Improving diagnosis and treatment in childhood epilepsies

ICNC2022 Symposia

This educational symposium has the objective to review the up to date aspects of diagnosis and treatment of childhood epilepsy. The symposium will focus on how to make an accurate diagnosis of epilepsy syndromes, including a broader discussion on developmental and epileptic encephalopathies. It will also cover the discussion of medical and surgical treatment and how to facilitate the access to surgical treatment in low resource settings.

Dr Elaine Wirrell
MAYO Clinic
The new ILAE definition of childhood epilepsy syndromes

An “Epilepsy Syndrome” has been defined as a characteristic cluster of clinical and EEG features, often supported by specific etiological findings. Syndromes often have age-dependent onset and are associated with a range of specific types of comorbidities. Identification of syndrome often assists with accurate prognostication for long-term outcome and may help with optimal therapeutic choice. An epilepsy syndrome can be defined in approximately one third of pediatric and adolescent onset epilepsy, and in over half of cases beginning prior to 3 years of age. The ILAE Nosology and Definitions Task Force has proposed classification and definitions of epilepsy syndromes that are consistent with the 2017 Epilepsy Classification terminology. Syndromes are divided into those with Focal-Onset Seizures, Generalized-Onset Seizures, Focal and Generalized-Onset Seizures and Developmental and Epileptic Encephalopathies. This talk will outline the organization of Epilepsy Syndromes in Neonates/Infants, Children and Adolescents, summarize key clinical and laboratory criteria for the syndromes and identify key updates in nomenclature and definitions.

Prof Ingrid Scheffer
University of Melbourne
Developmental and epileptic encephalopathy: definition and aetiologies

The developmental and epileptic encephalopathies are the most severe groups of epilepsies, typically beginning in infancy or childhood and accounting for about 10% of all epilepsies. An epileptic encephalopathy refers to where frequent epileptiform activity adversely impacts development. These disorders are usually associated with frequent seizures, multiple seizure types and developmental slowing or regression. These children usually have a vast array of comorbidities that affect their life and their family’s lives. These include learning difficulties and intellectual disability, gait, sleep, speech, and behavioural problems, together with a high mortality risk. There are many epilepsy syndromes that fall within the epileptic encephalopathies and also many patients who cannot be classified as having a specific epilepsy syndrome. We now know of more than 400 genes that cause these disorders, with many following de novo dominant inheritance, while others follow X-linked or recessive inheritance. Many different cellular processes have been implicated. Making a diagnosis early in a child’s life is important to ensure optimal treatment, recognition of comorbidities and reproductive counselling for families. Understanding the natural history of these disorders is even more critical with the tantalising and imminent promise of precision therapies.


Helen Cross
Advances in medical treatment of childhood epilepsy

With careful delineation of epilepsy syndromes, experience has highlighted medication most likely to be effective, and others that may lead to seizure exacerbation. Data on success of antiepileptic medications in children remain scarce; randomised controlled trials are challenging and have led to limited results. Most data are available for first line in infantile spasms, but there are few data for other presentations. This said, evaluating epilepsy syndromes as orphan diseases has led to the demonstration of effect of certain novel treatments such as cannabidiol and fenfluramine in Dravet and Lennox Gastaut syndromes. Increasingly we are appreciating the relevance of epileptic seizures as a symptom with many underlying causes. Magnetic resonance imaging has increased the detection of structural brain abnormality; in a proportion surgery may be an option as a cure and should be evaluated early in the natural history to optimise outcomes. This said, genetic evaluation has also really advanced our understanding in this group. Whole genome sequencing epilepsy gene panels give a yield of a positive results in 24% in children with onset under 3 rising to 49% in children with onset under the age of 6m. These results are giving as an improved understanding of the underlying pathophysiology in these conditions, moving us toward targeted treatments and the real possibility of improving outcomes. Most recently genetic therapy for some diseases has become a reality.


Dr Ana Carolina Coan
Is it possible to optimize epilepsy surgery in resource-limited settings?

For patients with pharmacoresistant epilepsies of structural etiology, the surgical treatment with removal of the epileptogenic zone is the best therapeutic option. Due to high morbidity and psychosocial consequences of pharmacoresistant seizures, the indication of surgical treatment should occur as early as possible. For the pediatric age group, the urgency of epilepsy surgery is even higher since the burden of pharmacoresistant seizures early in life will have a profound impact on the development. Besides the detailed clinical assessment, the preoperatory evaluation for patients with epilepsy usually involves multiple diagnostic procedures and a specialized multidisciplinary team. Scalp EEG, video-EEG and MRI are the minimal tools and often other neuroimaging techniques, such as ictal SPECT, PET and MEG, as well as invasive EEG evaluation, are required. The difficulties of epilepsy surgery in low resource settings start at the referral. The lack of knowledge of the vast range of epilepsy surgery indications in the pediatric group by the primary or secondary care physicians often prevent children to arrive at available specialized centers. Additionally, many regions do not have trained personnel or the minimum required technology for epilepsy surgery investigation. However, in the last decades many low resource regions of the world have succeeded in establishing an epilepsy surgery program.