Joint hypermobility (JH) is a common, though largely ignored physical trait with increasing clinical reverberations. A few papers suggest a link between JH and selected neurodevelopmental disorders, such as developmental coordination disorder (DCD). JH is also the hallmark of various hereditary connective tissue disorders (HCTDs). Children with HCTDs may present abnormal neurodevelopment but its manifestations remain undetermined. This study examined 23 children (group 1), aged 4-13 years, with different HCTDs (i.e., 19 with hypermobile Ehlers-Danlos syndrome (EDS)/hypermobility spectrum disorder, 3 with molecularly confirmed classical EDS, and 1 with Loeys-Dietz syndrome type 1 due to TGFBR2 mutation) and 23, age- and sex-matched children with DCD (group 2). All underwent 14 different psychometric tests exploring motor, cognitive, executive-attentive, and emotional-behavior features. In group 1, 30%, 22%, and 13% patients presented DCD (with or without dysgraphia), learning disabilities, and attention deficit-hyperactivity disorder, respectively. None had cognitive delay. In group 2, 17% patients presented generalized JH and none had HCTDs. DCD children presented more motor and coordination troubles than HCTDs patients, while quality of life of children with HCTDs resulted more deteriorated due to somatic manifestations and behavioral traits. This study presents the full overview of neurodevelopmental attributes in HCTDs, and compares with standardized tools the neurodevelopmental profile of children with DCD and HCTDs. While the high rate of neurodevelopmental comorbidities in HCTDs deserves attention, the impact of a dysfunctional connective tissue in children with a primary diagnosis of DCD needs more research.

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.

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