Factors impacting time to genetic diagnosis for children with epilepsy
Megan Rimmasch1,2, Carey A Wilson3, Nephi A Walton4
1Graduate Program in Genetic Counseling, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Insights
Factors like developmental delay and public insurance prolonged the time to molecular diagnosis for pediatric epilepsy patients. Conversely, more hospitalizations shortened this diagnostic timeline, highlighting areas for intervention.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
- Healthcare Outcomes Research
Background:
- Molecular diagnosis is crucial for guiding treatment and health supervision in pediatric epilepsy.
- Factors influencing the time to molecular diagnosis in children with epilepsy remain largely uncharacterized.
- Understanding diagnostic timelines is essential for optimizing patient care pathways.
Purpose of the Study:
- To identify and characterize factors associated with the time from initial seizure to molecular diagnosis in pediatric epilepsy patients.
- To analyze recent trends in diagnostic timelines within a contemporary subgroup of patients.
Main Methods:
- Retrospective, population-based review of pediatric epilepsy patients with a genetic etiology.
- Analysis of a 5-year data set, including a subgroup with seizure onset after 2016.
- Statistical evaluation of demographic, clinical, and insurance-related factors against time to molecular diagnosis.
Main Results:
- No significant association found between sex, race, ethnicity, or epilepsy type and time to diagnosis.
- Increased hospitalizations correlated with shorter diagnostic times (p < 0.001), while developmental delay correlated with longer times (p = 0.002).
- In a recent subgroup, commercial insurance was linked to decreased diagnostic time, whereas public insurance and outpatient settings showed longer times.
Conclusions:
- Developmental delay, public insurance, and outpatient settings are associated with prolonged molecular diagnostic timelines in pediatric epilepsy.
- Higher hospitalization rates may expedite genetic diagnosis, suggesting potential benefits of inpatient evaluation.
- Interventions targeting specific patient groups and healthcare settings could accelerate genetic testing and diagnosis, improving management strategies.
Abstract:
Molecular diagnosis for pediatric epilepsy patients can impact treatment and health supervision recommendations. However, there is little known about factors affecting the time to receive a diagnosis. Our objective was to characterize factors affecting the time from first seizure to molecular diagnosis in children with epilepsy. A retrospective, population-based review was used to analyze data from pediatric patients with a genetic etiology for epilepsy over a 5 year period. A subgroup of patients with seizure onset after 2016 was evaluated for recent trends. We identified 119 patients in the main cohort and 62 in a more recent (contemporaneous) subgroup. Sex, race, and ethnicity were not significantly associated with time to molecular diagnosis. A greater number of hospitalizations was associated with a shorter time to diagnosis (p < 0.001). Developmental delay was associated with a longer time to diagnosis (p = 0.002). We found no association for time to diagnosis with a diagnosis of autism, utilization of free genetic testing, or epilepsy type. In the recent subgroup analysis, commercial insurance was associated with decreased time to diagnosis (p = 0.02). Developmental delay, public insurance, or patients in the outpatient setting had longer times to molecular diagnosis. These findings suggest that there may be opportunities to implement interventions aimed at accelerating the provision of genetic testing in pediatric epilepsy. PLAIN LANGUAGE SUMMARY: Genetic diagnosis for pediatric epilepsy patients can impact treatment and care. This study looked at factors that affect how long it takes a pediatric epilepsy patient to receive a genetic diagnosis. We found that sex, race and ethnicity, epilepsy type, and whether the patient had autism did not affect how long it took the patient to receive a diagnosis. However, we found that patients with developmental delay, fewer hospitalizations, and public insurance took a longer time to receive a diagnosis. Our findings suggest potential strategies for reducing the time to receive a genetic diagnosis.
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