A recent surge of fulminant and early onset subacute sclerosing panencephalitis (SSPE) in the United Kingdom: An emergence in a time of measles.

Background: Subacute Sclerosing Panencephalitis (SSPE) is a fatal progressive neurological disorder following measles infection.

Methods: Cases were collated from Paediatric Neurology centres in the UK over 24 months from 2017 to 2019 and represent all cases referred to the National Viral Reference Department (VRD). Diagnosis was established with detection of a raised measles index, demonstrating intrathecal measles antibody production.

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

With advances in genetic testing and improved access to such advances, whole exome sequencing is becoming a first-line investigation in clinical work-up of children with developmental delay/intellectual disability (ID). As a result, the need to understand the importance of genetic variants and its effect on the clinical phenotype is increasing. Here, we report on the largest cohort of patients with HNRNPU variants.

Surgical management of raised intracranial pressure secondary to otogenic infection and venous sinus thrombosis.

Purpose: This study reviews paediatric patients with raised intracranial pressure as a result of venous sinus thrombosis secondary to otogenic mastoiditis, requiring admission to the paediatric neuroscience centre at the University Hospital Wales, Cardiff. The consensus regarding the management of otogenic hydrocephalus in the published literature is inconsistent, with a trend towards conservative over surgical management. We reviewed our management of this condition over a 9-year period especially with regard to ventriculo-peritoneal (VP) shunting.

Core Health Outcomes in Childhood Epilepsy (CHOICE): Development of a core outcome set using systematic review methods and a Delphi survey consensus.

Objective: Establishing a core set of outcomes to be evaluated and reported in intervention trials aims to improve the usefulness of health research. There is no established core outcome set (COS) for childhood epilepsies. The aim of this study was to select a COS to be used in evaluative research of interventions for children with rolandic epilepsy (RE).

Sleep and epilepsy: unfortunate bedfellows.

The relationship between sleep and seizure disorders is a particularly vicious cycle. Nocturnal seizures can interrupt sleep while a number of factors, including antiepileptics and sleep disorders that cause sleep fragmentation, can worsen seizures. Understanding and managing seizures and related sleep disturbance is therefore an important and treatable intervention target that could potentially improve children's sleep, but also their learning, mood, behaviour, seizures and parental quality of life.

Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population.

Objective: Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation.

Design: Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service.

Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya.

Objective: To describe characteristics and course of a large UK cohort of children with moyamoya from multiple centers and examine prognostic predictors.

Methods: Retrospective review of case notes/radiology, with use of logistic regression to explore predictors of outcome.

Results: Eighty-eight children (median presentation age 5.

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 used in evaluative research of interventions for children with rolandic epilepsy, as an exemplar of common childhood epilepsy syndromes.

Benign childhood epilepsy with centrotemporal spikes (BECTS) and developmental co-ordination disorder.

Background: Benign epilepsy with centro-temporal spikes (BECTS) is a common childhood epilepsy syndrome also known as Rolandic Epilepsy (RE). Neurocognitive phenotypes have been described with greater focus on attention, reading and language domains but there have been far fewer studies focusing on motor functioning. This study included measures of motor, language and cognition in order to investigate the range, degree and pattern of difficulties associated with BECTS in a case series of children, but with a particular emphasis on motor skills.

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.

Background: Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ID and epilepsy.

Methods: We evaluated the range of rare CNVs found in 80 Welsh patients with ID or developmental delay (DD), and childhood-onset epilepsy.

Unusual neurological presentation of Fusobacterium necrophorum disease.

A 2-year-old girl presented to hospital, with reduced consciousness and fever. She had a 4-week history of fever treated with two courses of amoxicillin for tonsillitis diagnosed in primary care. Neuroimaging revealed multiple cerebral abscesses and subdural empyema.

Ipsilateral cortical motor desynchronisation is reduced in Benign Epilepsy with Centro-Temporal Spikes.

Objective: Magnetoencephalography (MEG) and a simple motor paradigm were used to study induced sensorimotor responses and their relationship to motor skills in children diagnosed with Benign Epilepsy with Centro-Temporal Spikes (BECTS).

Methods: Twenty-one children with BECTS and 15 age-matched controls completed a finger abduction task in MEG; movement-related oscillatory responses were derived and contrasted between groups. A subset of children also completed psycho-behavioural assessments.

Resting-state oscillatory dynamics in sensorimotor cortex in benign epilepsy with centro-temporal spikes and typical brain development.

Benign Epilepsy with Centro-Temporal Spikes (BECTS) is a common childhood epilepsy associated with deficits in several neurocognitive domains. Neurophysiological studies in BECTS often focus on centro-temporal spikes, but these correlate poorly with morphology and cognitive impairments. To better understand the neural profile of BECTS, we studied background brain oscillations, thought to be integrally involved in neural network communication, in sensorimotor areas.

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.

Aim: Benign hereditary chorea is a dominantly inherited, childhood-onset hyperkinetic movement disorder characterized by non-progressive chorea and variable degrees of thyroid and respiratory involvement. Loss-of-function mutations in NKX2.1, a gene vital to the normal development and function of the brain, lungs, and thyroid, have been identified in a number of individuals.

Neuropsychiatric disease in patients with periventricular heterotopia.

Periventricular heterotopia (PH) is a disorder of neuronal migration. Previous clinical reports of PH have largely focused on the seizure-related and neurodevelopmental consequences of this condition. The authors report four unrelated individuals with PH, with particular emphasis on their behavioral and psychiatric morbidity.

Neurosurgical input at pre-natal counselling for parents of babies with Spina bifida.

Prenatal counselling can be helpful to parents in making a decision with regard to continuation of the pregnancy or to help prepare for the birth and the future life of a child with Spina bifida. We aimed to assess the effectiveness of our specialist neuro counselling sessions and to highlight areas that could be improved upon. This was in the form of a questionnaire given to parents, who had been through the counselling and continued with their pregnancy.

Neural tube defects in Wales: changing demographics from 1998 to 2009.

Objective: To establish if there is evidence for the perceived increase in the number of live births with a Neural tube defect (NTD) in South Wales from 1998 to 2009.

Methods: Data was obtained from the Congenital Abnormalities Register Information Services (CARIS), which recorded 305 cases of pregnancies involving neural tube defects. Descriptive analysis was carried out for each year in this period to obtain the number of live births, the proportion of live births compared to NTD pregnancies, plus the number and the percentage terminated each year.

Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice.

Purpose: To investigate the association between genotype (methyl-CpG-binding protein 2 (MECP2 gene mutation)) and epileptic seizure phenotype in Rett syndrome.

Methods: We used the British Isles Rett syndrome survey to identify 137 subjects with one of the nine most frequent MECP2 gene mutations and invited their parents or carers to participate in a postal questionnaire and telephone interview. The questionnaire recorded information about epileptic seizure types, non-epileptic vacant spells and treatments.