Targeted Treatment in Childhood Epilepsy Syndromes

The mainstay of treatment of epilepsy has been antiepileptic drugs; however, despite the emergence of new agents, a consistent proportion remain drug-resistant. Newer AEDs show promise. However, as it becomes clear that the epilepsies are a group of diseases rather than a single disorder the prospect of targeted treatment in some may become a reality

Ketogenic diet therapy in infants with epilepsy

Approximately 25% of children with epilepsy are drug-resistant. Lack of seizure control in infants impacts developmental outcome and places a large burden on NHS services, but there are few data to guide optimal treatment in infants with drug-resistant epilepsy. Ketogenic diet therapy is an effective non-pharmacological treatment option for individuals with drug-resistant epilepsy and reports of its use in infants have increased over the last decade. This article gives an overview of use of ketogenic diet therapy in infants with epilepsy, including a history of dietary treatment, evidence for efficacy in infants, patient selection and clinical and dietetic management

Fenfluramine as antiseizure medication for epilepsy

Fenfluramine hydrochloride has classically been described as acting pharmacologically through a serotonergic mechanism. Therefore, it was initially used as an anorectic drug, given that impaired serotonin homeostasis may be associated with increased food intake. Although positive results were documented, cardiovascular concerns resulted in its temporary withdrawal. Nevertheless, a novel role in patients with epilepsy was later suggested by isolated clinical observations. The wide application of genetic testing allowed the classification (predominantly as Dravet syndrom) of patients in whom benefit was seen, while with the development of zebrafish models, its antiepileptic properties were confirmed at a molecular level. Data from randomized clinical trials have shown a beneficial effect of fenfluramine, as an adjunct therapy, on seizure control for children with Dravet syndrome, though there is still uncertainty about the impact on neurodevelopment in these patients. No signs of heart valve disease have been documented to date. Long-term and appropriately designed clinical studies will verify whether fenfluramine is a therapeutic agent of high importance, living up to the promise shown so far

Management of Dravet syndrome and emerging therapy options

Introduction: Dravet syndrome is an early onset epileptic and genetic encephalopathy. Although a well-recognised electroclinical picture is key to diagnosis, a mutation in the SCN1A gene is found in excess of 80%. In general prognosis is poor overall for seizure control and neurodevelopment. With careful phenotyping of the condition and review of treatment response we have become aware of the antiepileptic drugs that are most likely to help, but more importantly drugs that may lead to deterioration and consequently to avoid. Despite this, a significant number of children continue to have seizures and there is little evidence to suggest that we have substantially changed the prognosis in these patients. Areas covered: This review explores current views on the diagnosis and treatment of Dravet syndrome. Consideration is given to the underlying genetics, as well as agents proving to be useful in the management of seizures, including those currently under trial. This has been prepared utilising a review of current literature, as well as expert opinion. Expert opinion: Considerable experience in the field has led to a knowledge of optimised treatment in this condition. This involves both acute and maintenance treatment. Despite this, there has been little impact on overall outcomes. Newer treatments now provide promise with regard to seizure control; whether this will have an impact on overall outcome remains to be seen

Is wearing a face mask safe for people with epilepsy?

Since December 2019, the world has been experiencing a catastrophic pandemic of coronavirus disease (COVID-19) caused by SARS-CoV2. This virus primarily targets the human respiratory system. Available information suggests that people with epilepsy (PWE) are not at higher risk of being infected by the virus, nor of more severe COVID-19 manifestations, as a result of the epilepsy alone. However, COVID-19 is a serious disease that currently has no effective treatment or vaccine. A face mask is probably effective in preventing the spread of a respiratory pathogen, at least to some extent. So, should we recommend wearing a face mask to all during a pandemic of respiratory infectious disease (e.g., COVID-19) without any precautions or exemptions? While concrete evidence is lacking, if we consider that wearing a face mask may simulate hyperventilation, at least to some extent, we would probably avoid recommending this practice indiscriminately to all PWE. On the other hand, in the absence of any proven treatment or vaccine to combat COVID-19, prevention is the best available strategy and it is probably not reasonable to suggest avoid wearing face masks in PWE under any circumstances. Logically, PWE do not need to wear a face mask most of the time, as long as there is no close contact with others, especially during intense physical activities such as exercise. To the contrary, it is probably more advantageous to wear a face mask in crowded locations, with intermittent breaks in safe locations, away from others

The perceived impact of COVID-19 and associated restrictions on young people with epilepsy in the UK: Young people and caregiver survey.

PURPOSE: To garner the views of young people with epilepsy and caregivers regarding the impact of COVID-19 and subsequent restrictions in the UK. MEHODS: An online survey was used to explore the views of young people with epilepsy (n = 71) and caregivers (n = 130) in June 2020. It included questions on the impact of the pandemic and associated restrictions on the child's epilepsy and on child and parental wellbeing. RESULTS: One in three young people and 29 % of caregivers reported that the young person's seizures had increased during the pandemic (only 10 % of young people and 8% of caregivers reported a decrease). Half of young people reported that they were more reluctant to go to hospital. Thirty-one percent of young people and 20 % of parents reported difficulties getting epilepsy medication whilst a significant minority of young people (18 %) and caregivers (25 %) reported that the young person had investigations/assessments cancelled by their hospital. The majority of young people reported their sleep (72 %), mood (64 %) and levels of physical activity (53 %) had deteriorated. Caregivers experienced increases in stress (55 %) and anxiety (52 %). Epilepsy nurses were seen as the most helpful support CONCLUSIONS: Results indicate that the pandemic and associated restrictions have had a negative impact on young people with epilepsy. Perceived increases in seizures, reluctance to go to hospital and cancelled investigations are likely to impact on epilepsy management. The wider psychosocial impact is also likely to be significant with increases in child and caregiver mental health problems in an already vulnerable group