Understanding Adult Life with Pyridoxine-Dependent Epilepsy, A Dutch Study Sheds Light

October 12, 2023

This article is based on a recent publication titled: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes. Please find the original article here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248223/pdf/main.pdf

If you or someone you know is living with Pyridoxine-Dependent Epilepsy (PDE), you’re probably aware that most of the information focuses on children. But what happens when these kids grow up? A recent Dutch study aimed to answer this question, and the findings offer valuable insights for adults with PDE.

What the Study Explored

The study looked at adults in the Netherlands who have been diagnosed with PDE. Researchers wanted to know how well these adults were managing their seizures, what other neurological symptoms they might have, and how they were doing in terms of mental and social well-being. Specifically, the study involved 10 out of 11 eligible patients and used both clinical data and patient-reported outcome measures (PROMs) to assess the patients’ conditions.

Key Findings

Seizure Control

Good news first: the majority of the adults in the study had their seizures well-controlled just by using pyridoxine, a form of Vitamin B6. Some needed additional medications, and a small percentage still struggled with seizures, but overall, the outlook was positive. Specifically, Seizure control was achieved with pyridoxine monotherapy in 70% of the patients. An additional 20% required common anti-epileptic drugs, and 10% did not achieve complete seizure control. 

Neurological Symptoms

The study found that almost all the adults experienced some neurological symptoms, with tremors being quite common. This means that even if seizures are under control, there might be other neurological aspects to keep an eye on. Specifically, neurologic symptoms were present in 90% of the patients, including tremors in 40%.

Intellectual Abilities

The study also found that many adults with PDE faced challenges in cognitive functioning. In simpler terms, tasks that involve learning, memory, and problem-solving could be more difficult for them compared to the general population. Specifically, intellectual disability was present in 70% of the patients.

Emotional and Social Well-being

Interestingly, when it came to emotional and social aspects like anxiety, depression, and social roles, the adults with PDE were pretty much in line with the general population. Specifically, the cohort scored significantly lower on cognitive functioning compared to the general population but was comparable in other aspects like social roles and abilities. This is encouraging and suggests that despite the challenges, many adults with PDE are finding ways to lead fulfilling lives.

Why This Matters

This study is crucial because it fills a knowledge gap. Until now, we didn’t have much information on what life is like for adults with PDE. The findings suggest that while seizure control is often achievable, there may be other neurological or cognitive challenges that need attention.

Final Thoughts

If you’re an adult living with PDE, or know someone who is, this study brings some much-needed information to the table. It highlights the importance of a comprehensive approach to managing PDE, one that goes beyond just controlling seizures. As always, consult your healthcare provider for a treatment plan that’s tailored to you.

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