Pediatric neurology · 2025
Beyond the Diagnosis: Evaluation of Quality-of-Life Measures in Representing the Clinical Characteristics of SLC6A1-Related Neurodevelopmental Disorder.
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Kalvakuntla Sanjana, Dahshi Hamza, Lee MinJae, Armstrong Dallas, Goodspeed Kimberly
Аннотация
BACKGROUND: SLC6A1-Related Neurodevelopmental Disorder (SLC6A1-NDD) is one of the most common monogenic disorders reported in genetic databases. There is no established quality-of-life (QoL) measure that captures the impact of SLC6A1-NDD on patients and caregivers. This study investigates how clinical characteristics of SLC6A1-NDD correlate with QoL scores obtained during our study.
METHODS: We conducted univariable comparisons (n = 52) of the Quality-of-Life Inventory-Disability, Quality-of-Life of Childhood Epilepsy (QOLCE-55, ages 5-18-years), and Pediatric Quality-of-Life Inventory Family Impact Module with 45 clinical characteristics of SLC6A1-NDD. Given the non-normal score distributions of our sample, Spearman's rank order correlation coefficient and Wilcoxon rank-sum test were utilized.
RESULTS: Lower QOLCE-55 total scores were associated with regression, absence seizures, clinical severity, coordination difficulties, and male gender (P < 0.039). Autism severity was significantly associated with lower total scores on all three QoL measures (P < 0.025; ρ = -0.473 to -0.681). Longitudinal Pediatric Quality-of-Life Inventory Family Impact Module scores suggest family relationships can improve over time.
CONCLUSIONS: Of the three measures utilized, QOLCE-55 had the largest representation of statistically significant clinical features driving subdomain and total scores. Autism severity was a driver of lower QoL in all measures. While this suggests the utility of QOLCE-55 in patients with SLC6A1-NDD, subdomain scores of all three measures captured clinical features that were not represented in total scores. Future studies should utilize these measures in larger cohorts of patients to further explore these findings.
METHODS: We conducted univariable comparisons (n = 52) of the Quality-of-Life Inventory-Disability, Quality-of-Life of Childhood Epilepsy (QOLCE-55, ages 5-18-years), and Pediatric Quality-of-Life Inventory Family Impact Module with 45 clinical characteristics of SLC6A1-NDD. Given the non-normal score distributions of our sample, Spearman's rank order correlation coefficient and Wilcoxon rank-sum test were utilized.
RESULTS: Lower QOLCE-55 total scores were associated with regression, absence seizures, clinical severity, coordination difficulties, and male gender (P < 0.039). Autism severity was significantly associated with lower total scores on all three QoL measures (P < 0.025; ρ = -0.473 to -0.681). Longitudinal Pediatric Quality-of-Life Inventory Family Impact Module scores suggest family relationships can improve over time.
CONCLUSIONS: Of the three measures utilized, QOLCE-55 had the largest representation of statistically significant clinical features driving subdomain and total scores. Autism severity was a driver of lower QoL in all measures. While this suggests the utility of QOLCE-55 in patients with SLC6A1-NDD, subdomain scores of all three measures captured clinical features that were not represented in total scores. Future studies should utilize these measures in larger cohorts of patients to further explore these findings.