Evaluation by a Vineland II Scale of Long-term Development of Children With Pyridoxine Dependent Epilepsy

University Hospital, Angers30 enrolled

Overview

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.

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Pyridoxine-Dependent Epilepsy

Interventions

VINELAND IIOTHER

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.

Eligibility

Sex: ALLMin age: 3 Years

Medical Language ↔ Plain English

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.

Locations (12)

CHU Angers

Angers, France

Centre Hospitalier Universitaire de Besançon

Besançon, France

CHRU Morvan

Brest, France

CHU d'Estaing

Outcomes

Primary Outcomes

Vineland II Adaptive Behaviour scales (VABS) total mean score and subscale mean scores

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

Time frame: Baseline

Secondary Outcomes

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

Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible

Time frame: Baseline

Evaluation of executive functions with the BRIEF scale

Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible. 87 questions. 15 minutes duration.

Time frame: Baseline

Clinical and para-clinical description of the population studied

Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible.

Time frame: Baseline

genotype phenotype correlation

study the genotype phenotype correlation in the light of patient long term neurocognitive development

Time frame: baseline

Data from ClinicalTrials.gov

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