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.