A5012454732- Acute Ischemic Stroke Management
- Blood Coagulation and Thrombosis Mechanisms
- Epilepsy research and treatment
- Neonatal and fetal brain pathology
- Metabolism and Genetic Disorders
- Pharmacological Effects and Toxicity Studies
- Diet and metabolism studies
- Venous Thromboembolism Diagnosis and Management
- Tuberous Sclerosis Complex Research
- Cerebral Palsy and Movement Disorders
- Traumatic Brain Injury and Neurovascular Disturbances
- Neurological Disorders and Treatments
- Intracranial Aneurysms: Treatment and Complications
- Moyamoya disease diagnosis and treatment
- Cerebrovascular and Carotid Artery Diseases
- Neurological Complications and Syndromes
- Childhood Cancer Survivors' Quality of Life
- Polyomavirus and related diseases
- Genetics and Neurodevelopmental Disorders
- Vascular Malformations Diagnosis and Treatment
- Spinal Dysraphism and Malformations
- Digestive system and related health
- Lysosomal Storage Disorders Research
- Skin and Cellular Biology Research
- Hemoglobinopathies and Related Disorders
Bristol Royal Hospital for Children
2014-2024
National Hospital for Neurology and Neurosurgery
2021
Centre Hospitalier Universitaire de Reims
2021
University College London
2017-2021
University of Antwerp
2021
Université de Reims Champagne-Ardenne
2021
Centre de Recherche en Sciences et Technologies de l'Information et de la Communication
2021
University of Bristol
2008-2020
Versus Arthritis
2020
Great Ormond Street Hospital
2020
<h3>Background</h3> Stroke is a major cause of mortality in children. Conditions that mimic stroke also severe morbidity and require prompt diagnosis treatment. We have investigated the time to cohort children with stroke. <h3>Methods</h3> A population-based was prospectively identified south England. Case notes, electronic hospital admission databases radiology records were reviewed. Timing symptom onset, presentation hospital, first neuroimaging, diagnostic neuroimaging presenting clinical...
To determine the underlying etiologies in a contemporary cohort of infants with infantile spasms and to examine response treatment.Identification etiology treatment 377 enrolled clinical trial between 2007 2014 using systematic review history, examination, investigations. They were classified pediatric adaptation International Classification Diseases, Tenth Revision (ICD-10).A total 219 (58%) had proven etiology, whom 128 responded, 58 108 (54%) allocated hormonal treatment, 70 111 (63%)...
Many infancy-onset epilepsies have poor prognosis for seizure control and neurodevelopmental outcome. Ketogenic diets can improve seizures in children older than 2 years adults who are unresponsive to antiseizure medicines. We aimed establish the efficacy of a classic ketogenic diet at reducing frequency compared with further medicine infants drug-resistant epilepsy.
Arterial ischemic stroke (AIS) is an important cause of acquired brain injury in children. Few prospective population-based studies childhood AIS have been completed. We aimed to investigate the outcome 12 months after event a cohort.Children aged 29 days < 16 years with radiologically confirmed occurring over 1-year period residing southern England (population = 5.99 million children) were eligible for inclusion. Outcome was assessed during home visit using Pediatric Stroke Measure (PSOM)....
Cerebral venous sinus thrombosis (CVST) in children is associated with a high incidence of serious morbidity and mortality. The presenting features are variable. It can be diagnostically challenging the optimal treatment uncertain.To describe series CVST treated single paediatric neurology centre to discuss role local thrombolysis.Electronic databases were searched using diagnostic labels International Classification Diseases (ICD) codes identify aged 1 month under 17 years CVST. Their...
Aim To define better the phenotype and genotype of familial sporadic cases paroxysmal kinesigenic dyskinesia ( PKD ) caused by mutations in PRRT 2 gene presenting paediatric age group. Method We report detailed clinical molecular genetic features 11 patients (six females, five males) with childhood‐onset 2‐ mutation‐positive . Results Mean at disease onset was 8 years 7.5 months (range 5–11y), presentation characterized daily short episodes dystonia/dyskinesia. Most also had non‐kinesigenic...
Tuberous Sclerosis Complex (TSC) is a genetic disorder characterised by the development of benign tumours secondary to loss inhibitory regulation mTOR (mechanistic Target Rapamycin) intracellular growth pathway. Metformin inhibits We investigated whether metformin would reduce hamartomas associated with tuberous sclerosis complex.In this multicentre randomized, double-blind, placebo-controlled trial, patients clinical diagnosis sclerosis, aged over 10 years and at least one renal...
Background: Data from the early pandemic revealed that 0.62% of children hospitalized with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) had an arterial ischemic stroke (AIS). In a larger cohort June 2020 to December 2020, we sought determine whether our initial point estimate was stable as continued and understand radiographic laboratory data may clarify mechanisms pediatric AIS in setting SARS-CoV-2. Methods: We surveyed international sites expertise numbers SARS-CoV-2...
Abstract Congenital disorders of glycosylation (CDG) are a clinically and biochemically heterogeneous subgroup inherited metabolic disorders. Most CDG with abnormal N‐glycosylation can be detected by transferrin screening, however, MOGS‐CDG escapes this routine screening. Combined the clinical heterogeneity reported cases, diagnosing challenging. Here, we characterize ten cases including six previously unreported individuals, showing phenotype characterized dysmorphic features, global...
To identify research priorities regarding the effectiveness of interventions for children and young people (CYP) with childhood neurological conditions (CNCs). These include common such as epilepsies cerebral palsy, well many rare conditions.
<h3>Objective</h3> To explore the phenotypic spectrum of <i>RHOBTB2</i>-related disorders and specifically to determine whether patients fulfill criteria for alternating hemiplegia childhood (AHC), we report clinical features 11 affected individuals. <h3>Methods</h3> Individuals with were identified through a movement disorder clinic at specialist pediatric center, additional cases collaboration other centers internationally. Clinical data acquired retrospective case-note review....
Epilepsy is the most common significant long-term neurological condition of childhood. The prevalence in children UK approximately 4 per 1000 children. It affects 1 220 and young people with on average two epilepsy every primary school nine secondary school.1 National Institute for Health Care Excellence (NICE) defines as a 'condition which person prone to recurrent epileptic seizures' seizure 'transient occurrence signs or symptoms result change electrical activity (abnormally excessive...
<h3>Objective:</h3> Stroke is an important but under-recognised cause of childhood mortality. The authors aimed to describe the trends in mortality from stroke England and Wales between 1921 2000. <h3>Design:</h3> study searched Office for National Statistics database years 1921–2000 using appropriate, previously validated International Classification Diseases codes. Mortality rates were analysed by period death, gender, age at birth cohort subtype. <h3>Results:</h3> 6029 deaths found...
To evaluate the delay in research governance approval for a non-interventional, multicentre study United Kingdom.
Incidence of paediatric stroke has been estimated to range from 1.2 13 per 100,000 children under 18 years age. It is a significant cause long-term morbidity in with impacts on physical, cognitive, psychological, and social outcomes. However, little known about the experiences parents caring for child stroke. Such information needed inform development child- family-centred care.We conducted in-depth interviews Participants were purposively sampled three regional specialist services England,...