Measures

The ASEBA ASR is a reliable, validated measure of social-adaptive and psychological functioning in adults aged 18–59 and the OASR is for ages 60–90+ (Achenbach and Rescorla 2003). Norms represent the mix of ethnicities, socioeconomic status, urban–rural–suburban residency, and geography within the USA. Raw scores are converted to T-scores to permit comparisons with the general population. Scale scores are normed by gender and age and categorized as normal (<93rd percentile), borderline-clinical (93rd–97th percentiles), or clinical (>97th percentile). The ASEBA is used with a wide variety of medical conditions, including cystic fibrosis, Fabry, Morquio, Turner, Williams, Angelman, and Prader–Willi syndromes (Achenbach and Rescorla 2003; Ali and Cagle 2015; Laney et al. 2010). For this study, the Depression scale and Mean Adaptive Functioning scale were used.

The BPI is a reliable, validated measure of pain severity and interference in daily life (Cleeland 2009). It yields mean Pain Severity (PS) and Pain Interference (PI) scores. PI scores consist of two dimensions (physical activity and affective) and measure how much subjects’ pain interferes with general activity, mood, walking, normal work, relationships, sleep, and enjoyment of life. The BPI has been used with a variety of medical conditions, including Fabry and other LSDs (Ali and Cagle 2015; Cleeland 2009; Laney et al. 2010).

The SF-36 is a 36-item survey measuring QOL. Scores provide summary measurements of physical and mental well-being. Raw scores are converted to T-scores and norm-based. The SF-36 is a reliable, validated questionnaire (Maruish and DeRosa 2009; Maruish and Kosinski 2009) used with a variety of medical conditions, including Fabry and other LSDs (Ali and Cagle 2015; Hoffmann et al. 2005; Laney et al. 2010; Watt et al. 2010; Weinreb et al. 2007; Wilcox et al. 2008).