A5075269392- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Cerebral Palsy and Movement Disorders
- Parkinson's Disease Mechanisms and Treatments
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- Metabolism and Genetic Disorders
- Neurological and metabolic disorders
- Neonatal and fetal brain pathology
- Epilepsy research and treatment
- Virology and Viral Diseases
- Genetics and Neurodevelopmental Disorders
- Syphilis Diagnosis and Treatment
- Neurological diseases and metabolism
- Neuroscience and Neural Engineering
- Genomics and Rare Diseases
- Anesthesia and Pain Management
- Pain Management and Treatment
- Autism Spectrum Disorder Research
- Vaccine Coverage and Hesitancy
- Youth Education and Societal Dynamics
- Immunodeficiency and Autoimmune Disorders
- Pharmaceutical studies and practices
- Cardiovascular Syncope and Autonomic Disorders
- Cardiac Arrhythmias and Treatments
Guy's and St Thomas' NHS Foundation Trust
2012-2025
Evelina London Children's Healthcare
2013-2025
Leeds Teaching Hospitals NHS Trust
2019
Sorbonne Université
2017
St Thomas' Hospital
2016-2017
Kings Health Partners
2017
Hôpital Necker-Enfants Malades
2017
St. Thomas Hospital
2012
Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene collectively known as neurodegeneration brain accumulation. These can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim this study was to define phenotype that is mutations WDR45, a new causative for accumulation located on X chromosome. subjects consisted WDR45 mutation-positive individuals identified after screening large...
The aim of this study was to examine the impact dystonia aetiology and duration, contracture, age at deep brain stimulation (DBS) surgery on outcome in a cohort children with medically refractory, disabling primary, secondary-static, or secondary-progressive dystonias, including neurodegeneration iron accumulation (NBIA).Dystonia severity assessed using Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor score baseline 6 12 months postoperatively 70 consecutive undergoing DBS between...
AP-4-associated hereditary spastic paraplegia (AP-4-HSP: SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset and mimic cerebral palsy. This study aims to define the spectrum brain MRI findings in AP-4-HSP investigate radioclinical correlations.We performed a systematic qualitative quantitative analysis 107 studies from 76 individuals with genetically confirmed correlation clinical including surrogates disease severity.We as disorder gray white matter demonstrate that abnormal...
Abstract Objectives Glutaric aciduria type 1 (GA1) is a rare autosomal recessive organic acidaemia caused by deficiency of the glutaryl-CoA dehydrogenase enzyme. We describe outcomes following deep brain stimulation (DBS) for management dystonia children and adults with glutaric (GA1). Methods Cases GA1 were identified from institutional databases two tertiary movement disorder services. Data extracted clinical records using standardised proforma, including baseline characteristics, imaging...
Deep brain stimulation (DBS) is a recognised method of treatment for primary and secondary dystonia. The size non-rechargeable batteries has limited their use in small children. Our severe dystonia patients have required battery replacement every 20-24 months.To evaluate reliability, care burden, patients' satisfaction complications related to the rechargeable neurostimulator Activa® RC (launched by Medtronic Europe autumn 2008).Complications were recorded prospectively, questionnaire on...
Aim To establish the prevalence of dystonic pain in children and their response to deep brain stimulation (DBS). Method Dystonic was assessed a cohort 140 children, 71 males 69 females, median age 11 years months (range 3y–19y 1mo), undergoing DBS our centre over period 10 years. The divided into aetiological dystonia groups: 1a, inherited; 1b, heredodegenerative; 2, acquired; 3, idiopathic. Motor responses were measured with Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS). Results...
The methylmalonic acidemias (MMAs) are a group of inborn errors metabolism resulting in the accumulation acid body tissues and fluids. A recognized complication MMA is bilateral liquefaction globus pallidi, fulminant total dystonia childhood often refractory to medical treatment. This case due 4-year-old boy had been medically for 15 months. Complete metabolic destructive that is, autopallidotomy, necessitated an alternative, subthalamic nucleus (STN) target deep brain stimulation (DBS) with...
Abstract There is a lack of imaging markers revealing the functional characteristics different brain regions in paediatric dystonia. In this observational study, we assessed utility [18F]2-fluoro-2-deoxy-D-glucose (FDG)-PET understanding dystonia pathophysiology by specific resting awake glucose metabolism patterns childhood subgroups. PET scans from 267 children with being evaluated for possible deep stimulation surgery between September 2007 and February 2018 at Evelina London Children’s...
OBJECT Intrathecal baclofen (ITB) is an effective management option for childhood hypertonia. Given the potential complications of implanted ITB pumps, trials are usually performed as part workup pumps. Two methods used trials, lumbar puncture (LP) and catheter insertion into intrathecal space. Little has been written to date on number positive in trials. This study aimed report outcomes hypertonia (dystonia, spastic, or mixed). METHODS A retrospective case notes review was conducted all...
<i>Background: </i>Deep brain stimulation hardware is constantly advancing. The last few years have seen the introduction of rechargeable cell technology into implanted pulse generator design, allowing for longer battery life and fewer replacement operations. Medtronic® system requires an additional pocket adaptor when revising a non-rechargeable such as their Kinetra® to Activa® RC. This item can, if it migrates superficially, become impediment recharging negate intended...