The psychological impact on parents of children with pyridoxine-dependent epilepsy

Introduction Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease usually associated with neonatal seizures that are sensitive to pyridoxine (vitamin B6). This can have significant impact on family functioning, psychological distress in parents. Post-traumatic stress disorder (PTSD), depression, and anxiety the most common psychiatric outcomes parents of children PDE. Objectives To investigate prevalence symptoms anxiety, Methods The study consisted survey accompanying their diagnosed diagnosis was already confirmed by objectifying homozygous or compound heterozygous mutation ALDH7A1 gene all siblings carrier Impact Event Scale-Revised (IES-R) used assess parental post-traumatic stress, Hospital Anxiety Depression Scale screen for depression anxiety. Results Our included eight unrelated families one infant presenting PDE disease. average age 4.18 years (8 months 12 years) equal representation both sexes. Half surveyed had depressive about two thirds reported anxious symptomatology. These troubles mainly related uncertain prognosis disease, even vitamin B6 supplementation, high risk recurrence siblings, which led some not other children. A higher scores who claimed difficulties providing necessary supplements affected regular basis. PTSD three parents: dealing specifically relation unpredictability unavailability medical care child, taxed financial resources made it difficult them perform roles effectively. Besides, being an transmission notion responsibility/guilt either parent, equally involved child. Conclusions proportion children’s pyridoxine-dependent suffering from stress. deeper understanding clinical expressions these could help practitioners develop prevention intervention strategies Disclosure Interest None Declared