Expert Reviewed By: Dr. Brandon Colby MD
Understanding Epilepsy Due to Perinatal Stroke
Perinatal stroke, a type of stroke that occurs in the period just before, during, or shortly after birth, can have long-lasting consequences on a child's health. One such consequence is the development of epilepsy, a neurological disorder characterized by recurrent seizures. A recent study evaluating the outcomes of children with perinatal ischemic stroke (PIS) and seizures/epilepsy found that patients with PIS often develop cerebral palsy and have worse outcomes with later onset of epilepsy (source).
Furthermore, another study found that epileptic spasms following perinatal stroke predict poor epilepsy outcomes, with differences in outcomes depending on the vascular subtype (source).
Diagnosing Epilepsy Due to Perinatal Stroke
Diagnosing epilepsy due to perinatal stroke can be challenging, as the symptoms may vary depending on the child's age and the specific brain area affected. However, a thorough medical history, physical examination, and imaging studies such as magnetic resonance imaging (MRI) or computed tomography (CT) scans can help identify the underlying cause of the seizures.
In some cases, a genetic work-up may also be necessary, especially in multisystem diseases involving stroke, epilepsy, dystonia, noncompaction, and kidney agenesis (source).
The Role of Genetic Testing in Epilepsy Due to Perinatal Stroke
Identifying Genetic Causes
Genetic testing can be helpful in identifying the specific genetic mutations or abnormalities that may be contributing to a child's epilepsy due to perinatal stroke. This information can be useful for both diagnosis and treatment planning, as certain genetic causes may respond better to specific therapies (source).
Guiding Treatment Decisions
Once the genetic basis of a child's epilepsy is identified, this information can help guide treatment decisions. For example, some genetic mutations may be associated with a better response to certain antiepileptic drugs, while others may require more aggressive treatment strategies such as surgery or neurostimulation (source).
Assessing Prognosis and Recurrence Risk
Genetic testing can also provide valuable information about a child's prognosis and the risk of epilepsy recurrence in future pregnancies. Knowing the specific genetic cause of a child's epilepsy can help healthcare providers better predict the course of the disease and provide appropriate counseling to families regarding the likelihood of recurrence in future children (source).
Supporting Research and Development
Finally, genetic testing can contribute to ongoing research efforts aimed at better understanding the complex relationship between genetics, perinatal stroke, and epilepsy. By identifying and studying the specific genetic factors involved in these cases, researchers can work towards developing more targeted and effective treatments for children affected by epilepsy due to perinatal stroke (source).
Conclusion
Epilepsy due to perinatal stroke is a complex and challenging condition that can have significant impacts on a child's health and development. Genetic testing can play a crucial role in understanding the underlying causes, guiding treatment decisions, assessing prognosis, and supporting ongoing research efforts. By leveraging the power of genetic testing, healthcare providers and researchers can work together to improve the lives of children affected by this devastating condition.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)