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Edited by
Rebecca Leslie, Royal United Hospitals NHS Foundation Trust, Bath,Emily Johnson, Worcester Acute Hospitals NHS Trust, Worcester,Alex Goodwin, Royal United Hospitals NHS Foundation Trust, Bath,Samuel Nava, Severn Deanery, Bristol
Chapter 2.7 explores anticonvulsant drugs. This includes a segment on benzodiazepines commonly used for sedation and anaesthesia, their mechanism of action, uses, side effects and actions in overdose. We then discuss specific antiepileptic agents in detail and the management of status epilepticus.
It may be difficult or impossible to obtain a valid history in the emergency. Additional time in the observation unit (OU) may be needed to determine the etiology of the event, whether a seizure or not.
In the OU, there is time for obtain such information, do a diagnostic workup to determine the etiology of the event, whether a seizure or not and if a seizure, determine the precipitating factors and treat them, repeat vital signs and neurologic checks, observe for any recurrent seizures or monitoring if syncope and dysrhythmias are a consideration. If this was a seizure, evaluation can be done, which may involve testing. In a patient with a known seizure disorder, anticonvulsants may be administered, if needed. Precipitating factors, such as infections or electrolyte abnormalities, known to trigger seizures can be treated in the OU. Dizziness has an extensive differntial
The prevalence of psychiatric disorders in people with epilepsy is as high as 43% and, among them, psychoses represent a severe comorbidity.
Aims
This is a narrative review discussing the interplay between epilepsy and psychosis and identifying challenges in diagnosing and managing psychotic symptoms in epilepsy, focusing on the past 10 years.
Method
Articles published between June 2014 and December 2024 were identified through searches in PubMed using the search terms ‘psychosis’, ’seizure, epilepsy and convulsion’, ‘epile*’, ’seizure*’ and ‘convuls*’.
Results
The association between epilepsy and psychosis was shown to be bidirectional, with people with psychosis being at increased risk of epilepsy. In epilepsy, psychotic symptoms may occur in three clinical scenarios, with clinical presentation and management varying in relationship to these: seizure-related (peri-ictal), treatment-related or independent of the former.
Conclusions
There are no guidelines for the management of psychotic symptoms in epilepsy, but it is possible to apply policies for the treatment of psychoses, taking into account the peculiarities and needs of people with epilepsy.
This chapter introduces the transformative power of music through the inspiring story of Michael, a young man with epilepsy and mutism who experienced remarkable progress through music therapy. It highlights the growing body of research on music’s therapeutic effects, while acknowledging the challenges of studying music’s impact in a rigorous scientific manner. The author emphasizes the importance of integrating music therapy into healthcare, advocating for policy changes to increase access for those in need. This chapter sets the stage for exploring the multifaceted ways music can enhance our health and well-being, drawing on insights from neuroscience, psychology, medicine, and musicology. It invites readers on a journey to discover the extraordinary potential of music to heal, inspire, and transform lives.
Epilepsy is a relatively common condition that affects approximately 4–5 per 1000 individuals in Ontario, Canada. While genetic testing is now prevalent in diagnostic and therapeutic care plans, optimal test selection and interpretation of results in a patient-specific context can be inconsistent and provider dependent.
Methods:
The first of its kind, the Ontario Epilepsy Genetic Testing Program (OEGTP) was launched in 2020 to develop clinical testing criteria, curate gene content, standardize the technical testing criteria through a centralized testing laboratory, assess diagnostic yield and clinical utility and increase genetics literacy among providers.
Results:
Here we present the results of the first two years of the program, demonstrating the overall 20.8% diagnostic yield including pathogenic sequence and copy number variation detected by next-generation sequencing panels. Routine follow-up testing of family members enabled the resolution of ambiguous findings. Post-test outcomes were collected as reported by the ordering clinicians, highlighting the clinical benefits of genetic testing.
Conclusion:
This programmatic approach to genetic testing in epilepsy by OEGTP, together with engagement of clinical and laboratory stakeholders, provided a unique opportunity to gather insight into province-wide implementation of a genetic testing program.
The objective of this study was to investigate the impact of common mental disorder (CMD; depression/anxiety) symptoms and risky substance use in people with epilepsy in Ethiopia (four districts) on quality of life (QoL) and functioning over 6 months. A prospective cohort study was carried out. Multivariable linear regression followed by structural equation modelling (SEM) was employed. In the multivariable regression model, neither CMD symptoms (β coef. = −0.37, 95% confidence interval [CI] −1.30, +0.55) nor moderate to high risk of alcohol use (β coef. = −0.70, 95% CI −9.20, +7.81) were significantly associated with a change in QoL. In SEM, the summative effect of CMD on QoL was significant (B = −0.27, 95% CI −0.48, −0.056). Change in functional disability was not significantly associated with common mental disorder (CMD) symptoms (β coef. = −0.03, 95% CI −0.48, +0.54) or with moderate to high risk of alcohol use (β coef. = −1.31, 95% CI −5.89, 3.26). In the SEM model, functional disability was predicted by both CMD symptoms (B = 0.24, 95% CI 0.06, 0.41) and seizure frequency (B = 0.67, 95% CI 0.46, 0.87). In this rural Ethiopian setting, co-morbid CMD symptoms and seizure frequency independently predicted functional disability in people with epilepsy.
Edited by
James Ip, Great Ormond Street Hospital for Children, London,Grant Stuart, Great Ormond Street Hospital for Children, London,Isabeau Walker, Great Ormond Street Hospital for Children, London,Ian James, Great Ormond Street Hospital for Children, London
Anaesthetic preoperative assessment is an essential part of the child’s admission. Standards of care dictate that this needs to be done in advance of the day of admission to ensure the patient is medically optimised and prepared for their anaesthetic. A detailed discussion about the side effects and risk of anaesthesia is essential, and families should be given written or electronic information as part of this process. All anaesthetists who are involved in the care of children should have a sound knowledge of common medical conditions in childhood. They should understand how these conditions can be affected by anaesthesia and surgery and what preoperative investigations and planning are required to deliver a safe anaesthetic. Those medical specialties that are regularly involved in the care of the child should be contacted to help guide the perioperative management and ensure a collaborative approach to the care of the child.
Movement disorders arise from dysfunctional physiology within the motor and movement systems of the nervous system, and can involve multiple anatomic locations. A myriad of electrophysiologic manifestations can be detected in electromyography (EMG), electroencephalography (EEG), and other methods. Technical factors must be carefully considered and technical quality should be monitored throughout. Surface EMG provides the basis for the electrophysiologic examination of movement disorders. EEG is important for establishing cortical genesis as well as consciousness state determination during the movement disorder. Tremors of different etiologies may have different frequencies and activation characteristics that are best discovered on analysis of surface EMG characteristics. Also, classification of myoclonus physiology needs electrophysiologic testing. Proper myoclonus classification forms the best approach to symptomatic treatment strategy. Results from this testing provide important supplemental information, which can be used for a more exact diagnosis that leads to treatment.
Early warning for epilepsy patients is crucial for their safety and well being, in particular, to prevent or minimize the severity of seizures. Through the patients’ electroencephalography (EEG) data, we propose a meta learning framework to improve the prediction of early ictal signals. The proposed bilevel optimization framework can help automatically label noisy data at the early ictal stage, as well as optimize the training accuracy of the backbone model. To validate our approach, we conduct a series of experiments to predict seizure onset in various long-term windows, with long short-term memory (LSTM) and ResNet implemented as the baseline models. Our study demonstrates that not only is the ictal prediction accuracy obtained by meta learning significantly improved, but also the resulting model captures some intrinsic patterns of the noisy data that a single backbone model could not learn. As a result, the predicted probability generated by the meta network serves as a highly effective early warning indicator.
Most women with epilepsy (WWE) will experience stable seizure control during pregnancy. Adverse fetal outcomes with epilepsy include spontaneous abortion, preterm birth, fetal growth restriction, major congenital malformation (MCM), hypertensive disorders of pregnancy, postpartum hemorrhage, peripartum depression, and—rarely—maternal death. Studies reporting these increased risks may be biased by differences in preexisting medical conditions, other patient characteristics, and anti-seizure medication (ASM) use and type. Poor seizure control preceding pregnancy, unplanned pregnancy, and polytherapy are associated with higher risks. Antenatal care should be coordinated by an experienced multidisciplinary team. Monotherapy with an appropriate ASM at the lowest effective dose is the goal, and drug levels should be monitored. Second trimester fetal anatomical sonography is the best screening modality for neural tube defects and other MCMs. Serial third trimester fetal growth ultrasounds are recommended. WWE are likely to have an uncomplicated labour and delivery. Epilepsy is not an indication for induction of labour or caesarean delivery. The risk of intrapartum seizures is 2−3%, and intractable seizures necessitating urgent delivery are rare. Attention is needed to avoid dehydration, missed ASM doses, sleep deprivation, and pain during labour and postpartum. WWE should be screened and counselled regarding their heightened risk of peripartum depression.
Sleep and epilepsy have bidirectional relationships, and various endocrine interactions. Besides the commonly observed increase in seizure frequency in association with sleep loss or with sleep disorders, such as sleep apnea, seizures themselves may lead to sleep fragmentation. Furthermore, nocturnal seizures may be associated with more severe and longer lasting respiratory consequences, as well as higher risk of sudden death. It is common for sleep to change during pregnancy in relation to endocrine changes and these changes may in turn affect seizure frequency. Overall, estrogens may have excitatory effects and may increase the consolidation of wakefulness and decrease REM sleep duration. Progesterone tends to have a sedative effect and the decrease in level may lead to more complaints of insomnia pre-menstrual and after menopause. Common sleep disorders are discussed. Obstructive sleep apnea becomes much more common after menopause, and sometimes may be seen in the third trimester of pregnancy as a result of weight gain. Restless legs syndrome is more common in pregnancy. Overall, insomnia is more common in women. Consideration should be given to comorbid primary sleep disorders whenever symptoms of insomnia or hypersomnolence are reported by patients with epilepsy.
Enzyme-inducing antiepileptic drugs (EI-ASMs) such as phenytoin, carbamazepine, oxcarbazepine, and phenobarbital may decrease contraceptive efficacy. When considering contraception for women with epilepsy (WWE), the intrauterine device (IUD) is a first line choice. It is important to keep in mind that hormonal contraception with estrogenic components induces the metabolism of lamotriginePreconception counseling should be started early and revisited frequently for WWE of childbearing age. Pre-partum optimization of ASMs ideally should be done 9−12 months before a planned pregnancy. The majority of WWE are likely to have a safe pregnancy and a healthy newborn.
Nearly 25% of people with intellectual disability (PwID) have epilepsy compared to 1% of the UK general population. PwID are commonly excluded from research, eventually affecting their care. Understanding seizures in PwID is particularly challenging because of reliance on subjective external observation and poor objective validation. Remote electroencephalography (EEG) monitoring could capture objective data, but particular challenges and implementation strategies for this population need to be understood.
Aim
This co-production aimed to explore the accessibility and potential impact of a remote, long-term EEG tool (UnEEG 24/7 SubQ) for PwID and epilepsy.
Method
We conducted six, 2-hour long workshops; three with people with mild intellectual disability and three with families/carers of people with moderate–profound intellectual disability. Brief presentations, easy read information and model demonstrations were used to explain the problem and device. A semi-structured guide developed by a communication specialist and art-based techniques facilitated discussion with PwID. For family/carers, active listening was employed. All conversations were recorded and transcribed. Artificial intelligence-based coding and thematic analysis (ATLAS.ti and ChatGPT) were synthesised with manual theming to generate insights.
Results
Co-production included four PwID, five family members and seven care professionals. Three main themes were identified: (1) perceived benefits for improving seizure understanding, informing care and reducing family and carer responsibility to accurately identify seizures; (2) the device was feasible for some PwID but not all; and (3) appropriate person-centred communication is essential for all stakeholders to reduce concerns.
Conclusions
The workshops identified key benefits and implementing barriers to SubQ in PwID.
SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual disability and movement disorders. SCN2A is a high confidence risk gene for autism spectrum disorder and a commonly discovered cause of neonatal onset epilepsy. This remarkable clinical heterogeneity is mirrored by extensive allelic heterogeneity and complex genotype-phenotype relationships partially explained by divergent functional consequences of pathogenic variants. Emerging therapeutic strategies targeted to specific patterns of NaV1.2 dysfunction offer hope to improving the lives of individuals affected by SCN2A-related disorders. This Element provides a review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these genetic conditions authored by leading experts in the field and accompanied by perspectives shared by affected families. This title is also available as Open Access on Cambridge Core.