinical neuropathy), mainly affecting the motor nerves which help with movement.