Developmental and Epileptic Encephalopathy
Conditions
Brief summary
Developmental and Epileptic Encephalopathy (DEE) are a heterogeneous group of neurodevelopmental disorders linked to both epilepsy and its underlying etiology, independently of epileptiform activity. The creation of a database with retrospective follow-up of a large number of patients on a national scale will enable better knowledge of specific biomarkers, and thus a better classification and understanding of the natural evolution of DEE according to their etiology. This will enable better, more personalized therapeutic management of patients, depending on etiology and the presence or absence of these biomarkers. The investigators will also be able to draw up management recommendations, which are currently non-existent.
Interventions
None listed
Sponsors
Imagine Institute
Study design
Observational model
CASE_CONTROL
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Diagnosis of Developmental and Epileptic Encephalopathy * Registered with or benefiting from a social security scheme.
Exclusion criteria
* Opposition of the patient or his/her parents to the re-use of data in the context of this study * Person subject to a safeguard of justice measure
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identification of diagnostic and early predictive biomarkers of a neurodevelopmental trajectory with epileptic and developmental encephalopathies | Data 2002-2026 | This composite outcome includes multiple diagnostic domains (Clinical, biological, radiological, genetic and electroencephalographic variables) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Identification of patient subgroups presenting the identified biomarkers | Data 2002-2026 | To identify patient subgroups, correlation analyses will be carried out to highlight any common clinical, biological, genetic, radiological and electroencephalographic findings. |
| Assessment of patients' quality of life | Data 2002-2026 | The SF-12 questionnaire is used to assess quality of life. |
| Assessment of age-related adaptive behavior | Data 2002-2026 | To assess the age of adaptive behavior, the Vineland II scale is the reference test. |
| Assessment of behavioral disorders | Data 2002-2026 | The CBCL (Child Behaviour Checklist) questionnaire is the reference test for assessing behavioural problems. |
| Assessment of autism spectrum disorders | Data 2002-2026 | The Social Communication Questionnaire (SCQ) will be used to assess autism spectrum disorders. |
Countries
France
Contacts
Primary ContactRima Nabbout, Pr
Outcome results
None listed