Evaluation by a Vineland II Scale of Long-term Development of Children With Pyridoxine Dependent Epilepsy (EPIDEV-B6)

University Hospital, Angers

Status: Completed

Conditions: Pyridoxine-Dependent Epilepsy

Treatments: Other: VINELAND II

Study type: Observational

Funder types: Other

Identifiers

NCT06054347

49RC23_0181

Details and patient eligibility

About

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.

Full 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.

Enrollment: 30 patients

Sex: All

Ages: 3+ years old

Volunteers: No Healthy Volunteers

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.