Italian validation of the functional difficulties questionnaire (FDQ‐9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorder. Issue 1 (23rd November 2018)

• Record Type: Journal Article
• Authors: Morlino, Silvia; Dordoni, Chiara; Sperduti, Isabella; Clark, Carol J.; Piedimonte, Caterina; Fontana, Andrea; Colombi, Marina; Grammatico, Paola; Copetti, Massimiliano; Castori, Marco
• Is Part Of: American journal of medical genetics. Volume 180:Issue 1(2019)
• Page Start: 25
• Page End: 34
• Publication Date: 2018-11-23
• Subjects: coordination -- dysautonomia -- Ehlers–Danlos syndrome -- joint hypermobility -- pain -- quality of life; Neuropsychiatry -- Periodicals; Medical genetics -- Periodicals; 616.8904205
• DOI: 10.1002/ajmg.b.32698
• Languages: English
• ISSNs: 1552-4841

Abstract

Abstract : The 2017 nosology defines the new criteria for hypermobile Ehlers–Danlos syndrome (hEDS), which is now considered one end of a continuous spectrum encompassing isolated, nonsyndromic joint hypermobility (JH) and hypermobility spectrum disorders (HSDs). Preliminary data indicate a link between JH and neurodevelopmental disorders and, in particular, developmental coordination disorder (DCD) in children. Assessing DCD in adults is difficult and the recently described functional difficulties questionnaire 9 (FDQ‐9) is one of the few available tools. The aims of this study are to (a) validate FDQ‐9 written in Italian and present normal values in 230 Italian controls; (b) explore the relationship of FDQ‐9 with the brief pain inventory, composite autonomic symptom score 31, multidimensional fatigue inventory, attention deficit/hyperactivity disorder self‐report version 1.1, and the SF‐36 for quality of life in 105 Italian adults with hEDS/HSD. Validation of the FDQ‐9 in Italian was carried out by translation, cross‐cultural adaptation and test/retest reliability analysis. A case–control study was performed comparing the FDQ‐9 outcome between 105 patients and 105 sex‐ and age‐matched controls. Fifty‐nine percent of the patients resulted positive compared to the 3.8% of controls ( p value < .00001). In patients, FDQ‐9 positive result associated with positive attention deficit/hyperactivity disorder self‐report version 1.1 (OR = 4.04). Multivariate regression analysis comparing FDQ‐9 with the other questionnaires demonstrated a strong association between positive FDQ‐9 and the number of painful joints. Our preliminary data open wider management and therapeutic perspectives for coordination difficulties in hypermobile individuals.