Pyridoxine-Dependent Epilepsy
Conditions
Brief summary
This study aims to evaluate with the VINELAND II scale the long-term neurocognitive development of children above age 3 years with pyridoxine dependent epilepsy related to antiquitine deficiency.
Detailed description
Pyridoxine dependent epilepsy related to antiquitine deficiency is a rare and severe genetic epilepsy that usually starts within the first month of life. The treatment is based on high dose of Vitamin B6 (Pyridoxine) which is usually highly effective to control the seizures. However, most patients show impaired neurodevelopment. Ten years ago, international recommendations have changed and a lysine restricted diet was added as an adjunct therapy with the hope to improve neurodevelopment. Very few studies have evaluated the cognitive development of these patients in a standardized way, and these studies evaluate very few patients. It seems therefore essential to study in a standardized way the neurocognitive development of these patients in order to evaluate the impact of the care. The VINELAND adaptative behaviour scale II has been chosen because it can evaluate a patient whatever the age or the intellectual abilities through a semi-structured questionnaire completed with the parents, and gives a wide view of the neurocognitive development and everyday life autonomy of the patients.
Interventions
OTHERVINELAND II
Standardised questionnaire filled by the investigator during an interview with the parents or with the patient himself if capable of it. Duration 1 hour to 1 hour and a half.
Sponsors
University Hospital, Angers
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
3 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Age above 3 years old * Pyridoxine dependent epilepsy genetic diagnosis (mutation in ALDH7A1 gene) * No objection of the patient or his legal representatives.
Exclusion criteria
* Poor understanding of French language.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Vineland II Adaptive Behaviour scales (VABS) total mean score and subscale mean scores | Baseline | Standardized questionnaire filled by the investigator during an interview with the parents or the patient himself if possible. 5 domains. Maximum score 160, minimum score 20, mean score 100, standard deviation 15 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Determine if the treatments actually used for patients with pyridoxine dependent epilepsy have an impact on their long-term neurocognitive development, especially the lysine restricted diet | Baseline | Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible |
| Evaluation of executive functions with the BRIEF scale | Baseline | Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible. 87 questions. 15 minutes duration. |
| Clinical and para-clinical description of the population studied | Baseline | Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible. |
| genotype phenotype correlation | baseline | study the genotype phenotype correlation in the light of patient long term neurocognitive development |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORPatrick VAN BOGAERT, PhD - MD
University Hospital, Angers
Outcome results
None listed