Diagnostic pathway and management of first seizures in infants with Sturge-Weber syndrome.

Aim: Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome, frequently associated with pharmaco-resistant, early-onset epilepsy. Optimal seizure control is paramount to maximize neurodevelopment.

Method: A single-centre case series of 49 infants explored early SWS care.

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.

Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome and phakomatosis pigmentovascularis with dermal melanocytosis. The pathognomonic finding of localized "tramlining" on plain skull radiography, representing medium-sized neurovascular calcification and associated with postnatal neurological deterioration, led us to study calcium metabolism in a cohort of 42 children. In this study, we find that 74% of patients had at least one abnormal measurement of calcium metabolism, the commonest being moderately low serum ionized calcium (41%) or high parathyroid hormone (17%).

North Thames multi-centre service evaluation: Ethical considerations during COVID-19.

Objectives: During the COVID-19 pandemic, healthcare resources including staff were diverted from paediatric services to support COVID-positive adult patients. Hospital visiting restrictions and reductions in face-to-face paediatric care were also enforced. We investigated the impact of service changes during the first wave of the pandemic on children and young people (CYP), to inform recommendations for maintaining their care during future pandemics.

Neurological presentations and cognitive outcome in Sturge-Weber syndrome.

Introduction: This study of children with Sturge-Weber syndrome (SWS) profiled neurological presentations; compared patients with (+) and without (-) port-wine stain (PWS); and determined risk factors for intellectual and language impairments.

Methods: A retrospective case note review was conducted at a national centre.

Results: This cohort (n = 140, male 72, median follow up 114 months) showed sex parity.

The prevalence and profile of autism in Sturge-Weber syndrome.

A systematic retrospective case note review was undertaken to investigate autism diagnostic factors in 124 individuals with Sturge-Weber syndrome (SWS). Social Responsiveness Scale questionnaires were then analysed to explore the severity and profile of autism characteristics in 70 participants. Thirty-two to forty percent of participants had a clinical diagnosis of autism and half of those without a diagnosis showed significant social communication difficulties.

Work of a paediatric bioethics centre during the COVID-19 pandemic first phase.

Objectives: Decisions with an ethical component have been controversial during the COVID-19 pandemic, whether leaked intensive care unit (ICU)-rationing documents, transfer of people to care-homes to 'protect the National Health Service' or the duty to treat patients despite inadequate personal protective equipment. To counter criticism of ethics per se, and to help those planning ethics support we describe the practical work of a children's hospital bioethics team in supporting children, families and clinicians during this unprecedented period.

Design/setting: Three phases of activity: (i) preparation: we composed several documents to support/guide hospital teams and, together with colleagues, provided them to regional inpatient, community and hospice settings.

Transient episodes of hemiparesis in Sturge Weber Syndrome - Causes, incidence and recovery.

Introduction: Sturge Weber Syndrome (SWS) arises from a sporadic condition secondary to a post zygotic mutation in the GNAQ gene, manifested in the majority of cases by capillary malformation of the skin. Children present with seizures, acquired hemiparesis, transient hemiparesis and intellectual disabilities. This project aimed to establish incidence of transient episodes, their recovery time if full recovery was achieved, and events associated with the transient episode.

Flunarizine for Headache Prophylaxis in Children With Sturge-Weber Syndrome.

Background: Children with Sturge-Weber syndrome can experience severe headache with or without transient hemiparesis. Flunarizine, a calcium antagonist, has been used for migraine. The experience with flunarizine for headache in a cohort of children at a national center for Sturge-Weber syndrome is reviewed, reporting its efficacy and adverse effect in this population.

Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome.

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by the combination of a facial naevus flammeus and pial angioma, often associated with learning difficulties and/or epilepsy. Here, we report on the neuropsychological characteristics of a cohort of 92 children with SWS seen at a national referral center between 2002 and 2015. Almost a quarter (24%) had a diagnosis of autism spectrum disorder (ASD), with 45% overall having evidence of social communication difficulties (SCD).

Symptoms of anxiety and depression in school-aged children with active epilepsy: A population-based study.

Methods: Children (5-15 years) with active epilepsy were screened using the parent-report (n=69) and self-report (n=48) versions of the Spence Children's Anxiety Scale (SCAS) and the self-report version of the Children's Depression Inventory (CDI) (n=48) in a population-based sample.

Results: A total of 32.2% of children (self-report) and 15.

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed in neurons and cardiomyocytes. As affected individuals may survive into adulthood, we use the term 'alternating hemiplegia'. The disorder is characterized by early-onset, recurrent, often alternating, hemiplegic episodes; seizures and non-paroxysmal neurological features also occur.

Features of developmental coordination disorder in active childhood epilepsy: a population-based study.

Aims: To provide data on parent-reported features of developmental coordination disorder (DCD) and describe neurobehavioural comorbidity in children with epilepsy and DCD.

Method: Eighty-five (74% of those eligible) children (44 males, 41 females; age range 5-15y) with active childhood epilepsy (an epileptic seizure in the last year and/or currently taking antiepileptic drugs) in a population-based cohort underwent comprehensive multidisciplinary assessment. The DCD Questionnaire (DCD-Q) was completed by parents (n=69) of children with an IQ>34, of whom 56 did not have cerebral palsy (CP), and were considered for a diagnosis of DCD.

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.

Background: Mutations in the gene encoding the alpha subunit of the voltage-gated sodium channel SCN1A are associated with several epilepsy syndromes. These range from severe phenotypes including Dravet syndrome to milder phenotypes such as genetic epilepsy with febrile seizures plus (GEFS+). To date the sequence variants identified have been heterozygous in nature as one would expect for a disorder that occurs de novo or is dominantly inherited.

Factors associated with quality of life in active childhood epilepsy: a population-based study.

Background: Improving health-related quality of life (HRQOL), rather than just reducing seizures, should be the principal goal in comprehensive management of childhood epilepsy. There is a lack of population-based data on predictors of HRQOL in childhood epilepsy.

Methods: The Children with Epilepsy in Sussex Schools (CHESS) study is a prospective, population-based study involving school-aged children (5-15 years) with active epilepsy (on one or more AED and/or had a seizure in the last year) in a defined geographical area in the UK.

Features of autism spectrum disorder (ASD) in childhood epilepsy: a population-based study.

In a defined geographical area in the south of the UK, 115 children with active epilepsy (i.e., children who had seizures in the last year and/or children who were taking antiepileptic drugs (AEDs)) were identified via a computerized database and liaison with local pediatricians.

Screening for mental health disorders in active childhood epilepsy: population-based data.

Background: Children with epilepsy are at increased risk for behavioral and psychiatric disorders and it has been recommended that all children with epilepsy be screened for such conditions. There is thus a need to identify appropriate screening measures in this population.

Methods: Children with active epilepsy (on AEDs and/or had a seizure in the last year) with an IQ>34 (n=69) were screened for behavioral/psychiatric disorders using the parent and teacher versions of the Strengths and Difficulties Questionnaire (SDQ) in a population-based sample.

Neurobehavioral comorbidities in children with active epilepsy: a population-based study.

Background: In addition to recurrent epileptic seizures, children with epilepsy can have coexisting cognitive and behavioral difficulties but the spectrum and prevalence of such difficulties are uncertain.

Methods: The Children with Epilepsy in Sussex Schools study is a prospective, community-based study involving school-aged children (5–15 years) with active epilepsy in a defined geographical area in the United Kingdom. Participants underwent comprehensive psychological assessment, including measures of cognition, behavior, and motor functioning.

Arterial spin labeling characterization of cerebral perfusion during normal maturation from late childhood into adulthood: normal 'reference range' values and their use in clinical studies.

The human brain changes structurally and functionally during adolescence, with associated alterations in cerebral perfusion. We performed dynamic arterial spin labeling (ASL) magnetic resonance imaging in healthy subjects between 8 and 32 years of age, to investigate changes in cerebral hemodynamics during normal development. In addition, an inversion recovery sequence allowed quantification of changes in longitudinal relaxation time (T₁) and equilibrium longitudinal magnetization (M₀).

Methylphenidate treatment of attention deficit hyperactivity disorder in young people with learning disability and difficult-to-treat epilepsy: evidence of clinical benefit.

Purpose: To establish the efficacy and safety of methylphenidate (MPH) treatment for attention deficit hyperactivity disorder (ADHD) in a group of children and young people with learning disability and severe epilepsy.

Methods: This retrospective study systematically reviewed the case notes of all patients treated with methylphenidate (MPH) for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) ADHD at a specialist epilepsy center between 1998 and 2005. Treatment efficacy was ascertained using clinical global impressions (CGI) scores, and safety was indexed by instances of >25% increase in monthly seizure count within 3 months of starting MPH.