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Purpose: The aim of this study was to adapt the Upper Extremity Functional Index (UEFI) to an Italian population affected by Facioscapulohumeral muscular dystrophy (FSHD) by translating and validating this instrument in an Italian cohort., Materials and Methods: Five Italian FSHD patients were interviewed regarding the form and content of the translated instrument. Subsequently, fifty-two patients were recruited for the validation purpose by serially completing the UEFI-IT and a battery of clinical assessments and questionnaires. Finally, a subset of thirty-nine patients underwent test-retest reliability., Results: The Italian translation of the UEFI was highly relevant to patients, had a level of test-retest reliability from "good" to "excellent" (ICC = 0.90 with 95% confidence interval between 0.82 and 0.95), and a satisfactory internal consistency (Cronbach's alpha = 0.96). Participants confirmed the usefulness and clearness of the tool in cultural validity. In known group validity, the UEFI-IT was significantly lower in patients unable to walk (24.10 ± 11.33 vs 55.71 ± 13.98, p < .0001; AUC = 0.9631) and in patients with longer disease duration (43.43 ± 17.16 vs 58.14 ± 13.71, p  = 0.0034; AUC = 0.7359). Finally, the concurrent validity showed strong associations between the UEFI-IT and motor assessments, pain perception, and quality-of-life evaluations., Conclusions: Overall, the UEFI-IT is an appropriate, valid, and reliable outcome measure for Italian-speaking FSHD patients. more...

Purpose: The aim of this study was to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) to an Italian population affected by FSHD by translating, validating, and testing this instrument in an Italian cohort., Materials and Methods: Italian FSHD patients were interviewed regarding the form and content of the translated instrument. Subsequently, forty FSHD patients were recruited to test the reliability (Intraclass Correlation Coefficient, ICC for test-retest; and Cronbach's Alpha for Internal consistency), known groups (Mann-Whitney U test and Area Under the Curve, AUC) and concurrent validity (Pearson's and Spearman's Rank Correlation Coefficient) of the instrument by serially completing the FSHD-HI and an extensive set of tests measuring the neuromotor, psychological and cognitive functions, and perceived quality of life (QoL) aspects., Results: The Italian translation of the FSHD-HI and its subscales were highly relevant to patients, had a high internal consistency (Cronbach's Alpha = 0.90), optimal test-retest reliability (ICC= 0.95), and was significantly associated with motor function, respiratory function, and QoL assessments., Conclusions: Overall, the Italian FSHD-HI is a valid and well-suited measurement of the multi-dimensional aspects of disease burden in FSHD patients. more...

Background: Action observation plus motor imagery (AOMI) and somatosensory discrimination training (SSDT) represent sensory input-based approaches to train the motor system without necessarily asking subjects to perform active movements., Purpose: To investigate AOMI and SSDT effects compared to no intervention on manual dexterity in healthy subjects., Study Design: Randomized controlled study., Methods: Sixty healthy right-handed participants were randomized into AOMI, SSDT or Control (CTRL) groups. AOMI observed video-clips including right-hand dexterity tasks and concurrently performed motor imagery, SSDT performed surfaces recognition and 2-point distance discrimination tasks with the right hand, whereas CTRL underwent no intervention. A blinded physiotherapist assessed participants for manual dexterity using the Purdue Pegboard Test (Right hand-R, Left hand-L, Both hands-B, R+L+B and assembly tasks) at baseline (T0) and training end (T1). A mixed-design Analysis of Variance with Time as within-subject factor and Group as between-subject factor was used to investigate between-group differences over time., Results: A Time by Group interaction and Time effect were found for R task, which increased from T0 to T1 in all groups with very large effect sizes for SSDT (d = 1.8, CI 95 2.4-1.0, P < .001) and AOMI (d = 1.7, CI 95 2.5-1.0, P < .001) and medium effect size for CTRL (d = 0.6, CI 95 1.2-0.2, P < .001). Between-group post-hoc comparison for deltas (T1-T0) showed large effect size (d = 1.0, CI 95 1.6-0.3, P = .003) in favor of SSDT and medium effect size (d = 0.7, CI 95 1.4-0.1, P = .026) in favor of AOMI compared to CTRL. Time effects were found for L, B, R + L + B and assembly tasks (P < .001)., Conclusions: AOMI and SSDT induced greater manual dexterity improvements than no intervention. These findings supported the role of visual and somatosensory stimuli in building a motor plan and enhancing the accuracy of hand movements. These non-motor approaches may enhance motor performance in job or hobbies requiring marked manual dexterity., Competing Interests: Declaration of Competing Interest None., (Copyright © 2024 Elsevier Inc. All rights reserved.) more...

Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack of age-appropriate and disease-specific measures. We investigated mastication and swallowing in children and adults with SMA, sitters and walkers. In a 2-year multicentre cross-sectional prospective study, lip and tongue strength (Iowa Oral Performance Instrument), chewing and swallowing (Test of Masticating and Swallowing Solids), active mouth opening (aMMO) were compared to age-appropriate normative data. The perceived burden of oro-bulbar involvement (SMA-Health Index) was recorded. 78 patients were included, 45 children (median age 7.4 years),22 adults (median age 26.8 years) on nusinersen and 11 untreated (median age 32.7 years). Forty-three percent children had reduced mouth opening, 50% had prolonged total time to eat. These issues were more prominent in sitters than in walkers (p = 0.019, p = 0.014). Sixty-six percent needed increased swallows for bolus clearance. Nusinersen treated adults had median aMMO, tongue strength and total time at TOMASS values within normal range (z score: -1.40, -1.22, -1.32, respectively) whereas untreated adults had reduced aMMO (z score: -2.68) and tongue strength (z score: -2.20). Only a minority of children (2/17) and treated adults (5/21) reported burden in swallowing or mastication compared to all untreated adults (5/5). After 16 months, mastication and swallowing were stable in treated children and adults, whether sitters or walkers. The reported multimodal approach to assess oro-bulbar functions demonstrate that swallowing and mastication are impaired in SMA despite patients' perception. These results suggest a trend towards stabilization of oro-bulbar function in patients on long-term treatment with nusinersen., (© 2023. The Author(s).) more...