Epilepsy is common in early childhood. In this age group it is associated with high rates of therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number of genes, with wide ranging functions, are implicated in its aetiology, especially in those with therapy-resistant seizures. Identifying the more common single-gene epilepsies will aid in targeting resources, the prioritization of diagnostic testing and development of precision therapy. Previous studies of genetic testing in epilepsy have not been prospective and population-based. Therefore, the population-incidence of common genetic epilepsies remains unknown. The objective of this study was to describe the incidence and phenotypic spectrum of the most common single-gene epilepsies in young children, and to calculate what proportion are amenable to precision therapy. This was a prospective national epidemiological cohort study. All children presenting with epilepsy before 36 months of age were eligible. Children presenting with recurrent prolonged (>10 min) febrile seizures; febrile or afebrile status epilepticus (>30 min); or with clusters of two or more febrile or afebrile seizures within a 24-h period were also eligible. Participants were recruited from all 20 regional paediatric departments and four tertiary children’s hospitals in Scotland over a 3-year period. DNA samples were tested on a custom-designed 104-gene epilepsy panel. Detailed clinical information was systematically gathered at initial presentation and during follow-up. Clinical and genetic data were reviewed by a multidisciplinary team of clinicians and genetic scientists. The pathogenic significance of the genetic variants was assessed in accordance with the guidelines of UK Association of Clinical Genetic Science (ACGS). Of the 343 patients who met inclusion criteria, 333 completed genetic testing, and 80/333 (24%) had a diagnostic genetic finding. The overall estimated annual incidence of single-gene epilepsies in this well-defined population was 1 per 2120 live births (47.2/100 000; 95% confidence interval 36.9–57.5). PRRT2 was the most common single-gene epilepsy with an incidence of 1 per 9970 live births (10.0/100 000; 95% confidence interval 5.26–14.8) followed by SCN1A: 1 per 12 200 (8.26/100 000; 95% confidence interval 3.93–12.6); KCNQ2: 1 per 17 000 (5.89/100 000; 95% confidence interval 2.24–9.56) and SLC2A1: 1 per 24 300 (4.13/100 000; 95% confidence interval 1.07–7.19). Presentation before the age of 6 months, and presentation with afebrile focal seizures were significantly associated with genetic diagnosis. Single-gene disorders accounted for a quarter of the seizure disorders in this cohort. Genetic testing is recommended to identify children who may benefit from precision treatment and should be mainstream practice in early childhood onset epilepsy.

ObjectiveTo evaluate the parent and staff experience of a secure video messaging service as a component of neonatal care.DesignMulticentre evaluation incorporating quantitative and qualitative items.SettingLevel II and level III UK neonatal units.PopulationFamilies of neonatal inpatients and neonatal staff.InterventionUse of a secure, cloud-based asynchronous video messaging service to send short messages from neonatal staff to families. Evaluation undertaken July–November 2019.Main outcome measuresParental experience, including anxiety, involvement in care, relationships between parents and staff, and breastmilk expression.ResultsIn pre-implementation surveys (n=41), families reported high levels of stress and anxiety and were receptive to use of the service. In post-implementation surveys (n=42), 88% perceived a benefit of the service on their neonatal experience. Families rated a positive impact of the service on anxiety, sleep, family involvement and relationships with staff. Qualitative responses indicated enhanced emotional closeness, increased involvement in care and a positive effect on breastmilk expression. Seventy-seven post-implementation staff surveys were also collected. Staff rated the service as easy to use, with minimal impact on workload. Seventy-one percent (n=55) felt the service had a positive impact on relationships with families. Staff identified the need to manage parental expectations in relation to the number of videos that could be sent.ConclusionsAsynchronous video messaging improves parental experience, emotional closeness to their baby and builds supportive relationships between families and staff. Asynchronous video supports models of family integrated care and can mitigate family separation, which could be particularly relevant during the COVID-19 pandemic.

Lumbar puncture (LP) is a useful diagnostic tool in a wide spectrum of paediatric clinical situations. A common indication is to rule out a serious intracranial infection in a febrile child. Success rate can be optimised by proper positioning, appropriate technique and enhanced operator's skill in performing the procedure. The purpose of this review is to explore the indications and contraindications for performing paediatric LP, to describe the anatomical and physiological knowledge required to maximise success rates and to describe complications and their management. We will also provide advice on requesting various cerebrospinal fluid studies, interpretation of results and clinical situations in which LP may be indicated.

Objective:To report the prevalence of anti-neuronal antibodies in a prospectively whole nation cohort of children presenting with seizures before their third birthday.Methods:This was a prospective population-based national cohort study involving all children presenting with new onset epilepsy or complex febrile seizures before their 3rd birthday over a three-year period. Patients with previously identified structural, metabolic or infectious cause for seizures were excluded. Serum samples were obtained at first presentation and tested for seven neuronal antibodies using live cell-based assays. Clinical data were collected using structured proformas at recruitment, and 24 months after presentation. In addition, patients with seizures and clinically suspected autoimmune encephalitis were independently identified by reviewing the case records of all children < 3 years in Scotland who had undergone electroencephalography (EEG).Results:298 patients were identified, recruited and underwent autoantibody testing. Antibody positivity was identified in 18/298 (6.0%). The antibodies identified were: GABABR (n = 8, 2.7%), CASPR2 (n = 4, 1.3%), GlyR (n = 3, 1.0%), LGI1 (n = 2, 0.7%), NMDAR (n = 1, 0.3%), and GABAAR (n = 1, 0.3%). None of these patients had a clinical picture of autoimmune encephalitis. Seizure classification and clinical phenotype did not correlate with antibody positivity.Conclusions:Autoimmune encephalitis is very rare in early childhood. However serum neuronal antibodies are identified in 6.4% of children presenting with seizures < 3 years. Antibody testing should not be a routine clinical test in early childhood-onset epilepsy as in the absence of other features of autoimmune encephalitis antibody-positivity is of doubtful clinical significance. Antibody testing should be reserved for patients with additional features of encephalitis.

recommendations were: Compliance with ISBAR, Location, Time taken, Start time, Staff attendance, Discussion of roles and responsibilities and Record keeping. The results prompted a re-audit. NCHD's were then given education sessions regarding the recommendation's. A summary of the recommendations was also placed in the clinical handover room. A re-audit was done 3 months later before change over. 2. patients were also randomly selected and were surveyed confidentially about Diagnosis, Investigations, Treatment plans and satisfactory communication to see if the team was complying with recommendation two in the NCG. Three months later, 30 patients were surveyed again.Results It was found that:Compliance% of recommendations set out by NCEC, HSE Pre-intervention Post intervention