Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study

BackgroundPyridoxine monotherapy in PDE-ALDH7A1 often results adequate seizure control, but neurodevelopmental outcome varies. Detailed long-term neurological is unknown. Here we present the cognitive and features of Dutch cohort.MethodsNeurological was assessed 24 patients (age 1–26 years); classified as normal, complex minor dysfunction (complex MND) or abnormal. Intelligence quotient (IQ) derived from standardized IQ tests with five severity levels intellectual disability (ID). MRI's treatments were assessed.ResultsTen (42%) showed unremarkable examination, 11 (46%) MND, 3 (12%) cerebral palsy (CP). Minor coordination problems identified 17 (71%), fine motor (46%), posture/muscle tone deviancies abnormal reflexes 8 (33%). Six (25%) had an > 85, 7 (29%) borderline, mild, (13%) moderate, 1 severe ID. Cerebral ventriculomegaly on MRI progressive 11. Three normal neurologic exam, IQ, MRI. Eleven treated pyridoxine only 13 by additional lysine reduction therapy (LRT). LRT started at age <3 years demonstrated beneficial effect patients.DiscussionComplex MND CP occurred more frequently (46% 12%) than general population (7% 0.2%, Peters et al., 2011, Schaefer 2008). Twenty-five percent a IQ. Although shows potential to improve outcomes, data are heterogeneous small patient numbers. More research longer follow-up via International PDE Registry (www.pdeonline.org) needed.