Research

RESEARCH

Primary areas of interest

• Intractable seizures, Status epilepticus, Febrile seizures, Neurocysticercosis.
• Dietary therapies in epilepsy- ketogenic diet, modified Atkins diet, Low Glycemic index diet (first center in North India to start KD) also being started in other neurological conditions
• Evaluation & new therapies in SMA & DMD including stem cell therapy
• Early Diagnosis of Autism: ‘Learn the signs,Act Early’
• Neurodevelopmental disabilities: Multidisciplinary rehabilitation & Public health dimension

List of Funded Projects:

Completed:

• Randomized Placebo Controlled Trial of Gabapentin in Children with Spinal Muscular atrophy (PI:Dr Sheffali Gulati) Source of funding Institute Research Grant, AIIMS
• Effect of short term phenytoin monotherapy on bone mineral density in ambulatory epileptic children. Source of funding Institute Research Grant, AIIMS. (PI:Dr Sheffali Gulati)
• Model Injection Centres (MICs): A Program to improve injection practices in the country: An IndiaCLEN study. Source of funding USAID; (Site : PI and Central coordinating team member Dr Sheffali Gulati)
• Assessment of Injection Practices in India: An IndiaCLEN Program Evaluation Network study( CCT member) World bank and Ministry of Health
• Randomized Placebo Controlled Trial of Valproate in Children with Spinal Muscular atrophy (PI:Dr Sheffali Gulati) Institute Research Grant, AIIMS; 2008-2011 :Stopped the trial due to possible adverse event
• Randomized Placebo Controlled Trial of Valproate and levocarnitine in Children with Spinal Muscular Atrophy aged 2-15 years Institute Research Grant, AIIMS; 2012-14
• Network Co-ordinator and Site- Principal investigator; Neuro Developmental Disabilities among children in India – An INCLEN Study, Funding Agency: INCLEN, AUTISM SPEAKS & National Trust & Ministry of Social Justice & Empowerment, Principal Investigator: Dr MKC Nair Team leader: Dr. Narendra K. Arora, Duration: 2006-2008, Duration: (July 2006- Dec 2012)
• Co- investigator Task Force – IMD Newborn Screening for Congenital Hypothyroidism & Congenital Adrenal Hyperplasia : A multicentric Study”. ICMR 2007 onwards.(PI: Dr Madhulika Kabra)
• Neurocognitive and physical outcomes of infants with low birth weight and perinatal asphyxia at 2 yrs of age: ICMR Advanced Centre for Newborn Health Research (PI: Prof V K Paul, Prof AK Deorari, Dr Ramesh Agarwal Co-investigator Sheffali Gulati, Savita Sapra)
• Centre for Research in “Difficult to treat epilepsy: PI: Dr P S Chandra, Dr Manjari Tripathi, co-investigator Prof V K Paul , Dr Sheffali Gulati)From DBT, Ministry of Science and technology.
• Reprogramming of adult cell to develop Duchenne Muscular Dystrophy disease specific pluripotent stem cells. Funding agency Indo-Australian Biotechnology Fund, Duration June 2010-June 2013. PI: Dr Sujata Mohanty Co- Investigator: Dr Sheffali Gulati, Dr Madhulika Kabra)
• Generating trained manpower in the field of Reflexology and hence to validate reflexology in managing epilepsy by carrying out a multi center randomized clinical trial- In collaboration with north eastern state medical colleges DBT. PI: Dr K Dallal; co-investigator: Dr Sheffali Gulati, Dr Manjari Tripathi)
• Evaluation of the frequency of pleomorphisms affecting lead and mercury toxicity among children with Cerebral palsy. (Defence research & Development establishment, Gwalior, DRDO, Ministry of defence; PI: Dr Y K Gupta; Co-investigator: Dr Sheffali).
• Molecular characterisation and development of immunological based diagnostics for Naegleria fowleri, (PI: Dr B R Mirdha; Co-investigator: Dr Sheffali)
• Development of Training modules for parents and children with Autistic Spectrum Disorder(ASD)- A cross Sectional study ICMR PI: Dr Savita Sapra Co- investigator ¨Dr Sheffali Gulati
• A comprehensive approach for mitochondrial encephalomyelopathies in Indian patients. AIIMS 2012-2014 (PI Dr Madhumita Roy Chaudhury , Co- investigator: Dr Sheffali)

 

List of research work completed (Thesis indicated in brackets):

Epilepsy/seizures

• Comparative utility of ^99mTc HMPAO Single Photon Emission Computed Tomography with anatomical neuroimaging and EEG in childhood intractable epilepsy
• West syndrome and other Infantile epileptic encephalopathies: clinical response, etiology, neuroimaging,electroencephalography
• Intranasal midazolam vs rectal diazepam in acute childhood seizures ( MD Thesis)
• Febrile seizure prophylaxis: A randomised controlled trial to compare efficacy of oral clobazam with oral diazepam
• Prospective randomized controlled trial of single day praziquantel versus 28 days albendazole in 1-2 ring enhancing lesions in neurocysticercosis in children.
• Prospective randomized double blind controlled trial of dexamethasone versus albendazole on calcification as an outcome in 1-2 ring enhancing lesions in neurocysticercosis in children (DM Thesis)
• Tuberous sclerosis: Clinical profile and role of functional neuro-imaging.
• Clinical and neurodevelopmental profile in children with Tuberous sclerosis. (MD Thesis)
• Effect of ACTH treatment on serum levels of TNF-a, IL-6, & IL-2 in patients of infantile spasms. (DM Thesis)
• Effect of short term phenytoin monotherapy on bone mineral density in ambulatory epileptic children. (DM Thesis)
• Evaluation of ketogenic diet in infants and young children with refractory epilepsy. (DM Thesis)
• Blood ammonia levels in epileptic children on two dose ranges of Valproic acid monotherapy. (DM Thesis)
• The evaluation of thyroid functions and thyroid antibodies in children with epilepsy on valproate monotherapy. (DM Thesis)
• Noninvasive Screening for early preclinical Atherosclerosis in children on Phenytoin or Carbamazepine monotherapy for more than 18 months (DM Thesis)
• Intra-nasal vs. intra-venous lorazepam for control of acute seizures in children: Prospective open labeled randomized equivalence trial (DM Thesis)
• Effect of low dose oral folic acid supplementation on phenytoin induced gingival overgrowth: A randomized double blind controlled trial (DM Thesis)
• Randomized Open Label Comparative Study of Efficacy and Tolerability of Classical 4:1 versus 2.5:1 Ketogenic Diet in Intractable Epilepsy in Children Between 6 Months and 5 Years. (DM Thesis)
• Comparative Cross Sectional study of Heart Rate Variability in well controlled Vs. Refractory childhood epilepsy. (DM Thesis)
• Behaviour problem in children and adolescent with epilepsy prevalence and risk factors: a hospital based cross sectional study. (DM Thesis)
• Evaluation of the efficacy of the modified Atkins diet in children with refractory epilepsy: A Randomized control Trial.
• Evaluation of modified Atkins diet in patients with infantile spasms: A Pilot study.
• Study of the prevalence of genetic polymorphisms of UGT1A6 and their association with serum valproate levels in children on valproate monotherapy (DM Thesis)
• Efficacy of low glycemic index diet therapy in children with refractory epilepsy - A randomized controlled trial (DM Thesis)
• Neurodevelopmental and epilepsy outcome in children aged one to five years with infantile spasms, one or more years after onset- a cross sectional study (DM Thesis)
• To study the Prevalence of Genetic Polymorphisms of Cytochrome P450 CYP2C9 and their association with Drug levels in Children on Phenytoin Monotherapy (MD thesis ;Chief Guide: Dr Madhulika Kabra.)
• Effects of newer antiepileptic drugs in comparison with conventional antiepileptics on the trace element status of epileptic subjects. (Department of Pharmacology ) ( DM Clinical Pharmacology Thesis)
• Prevalence, clinical, electrographic, neuro-imaging features and treatment of epilepsy in children with Down syndrome: an observational study
• Electrographic abnormalities in children with single calcified Neurocysticercosis:A cross sectional study
• Sleep abnormalities and polysomnographic profile among children with drug resistant epilepsy
• Comparison of early versus late EEG in detection of epileptiform abnormalities among children with first unprovoked seizure: A longitudinal study.
• Effect on serum 25(OH)D3 levels & Bone marrow density in children aged 3-14 years with newly diagnosed epilepsy on 6 months of Valproate therapy-A prospective study
• Development and validation of AIIMS modified diagnostic instrument for Epilepsy & neuromotor impairment in children aged upto 18 years
• Efficacy of Ketogenic Diet, Modified Atkins Diet and Low Glycemic Index Therapy Diet among children with drug resistant epilepsy: A Randomised Non-Inferiority Trial

GDD/CP/MR

• A double blind placebo controlled trial to study the efficacy of Baclofen in reducing tone in children with spastic Cerebral palsy 2-5 years of age. (DM Thesis)
• Efficacy of modified constraint induced movement therapy for spastic cerebral palsy children with asymmetric motor impairment. (DM Thesis)
• A randomized, double-blind, placebo-controlled trial of donepezil on cognitive functioning in children with Fragile X syndrome. (DM Thesis)
• Surgery for drooling in children: Bilateral submandibular duct transposition and sublingual gland excision (Department of ENT). (M D Thesis)
• A study of Gastroesophageal reflux by scintigraphy and ultrasonography in developmentally delayed children. (M D Thesis)
• Etiological yield of comprehensive evaluation of Global developmental delay in young children. (M D Thesis)
• Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down Syndrome.(M D Thesis)
• A randomized controlled trial of mosapride versus metoclopramide for treatment of Gastroesophageal reflux in developmentally delayed children. (M D Thesis)
• Visual versus goniometric assessment of adductor and popliteal angles in infants with hypertonia (ICMR student fellowship)
• Providing insights into the mechanism of modified CIMT -a functional MRI based study
• Effect of Structured Weight bearing exercise programme on BMD in children with Cerebral Palsy

Neuromuscular

• Duchenne Muscular Dystrophy: Prevalence and Patterns of Cardiac involvement
• Randomized Placebo Controlled Trial of Gabapentin in Children with Spinal Muscular atrophy
• A randomized open label placebo controlled study of the effect of creatine supplementation on muscle P31 MRS spectra in Duchenne muscular dystrophy. (DM Thesis)
• Clinical and electrophysiological characteristics of childhood Guillain Barre syndrome: A cross sectional study.
• Evaluation of cardiac dysfunction in children with Duchenne’s muscular dystrophy. (M D Thesis)
• Comparative evaluation of expression of dystrophin, utropin and n-NOS in muscle and skin biopsy of patients with dystrophinopathies. (M D Thesis)
• Comparison of intermittent versus daily regime of prednisolone in ambulatory patients with Duchenne muscular dystrophy: an open label randomized controlled trial. (DM Thesis)
• Clinical and electrophysiological characteristics of peripheral neuropathy in HIV infected children over 5 years of age receiving antiretroviral therapy
• To study HR variability in children between 2 to 15 years of age with GBS. (MD Thesis)
• .Role of skin biopsy in diagnosing childhood muscular dystrophy(DM Thesis)
• Prevalence of electro-physiologically defined peripheral neuropathy in children with cystic fibrosis aged one to eighteen years, on vitamin E (twice the RDA) supplementation for at least six months (DM Thesis)
• Vincristine induced neuropathy in childhood ALL (Acute Lymphoblastic Leukemia) - Prevalence and electrophysiological characteristics.
• Inspiratory muscle training for chronic neuromuscular diseases in children and adolescents – a systematic review
• Telephone based follow up of children with Duchenne muscular dystrophy (DMD) (on standar of care therapy) aged > 5 years: How accurate is it to identify critical clinical events requiring face to face consultation?"
• Prevalence of smooth muscle dysfunction among children with Duchenne muscular dystrophy.

Others

• An approach to Neurometabolic disorders by simple metabolic screen (M D Thesis)
• Study of the Spectrum of Childhood Leukodystrophies, Correlation with Imaging, Spectroscopic and Biochemical Features. (M D Thesis)
• Molecular Genetic studies in patients with Leukodystrophy (Division of Genetics, PhD Thesis)
• Molecular Genetic studies in Indian children with Rett syndrome (Division of Genetics, PhD Thesis)
• To study the cognitive and behavioral profile of children with celiac disease before and after the introduction of a gluten free diet and the various neuropsychiatric manifestations of celiac disease. (MD Thesis)
• Study of etiological risk factor profile in Pediatric strokes (MD Thesis)
• Evaluation of genetic polymorphism in MTHFR gene (C677T) as a risk factor for neural tube defect in offsprings. (MD Thesis)
• Prevalence of spina bifida occulta in patients with enuresis and its relation to urodynamic and neurophysiologcal measurements (DM Thesis)
• Immunodiagnosis of Childhood Tubercular Meningitis by Detection of Antigens in Cerebrospinal Fluid using ELISA (DM Thesis)
• Comparison of full outline of unresponsiveness (FOUR) score and Glasgow Coma score in children aged 5-18 years with non traumatic impairment of consciousness in predicting outcome (inhospital mortality or functional outcome at discharge). (DM Thesis)
• Validation of new diagnostic instrument for epilepsy and neuromotor impairment including cerebral palsy among children aged 2-9 years. (DM Thesis)
• Blood heavy metal levels in children with autism and ADHD. A cross sectional study. (DM Thesis)
• Postnatal Maturation of Amplitude Integrated Electroencephalography in Small for Gestational Age Preterm Neonates: A Comparative Study ( Neonatology division, DM thesis Chief Guide : Dr Ramesh Agarwal)
• Indian adapatation & validation of Ages & Stages Questionnaire 3 as compared to standard reference test:Development Assessment for Indian Infants

• AIIMS modified INDT-ASD tool for Autism spectrum disorder based on DSM 5 criteria: development and validation
• AIIMS modified INDT-ADHD tool for ADHD based on DSM 5 criteria: development and validation
• Comparison of Blood 25-OH Vit D3 & other micronutrients levels between children with Autism Spectrum Disorder & Typically developing children:Analytical Cross sectional study
• Neurobehavioral profile of human immunodeficiency virus (HIV) infected children aged 1-10 years: A cross sectional study

 

Ongoing DM/MD thesis

1. Clinico-epidemiological profile and neurocognitive outcomes in children aged 6-16 years with traumatic brain injury
2. Comparison of serum 25 Hydroxy viramin D and trace elements levels between 6-18 year old ADHD and typically developing children and adolescents and their correlation with symptom severity and comorbidities: Analytical cross sectional study
3. Developing a tool to identify the early signs of Autism Spectrum Disorder in children 1-18 months of age; an observational study
4. Comparing the efficacy of virtual reality therapy with modified constraint induced movement therapy versus modified constraint induced movement therapy alone, for children with hemiparetic cerebral palsy aged ≥ 5-18 years- An open labeled, randomized controlled, parallel design, superiority trial
5. Comparison between efficacy of daily and intermittent low glycemic index therapy among children with drug resistant epilepsy aged 1-15 years: a randomized controlled non-inferiority trial
6. Validation of END-IT score in children aged 1 month to 14 years with convulsive status epilepticus
7. Inter-observer agreement between primary care physician and pediatric neurologist in classifying epilepsy among children aged one month to 18 years using AIIMS modified INDT EPI Tool according to ILAE 2017 classification
8. Comparison of serum 25 Hydroxy viramin D and trace elements levels between 6-18 year old ADHD and typically developing children and adolescents and their correlation with symptom severity and comorbidities: Analytical cross sectional study (Chief Guide: self)
9. Developing a tool to identify the early signs of Autism Spectrum Disorder in children 1-18 months of age; an observational study(Chief Guide: self)
10. Comparing the efficacy of virtual reality therapy with modified constraint induced movement therapy versus modified constraint induced movement therapy alone, for children with hemiparetic cerebral palsy aged ≥ 5-18 years- An open labeled, randomized controlled, parallel design, superiority trial (Chief Guide: self)
11. Comparison between efficacy of daily and intermittent low glycemic index therapy among children with drug resistant epilepsy aged 1-15 years: a randomized controlled non-inferiority trial (Chief Guide: self)
12. Clinico-epidemiological profile and neurocognitive outcomes in children aged 6-16 years with traumatic brain injury (Chief Guide: self)

DM Neurology thesis

Completed

1. “Impact of Controlled and  drug resistant epilepsy on Circadian Sleep rhythm :  a Case Control study " ( (Chief Guide: Dr Garima Shukla)

 

DM (Neonatology) thesis

Completed

1. Postnatal Maturation of Amplitude Integrated Electroencephalography in Small for Gestational Age Preterm Neonates: A Comparative Study (Chief Guide : Dr Ramesh Agarwal)

 

 

DM Clinical Pharmacology

Completed

1. Effect of ACTH treatment on serum levels of TNF-a, IL-6, & IL-2 in patients of infantile spasms. (Chief Guide: Professor Y K Gupta; completed)
2. Effects of newer antiepileptic drugs in comparison with conventional antiepileptics on the trace element status of epileptic subjects.(Chief Guide: Professor Y K Gupta)

DM Cardiology (On- going thesis):

1. To study the prevalence of cardiac channelopathies in children aged 5-18 years undergoing treatment for epilepsy (Co-Guide: self)

Msc Nursing

Completed

1. A study to find out the prevalence of depression in mothers of children with autism spectrum disorders.
2. To study the Quality of life in children with Cerebral palsy and their parents.

1. Effectiveness of structured teaching program on first aid measures for convulsion in improving the Knowledge of caregivers.

Departmental Projects (completed)

• Role of skin biopsy in childhood muscular dystrophies
• Prevalence of haemostatic abnormalities in epileptic children on valproate monotherapy: a cross sectional study (DM thesis)
• Prevalence of electrophysiologically defined peripheral neuropathy in children with chronic kidney disease stage IV and V: a cross sectional study (DM thesis)
• Estimation of prevalence of sleep problems in Autistic children in comparison to typically developing children ( MD thesis)
• Clinical spectrum of Psychogenic non epileptic events in children ( 6 -16 yrs)( MD thesis).
• A study of subtelomeric imbalances in children with idiopathic mental retardation using real time PCR (Division of Genetics,PhD thesis)
• A study of Genomic rearrangements in Indian Children with Idiopathic MR using whole genome CGH array (Division of Genetics, PhD thesis)
• Mutation analysis and association of biomarkers in patients with Mucopolysaccharidosis type I, II and III. ( Division of Genetics, PhD thesis, Chief Guide: Dr Madhulika)
• Molecular genetic studies in indian families with autosomal recessive Nonsyndromic hearing loss. ( Division of Genetics, PhD thesis, Chief Guide: Dr Madhulika)

Collaborative Projects completed

• Randomized Controlled Trial of early vs late surgery in childhood intractable epilepsy patients in India (Department of Neurology). (PhD Thesis)
• Evaluation of reflexology as an adjunctive therapy in children with spastic cerebral palsy (Department of biophysics).(PhD Thesis)
• To develop and characterize Duchenne Muscular Dystrophy disease specific induced pluripotent stem cells from adult cells (ORBO). (PhD Thesis)
• Evaluation of reflexology as an adjunctive therapy in children with intractable epilepsy including West syndrome (Department of biophysics). (PhD Thesis)
• Pharmacokinetic and pharmacodynamic interaction of ayurvedic medication with antiepileptic drugs: an experimental and clinical study. (Department of pharmacology ) (PhD Thesis)
• Evaluation of frequency of polymorphism affecting lead and mercury toxicity among children with cerebral palsy. (Department of Pharmacology )
• A randomized comparative study between use of botulinum toxin injection and single event multilevel surgery (SEMLS) in children with spastic Cerebral palsy. ( Department of Orthopedics) ( MS Thesis)
• “Impact of Controlled and drug resistant epilepsy on Circadian Sleep rhythm : a Case Control study " ( DM ( Neurology thesis, Chief Guide: Dr Garima Shukla)

Ongoing Projects

• Blood heavy metal levels and quantitative EEG in children with Autism- A cross sectional study. (PI)( ICMR)
  • Indian Adaptation and Validation of the adapted ASQ-3 (Ages and Stages Questionnaire) as a developmental screening tool as compared to reference standard tool (DASII- Developmental Assessment Scale for Indian Infants) in Indian children 2 to 24 months of age: A multicentric study;ICMR approved in July 2014 (PI)
  • A Multi-centre, Randomized, Double-blind, Placebo- controlled Trial to Evaluate the effects of Intra- Erythrocyte Dexamethasone Sodium Phospate on Neurological Symptoms in patients with Ataxia Telangiectasia, sponsored by EryDel SpA (Site PI)
  • A Randomized, Double-blind, placebo-controlled, six-month study to evaluate the efficacy , safety of sarizotan in patients with Rett Syndrome with respiratory symptoms by Newron Pharmaceuticals (Site PI)
  • Comparative analysis of predominant  gut micro flora and their metabolites in autistic versus normal children for probiotic interventions
  • Understanding and improving the non verbal biomarkers of object perception in autistic subjects
  • Development & validation of a scalable mobile platform for screeing of developmental neuropsychiatric disorders in low-resource settingssettings: START-Screening Tools for Autism Risk using Technology(Site PI) (MRC Foundationaward Scheme,UK)
  • COMPASS: Communication-focused parent-mediated treatment for Autism Spectrum Disorder in South Asia trial
  • Virtual Reality based Collaborative and Interactive Learning Platform with Cognitive Load Estimation for Individuals with Learning Disabilities
  • Childhood Epilepsy and ADHD comorbidity in an Indian tertiary medical center outpatient population
  • Serum SICAMS and MMP9/TIMP-1 ratio: Potential predictors of disease activity in children with encephalopathy with electrical status in sleep (ESES) syndrome.
  • A Phase 3, Randomised, Double blind, Placebo-controlled efficacy and safety study of Ataluren in patients with non sense mutation Duchenne Muscular Dystrophy and Open label extension(Site PI)
  • Impact of advanced paternal age and poor lifestyle on sperm epigenome: possible etiology in Autism Spectrum Disorder;(Co- Investigator; DBT):Dr Sheffali Gulati (Department of Anatomy)

 

• Iinherited cause of Intellectual disability (Co-Investigator; DBT) 

• Health related quality of life of children (aged 3 to 12 yrs) with autism (fulfilling DSM-5 criteria)
• Effect of weighted compression Vest on hyperactivity of children aged 6-9 years diagnosed   autism by DSM-5 (with IIT Delhi).
• The pathways to cure for Autism Spectrum Disorders (with PHFI)
• Whole Child concept for screening children with developmental difficulties (Chadis, USA)
• Childhood Epilepsy and ADHD comorbidity in an Indian tertiary medical center outpatient population
• Diagnostic and treatment gap in Neurodevelopmental Disorders in children aged 1month to 18 years: An observational study

 

Submitted Projects:

 

1. Intra-venous autologous bone marrow derived expanded stromal cells infusion in patients with cerebral palsy((Co-Investigator: DBT)

2. Co- Investigator in: Sequencing Target- Genes aimed at Neuromuscular Disorders in India (STAND-INDIA): Musular Dystrophies diagnosis based on next generation genomics approaches and development of Indian population specific gene panel for rapid and cost-effective diagnosis. Principal Investigator: Dr. Mehar Chand Sharma  ( with Department of Pathology)
3. Understanding and improving the non verbal biomarkersof object perception in autistic subjects(with IIT) 

4. Virtual Reality based Collaborative and Interactive Learning Platform with Cognitive Load Estimation for Individuals with Learning Disabilities (with IIT Gandhinagar)