Scoping review and expert-based consensus recommendations for assessment and management of psychogenic non-epileptic (functional) seizures (PNES) in children: A report from the Pediatric Psychiatric Issues Task Force of the International League Against Epilepsy.

Limited guidance exists regarding the assessment and management of psychogenic non-epileptic seizures (PNES) in children. Our aim was to develop consensus-based recommendations to fill this gap. The members of the International League Against Epilepsy (ILAE) Task Force on Pediatric Psychiatric Issues conducted a scoping review adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-SR) standards. This was supplemented with a Delphi process sent to pediatric PNES experts. Consensus was defined as ≥80% agreement. The systematic search identified 77 studies, the majority (55%) of which were retrospective (only one randomized clinical trial). The primary means of PNES identification was video electroencephalography (vEEG) in 84% of studies. Better outcome was associated with access to counseling/psychological intervention. Children with PNES have more frequent psychiatric disorders than controls. The Delphi resulted in 22 recommendations: Assessment-There was consensus on the importance of (1) taking a comprehensive developmental history; (2) obtaining a description of the events; (3) asking about potential stressors; (4) the need to use vEEG if available parent, self, and school reports and video recordings can contribute to a "probable" diagnosis; and (5) that invasive provocation techniques or deceit should not be employed. Management-There was consensus about the (1) need for a professional with expertise in epilepsy to remain involved for a period after PNES diagnosis; (2) provision of appropriate educational materials to the child and caregivers; and (3) that the decision on treatment modality for PNES in children should consider the child's age, cognitive ability, and family factors. Comorbidities-There was consensus that all children with PNES should be screened for mental health and neurodevelopmental difficulties. Recommendations to facilitate the assessment and management of PNES in children were developed. Future directions to fill knowledge gaps were proposed.

"Untold Distress" - How did the COVID-19 pandemic affect those who had previously experienced an epilepsy-related bereavement?

PURPOSE: This study explores the impact of the COVID-19 pandemic and lockdown on people with lived experience of sudden bereavement as a consequence of an epilepsy-related death. METHOD: We developed an online survey with fixed choice and open-ended response formats to collect data on grief symptoms and well-being during the pandemic. A total of 275 people bereaved by epilepsy-related deaths between 1980-2020 participated in this study: with 79 participants providing free-text responses for inductive thematic analysis. RESULTS: In total, 84% of participants reported a bereavement following a sudden death of a person aged under 40, with 22% aged 19 and under. The majority (77% of participants) reported they had been thinking more about the person who died compared to before the COVID-19 outbreak and 54% had experienced more distressing flashbacks to the time of death. Additionally, 61% reported more difficulties falling asleep and staying asleep and 88% of participants reported that the outbreak and response measures had negatively impacted upon their mental health. Medication was being taken for a diagnosed mental health condition by 33% of participants at the time of the study. We categorized these negative experiences during COVID in to four main-themes - 'Family', 'Lifestyle', 'Personal Well-being' and 'Health Services and Shielding Populations'. The 'Personal Well-being' theme was inextricably linked to grief symptoms including 'reflection on the death', 're-exposure to feeling', 'grief', 'salience of sudden deaths in the media' and 'inability to commemorate anniversaries and rituals'. These findings were consistent for bereaved people irrespective of the recency of the death. CONCLUSION: This study highlights the impact of the disruption caused by the pandemic on the grief-management of those bereaved by epilepsy-related death. Grief is not static and its management is connected to the psychosocial and formal support structures that were disrupted during the pandemic. The removal of these supports had an adverse effect upon the mental health and well-being of many bereaved. There is an urgent need for a system-wide transformation of epilepsy and mental health services to be inclusive of the needs and experiences of people impacted by sudden deaths in epilepsy and the contribution of the specialist service developed by families and clinicians to meet this gap.

Paediatric sudden unexpected death in epilepsy: A parental report cohort.

BACKGROUND: Sudden unexpected death in epilepsy (SUDEP) accounts for a large percentage of deaths in children with epilepsy. Contributing factors to paediatric SUDEP are incompletely understood. AIMS OF STUDY: The Epilepsy Deaths Register (EDR) is an anonymized register that compiles information on deaths related to epilepsy, across all ages and epilepsy classifications. Using the EDR, we sought to identify key risk factors for SUDEP in children to assist the development of preventive measures. METHODS: All registrations between the ages of 1 and 16 years were reviewed to identify definite or probable SUDEP. These cases were analysed to identify common demographics, comorbidities, monitoring, treatments and circumstances near to the deaths. RESULTS: We identified forty-six cases (27 males) of definite or probable SUDEP. Paediatric SUDEP is more common in a 12- to 16-year age group and in those with neuro-disability. Most paediatric SUDEP occurs during apparent sleep. There were four cases with a vagus nerve stimulator. SUDEP can occur early after the onset of seizures. CONCLUSIONS: This is the largest single cohort of SUDEP reported in children. Reports from caregivers can augment population data. Surveillance in sleep is a priority area of development.

Determinants of health and wellbeing in refractory epilepsy and surgery: The Patient Reported, ImpleMentation sciEnce (PRIME) model.

This paper offers a new way of understanding the course of a chronic, neurological condition through a comprehensive model of patient-reported determinants of health and wellbeing: The Patient Reported ImpleMentation sciEnce (PRIME) model is the first model of its kind to be based on patient-driven insights for the design and implementation of initiatives that could improve tertiary, primary, and community healthcare services for patients with refractory epilepsy, and has broad implications for other disorders; PRIME focuses on: patient-reported determinants of health and wellbeing, pathways through care, gaps in treatment and other system delays, patient need and expectation, and barriers and facilitators to high-quality care provision; PRIME highlights that in the context of refractory epilepsy, patients value appropriate, clear, and speedy referrals from primary care practitioners and community neurologists to specialist healthcare professionals based in tertiary epilepsy centers. Many patients also want to share in decisions around treatment and care, and gain a greater understanding of their debilitating disease, so as to find ways to self-manage their illness more effectively and plan for the future. Here, PRIME is presented using refractory epilepsy as the exemplar case, while the model remains flexible, suitable for adaptation to other settings, patient populations, and conditions; PRIME comprises six critical levels: 1) The Individual Patient Model; 2) The Patient Relationships Model; 3) The Patient Care Pathways Model; 4) The Patient Transitions Model; 5) The Pre- and Postintervention Model; and 6) The Comprehensive Patient Model. Each level is dealt with in detail, while Levels 5 and 6 are presented in terms of where the gaps lie in our current knowledge, in particular in relation to patients' journeys through healthcare, system intersections, and individuals adaptive behavior following resective surgery, as well as others' views of the disease, such as family members.

Educational attainment of children born to mothers with epilepsy.

OBJECTIVE: Small prospective studies have identified that children exposed to valproate in utero have poorer scores on cognitive testing. We wanted to identify whether children exposed to antiepileptic drugs (AEDs) in utero have poorer school performance. METHODS: We used anonymised, linked, routinely collected healthcare records to identify children born to mothers with epilepsy. We linked these children to their national attainment Key Stage 1 (KS1) tests in mathematics, language and science at the age of 7 and compared them with matched children born to mothers without epilepsy, and with the national KS1 results. We used the core subject indicator (CSI) as an outcome measure (the proportion of children achieving a minimum standard in all subjects) and the results in individual subjects. RESULTS: We identified 440 children born to mothers with epilepsy with available KS1 results. Compared with a matched control group, fewer children with mothers being prescribed sodium valproate during pregnancy achieved the national minimum standard in CSI (-12.7% less than the control group), mathematics (-12.1%), language (-10.4%) and in science (-12.2%). Even fewer children with mothers being prescribed multiple AEDs during pregnancy achieved a national minimum standard: CSI (by -20.7% less than the control group), mathematics (-21.9%), language (-19.3%) and science (-19.4%). We did not observe any significant difference in children whose mothers were prescribed carbamazepine or were not taking an AED when compared with the control group. CONCLUSIONS: In utero exposure to AEDs in combination, or sodium valproate alone, is associated with a significant decrease in attainment in national educational tests for 7-year-old children compared with both a matched control group and the all-Wales national average. These results give further support to the cognitive and developmental effects of in utero exposure to sodium valproate as well as multiple AEDs, which should be balanced against the need for effective seizure control for women during pregnancy.

The implications of the new approach to classification: Adults with an intellectual disability.

The new ILAE classification offers the potential for clarity and improved translation of the understanding of the nature of epilepsy in people with an intellectual disability. This is particularly true in the use of the term genetic epilepsy and the removal of the term cryptogenic. However, the definition of the "dyscognitive" nature of seizures needs greater definition in those with coexistent cognitive impairment. This is of particular importance when ameliorating risk associated with impaired consciousness. This article is part of a Special Issue entitled "The new approach to classification: Rethinking cognition and behavior in epilepsy".

Severe Intellectual Disability: Systematic Review of the Prevalence and Nature of Presentation of Unipolar Depression.

BACKGROUND: The diagnosis of depression in severe and profound intellectual disability is challenging. Without adequate skills in verbal self-expression, standardized diagnostic criteria cannot be used with confidence. The purpose of this systematic review was to investigate the assessment and diagnosis of unipolar depression in severe and profound intellectual disability. The review aimed to examine the methods used to assess for depression. The secondary aim was to explore the frequency and symptoms of depression. METHODS: The PRISMA (2009) Checklist for systematic review was followed, and a search of electronic databases was undertaken. Nine studies were included in the qualitative synthesis from over 2000 records identified. RESULTS: The quality of the studies was assessed and scored, with a wide range of results. Individual studies scored between 2 and 7 of a maximum possible score of 8. The diagnostic tools utilized by each of the studies were assessed and compared. CONCLUSIONS: In terms of the methods used to assess for depression, results were varied. This was due to the heterogeneous nature of the individual study designs. The Aberrant Behaviour Checklist consistently showed promise, in particular when combined with other instruments or clinical examination. Qualitative analysis of the selected studies has shown a wide variation in the quality of primary research in this field, with more required to make firm conclusions regarding the diagnosis, frequency and presentation of depression in severe and profound intellectual disability.

Perspectives of family members of people with an intellectual disability to a major reconfiguration of living arrangements for people with intellectual disability in Ireland.

AIM: To document the views of family members of people with an intellectual disability regarding implementation of a personalized model of social support in Ireland. METHOD: Forty family members participated in six focus groups. Data were thematically analysed. RESULTS: Family members' preference for particular types of living arrangements were highly reflective of their lived experience. Facilitators to community living included timely information on proposed moves, adequate staffing, suitable properties and locations and consideration of the characteristics of individuals who share a property. Barriers included high support needs, advanced age, a fear of relinquishing current supports, a fear of the sustainability of newer models of residential support and concerns about community opposition. CONCLUSION: The family perspective to reform is characterized by fear and suspicion of the motivation behind these reforms, with cost efficiencies being perceived as a main driver. Greater information is required to empower families to make informed decisions.

A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health.

As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical severity, current abilities and health of 91 participants were analyzed in relation to diagnostic, clinical and genetic mutation categories. Early truncating mutations or large deletions were associated with greater severity. Early regression was also associated with greater severity. All three were associated with lower current abilities. Epilepsy and weight, gastrointestinal and bowel problems were common co-morbidities. Participants with classic RTT had greater health problems than those with atypical RTT. A substantial minority of respondents reported fairly frequent signs of possible pain experienced by their relative with RTT. Overall, the study provides new data on the current abilities and general health of people with RTT and adds to the evidence that the severity of the condition and variation of subsequent disability, albeit generally within the profound range, may be related to gene mutation. The presence of certain co-morbidities represents a substantial ongoing need for better health. The experience of pain requires further investigation.

Epilepsy and deprivation, a data linkage study.

OBJECTIVE: To investigate whether the link between epilepsy and deprivation is due to factors associated with deprivation (social causation) or factors associated with a diagnosis of epilepsy (social drift). METHODS: We reviewed electronic primary health care records from 2004 to 2010, identifying prevalent and incident cases of epilepsy and recording linked deprivation scores. Logistic and Poisson regression models were used to calculate odds ratios and incidence rate ratios. The change in deprivation was measured 10 years after the initial diagnosis of epilepsy for a cohort of people. RESULTS: Between 2004 and 2010, 8.1 million patient-years of records were reviewed. Epilepsy prevalence and incidence were significantly associated with deprivation. Epilepsy prevalence ranged from 1.13% (1.07-1.19%) in the most deprived decile to 0.49% (0.45-0.53%) in the least deprived decile (adjusted odds ratio 0.92, p < 0.001). Epilepsy incidence ranged from 40/100,000 per year in the most deprived decile to 19/100,000 per year in the least deprived decile (adjusted incidence rate ratio 0.94, p < 0.001). There was no statistically significant change in deprivation index decile 10 years after a new diagnosis of epilepsy (mean difference -0.04, p = 0.85). SIGNIFICANCE: Epilepsy prevalence and incidence are strongly associated with deprivation; the deprivation score remains unchanged 10 years after a diagnosis of epilepsy. These findings suggest that increasing rates of epilepsy in deprived areas are more likely explained by social causation than by social drift. The nature of the association between incident epilepsy and social deprivation needs further exploration.

A White Paper on the medical and social needs of people with epilepsy and intellectual disability: the Task Force on Intellectual Disabilities and Epilepsy of the International League Against Epilepsy.

This White Paper builds on the publication of the International League Against Epilepsy (ILAE) and International Bureau for Epilepsy (IBE) report "Listening for a change-medical and social needs of people with intellectual disability who have epilepsy" (Listening for a change the medical and social needs of people with epilepsy and intellectual disability, ILAE, 2013). The Paper presents an overview of the recommendations of the report, which aim to improve the health and social care of this important population of people with epilepsy worldwide. Actions in four domains are indicated: (1) the development of standards and initiatives that would enhance diagnosis, pathways to investigation, and treatment; (2) the development of guidelines for treatment, specifically best practice in the management of antiepileptic drugs including rescue medication; (3) the development of standards for primary care, multidisciplinary teamwork, and clinical consultations, with emphasis on the need to enhance communication and improve access to information; and (4) the enhancement of links among different stakeholders including medical services, educational establishments, employment services, organizations providing opportunities for social engagement, and family members. The breadth of needs of this population is a challenge to the epilepsy world, spanning all the professional groupings, care providers, and the research modalities in epilepsy.

Contact with primary care: the experience of people with intellectual disabilities.

BACKGROUND: People with intellectual disabilities experience disparities in their health and health care. Annual health checks are intended to counter such disparity by improving access to primary health care. However, little is known about their experience of having a health check or other types of contact with primary care services. MATERIALS AND METHODS: The findings of two studies which used focus groups were combined. 102 people with intellectual disabilities participated in the focus groups. RESULTS: Participants' experiences of primary care services generally, and health checks in particular, were positive. However, unanimity was rare on any of the topics discussed and a number of areas of dissatisfaction emerged. CONCLUSIONS: Further studies with larger and more representative samples are necessary as feedback from people with intellectual disabilities about their experience of contact with primary care staff might help to enhance GP knowledge about their health requirements.

The importance of the experiences of initial diagnosis and treatment failure when switching antiepileptic drugs.

We sought to understand the issues that lead from the need to change antiepileptic drugs (AEDs) and how this may influence someone's feelings regarding swapping to another drug. We conducted semistructured interviews with 14 people with epilepsy, four months after changing from AED monotherapy. Interviews were digitally recorded, transcripts were coded independently, and thematic analysis was undertaken through group work. There were seven major themes: failure, the reason behind the failure, and the experience itself; expectations; previous experience; personality and life events; side effects; impact of diagnosis; and outcome. Clinical outcome and patients' ideas of outcome were often discordant. Each drug change arises from a position of failure that elicits strong feelings of loss of control and vulnerability in participants. Recognizing the need for counseling of targeted individuals undergoing AED change is key. Unresolved emotional issues surrounding biographical disruption following diagnosis were potent modifiers of the change process.

Health checks for adults with intellectual disability and association with survival rates: a linked electronic records matched cohort study in Wales, UK.

OBJECTIVE: To examine if mortality rates are lower in people with intellectual disability who have had a health check compared with those who have not had health checks. SETTING: General practice records of 26 954 people with an intellectual disability in Wales between 2005-2017, of which 7650 (28.4%) with a health check were matched 1:2 with those without a health check. PRIMARY OUTCOME MEASURE: Office of National Statistics mortality data; a Cox regression was utilised to examine time to death adjusted for comorbidities and gender. RESULTS: Patients who had a health check were stratified by those who (1) had a confirmed health check, that is, Read Code for a health check (n=7650 (28.4 %)) and (2) had no evidence of receiving a health check in their medical record. Patients with a health check were matched for age at time of health check with two people who did not have a health check. The health check was associated with improved survival for those with autism or Down's Syndrome (HR 0.58 (95% CI 0.37 to 0.91) and HR 0.76 (95% CI 0.64 to 0.91), respectively). There was no evidence of improved survival for those diagnosed with diabetes or cancer. The people who had a health check were more likely to be older, have epilepsy and less likely to have autism or Down's syndrome. CONCLUSIONS: Health checks are likely to influence survival if started before a person is diagnosed with a chronic condition, especially for people with autism or Down's syndrome.

A prospective case control study of psychiatric disorders in adults with epilepsy and intellectual disability.

PURPOSE: No study to date has prospectively investigated the impact of epilepsy on psychiatric disorders among adults with an intellectual disability (ID). This study aimed to determine prospectively the influence of epilepsy on the development of psychiatric disorders in adults with ID. METHOD: Psychiatric symptoms were measured prospectively over a 1-year period among 45 adults with ID and active epilepsy and 45 adults with ID without epilepsy, matched on level of ID. The 1-year incidence rate (IR) of commonly occurring Axis 1 psychiatric disorders was compared with and without controlling for possible confounding factors. Total psychiatric symptom scores over the period were compared between the two groups using repeated-measures analysis of covariance. KEY FINDINGS: Adults with epilepsy and ID had a more than seven times increased risk for developing psychiatric disorders, particularly depression and unspecified disorders of presumed organic origin, including dementia, over a 1-year period compared to those with ID only. Comparison of the psychiatric scores showed the epilepsy group to have significantly higher unspecified disorder and depression symptom scores. SIGNIFICANCE: The findings point to an increased risk of depression and unspecified disorders, including dementia, among adults with ID and epilepsy. Further exploration of the nature and treatment of these unspecified disorders may help the care of people with epilepsy and ID.

International consensus clinical practice statements for the treatment of neuropsychiatric conditions associated with epilepsy.

In order to address the major impact on quality of life and epilepsy management caused by associated neuropsychiatric conditions, an international consensus group of epileptologists met with the aim of developing clear evidence-based and practice-based statements to provide guidance on the management of these conditions. Using a Delphi process, this group prioritized a list of key management areas. These included: depression, anxiety, psychotic disorders, nonepileptic seizures, cognitive dysfunction, antiepileptic drug (AED)-related neurobehavioral disorders, suicidality, disorders in children and adolescents, disorders in children with intellectual disability, and epilepsy surgery. Clinical practice statements were developed for each area and consensus reached among members of the group. The assessment and management of these conditions needs to combine knowledge of psychiatric disorders, knowledge of the impact of epilepsy and its treatment on psychopathology, and an ability to deliver care within epilepsy services. The aim of these statements is to provide guidance on quality care for people with epilepsy that have a range of neuropsychiatric disorders.

Ageing and health status in adults with intellectual disabilities: results of the European POMONA II study.

BACKGROUND: POMONA II was a European Commission public health-funded project. The research questions in this article focus on age-specific differences relating to environmental and lifestyle factors, and the 17 medical conditions measured by the POMONA Checklist of Health Indicators (P15). METHOD: The P15 was completed in a cross-sectional design for a stratified sample of 1,253 adults with ID across 14 European member states. RESULTS: Older people (55+) were more likely to live in larger residential homes. Rates of smoking and use of alcohol were lower than in the general population but were higher with older age. More than 60% of older adults had a sedentary lifestyle. Cataract, hearing disorder, diabetes, hypertension, osteoarthritis/arthrosis, and osteoporosis were positively associated with advancing age; allergies and epilepsy, negatively associated. CONCLUSIONS: Some evidence of health disparities was found for older people with ID, particularly in terms of underdiagnosed or inadequately managed preventable health conditions.

Determining the role and responsibilities of the Australian epilepsy nurse in the management of epilepsy: a study protocol.

INTRODUCTION: Epilepsy is a common neurological condition affecting between 3% and 3.5% of the Australian population at some point in their lifetime. The effective management of chronic and complex conditions such as epilepsy requires person-centred and coordinated care across sectors, from primary to tertiary healthcare. Internationally, epilepsy nurse specialists are frequently identified as playing a vital role in improving the integration of epilepsy care and enhancing patient self-management. This workforce has not been the focus of research in Australia to date. METHODS AND ANALYSIS: This multistage mixed-method study examines the role and responsibilities of epilepsy nurses, particularly in primary and community care settings, across Australia, including through the provision of a nurse helpline service. A nationwide sample of 30 epilepsy nurses will be purposively recruited via advertisements distributed by epilepsy organisations and through word-of-mouth snowball sampling. Two stages (1 and 3) consist of a demographic questionnaire and semistructured interviews (individual or group) with epilepsy nurse participants, with the thematic data analysis from this work informing the areas for focus in stage 3. Stage 2 comprises of a retrospective descriptive analysis of phone call data from Epilepsy Action Australia's National Epilepsy Line service to identify types of users, their needs and reasons for using the service, and to characterise the range of activities undertaken by the nurse call takers. ETHICS AND DISSEMINATION: Ethics approval for this study was granted by Macquarie University (HREC: 52020668117612). Findings of the study will be published through peer-reviewed journal articles and summary reports to key stakeholders, and disseminated through public forums and academic conference presentations. Study findings will also be communicated to people living with epilepsy and families.