Characterization of Patients with Childhood-onset Developmental and Epileptic Encephalopathy Followed in an Adult Epilepsy Unit
Abstract number :
2.204
Submission category :
4. Clinical Epilepsy / 4A. Classification and Syndromes
Year :
2024
Submission ID :
884
Source :
www.aesnet.org
Presentation date :
12/8/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Laura Abraira, MD PhD – Epilepsy Unit, Department of Neurology, Vall d’Hebron Hospital Universitari, Barcelona; Universitat Autonoma de Barcelona, Bellaterra, Spain
Paula Arranz, MD – Vall d'Hebron University Hospital, Barcelona, Spain
Manuel Quintana, PhD – Vall d'Hebron University Hospital
Daniel Campos-Fernandez, MD – Vall d'Hebron University Hospital
Samuel López-Maza, MD – Vall d'Hebron University Hospital
Elena Fonseca, MD, PhD – Vall d'Hebron University Hospital
Estevo Santamarina, MD, PhD – Vall d'Hebron University Hospital
Javier Salas-Puig, MD, PhD – Vall d'Hebron University Hospital, Barcelona, Spain
Miquel Raspall, MD, PhD – Vall d'Hebron University Hospital, Barcelona, Spain
Julia Sala, MD – Vall d'Hebron University Hospital, Barcelona, Spain
Alfons Macaya, MD, PhD – Vall d'Hebron University Hospital, Barcelona, Spain
Amaia Lasa, MD – Vall d'Hebron University Hospital, Barcelona, Spain
Eduardo Tizzano, MD – Vall d'Hebron University Hospital, Barcelona, Spain
Manuel Toledo, MD, PhD – Vall d'Hebron University Hospital
Rationale: Identifying the underlying etiologies and recognizing the electroclinical syndromes of people with epilepsy and neurodevelopmental disorders is essential. We aimed to characterize patients with developmental and epileptic encephalopathies (DEE) with childhood-onset followed in an adult Epilepsy Unit.
Methods: This is a retrospective study from a longitudinal register of adult patients with DEE with suspected genetic etiology attended in an Epilepsy Unit from a tertiary hospital during 2023. We collected clinical and demographic features including epilepsy characteristics, comorbidities and complementary tests (EEG, MRI and genetic testing).
Results: 105 patients were included; mean age was 29.2 (±11.1) years and 58.1% (n=61) were women. 47.6% (n=50) were drug-resistant and multifocal epilepsy was the most frequent type (41.2%, n=21). The most frequent comorbidities were intellectual disability (78%, n=82), behavioural disorder (47.6%, n=49) and autism spectrum traits (18.4%, n=19).
The most prescribed antiseizure medications (ASM) were valproic acid (39%, n=41) and clobazam (25.7%, n=27). 55.2% (n=58) were seizure-free at last follow-up. Drug-resistance was associated with the presence of tonic seizures (70.6% vs 43.2%, p=0.038), focal and diffuse EEG slowing (60.9% vs 25.7%, p=0.001), combined generalized and focal epilepsy (p=0.019), and behavioural disorder (59.2% vs 37%, p=0.025).
EEG was performed in 95.2% (n=100), showing interictal epileptiform discharges in 49.5% (n=49) and diffuse slowing in 43.4% (n=43). 79% (n=83) underwent brain MRI, which showed abnormalities in 68.7% (n=57).
Genetic testing was conducted in 85.7% (n=90), with pathological findings in 88.8% (n=79). Chromosomal Microarray Analysis was performed in 25 patients (pathological: 48%, n=12), Whole Exome Sequencing (WES) in 25 patients (pathological: 76%, n=19). Of 12 patients with normal Chromosomal Microarray Analysis test, WES was performed in 11 and revealed pathological variants in 7 patients (64%). Most frequent pathological variants were located in SCN1A (n=6), TSC2 (n=6), MECP2 (n=4) and SCL2A1 (n=3) genes.
Female sex (95.8% vs 80.5%, p=0.022) and focal seizures (94.4% vs 80%, p=0.045) were associated with positive results in genetic tests. No association was observed with drug-resistance, intellectual disability, behavioural disorder or autism spectrum traits.
Conclusions: Genetic testing is beneficial in well-selected DEE patients and WES is more useful to detect abnormalities than Chromosomal Array Analysis. In addition to drug-resistance, other comorbidities such as intellectual disability may have a greater impact on the patient's quality of life.
Funding: NA
Clinical Epilepsy