RESUMO
As adaptive skills (AS) are dynamic and may indicate the success of an intervention, they are a common domain measured in clinical trials. Typical interview tools for measuring AS are time-consuming, and questionnaire measures often lead to inconsistent information. The present study was designed to evaluate the feasibility, validity and test-retest performance of the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) in Fragile X syndrome (FXS). The PEDI-CAT is administered via tablet and uses the item response theory to efficiently determine the items administered. The PEDI-CAT was administered to 42 individuals with FXS (27 males; 15 females) aged 1.6-50.9 years (M = 14.9; SD = 11.2), followed by the Vineland-3 (VABS-3) interview for comparison. Administration was efficient (M = 21.7 min; SD = 9.5; range 8-45 min; mode = 19). Males and females did not significantly differ on the PEDI-CAT domains, except for daily activities (t(40) = -2.22, p = 0.037). Floor effects were significant for both measures, although the PEDI-CAT showed more floor effects in the mobility (35.7%) and social-cognitive (50%) domains. PEDI-CAT daily activities, mobility, social-cognitive and responsibility domains were all significantly correlated with most of the VABS-3 domains (all rho > 0.5; p < 0.01). Test-rest of the PEDI-CAT was comparable to the VABS-3. Results suggest that the PEDI-CAT is efficient, and minimal training is needed to administer it; however, it lacks specificity and shares a high rate of floor effects with the VABS-3.
RESUMO
Klinefelter syndrome (KS) occurs in 1:600 males and is associated with high morbidity and mortality due to diabetes and cardiovascular disease. Up to 50% of men with KS have metabolic syndrome, a cluster of features conferring increased risk for diabetes and cardiovascular disease. These cardiometabolic (CM) risk features have not been studied in adolescents with KS. The objective of this cohort study was to compare CM risk features in adolescents with KS to controls matched for sex, age, and BMI z score. Fifty males with KS (age 10-17 years) were well-matched to male controls (n = 50) for age (14.0 ± 1.7 vs. 14.0 ± 1.5 years) and BMI z score (0.3 ± 1.3 vs. 0.4 ± 1.2). Three CM risk features were present in 30% of adolescents with KS compared to 12% of controls (RR 2.5, 95% CI 1.1-5.9, p = .048). The KS group had significantly lower HDL cholesterol (p = .006), higher triglycerides (p < .001), and greater waist circumference percentile (p < .001). Despite a normal BMI, the prevalence of CM risk features was very high in adolescents with KS, particularly for central adiposity and dyslipidemia. The pathophysiology of this metabolic profile independent of obesity needs further investigation to facilitate prevention of the high morbidity of cardiovascular disease and diabetes in this population. ClinicalTrials.gov identifiers: NCT01585831 and NCT02723305.
