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Clinical practice guidelines (CPGs) are statements that provide evidence-based recommendations aimed at optimizing patient care. However, many other documents are often published as "guidelines" when they are not; these documents, although also important in clinical practice, are usually not systematically produced following rigorous processes linking the evidence to the recommendations. Specifically, the International League Against Epilepsy (ILAE) guideline development toolkit aims to ensure that high-quality CPGs are developed to fill knowledge gaps and optimize the management of epilepsy. In addition to adhering to key methodological processes, guideline developers need to consider that effective CPGs should lead to improvements in clinical processes of care and health care outcomes. This requires monitoring the effectiveness of epilepsy-related CPGs and interventions to remove the barriers to epilepsy CPG implementation. This article provides an overview of what distinguishes quality CPGs from other documents and discusses their benefits and limitations. We summarize the recently revised ILAE CPG development process and elaborate on the barriers and facilitators to guideline dissemination, implementation, and adaptation.

Denne oppgaven er en analyse av de norske idrettsutøverne sin deltagelse i debatten rundt boikotten av OL i Moskva i 1980. Etter Sovjetunionens invasjonen av Afghanistan i 1979 ble forskjellige sanksjoner ovenfor landet foreslått, og boikotten av olympiaden var en av de. Norsk idrett hadde siden andre verdenskrig vært preget av autonomi, noe som gjorde at idretten selv som skulle ta beslutningen om deltagelse eller ikke. Etter diskusjoner i både Norges idrettsforbund og Norges olympiske komite ble beslutningen tatt på Idrettstinget der idretts-Norge stemte for boikott. Tre ulike standpunkter vil bli brukt til å analysere synspunktene til idrettslederne og idrettsutøverne i denne oppgaven. Standpunktene er det idrettslige, moralske og realistiske. Hovedfokuset vil ligge på de aktive utøverne og deres argumenter og plass i debatten som utspilte seg det første halvåret av 1980, der avismaterialet fra perioden vil bli brukt hyppig.

Training a skilled healthcare workforce is an essential part in reaching the United Nations Sustainable Development Goal to end preventable deaths in children and neonates. The greatest burden of mortality lies in low and lower-middle income countries (LLMIC). Short term, in-service courses have been implemented in many LLMIC to improve the quality of care delivered, but the evaluation methods of these courses are inconsistent.Studies describing evaluations of course and outcome measures were included if the course lasted seven days or less with postgraduate participants, included paediatric or neonatal acute or emergency training and was based in a LLMIC. This narrative review provides a detailed description of evaluation methods of course content, delivery and outcome measures based on 'Context, Input, Process and Product' (CIPP) and Kirkpatrick models.5265 titles were screened with 93 articles included after full-text review and quality assessment. Evaluation methods are described: context, input, process, participant satisfaction, change in learning, behaviour, health system infrastructure and patient outcomes.Outcomes, including mortality and morbidity, are rightly considered the fundamental aim of acute-care courses in LLMIC. Course evaluation can be difficult, especially with low resources, but this review outlines what can be done to guide future course organisers in providing well-conducted courses with consistent outcome measures for maximum sustainable impact.

BackgroundIntrathecal baclofen (ITB) is a useful treatment for hypertonia where non-invasive treatments have been ineffective or poorly tolerated. There is an absence of national guidance on selection criteria and a lack of literature regarding patient characteristics and treatment details for children and young people (CYP) receiving ITB therapy in the UK and Ireland. We aimed to gather patient and treatment characteristics for CYP receiving ITB in the UK and Ireland.MethodsAn electronic survey was sent to all paediatric ITB centres in the UK and Ireland. Anonymised data were returned between December 2019 and April 2020. CYP >16 years and those awaiting ITB pump removal were excluded from the dataset.Results176 CYP were identified as receiving ITB therapy across the UK and Ireland. The majority of CYP with ITB pumps were non-ambulant (93%) with a diagnosis of cerebral palsy (79%). Median age of ITB insertion was 9 years; median current age was 14 years. 79% of CYP had significant spasticity, 55% had significant dystonia. The most commonly used ITB dosing modes were continuous (73%) and flexible (23%).ConclusionsITB pumps were most frequently used for non-ambulant CYP with cerebral palsy and existence of spasticity and/or dystonia in the UK and Ireland. Most CYP were receiving a continuous dose of ITB. There is significant variation in the number of paediatric ITB pumps across UK and Ireland. There is a need for development of nationally accepted paediatric referral criteria and clinical standards for ITB use.

Following media attention on children with refractory epilepsies reportedly deriving benefit from cannabis-based medicinal products (CBMPs), the UK government changed the law in 2018 so that CBMPs could be legally prescribed. Subsequently, a pure cannabidiol (CBD) product has been licensed for two epilepsy syndromes. However, despite pressure from campaign groups and allied politicians, almost no children have received unlicensed CBMPs under the UK NHS. This review explores the science behind CBMPs in paediatric epilepsies and highlights the areas that warrant further research. It identifies a lack of level I evidence for efficacy and safety as, currently, the major obstacle to prescribing. Unlicensed medicines are often used in paediatrics but almost all are used 'off-label', with supporting evidence of efficacy and safety derived either from other age-groups or from disease conditions. CBMPs, except for pure CBD, are unique in that they are currently both unlicensed and fall outside the 'off-label' category. The review acknowledges the treatment gap in refractory epilepsies and the potential use of CBMPs. However, it argues against exceptionally circumventing the usual standard of evidence required by regulatory prescribing authorities and warns against allowing vulnerable children to become the 'trojan horse' for deregulation of the commercial cannabis market.

The site at Queens Quay, Clydebank, features maritime structures built (most recently) in 1954, 62 years ago. The land site is currently being developed for commercial and residential purposes and the maritime structures are being appraised to meet a further 60-year design life. The structures comprise a suspended concrete deck supported on driven concrete piles, which forms the basin deck structure. Within the concrete structure, a sheet pile wall retains soil from approximately +1·5 m chart datum (CD) to a historical dredged depth of around −8·0 m CD. The unique arrangement of the structure and the scant records have demanded challenging investigative engineering work to appraise the structure and determine whether remedial work is required. This paper describes the activities that were carried out to appraise the structures: desktop study, diver inspections, archive researching, preliminary structural assessments, finite-element analyses and design concept solutions.

Purpose To validate a patient-reported-experience-measure, PREM, of the NHS paediatric epilepsy service. Methods Section 1 of the PREM recorded demographic and clinical characteristics, and Section 2 collected information about the users’ experience with the service. Section 2 included eighteen statements around three constructs: communication and provision of information to service users, interpersonal skills of staff, and clinic visits and accessibility to the services. Face validity, construct validity, internal reliability, and internal consistency were used to examine the robustness of these statements. The PREM was completed by parents/carers and also children/young people. Results PREMs were received from 145 of the 192 audit units; 2335 completed forms were returned; the attitude statements were completed by 750 children/young people and 1550 parents/carers. Face validity of the PREM was good. Construct validity was indecisive; confirmatory factor analysis of the hypothesised construct was weak. Exploratory factor analysis identified a four factor solution for the parent/carers dataset and a five factor solution for the children/young people’s dataset. Internal reliability was good for the parent/carers dataset but less good for the children/young people. Internal consistency was moderately good for both datasets. Conclusions These findings indicate that the PREM is likely to be a valid tool with the potential to elicit a wide variety of reliable views from parents/carers of children with epilepsy. The construct validity for the PREM should be reassessed with confirmatory factor analysis in a new dataset. More work needs to be undertaken with children/young people to design statements that capture their specific needs.

Epilepsies of early childhood are frequently resistant to therapy and often associated with cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene-based therapies, may prevent seizures and comorbidities. Epidemiological data utilizing modern diagnostic techniques including whole genome sequencing and neuroimaging can inform diagnostic strategies and therapeutic trials. We present a 3-year, multicentre prospective cohort study, involving all children under 3 years of age in Scotland presenting with epilepsies. We used two independent sources for case identification: clinical reporting and EEG record review. Capture-recapture methodology was then used to improve the accuracy of incidence estimates. Socio-demographic and clinical details were obtained at presentation, and 24 months later. Children were extensively investigated for aetiology. Whole genome sequencing was offered for all patients with drug-resistant epilepsy for whom no aetiology could yet be identified. Multivariate logistic regression modelling was used to determine associations between clinical features, aetiology, and outcome. Three hundred and ninety children were recruited over 3 years. The adjusted incidence of epilepsies presenting in the first 3 years of life was 239 per 100 000 live births [95% confidence interval (CI) 216–263]. There was a socio-economic gradient to incidence, with a significantly higher incidence in the most deprived quintile (301 per 100 000 live births, 95% CI 251–357) compared with the least deprived quintile (182 per 100 000 live births, 95% CI 139–233), χ2 odds ratio = 1.7 (95% CI 1.3–2.2). The relationship between deprivation and incidence was only observed in the group without identified aetiology, suggesting that populations living in higher deprivation areas have greater multifactorial risk for epilepsy. Aetiology was determined in 54% of children, and epilepsy syndrome was classified in 54%. Thirty-one per cent had an identified genetic cause for their epilepsy. We present novel data on the aetiological spectrum of the most commonly presenting epilepsies of early childhood. Twenty-four months after presentation, 36% of children had drug-resistant epilepsy (DRE), and 49% had global developmental delay (GDD). Identification of an aetiology was the strongest determinant of both DRE and GDD. Aetiology was determined in 82% of those with DRE, and 75% of those with GDD. In young children with epilepsy, genetic testing should be prioritized as it has the highest yield of any investigation and is most likely to inform precision therapy and prognosis. Epilepsies in early childhood are 30% more common than previously reported. Epilepsies of undetermined aetiology present more frequently in deprived communities. This likely reflects increased multifactorial risk within these populations., In a prospective study involving all children presenting with epilepsy aged under 3 years in Scotland, Symonds et al. show that epilepsies of undetermined aetiology present more frequently in socially disadvantaged groups. Aetiology is the strongest predictor of outcome, and genetic testing should be prioritized.

ObjectiveTo report the prevalence of anti-neuronal antibodies in a prospective whole-nation cohort of children presenting with seizures before their third birthday.MethodsThis was a prospective population-based national cohort study involving all children presenting with new-onset epilepsy or complex febrile seizures before their third birthday over a 3-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 7 neuronal antibodies using live cell-based assays. Clinical data were collected with structured proformas at recruitment and 24 months after presentation. In addition, patients with seizures and clinically suspected autoimmune encephalitis were independently identified by a review of the case records of all children ResultsTwo hundred ninety-eight patients were identified and recruited and underwent autoantibody testing. Antibody positivity was identified in 18 of 298 (6.0%). The antibodies identified were GABA receptor B (n = 8, 2.7%), contactin-associated protein 2 (n = 4, 1.3%), glycine receptor (n = 3, 1.0%), leucine-rich glioma inactivated 1 (n = 2, 0.7%), NMDA receptor (n = 1, 0.3%), and GABA receptor A (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.ConclusionsAutoimmune encephalitis is very rare in early childhood. However serum neuronal antibodies are identified in 6.4% of children presenting with seizures at

See Scheffer (doi:10.1093/brain/awz208) for a scientific commentary on this article. In a prospective population-based cohort study, Symonds et al. perform high-throughput genetic testing in children presenting with seizures before 3 years of age, and provide incidence estimates for the most common single-gene epilepsies. One quarter of cases are found to have a genetic cause, and 80% of the genetic diagnoses are found to have potential treatment implications., 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.

The UN Sustainable Development Goals include reduction in premature mortality from non-communicable disease and training of the healthcare workforce. Peer-supported workshop-based training is a proven effective training tool. The PET (Paediatric Epilepsy Training – BPNA/ILAE) programmes have recently expanded across five continents aiming to educate clinical professionals in the recognition, investigation and management of childhood epilepsy. A one-day standardised curriculum promotes evidence-based, safe practice which is delivered by a trained faculty to a target audience, primarily paediatricians and specialist nurses. A pragmatic framework was used to measure the effectiveness of these courses. Data were recorded on attendance, reaction to the course delivery, knowledge gain and changes in practice six months after the course. 6781 clinicians attended a PET Level 1 course over the last 15 years. 29% then 59% of participants scored the course as ‘excellent’ before and after its 2015 revision. Level of seniority and experience did not affect participants’ positive reaction (R2=0.05). Knowledge scores pre and post course increased from 76% to 90%, with incorrect answers identifying areas of clarification subsequently implemented in course material revision. Self-reported changes in practice six months following the course by the 323 participants who responded from India, Kenya, Myanmar, New Zealand, South Africa, Sudan and the UK included 66% reporting significant or moderate changes to their personal practice in epilepsy care. In 2017, specific reported improvements included improved history-taking (82%), ability to distinguish epileptic and non-epileptic events (85%), no longer prescribing anti-epileptic drugs for febrile seizures (42%) and improved prolonged seizure management (54%). A clear trend to greater reported improvements from low and middle-income country settings was seen. In Sudan, 26% had developed a dedicated epilepsy clinic since the course. This international survey included medication and diagnostic resource availability. Intravenous lorazepam was available to only 52% across all sites, emphasising the need for region-specific guidelines of prolonged seizures. Only 51% of respondents from India had access to video EEG and 15% to an epilepsy specialist nurse. These pilot data provide evidence for the effectiveness of short-course epilepsy education for clinicians to improve the quality of care for children with epilepsy globally.

To provide quality care for children with epilepsy there is a continuing need to synthesize clinical research into forms that reflect best clinical practice. The design of evidence-based guidelines allows the gathering of this information together. This review discusses the components needed to analyze published data and produce recommendations for clinical management. Guideline implementation should be seen as an essential component that is integrated into guideline development. Robust clinical practice guidelines can also form the basis of defining quality standards that in turn should allow the development and measurement of clinical outcomes that lead to direct improvements in patient care.

Aim To measure the adherence to antiepileptic drugs (AED) in a population cohort of children with epilepsy and to study the relationship between adherence and a series of clinical variables. Method A population-based study of children (90%) across a year of treatment. Twenty-five percent of children had an Adherence Index of less than 50%. Adherence declined with increasing age. There was no significant correlation between adherence and other clinical characteristics studied (sex, duration of epilepsy, other comorbid health problems, other regular medications, and seizure frequency). Interpretation Our data shows adherence to AED treatment is poor in children with epilepsy.

BACKGROUND: Infantile spasms constitute a severe form of epileptic encephalopathy. In the International Collaborative Infantile Spasms Study (ICISS), we showed that combining vigabatrin with hormonal therapy was more effective than hormonal therapy alone at stopping spasms between days 14 and 42 of treatment. In this planned follow-up, we aimed to assess whether combination therapy was associated with improved developmental and epilepsy outcomes at 18 months of age.METHODS: In ICISS, a multicentre, open-label, randomised controlled trial, infants were enrolled from 102 hospitals (three in Australia, 11 in Germany, two in New Zealand, three in Switzerland, and 83 in the UK). Eligible infants had a clinical diagnosis of infantile spasms and a hypsarrhythmic (or similar) electroencephalogram (EEG) no more than 7 days before enrolment. Participants were randomly assigned (1:1) by a secure website to receive hormonal therapy with vigabatrin or hormonal therapy alone. If parents consented, there was an additional randomisation (1:1) of type of hormonal therapy used (prednisolone or tetracosactide depot). Block randomisation was stratified for hormonal treatment and risk of developmental impairment. Parents and clinicians were not masked to therapy, but investigators assessing epilepsy and developmental outcomes at 18 months were masked to treatment allocation. Minimum doses were oral prednisolone 10 mg four times a day or intramuscular tetracosactide depot 0·5 mg (40 IU) on alternate days with or without oral vigabatrin 100 mg/kg per day. The primary outcome at 18 months was development as assessed by the Vineland Adaptive Behaviour Scales (VABS) composite score. Secondary outcomes were the presence or absence of epileptic seizures or infantile spasms in the previous 28 days, as recorded by parents and carers, and the use of any anti-epileptic treatment (including ketogenic diet) in the previous 28 days. Analysis was by intention to treat. The trial is registered with the ISRCTN registry, number 54363174, and EudraCT, number 2006-000788-27.FINDINGS: Between March 7, 2007, and May 22, 2014, 766 infants were screened and, of those, 377 were randomly assigned to hormonal therapy with vigabatrin (n=186) or hormonal therapy alone (n=191). 362 infants were assessed for developmental and epilepsy outcomes at 18 months, 181 in each treatment group. Mean VABS scores did not differ significantly between the combination therapy group and the hormonal therapy alone group (73·9 [SE 1·3] vs 72·7 [1·4], difference -1·2 [95% CI -4·9 to 2·6], p=0·55). Presence of epilepsy at the assessment at age 18 months was similar in both treatment groups (54 [30·0%] of 180 infants who received combination therapy vs 52 [29·2%] of 178 who received hormonal therapy alone; difference 0·8% [95% CI -8·8 to 10·4], p=0·90). Presence of spasms was also similar in both treatment groups (27 [15·0%] of 180 infants on combination therapy vs 28 [15·7%] of 178 on hormonal therapy alone; difference 0·7% [95% CI -6·9 to 8·3], p=0·85). At the 18-month assessment, 158 (44·1%) of 358 infants were on some form of anti-epileptic treatment. Initial control of spasms between days 14 and 42 of treatment was associated with higher mean VABS scores at 18 months (79·1 [SE 1·2] vs 63·2 [1·1], difference 15·9 [95% CI 12·4 to 19·5], pINTERPRETATION: Combination therapy did not result in improved developmental or epilepsy outcomes at 18 months. However, early clinical response to treatment was associated with improved developmental and epilepsy outcomes at 18 months. Longer lead-time to treatment was associated with poorer outcomes. Rapid diagnosis and effective treatment of infantile spasms could therefore improve outcomes.FUNDING: The Castang Foundation, Bath Unit for Research in Paediatrics, National Institute of Health Research, the Royal United Hospitals Bath NHS Foundation Trust, BRONNER-BENDER Stiftung/Gernsbach, University Children's Hospital Zurich.

Purpose To survey patient and carer experience for children and young people with epilepsy across the United Kingdom. Methods We used a Patient Reported Experience Measure methodology to explore perceived satisfaction with their epilepsy service. A survey collected anonymised proxy data on demography and illness severity, and perceptions of interaction with clinicians, ease of access to the service and the quality and quantity of epilepsy information provided. The questionnaire was completed by the child’s or young person’s carer or by the young person. Results Survey questionnaires were distributed across all of the 192 paediatric units providing epilepsy care for children in the UK. 145 units (75%) submitted data and there were 2335 responses. 90% of young people and 86% of carers were satisfied with the care they had received. Using multi-level logistic regression modelling, those factors most strongly affecting satisfaction were determined. While many proxies of illness severity adversely affected satisfaction, comorbidity did not. A dedicated clinic setting, perceived adequate information and guidance on restrictions on their child, if any, all improved satisfaction. However, the significantly strongest factor influencing satisfaction was “ease of access” to the service. Conclusions These data demonstrate the feasibility of collecting large population sizes to allow a better understanding of the needs of children and young people accessing an epilepsy service. They allow the identification of factors most closely linked to patient satisfaction and provide potentially valuable information on how to improve the quality of care of children and young people with epilepsy.

Clinical practice guidelines (CPGs) contain evidence-based recommendations to guide clinical care, policy development, and quality of care improvement. A recent systematic review of epilepsy guidelines identified considerable variability in the quality of available guidelines. Although excellent frameworks for CPG development exist, processes are not followed uniformly internationally, and resources to develop CPGs may be limited in certain settings. An International League Against Epilepsy (ILAE) working group was charged with proposing methodology to guide the development of future epilepsy-specific CPGs. A comprehensive literature search (1985-2014) identified articles related to CPG development and handbooks. Guideline handbooks were included if they were publicly available, and if their methodology had been used to develop CPGs. The working group's expertise also informed the creation of methodologies and processes to develop future CPGs for the ILAE. Five handbooks from North America (American Academy of Neurology), Europe (Scottish Intercollegiate Guidelines Network & National Institute for Health and Care Excellence), Australia (National Health and Medical Research Council), World Health Organization (WHO), and additional references were identified to produce evidence-based, consensus-driven methodology for development of epilepsy-specific CPGs. Key components of CPG development include the following: identifying the topic and defining the scope; establishing a working group; identifying and evaluating the evidence; formulating recommendations and determining strength of recommendations; obtaining peer reviews; dissemination, implementation, and auditing; and updating and retiring the CPG. A practical handbook and toolkit was developed. The resulting CPG development toolkit should facilitate the development of high-quality ILAE CPGs to improve the care of persons with epilepsy.

There has been considerable evolution in epilepsy healthcare for children over the last decade in the United Kingdom. There has been no single explanation for this. The development of national clinical guidelines, locally delivered but nationally designed educational programmes, nation-wide clinical audit, clinical networks and development of designated services have all had complimentary roles in enabling the implementation of national recommendations for the development of epilepsy care. These models may be applicable to other healthcare settings outside the UK.

Multifocal motor neuropathy is an acquired pure motor neuropathy seen principally in adults and usually responds to treatment with intravenous immunoglobulin. We report a 12 year old boy with marked distal weakness in both upper and lower limbs with no proximal involvement. These clinical features appear to be distinct from more common inflammatory childhood neuropathies and are in keeping with a diagnosis of Multifocal Motor Neuropathy. Confirming the diagnosis, serial nerve conduction studies showed a pattern of pure motor conduction block with normal sensory potentials. To our knowledge this is only the second case report of this condition occurring in childhood.

Aim To describe the frequency and causes of death in children with epilepsy, ascertain the contribution of seizure disorder to cause of death, and compare with rates of sudden unexplained death in children without epilepsy. Method This study was a retrospective review of clinical and death certificate records. It examined two UK population-based samples of deaths in children with epilepsy from 1 month to 18 years, together comprising the largest reported series of deaths in children with epilepsy (n=265). Results In approximately two-thirds, the death was not due to the seizure disorder. Rates of unexplained death were similar in the two samples at 7.3% and 9.7%: all were in children with symptomatic or presumed symptomatic epilepsy. There were no unexplained deaths in the children with idiopathic epilepsy. Four per cent of the deaths were of children experiencing acute symptomatic seizures as part of their final illness. The risk of unexpected, unexplained death in children with idiopathic epilepsy is not more than 65 per 100 000 child-years. Interpretation Epilepsy is associated with an increased risk of death in childhood but this risk is almost entirely confined to those with an associated neurodevelopmental disorder. The risk of unexpected, unexplained death in children with idiopathic epilepsy is extremely small.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited neuromuscular condition resulting from recessive mutations in the immunoglobulin mu-binding protein (IGHMBP2) gene. Affected individuals characteristically present in infancy with progressive distal weakness and respiratory distress secondary to diaphragmatic weakness. Considerable clinical heterogeneity has been described both in its presentation and phenotype in childhood; however little data pertaining to phenotype in adulthood have been reported to date. This report describes a 21 year old woman with genetically confirmed SMARD1 who has stable muscle weakness, normal cognitive abilities and is able to lead a socially integrated lifestyle, using mechanical ventilation only overnight. This report adds new evidence for clinical variability throughout the course of SMARD1.

The NKX2-1 (TTF-1 or TITF-1) gene on chromosome 14q13 codes for the thyroid transcription factor 1 (TTF-1). It is expressed in the developing brain, lung, and thyroid. Defects have been associated with chorea, hypothyroidism, and lung disease, comprising the “brain-thyroid-lung syndrome.” We describe here 3 cases of novel missense mutation (c.626G>C; p.Arg209Pro) in NKX2-1 in 2 generations of a nonconsanguinous family. Firstly 2 sons were affected by childhood-onset hypothyroidism and a movement disorder characterized by ataxia in the early years followed by the emergence of a superimposed chorea. The mutation was also found in the granddaughter, when she presented with the same clinical features. We hypothesize that the mutation arose as a result of gonadal mosaicism, as the mutation was not detected in leucocyte DNA from either grandparent. The features are consistent with a diagnosis of Brain-thyroid-lung syndrome, which previously could have been classified as benign hereditary chorea with hypothyroidism.

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, idiopathic partial epilepsy characterized by clusters of motor seizures occurring in sleep. We describe a mutation of the beta2 subunit of the nicotinic acetylcholine receptor, effecting a V287M substitution within the M2 domain. The mutation, in an evolutionary conserved region of CHRNB2, is associated with ADNFLE in a Scottish family. Functional receptors with the V287M mutation are highly expressed in Xenopus oocytes and characterized by an approximately 10-fold increase in acetylcholine sensitivity. CHRNB2 is a new gene for idiopathic epilepsy, the second acetylcholine receptor subunit implicated in ADNFLE.

Background Aicardi syndrome (AS) is a rare neurodevelopmental disorder characterized by the triad of corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. Most patients with AS also have intractable epilepsy, moderate to severe learning disability, and a reduced life expectancy. An X-linked dominant inheritance caused by de novo mutations pattern, lethal in males, is postulated, but the gene has not yet been isolated. There are three case reports of 47 XXY males with classic features of AS who all had severe developmental disability. Case report We report a case of a 3.5-year old 47 XXY male with the classic triad of Aicardi syndrome but with good seizure control and mild learning disability.

We present a case of vertical gaze palsy in a 13-year-old girl caused by underlying infective endocarditis, secondary to an infected navel piercing. This case illustrates that infective endocarditis does not always present with classic signs. J Pediatr Ophthalmol Strabismus 2006;43:41-43. AUTHORS The authors are from Ninewells Hospital, Dundee, Scotland. Originally submitted March 30, 2004. Accepted for publication November 19, 2004. Address reprint requests to Dr. Andrew Ferguson, Department of Ophthalmology, Ninewells Hospital, Dundee DD1 9SY, Scotland. Presented in part at the Annual Meeting of the Scottish Ophthalmological Club; October 3, 2003; Erskine, Scotland.

To describe the frequency and causes of death in children with epilepsy, ascertain the contribution of seizure disorder to cause of death, and compare with rates of sudden unexplained death in children without epilepsy.This study was a retrospective review of clinical and death certificate records. It examined two UK population-based samples of deaths in children with epilepsy from 1 month to 18 years, together comprising the largest reported series of deaths in children with epilepsy (n=265).In approximately two-thirds, the death was not due to the seizure disorder. Rates of unexplained death were similar in the two samples at 7.3% and 9.7%: all were in children with symptomatic or presumed symptomatic epilepsy. There were no unexplained deaths in the children with idiopathic epilepsy. Four per cent of the deaths were of children experiencing acute symptomatic seizures as part of their final illness. The risk of unexpected, unexplained death in children with idiopathic epilepsy is not more than 65 per 100,000 child-years.Epilepsy is associated with an increased risk of death in childhood but this risk is almost entirely confined to those with an associated neurodevelopmental disorder. The risk of unexpected, unexplained death in children with idiopathic epilepsy is extremely small.

It is important to determine the reproducibility of objective measures of gait in children with motor disorders in order that the effect of interventions to improve gait can be monitored. Data for walking velocity and vertical ground reaction force expressed as a percentage of body weight were collected from 15 normal children and 11 with spastic cerebral palsy. Five recordings were obtained for each foot of each child on 3 consecutive days, and calculations of variability made for each set of five recordings. Children with cerebral palsy had slower walking velocities and greater ground reaction force values, and both these parameters had low intraindividual variation for both normal children and those with cerebral palsy (coefficients of variation < 12.5%). This good reproducibility applied to intrasubject and intraday variability; no learning effect was seen over 3 days' recordings. There was no significant difference in variability whether the first three recordings or all five were used. These techniques of gait measurement in children have good reproducibility and a potential role in the objective assessment of medical and surgical interventions.

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OBJECTIVE: To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. METHODS: An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals. RESULTS: Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete. CONCLUSIONS: Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures.

Objective To assess changes between 2012 and 2014 in the quality of paediatric clinical and nursing care for UK children and young people affected with seizures and epilepsies. Methods Epilepsy12, a UK wide audit, commenced in 2009 with the aim of evaluating epilepsy care against NICE and SIGN guidelines. All NHS hospital and community paediatric services managing children with epilepsy were invited to participate. National key recommendations and local action plans were made after Round 1. Round 2 was undertaken between 2013 and 2014 to assess changes since Round 1 and results are reported here. Children referred for first EEG were used to find a new cohort of eligible children aged 1 month to 16 years receiving a first paediatric assessment between January and April 2013 for afebrile paroxysmal episodes. Retrospective case-note analysis was undertaken using a specifically designed web-based platform and audit pack. Service descriptor data were collected from secondary services on census day, 1 January 2014. Patient reported experience measure (PREM) questionnaires were collected from sequential children with epilepsy and their carers/parents attending clinics between February and March 2014. Results 192/196 paediatric services enrolled. 186 units provided service descriptor data, 174 clinical audit data and 145 PREM data. The clinical cohort consisted of 3449 patients; median age 5.2 years; male: female 55:45%. Anonymised PREM data were received from 2335 parents, carers, children and young people. 45% of first assessments occurred within an acute presentation. 35% of children had epilepsy diagnosed by 12 months. 22.6% of children had a documented neurodisability. 68% of paediatric services now have at least one Epilepsy Specialist Nurse (ESN). There has been a significant increase in percentage of children having ESN input; access to a paediatrician with expertise in epilepsies; appropriate assessment, classification and investigations in 2014 compared to 2012. PREM data showed 88% (1897/2148) overall satisfaction with services; 20% thought that staff are not good at working together. Conclusion There is evidence of significant improvements in the provision of medical and nursing epilepsy care. However, many children still do not receive recommended practice and access fully resourced paediatric epilepsy services.

Occasionally, but more often than has been reported, true epileptic seizures are triggered by non-epileptic syncopes. This combination of syncope and epileptic seizure has been called an anoxic-epileptic seizure. A few examples of such anoxic-epileptic seizures, including the induction of status epilepticus, have been reported in books and medical journals, but no video-recordings have been published. We show here home video recordings of the first three known examples of the transition from the triggering syncope and anoxic seizure, to the subsequent epileptic seizure. In the first two children, a neurally-mediated syncope, probably mediated by prolonged expiratory apnoea (so-called breath-holding spells), induces a long, clonic epileptic seizure with some features of myoclonic absence. In the third example, a compulsive Valsalva in an older autistic child provokes a vibratory tonic epileptic seizure. In addition, we show two further video clips of the most usual type of epileptic seizure induced by syncopes in very young children. In one, the video recording begins after the end of the triggering syncope and shows a rhythmic clonic seizure that includes repetitive vocalizations. The final recoding is of a spontaneous epileptic seizure with features of myoclonic absence: this child had both epilepsy and identical episodes induced by syncopes, that is, anoxic- epileptic seizures. Not only paediatricians and paediatric neurologists, but also adult neurologists and epileptologists in general, should be aware of the important clinical scenario of true epileptic seizures induced by syncopes. This phenomenon is not considered in any international classification. (Published with videosequences)

Fetal & Neonatal Brain Injury. Mechanisms, management and the risks of practice. David K Stevenson, Philip Sunshine, eds. [Pp 665; £175 paperback.] Oxford University Press, 1997. ISBN 0-19-262640-X I enjoyed delving into this book. The editors acknowledge that the series of chapters by individual authors had resulted in some overlap and repetition but that it allowed individual prose styles to come through. That is indeed the case and makes the narrative style easy to …

Aims To assess the quality of paediatric care for UK children, young people and families affected by epilepsies and seizures. Methods In 2009, the RCPCH ‘Epilepsy 12’ Audit began a pragmatic audit of UK paediatric epilepsy care against NICE and SIGN guidelines. A project board representing UK stakeholders invited participation from all relevant local NHS hospital and community paediatric services. Audit domains were: 1. clinical service description; 2. 12 clinical performance indicators and 3. a specially developed patient-related experience measure (PREM). The service description was completed at the onset. Lists of children referred for electro-encephalography helped identify eligible children aged 1 month to 16 years who had received a first paediatric assessment for afebrile paroxysmal episode (s) within a 6 month period from 2009. Retrospective data from case-notes review of the subsequent 12 months were entered onto a web-based database. Children commenced on anti-epileptic medication were invited by letter to complete an anonymised PREM questionnaire. Results Data collection was completed in November 2011. All 197 audit units and 21 regions enrolled. Participation rates were 98% (193/197) for clinical service description, 94% (186/197) for clinical audit and 87% (172/197) for PREM domains. The clinical cohort consisted of 4991 patients, median age 6.3 years, M:F 54:46%. 44% (2175/4991) of first paediatric assessments occurred within an acute presentation. 19% (974/4991) of children had a documented neurodisability. Diagnosis of paroxysmal episode (s) at first assessment was recorded as: 46% (2298/4991) epileptic; 18% (897/4991) non-epileptic and 36% (1796/4991) uncertain. Diagnosis after 12 months of care was recorded as: 6% (312/4991) single or ‘single cluster’ epileptic seizure (s); 36% (1774/4991) 2 or more epileptic seizures; 44% (2198/4991) non-epileptic and 14% (707/4991) uncertain. Conclusion The paediatric epilepsy community, including acute and community services and patient organisations, has contributed to the largest description of the performance of paediatric epilepsy care in the UK to date. From the preliminary analysis, just over half the children with paroxysmal episode (s) presented non-acutely with one third eventually diagnosed as having recurrent epileptic seizures. Over the 12 months of follow-up, diagnosis varied and diagnostic uncertainty decreased. Final results will be placed in the public domain in September 2012.

A 3-week-old infant with meningococcal meningitis is described whose clinical course was complicated by paraparesis and urinary retention. This rare complication of meningococcal meningitis has not previously been reported in the neonatal age group.