Outcomes of ventriculoperitoneal shunt insertion in the management of idiopathic intracranial hypertension in children

Purpose The ventriculoperitoneal (VP) shunt has become the procedure of choice for treatment of idiopathic intracranial hypertension (IIH). We aimed to assess the efficacy of frameless stereotactic placement of VP shunts for the management of medically resistant IIH in children and to assess the role of gender and obesity in the aetiology of the condition. Methods This is a retrospective analysis of the case notes of 10 patients treated surgically at the University Hospital of Wales in Cardiff, from May 2006 to September 2012. Results VP shunts were successful in relieving headache, papilloedema and stabilising vision. No sex predilection was identified, and increased BMI was a feature throughout the population, regardless of age. Conclusions Neuronavigated VP shunt insertion is an effective mode of treatment for medically resistant IIH in children. The aetiological picture in children does not seem to be dominated by obesity, as in adults. Literature on childhood IIH is sparse, and larger scale, comparative studies would be of benefit to treating clinicians

Core Health Outcomes In Childhood Epilepsy (CHOICE):Protocol for the selection of a core outcome set

This is the final version of the article. Available from BioMed Central via the DOI in this record.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. METHODS: First we will identify what outcomes should be measured; then we will decide how to measure those outcomes. We will engage relevant UK charities and health professional societies as partners, and convene advisory panels for young people with epilepsy and parents of children with epilepsy. We will identify candidate outcomes from a search for trials of interventions for childhood epilepsy, statutory guidance and consultation with our advisory panels. Families, charities and health, education and neuropsychology professionals will be invited to participate in a Delphi survey following recommended practices in the development of core outcome sets. Participants will be able to recommend additional outcome domains. Over three rounds of Delphi survey participants will rate the importance of candidate outcome domains and state the rationale for their decisions. Over the three rounds we will seek consensus across and between families and health professionals on the more important outcomes. A face-to-face meeting will be convened to ratify the core outcome set. We will then review and recommend ways to measure the shortlisted outcomes using clinical assessment and/or patient-reported outcome measures. DISCUSSION: Our methodology is a proportionate and pragmatic approach to expediently produce a core outcome set for evaluative research of interventions aiming to improve the health of children with epilepsy. A number of decisions have to be made when designing a study to develop a core outcome set including defining the scope, choosing which stakeholders to engage, most effective ways to elicit their views, especially children and a potential role for qualitative research.This study is part of Changing Agendas on Sleep, Treatment and Learning in Childhood Epilepsy (CASTLE), which is funded by the National Institute for Health Research (NIHR) Programme Grants for Applied Research RP-PG-0615-20007

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. Methods Analysis of a prospectively collected database of paediatric surgical patients was analysed and patients diagnosed with otogenic hydrocephalus from November 2010 to August 2018 were identified. Our data was compared with the published literature on this condition. Results Eleven children, 7 males and 4 females, were diagnosed with otogenic hydrocephalus over the 9-year period. Five (45.5%) required VP shunt insertion to manage their intracranial pressure and protect their vision. The remaining six patients (54.5%) were managed medically. Conclusions When children with mastoiditis and venous sinus thrombosis progress to having symptoms or signs of raised intracranial pressure, they should ideally be managed within a neuroscience centre. Of those children, almost half will need permanent cerebrospinal fluid diversion to protect their sight

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

This is the final version. Available from the publisher via the DOI in this record.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). METHODS: We followed guidance from the COMET (Core Outcome Measures in Effectiveness Trials) Initiative. First, we identified outcomes that had been measured in research through a systematic review. Second, young people with RE, parents, and professionals were invited to take part in a Delphi survey in which participants rated the importance of candidate outcomes. Last, a face-to-face meeting was convened to seek consensus on which outcomes were critical to include and to ratify the final COS. RESULTS: From 37 eligible papers in the review, we identified and included 48 candidate outcomes in the survey. We sent invitations to 165 people registered to take part in the survey; of these, 102 (62%) completed Round 1, and 80 (78%) completed Round 2 (three young people, 16 parents, 61 professionals). In Round 2 we included four additional outcomes suggested by participants in Round 1. The consensus meeting included two young people, four parents, and nine professionals who were eligible to vote and ratified the COS as 39 outcomes across 10 domains. SIGNIFICANCE: Our methodology was a proportionate and pragmatic approach toward producing a COS for evaluating research on interventions aiming to improve the health of children with RE.National Institute for Health Research (NIHR

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. We performed molecular cytogenetic testing by single nucleotide polymorphism array or microarray-based comparative genome hybridisation. Results 8.8 % (7/80) of the patients had at least one rare CNVs that was considered to be pathogenic or likely pathogenic. The CNVs involved known disease genes (EHMT1, MBD5 and SCN1A) and imbalances in genomic regions associated with neurodevelopmental disorders (16p11.2, 16p13.11 and 2q13). Prompted by the observation of two deletions disrupting SCN1A we undertook further testing of this gene in selected patients. This led to the identification of four pathogenic SCN1A mutations in our cohort. Conclusions We identified five rare de novo deletions and confirmed the clinical utility of array analysis in patients with ID/DD and childhood-onset epilepsy. This report adds to our clinical understanding of these rare genomic disorders and highlights SCN1A mutations as a cause of ID and epilepsy, which can easily be overlooked in adults