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

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, non-syndromic joint hypermobility (JH) and hypermobility spectrum disorders (HSD). 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 (i) validate FDQ-9 written in Italian and present normal values in 230 Italian controls; and (ii) 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 casecontrol 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 <0.00001). 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.

Is the Pain Just Physical? The Role of Psychological Distress, Quality of Life, and Autistic Traits in Ehlers–Danlos Syndrome, an Internet-Based Survey in Italy

“…Almost 20% of the subjects revealed a severely impaired quality of life in mental health and social functioning. This finding is consistent with Morlino et al [38] who found a significant reduction in QoL and a significant association with functional difficulties. Additionally, they observed that the number of painful joints was a predictor of functional impairment.…”

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

“…The discreetly high incidence of chronic fatigue observed in our cEDS cohort is in line with previous observations that emphasized that in EDS this issue is more common than in the general population and likely contributes to the patients' functional impairment, psychological distress, and decreased QoL [86][87][88][89]. Like in the general population, in cEDS fatigue is multifactorial with contributing factors including articular pain, headache, sleep disturbance, and abnormally low blood pressure often associated with postural orthostatic tachycardia syndrome (POTS) or neurally mediated hypotension (NMH), nutritional deficiency, medications, and/or allergies (present in 32% of our patients) [80,81,87,[90][91][92][93][94][95]. Cerebrospinal fluid leak, which has been reported in cEDS as a cause of postural hypotension and headache [96], was not diagnosed in our cohort (e.g.…”

Hypermobility spectrum disorders and active migraine in Israeli adolescents: A nationwide study

“…Sixth, we could not distinguish between HSD and hEDS, but because of the extensive clinical overlap between the two, 38 previous studies suggested that they should be addressed, for clinical and research purposes, as one group 39 . Recent studies that explored other comorbidities of HSD and hEDS grouped the two conditions in a single phenotype termed HSD/hEDS 40–42 . The strengths of this study include its nationwide sample, systematic collection of medical, psychiatric, and socioeconomic data, and routine screening of adolescents for migraine and HSD/hEDS.…”