Italian report on RARE epilepsies (i‐RARE): A consensus on multidisciplinarity DOI Creative Commons
Antonella Riva, Antonietta Coppola, Francesca Bisulli

et al.

Epilepsia Open, Journal Year: 2024, Volume and Issue: 9(5), P. 1857 - 1867

Published: Aug. 23, 2024

Abstract Objective Rare and complex epilepsies encompass a diverse range of disorders characterized by seizures. We aimed to establish consensus on key issues related these conditions through collaboration among experienced neurologists, neuropediatricians, patient advocacy representatives. Methods Employing modified Delphi method, scientific board comprising 20 physicians 4 representatives synthesized existing literature with their expertise formulate statements contentious topics. A final 32‐member expert panel, representing regions Italy, validated two‐round voting process, defined as an average score ≥7. Results Sixteen reached consensus, emphasizing the necessity for epidemiological studies ascertain true prevalence rare epilepsies. Etiology emerged crucial factor influencing therapeutic strategies outcome prediction, particular concern regarding prolonged tonic–clonic The importance early implementation specific drugs non‐pharmacological interventions in treatment algorithm developmental epileptic encephalopathies (DEEs) was underscored. Multidisciplinary care involving experts skills deemed essential, non‐seizure outcomes adolescence adulthood. Significance This national underscores imperative personalized, comprehensive, multidisciplinary management epilepsies/DEEs. It advocates increased research, particularly epidemiology approaches, inform clinical decision‐making healthcare policies, ultimately enhancing patients' outcomes. Plain Language Summary method is broadly used evaluate debated In this work, we sought integrated social epilepsy management. Both high‐level centers caregivers were directly involved.

Language: Английский

Ganaxolone: A Review in Epileptic Seizures Associated with Cyclin-Dependent Kinase-Like 5 Deficiency Disorder DOI

Sheridan M. Hoy

Pediatric Drugs, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 10, 2025

Language: Английский

Citations

1
Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey DOI Creative Commons
Sam Amin, Rikke S. Møller, Ángel Aledo‐Serrano

et al.

Epilepsia Open, Journal Year: 2024, Volume and Issue: 9(3), P. 832 - 849

Published: March 7, 2024

Abstract Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The characterized intractable early‐onset seizures, severe neurodevelopmental delay, hypotonia, motor disabilities, cerebral (cortical) visual impairment microcephaly. With no disease‐modifying therapies available for CDD, treatment symptomatic with an initial focus on seizure control. Another unmet need management of people CDD lack evidence to aid standardized care guideline development. To address this gap, experts representatives from patient advocacy groups Denmark, Finland, France, Germany, Italy, Poland, Spain, United Kingdom convened form Expert Working Group. aim was provide expert opinion consensus how ensure quality routine clinical practice within European setting, including settings limited experience or resources multidisciplinary other encephalopathies. By means one‐to‐one interviews around current landscape insights Group were collated developed into Europe‐specific journey individuals which later validated group. Further discussions followed gain opinions challenges potential solutions achieving setting. panel recognized benefit early genetic testing, holistic personalized approach control (taking consideration various factors such as concomitant medications comorbidities), age‐ comorbidity‐dependent optimizing outcomes life. However, their experiences also highlighted much disparity approaches across different countries. Development recommendations required align realistic diagnostic criteria, goals, that can be adapted settings. Plain language summary rare condition mutation broad range symptoms apparent childhood, seizures do not respond medication delays Due guidance managing international advocates discussed best practices Europe. agreed access disciplines are beneficial. guidelines would valuable.

Language: Английский

Citations

3
Italian report on RARE epilepsies (i‐RARE): A consensus on multidisciplinarity DOI Creative Commons
Antonella Riva, Antonietta Coppola, Francesca Bisulli

et al.

Epilepsia Open, Journal Year: 2024, Volume and Issue: 9(5), P. 1857 - 1867

Published: Aug. 23, 2024

Abstract Objective Rare and complex epilepsies encompass a diverse range of disorders characterized by seizures. We aimed to establish consensus on key issues related these conditions through collaboration among experienced neurologists, neuropediatricians, patient advocacy representatives. Methods Employing modified Delphi method, scientific board comprising 20 physicians 4 representatives synthesized existing literature with their expertise formulate statements contentious topics. A final 32‐member expert panel, representing regions Italy, validated two‐round voting process, defined as an average score ≥7. Results Sixteen reached consensus, emphasizing the necessity for epidemiological studies ascertain true prevalence rare epilepsies. Etiology emerged crucial factor influencing therapeutic strategies outcome prediction, particular concern regarding prolonged tonic–clonic The importance early implementation specific drugs non‐pharmacological interventions in treatment algorithm developmental epileptic encephalopathies (DEEs) was underscored. Multidisciplinary care involving experts skills deemed essential, non‐seizure outcomes adolescence adulthood. Significance This national underscores imperative personalized, comprehensive, multidisciplinary management epilepsies/DEEs. It advocates increased research, particularly epidemiology approaches, inform clinical decision‐making healthcare policies, ultimately enhancing patients' outcomes. Plain Language Summary method is broadly used evaluate debated In this work, we sought integrated social epilepsy management. Both high‐level centers caregivers were directly involved.

Language: Английский

Citations

1