Background: Consolidation of learning occurs during sleep but when it is disturbed there may be an adverse impact upon these functions. While research has focused upon how sleep affects cognition in adulthood, the effects of disrupted sleep are likely to impact more heavily on learning among children and adolescents. We aimed to investigate whether a […]
Developmental Coordination Disorder (DCD), general coordination and fine motor deficits are prevalent in children with Rolandic epilepsy
Goals Use the DCDQ’07 to calculate the prevalence of DCD cases in children with RE, their siblings and controls. Identify the key features in motor deficits from subscores in groups. See if motor deficits exist in non-cases.
Core Health Outcomes In Childhood Epilepsy (CHOICE): protocol for the selection of a core outcome set
Background: There is increasing recognition that establishing a core set of outcomes to be evaluated and reported in trials of interventions for particular conditions will improve the usefulness of health research. There is no established core outcome set for childhood epilepsy. The aim of this work is to select a core outcome set to be […]
Objective: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. Methods: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In […]
Goals Using the DCDQ’07 to detect DCD symptoms in children with RE, their siblings and controls Identify the key problems in motor abilities and subscores
Introduction We established a regional epilepsy genetics service: southeast England serving a population of 3.5 million.The service has two components: a specialist outpatient clinic a molecular diagnostic service. We evaluated: the effectiveness and utility of NGS investigation costs the patient/referrer experience
High prevalence of intellectual disability, autism, ADHD and diminished adaptive functioning in Doose syndrome (MAE)
Introduction and Purpose High prevalence of intellectual disability, autism, ADHD and diminished adaptive functioning in Doose syndrome (MAE)
When patients with juvenile myoclonic epilepsy (JME) present at clinic, the presence of impulsive behaviour and/or poor inhibitory control is often reported yet research findings are variable. The aim of this meta-analysis is to draw together existing research evidence to understand more about cognitive and behavioural impulsivity traits in this patient group.
Here you can access the research posters presented by our team at the International Epilepsy Congress 2017 in Barcelona.
Decreased functional connectivity within a language subnetwork in benign epilepsy with centrotemporal spikes
Objective: Benign epilepsy with centrotemporal spikes (BECTS, also known as Rolan- dic epilepsy) is a common epilepsy syndrome that is associated with literacy and lan- guage impairments. The neural mechanisms of the syndrome are not known. The primary objective of this study was to test the hypothesis that functional connectivity within the language network is […]