OBJECTIVE:Dravet syndrome is a developmental and epileptic encephalopathy characterized by drug-resistance, lifelong seizures, and significant comorbidities including intellectual and motor impairment. Receiving a diagnosis of Dravet syndrome is challenging for parents/caregivers, and little research has focused on how the diagnosis should be given. A Delphi consensus process was undertaken to determine key aspects for healthcare professionals (HCPs) to consider when communicating a Dravet syndrome diagnosis to parents/caregivers. METHODS:Following a literature search and steering committee review, 34 statements relating to the first diagnosis consultation were independent- and anonymously voted on (from 1, totally inappropriate, to 9, totally appropriate) by an international group of expert child neurologists, neuropsychiatrists, nurses, and patient advisory group (PAG) representatives. The statements were divided into five chapters: (i) communication during the first diagnosis consultation, (ii) information to be delivered during the first diagnosis consultation, (iii) points to be reiterated at the end of the first diagnosis consultation, (iv) information to be delivered at subsequent consultations, and (v) communication around genetic testing. Statements receiving ≥ 75% of the votes with a score of ≥7 and/or with a median score of ≥8 were considered consensual. RESULTS:The statements were evaluated by 44 HCPs and PAG representatives in the first round of voting; 29 statements obtained strong consensus, 3 received good consensus, and 2 did not reach consensus. The committee reformulated and resubmitted 4 statements for evaluation (42/44 voters): 3 obtained strong consensus and 1 remained not consensual. The final consensual recommendations include guidance on consultation setting, key disease aspects to convey, how to discuss genetic testing results, disease evolution, and the risk of SUDEP, among other topics. SIGNIFICANCE:It is hoped that this international Delphi consensus will facilitate a better-structured initial diagnosis consultation and offer further support for parents/caregivers at this challenging time of learning about Dravet syndrome. PLAIN LANGUAGE SUMMARY:Diagnosis of Dravet syndrome, a rare and severe form of childhood-onset epilepsy, is often challenging to give to parents. This international study developed guidance and recommendations to help healthcare professionals better structure and personalize this disclosure. By following this advice, doctors can provide more tailored support to families, improving their understanding and management of the condition.

Objectives Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy that requires significant caregiver input across the lifespan. This predominantly falls on parents, who are faced with considerable challenges including physical demands, financial burdens, and sustained pressure on mental wellbeing leading to mental health difficulties. We aimed to develop a grounded theory model for the process of coping and adjustment that occurs when caring for a child who has a diagnosis of DS. Methods Using a Constructivist Grounded Theory methodology, we conducted five focus groups, each with 4-6 participants, and 24 in total. They were recruited via convenience sampling through a national Dravet syndrome patient advocacy group. Focus group dialogue was recorded, transcribed, and coded into themes to generate a theory of coping and adjustment that is grounded in the data. Results We developed a model of coping and adjustment for parents caring for a child with Dravet syndrome. The model includes contextual factors that impact on parents (loss and insufficient resource). We found a prominent theme of trauma and explored how parents responded to this trauma over time. All parents described a primary coping response reflecting the high levels of stress they had to contend with. Some parents were able to describe a secondary coping style that appeared to support healthier long-term coping and adjustment. Significance The study provides novel insight into the ways in which parents cope and adjust to caring for a child with DS, with a focus on adapting to trauma. These insights provide the foundation for the creation of targeted therapeutic interventions for parents of children with developmental and epileptic encephalopathies (DEEs), which we outline and discuss.

Background and objectives Dravet Syndrome is a severe developmental and epileptic encephalopathy with significant care needs for affected individuals and families. Our objective was to characterise the caregiver burden and therapeutic needs of families caring for an individual with Dravet Syndrome from child to adulthood, to examine age related differences in co-morbidities, and identify current gaps in health and social care. Methods Cross-sectional national survey conducted by the patient advocacy group Dravet Syndrome UK (DSUK) emailed to registered families caring for an individual with a confirmed diagnosis of Dravet syndrome. To characterise the sample, quantitative data on demographics, diagnostic journey, co-morbidities, therapies, healthcare utilisation, social care and funding, and impact on family life were collected. Qualitative data were analysed using grounded theory to develop a model of impact and service need. Results 165 out of 381 families (43 %) responded. 90 % of adult Dravet syndrome patients waited >12 months to receive a diagnosis, compared to 25 % families with a young child (p < 0.001). 96 % reported intellectual disability as co-morbidity, more frequently observed in older Dravet syndrome individuals (p < 0.001), alongside autism/autistic-like symptoms (χ2 = 15.3, df = 3 p = 0.001) and scoliosis (χ2 = 28.4, df = 3, p < 0.001). Sleep problems are associated with greater impact on caregiver's mental well-being (χ2 = 13.2, df = 2, p < 0.001). 77 % of families wished more discussions about sudden unexpected death in epilepsy (SUDEP) and 50 % rated the paediatric to adult transition experience as ‘poor’. 90 % of caregivers were unable to continue working as normal with negative impact on their quality of life (p = 0.024) and mental well-being (p = 0.007). Discussion Families are profoundly impacted by Dravet syndrome. Their experience changes over time as people with Dravet syndrome become older and present with increasing levels of health, cognitive and behavioural comorbidities. Families will benefit from improved communication with health care professionals, psychosocial interventions and better access to social care.

Background and Objectives Dravet syndrome (DS) is one of the most common monogenic epilepsies. Alongside the core seizure and developmental phenotypes, problems with appetite, swallowing, and weight loss are frequently reported, necessitating gastrostomy in some. We explored the burden of feeding difficulties and need for gastrostomy across 3 DS populations in the United Kingdom. We document caregiver opinion and postgastrostomy outcomes, and provide guidance regarding feeding issues and gastrostomy in DS. Methods A retrospective, observational study was conducted; data were collected from medical records of 124 individuals with DS attending clinics at the National Hospital for Neurology and Neurosurgery, and Great Ormond Street Hospital, and from 65 DS caregiver responses to a UK-wide survey. Results In total, 64 of 124 (52%) had at least 1 feeding difficulty; 21 of 124 (17%) had a gastrostomy, and gastrostomy was being considered in 5%; the most common reasons for gastrostomy were poor appetite (81%) and weight loss/failure to gain weight (71%). Median age at gastrostomy was 17 years (range 2.5-59). Multivariate analyses identified several factors that in combination contributed to risk of feeding difficulties and gastrostomy, including treatment with several antiseizure medications (ASMs), of which stiripentol made a unique contribution to risk of gastrostomy (p = 0.048, odds ratio 3.20, 95% CI 1.01-10.16). Preinsertion, 88% of caregivers were worried about the gastrostomy, with concerns across a range of issues. Postgastrostomy, 88% of caregivers were happy that their child had the gastrostomy, and >90% agreed that the gastrostomy ensured medication compliance, that their child's overall health was better, and that quality of life improved. Discussion Feeding difficulties are common in DS, and 17% require a gastrostomy to address these. Risk factors for feeding difficulties in DS are unknown, but ASMs may play a role. There is a high level of caregiver concern regarding gastrostomy preprocedure; however, postgastrostomy caregiver opinion is positive. Feeding difficulties should be proactively sought during review of people with DS, and the potential need for gastrostomy should be discussed.

Background and Objectives:Dravet syndrome (DS) is one of the most common monogenic epilepsies. Alongside the core seizure and developmental phenotypes, problems with appetite, swallowing, and weight loss are frequently reported, necessitating gastrostomy in some. We explored the burden of feeding difficulties and need for gastrostomy across 3 DS populations in the United Kingdom. We document caregiver opinion and postgastrostomy outcomes, and provide guidance regarding feeding issues and gastrostomy in DS. Methods:A retrospective, observational study was conducted; data were collected from medical records of 124 individuals with DS attending clinics at the National Hospital for Neurology and Neurosurgery, and Great Ormond Street Hospital, and from 65 DS caregiver responses to a UK-wide survey. Results:In total, 64 of 124 (52%) had at least 1 feeding difficulty; 21 of 124 (17%) had a gastrostomy, and gastrostomy was being considered in 5%; the most common reasons for gastrostomy were poor appetite (81%) and weight loss/failure to gain weight (71%). Median age at gastrostomy was 17 years (range 2.5-59). Multivariate analyses identified several factors that in combination contributed to risk of feeding difficulties and gastrostomy, including treatment with several antiseizure medications (ASMs), of which stiripentol made a unique contribution to risk of gastrostomy (p = 0.048, odds ratio 3.20, 95% CI 1.01-10.16). Preinsertion, 88% of caregivers were worried about the gastrostomy, with concerns across a range of issues. Postgastrostomy, 88% of caregivers were happy that their child had the gastrostomy, and >90% agreed that the gastrostomy ensured medication compliance, that their child's overall health was better, and that quality of life improved. Discussion:Feeding difficulties are common in DS, and 17% require a gastrostomy to address these. Risk factors for feeding difficulties in DS are unknown, but ASMs may play a role. There is a high level of caregiver concern regarding gastrostomy preprocedure; however, postgastrostomy caregiver opinion is positive. Feeding difficulties should be proactively sought during review of people with DS, and the potential need for gastrostomy should be discussed.

Background: The COVID-19 pandemic led to the urgent need for accelerated vaccine development. Approved vaccines have proved to be safe and well tolerated across millions of people in the general population. Dravet syndrome (DS) is a severe, early onset, developmental and epileptic encephalopathy. Vaccination is a precipitating factor for seizures. While there is no evidence that vaccine-precipitated seizures lead to adverse outcomes in people with DS, fear surrounding vaccination can remain for caregivers of people with DS, in some cases resulting in rejection of recommended vaccinations, leaving individuals more vulnerable to the relevant infections. A greater understanding of the safety profile of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination in this vulnerable group will help provide guidance for caregivers and clinicians when considering vaccination. Methods: A cross-sectional survey regarding COVID-19 and SARS-CoV-2 vaccine, in people with DS, was conducted by Dravet Syndrome UK (DSUK). Concomitantly, a review of individuals with DS who had recently received the SARS-CoV-2 vaccine, and who are resident at the Chalfont Centre for Epilepsy (CCE), or attend epilepsy clinics at the National Hospital for Neurology and Neurosurgery (NHNN), was undertaken. Results: Thirty-eight people completed the DSUK survey. Thirty-seven percent of caregivers reported being concerned about someone with DS receiving the SARS-CoV-2 vaccine; with some reporting that they would decline a vaccine when offered. Seventy-seven percent had not received any advice from a healthcare professional about the SARS-CoV-2 vaccination. 18/38 were eligible for SARS-CoV-2 vaccination, of whom nine had received their first vaccine dose. Combining the results of the DSUK survey and the review of individuals monitored at CCE or NHNN, fifteen people with DS had received their first dose of the SARS-CoV-2 vaccine. 11/15 (73%) reported at least one side effect, the most common being fatigue (6/15; 40%) and fever (6/15; 40%). Three individuals (20%) reported an increase in seizure frequency after the first vaccine dose. No increase in seizure frequency or duration was reported after the second dose. Conclusion: Overall, these results suggest that SARS-CoV-2 vaccines are safe and well tolerated in individuals with DS, as they are in most people without DS. In most people with DS, SARS-CoV-2 vaccine does not appear to be associated with an increase in the frequency or duration of seizures, even in those who develop fever post-vaccination. Many caregivers are concerned about a person with DS receiving a SARSCoV-2 vaccine, with some reporting that they would decline a SARS-CoV-2 vaccine when offered. It is crucial that healthcare professionals are proactive in providing accurate information regarding the risks and benefits of vaccination in this population, given the potential for serious outcomes from infection. (c) 2021 Elsevier Inc. All rights reserved.

Objectives To understand the risks, impact and outcome of COVID-19 in people affected by Dravet Syndrome (DS). Materials and Methods An anonymous cross-sectional online survey was conducted between June 17 and July 13, 2020, addressed to families of people with DS. Results A total of 116 responses were collected, from families of children (n = 86; 74%) and adults (30; 26%) with DS. The majority (106; 91%) were shielded at the family home during lockdown. Symptoms compatible with COVID-19 were reported in 22 (19%) individuals. Only four individuals with symptoms had a PCR swab test, none of which was positive. Only one symptomatic person had antibody testing (but not swab testing), which was positive. One person had repeatedly positive swab tests whilst in hospital for renal failure, but had no typical symptoms of COVID-19. In 50% of people with DS who developed possible or probable COVID-19 symptoms, seizure worsening was reported, in terms of increased seizure frequency or duration or both. Medical attention was required in 9/22 (41%), all of whom were children. Conclusions In this cohort of people with DS, we observed an infection rate, determined by compatible symptoms, of 19%, with no deaths and benign outcome in most cases despite the underlying complex epilepsy although children often required medical attention. Early adoption of preventative measures, including testing of symptomatic individuals, regular surveillance for people living in residential care facilities, and shielding of individuals with comorbidities increasing the risk of severe outcome, may limit the impact of COVID-19.

Background: Unsafe abortion contributes to maternal mortality worldwide and disproportionately affects the most disadvantaged women and girls; thus, improving the treatment of complications of abortion is essential. Shifting PAC treatment from sharp dilation and curettage (D&C) to the use of aspiration techniques, notably manual vacuum aspiration (MVA), and medical treatment with misoprostol improves health outcomes. Equally critical is ensuring that women have access to voluntary contraception after an abortion to prevent future unintended pregnancies. In humanitarian settings, access to voluntary family planning to disrupt the cycle of unsafe abortion is even more critical because access to quality services cannot be guaranteed due to security risks, migration, and devastation of infrastructure. Save the Children applied a multipronged postabortion care (PAC) approach in the Democratic Republic of the Congo (DRC), Somalia, and Yemen that focused on capacity building; assurance of supplies and infrastructure; community collaboration and mobilization; and monitoring and evaluation. Methods: Program-level data were extracted for each of the 3 countries from the inception of their program through 2017. The sources of information included monthly service delivery reports that tracked key PAC indicators as well as qualitative data from evaluations of community mobilization activities. Results: The number of PAC clients increased in all countries. In the DRC in 2012, 19% of PAC clients requiring treatment received D & C; in 2017 the percentage was reduced to 3%. In 2013, 25% of all PAC clients in Yemen were treated with D & C; this percentage was reduced to 3% in 2017. The proportion of women choosing contraception after an abortion increased. In 2012, only 42% of all PAC clients in the DRC chose a contraceptive method; by 2017, the proportion had increased to 70%. Somalia had substantial increases in PAC demand, with the percentage of all PAC clients electing contraception increasing from 64% in 2012 to 82% in 2017. In Yemen, where the health system has been constrained due to severe conflict, the percentage of PAC clients choosing voluntary contraception rose from 17% in 2013 to 38% in 2017. Uptake and demand for PAC was mobilized through targeted community outreach in each context. Conclusion: These data demonstrate that providers can effectively shift away from D&C as treatment for PAC and that contraceptive uptake by PAC clients can increase substantially, even in settings where the use of contraception after abortion is often stigmatized.