Angel Aledo-Serrano1, Irene García-Morales2, Rafael Toledano3, Adolfo Jiménez-Huete4, Beatriz Parejo5, Carla Anciones4, Ana Mingorance6, Primitivo Ramos7, Antonio Gil-Nagel4. 1. Epilepsy Unit, Neurology Department, Hospital Ruber Internacional, Madrid, Spain. Electronic address: aaledo@ruberinternacional.es. 2. Epilepsy Unit, Neurology Department, Hospital Ruber Internacional, Madrid, Spain; Epilepsy Unit, Neurology Department, Hospital Clínico San Carlos, Madrid, Spain. 3. Epilepsy Unit, Neurology Department, Hospital Ruber Internacional, Madrid, Spain; Epilepsy Unit, Neurology Department, Hospital Ramón y Cajal, Madrid, Spain. 4. Epilepsy Unit, Neurology Department, Hospital Ruber Internacional, Madrid, Spain. 5. Epilepsy Unit, Neurology Department, Hospital Clínico San Carlos, Madrid, Spain. 6. LouLou Foundation, London, United Kingdom. 7. Social Assistance Agency, Government of Madrid, Spain.
Abstract
OBJECTIVE: This study aimed to evaluate the access to advanced diagnostic tests in patients with epilepsy and intellectual disability, with special focus on genetics. METHODS: Patients with epilepsy and intellectual disability evaluated between 2016 and 2018 at the Epilepsy Unit of two hospitals in Madrid, Spain were included. The main inclusion criterion was an undetermined etiological diagnosis after clinical assessment, neuroimaging, and electroencephalogram (EEG). RESULTS: Two hundred and five patients with epilepsy and intellectual disability were evaluated, with 124 fulfilling the inclusion criteria (mean age: 33.9 years). Regarding the etiological workup, advanced neuroimaging, prolonged video-EEG, and any type of genetic test had been performed in 58%, 41%, and 40%, respectively. An etiological diagnosis was reached in 18.5%. The workup was considered incomplete in 67%. Variables that showed the strongest association with an incomplete diagnostic workup in the multivariate analysis were current age and seizure freedom. CONCLUSIONS: Despite the multiple implications of modern diagnostic techniques, especially genetic testing, there is a large proportion of patients with epilepsy and intellectual disability who do not have access to them. Older age and seizure freedom seem to be associated with the highest diagnostic gap.
OBJECTIVE: This study aimed to evaluate the access to advanced diagnostic tests in patients with epilepsy and intellectual disability, with special focus on genetics. METHODS:Patients with epilepsy and intellectual disability evaluated between 2016 and 2018 at the Epilepsy Unit of two hospitals in Madrid, Spain were included. The main inclusion criterion was an undetermined etiological diagnosis after clinical assessment, neuroimaging, and electroencephalogram (EEG). RESULTS: Two hundred and five patients with epilepsy and intellectual disability were evaluated, with 124 fulfilling the inclusion criteria (mean age: 33.9 years). Regarding the etiological workup, advanced neuroimaging, prolonged video-EEG, and any type of genetic test had been performed in 58%, 41%, and 40%, respectively. An etiological diagnosis was reached in 18.5%. The workup was considered incomplete in 67%. Variables that showed the strongest association with an incomplete diagnostic workup in the multivariate analysis were current age and seizure freedom. CONCLUSIONS: Despite the multiple implications of modern diagnostic techniques, especially genetic testing, there is a large proportion of patients with epilepsy and intellectual disability who do not have access to them. Older age and seizure freedom seem to be associated with the highest diagnostic gap.
Authors: Ángel Aledo-Serrano; Ana Mingorance; Vicente Villanueva; Juan José García-Peñas; Antonio Gil-Nagel; Susana Boronat; JoséÁngel Aibar; Silvia Cámara; María José Yániz; Luis Miguel Aras; Bárbara Blanco; Rocío Sánchez-Carpintero Journal: Front Neurol Date: 2022-09-01 Impact factor: 4.086
Authors: Ángel Aledo-Serrano; Borja Cabal-Paz; Elena Gardella; Pablo Gómez-Porro; Otilia Martínez-Múgica; Alvaro Beltrán-Corbellini; Rafael Toledano; Irene García-Morales; Antonio Gil-Nagel Journal: Epilepsia Open Date: 2022-07-20
Authors: David Lewis-Smith; Shiva Ganesan; Peter D Galer; Katherine L Helbig; Sarah E McKeown; Margaret O'Brien; Pouya Khankhanian; Michael C Kaufman; Alexander K Gonzalez; Alex S Felmeister; Roland Krause; Colin A Ellis; Ingo Helbig Journal: Eur J Hum Genet Date: 2021-05-24 Impact factor: 4.246
Authors: Luciana Musante; Paola Costa; Caterina Zanus; Flavio Faletra; Flora M Murru; Anna M Bianco; Martina La Bianca; Giulia Ragusa; Emmanouil Athanasakis; Adamo P d'Adamo; Marco Carrozzi; Paolo Gasparini Journal: Genes (Basel) Date: 2022-03-12 Impact factor: 4.096