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To perform a cross-cultural adaptation of the OMNI verbal descriptors to Brazilian-Portuguese and examine the validity of the Brazilian version for arm-crank activity. Cross-cultural adaptation stages were: permission, translation, synthesis, back translation, expert committee review, pretesting, and submission and appraisal. For the concurrent validity, a Brazilian OMNI-Wheel scale was used to obtain rating of perceived exertion for the overall body (RPEOverall) and arms (RPEArms) in participants (n = 9, 10–17 years) with spina bifida. Cardiopulmonary exercise test was used to measure heart rate (HR) and oxygen uptake (VO2). Repeated Measures Correlation (rrm) was used to examine the scale validity. The cross-cultural adaptation produced equivalence between English and Brazilian-Portuguese verbal descriptors based on successful translation and pretesting. The Brazilian OMNI-wheel was validated based on strong associations of RPEOverall with VO2 (rrm (35) = 0.86, 95% CI [0.93, 0.73], p < 0.001) and HR (rrm (35) = 0.89, 95% CI [0.94, 0.79], p < 0.001) and RPEArms with VO2 (rrm (33) = 0.82, 95% CI [0.91, 0.66], p < 0.001) and HR (rrm (33) = 0.82, 95% CI [0.91, 0.66], p < 0.001). The OMNI scale was cross-culturally adapted to Brazilian-Portuguese. The Brazilian OMNI-Wheel was validated based on strong associations of RPE with HR and VO2. The original English OMNI was cross-culturally adapted to Brazilian-Portuguese. A Brazilian wheelchair OMNI was concurrently validated for Arm-Crank Activity in adolescents with spina bifida. This OMNI scale version may aid health providers in monitoring perceived exertion in Brazil. [ABSTRACT FROM AUTHOR]

Propulsive wheelchair capacity may be influenced by arm muscle performance. Objectives: To determine whether children and adolescent wheelchair-users with spina bifida show reduced arm muscle strength compared to their typically developing peers and to compare muscle strength data obtained by isokinetic and handheld dynamometry (HHD). Participants (mean age 12.5 ± 2.5 years) were assigned to spina bifida (SB; n = 11) or control (n = 22) groups. Isokinetic dynamometry was used to measure peak torque (PT) during dynamic (60°s−1 and 120°s−1) and isometric strength testing (MVIC) for shoulder and elbow flexors and extensors. HHD was used to measure MVIC of the same muscle groups. SB showed reduced isokinetic PT for shoulder extensors at 60°s−1 and 120°s−1, shoulder flexor MVIC, and elbow flexors at 60°s−1 and MVIC; higher PT for shoulder flexors and elbow flexors at 120°s−1; and decreased MVIC for elbow flexors but not extensors compared to controls when assessed by HHD. The SB and control groups showed strong positive correlations between MVIC data obtained by the two devices for all muscle groups (r ≥ 0.81; p <.01), except for shoulder flexor MVIC in controls (r = 0.68; p <.01). SB presented reduced levels of dynamic slow-speed and isometric shoulder and elbow muscle strength and greater dynamic high-speed shoulder and elbow flexor strength than controls possibly due to the exposure to self-sustained wheelchair ambulation. Exercise-based intervention protocols to increase slow-speed arm muscle strength should be considered in youth with SB. Strong positive correlations observed between muscle strength assessed by isokinetic dynamometry and HHD support the use of HHD in this clinical population. [ABSTRACT FROM AUTHOR]

Background and Aims: The genetic epidemiology of inherited neuropathies in children remains largely unknown. In this study, we specifically investigated the genetic profile of a Brazilian cohort of pediatric patients with pure or complex axonal neuropathies, a crucial knowledge in the near future for establishing treatment priorities and perspectives for this group of patients. Methods: Fifty‐three pediatric patients who were assessed prior to reaching the age of 20, and who had clinical diagnoses of axonal hereditary neuropathy or presented with axonal neuropathy as the primary clinical feature, were included in the study. The recruitment of these cases took place from January 1, 2018, to December 31, 2020. The diagnosis was based on clinical and electrophysiological data. A molecular assessment was made using target‐gene panel or whole‐exome sequencing. Subsequently, segregation analysis was performed on available family members, and all candidate variants found were confirmed through Sanger. Results: A molecular diagnosis was reached in 68% of the patients (n = 36/53), considering only pathogenic and probably pathogenic variants. Variants in MFN2 (n = 15) and GJB1 (n = 3) accounted for half of the genetically confirmed patients (50%; n = 18/36). The other 18 genetically diagnosed patients had variants in several less common genes. Interpretation: Apart from MFN2 and GJB1 genes, universally recognized as a frequent cause of axonal neuropathies in most studied population, our Brazilian cohort of children with axonal neuropathies showed an important genetic heterogeneity, probably reflecting the multi ethnicity of the Brazilian population. Diagnostic, counseling, and future interventions should consider this characteristic. [ABSTRACT FROM AUTHOR]

Timed functional tests have been explored to understand the natural history of Duchenne muscular dystrophy (DMD) and to establish warning signs of loss of gait. This study verified whether the combination of the 10-metre walk test (10MWT) and the motor function measure (MFM) could classify the ambulation status of DMD patients. Thirty-two patients, aged between 5 and 22 years, with independent gait initially evaluated over 11 years participated in the study. Two groups were created: ambulators and non-ambulators. For both groups, we calculated a 10MWT ratio, by dividing the time spent to perform the last evaluation by the penultimate evaluation, and a MFM dimension-1 score (MFM-D1), collected in the same period. For the statistical analysis, the CART algorithm ("rpart" package in R) classified the patients into ambulators and non-ambulators according to two continuous variables: the 10MWT ratio and the MFM-D1 score. The cut-off points were 1.1 for the 10MWT ratio and 26 points for the MFM-D1, which distinguished 70% of the patients as either ambulators or non-ambulators. This simple measurement strategy can be used by therapists to adjust their rehabilitation strategies and goals. Combination of 10MWT ratio with MFM-D1 reveal an "indicator" for the ambulation status of patients with DMD. Physiotherapists can guide clinical care and prepare the patient and family for loss of gait. CART algorithm describes how we classified the patients according to two continuous variables. 70% Of the patients with DMD can be distinguished as either ambulators or non-ambulators. [ABSTRACT FROM AUTHOR]

Introduction/Aims: Considering the heterogeneity of the clinical manifestations of Duchenne muscular dystrophy (DMD), it is important to describe their various clinical profiles. Thus, in this study we aimed to develop percentile curves for DMD using a battery of measures to define the patterns of functional abilities, timed tests, muscle strength, and range of motion (ROM). Methods: This retrospective data analysis was based on the records of patients with DMD using the Motor Function Measure (MFM) scale, isometric muscle strength (IS), dorsiflexion ROM, 10‐meter walk test (10 MWT), and 6‐minute walk test (6 MWT). Percentile curves (25th, 50th, and 75th percentiles) with MFM, IS, ROM, 10 MWT, and 6 MWT on the y axis and patient age on the x axis were constructed using the generalized additive model for location, scale, and shape, with Box‐Cox power exponential distribution. Results: There were records of 329 assessments of patients between 4 and 18 years of age. The MFM percentiles showed a gradual reduction in all dimensions. Muscle strength and ROM percentiles showed that the knee extensors were the most affected from 4 years of age, and dorsiflexion ROM negative values were noted from the age of 8 years. The 10 MWT showed a gradual increase in performance time with age. For the 6 MWT, the distance curve remained stable until 8 years, with a subsequent progressive decline. Discussion: In this study we generated percentile curves that can help health professionals and caregivers follow the trajectory of disease progression in DMD patients. [ABSTRACT FROM AUTHOR]

Purpose: We analyzed the evolution and pattern of heart rate (HR) during the 12-minute wheelchair propulsion field test (WPFT) and compared the peak HR (HRpeak) from the WPFT to the HRpeak obtained in the progressive cardiopulmonary exercise test on arm cranking ergometer (ACT). We aimed to determine if the field test detects the HRpeak consistently and could be used in clinical practice. Methods: Eleven wheelchair-using children and adolescents with myelomeningocele (aged 8-15 y) performed a maximal ACT and a 12-minute WPFT. HR was recorded continuously at rest, during each minute of the tests, and at recovery. Mixed analysis of variance was used to compare the variables at rest and peak. Bland--Altman plot and Lin's concordance correlation coefficient were used to show agreement between the tests. Results: During minute 2 of the WPFT, participants reached 73%-96% of the HRpeak values recorded in the ACT. From minutes 4 to 12, participants reached HRpeak values ranging 86%-109% of the values recorded in the ACT. There is agreement between the ACT and the WPFT tests. Conclusion: WPFT with minimal duration of 4 minutes may be an alternative tool to obtain HRpeak in children and adolescents with myelomeningocele. [ABSTRACT FROM AUTHOR]

The purpose of this study was to perform a cross-cultural adaptation of the Functional Mobility Scale (FMS) to Brazilian Portuguese and analyse its construct validity and intra-rater reliability in a sample of caregivers of children and adolescents with spina bifida (SB). The cross-cultural adaptation followed five stages: two forward translations, synthesis, back-translation, committee review and pre-testing (n = 20). Construct validity was assessed by comparing the FMS with the classifications of Hoffer and Schoenmakers (n = 40). Intra-rater reliability was assessed by comparing the ratings of 14 caregivers, on two occasions. Kendall's tau correlation coefficient was used to test the construct validity of the FMS, while the kappa coefficient was used to test intra-rater reliability. Caregivers reported no difficulties with completing the FMS in Brazilian Portuguese. Construct validity tests showed positive correlations between the distances of 5 m (house), 50 m (school) and 500 m (community) in the FMS and the classifications of Hoffer (τ = 0.84; τ = 0.90; τ = 0.68; p < 0.01) and Schoenmakers (τ = 0.83; τ = 0.89; τ = 0.76; p < 0.01), respectively. Excellent intra-rater reliability (kappa = 0.9–1.0) was found for all three distances in the FMS. The FMS in Brazilian Portuguese showed acceptable intra-rater reliability and construct validity when used to measure the mobility level of patients with SB. We recommend its use in clinical practice and research. A valid and reliable instrument for assessing the mobility of patients with SB; A cross-cultural and adapted FMS in Brazilian Portuguese; An instrument for therapeutic and functional approaches outside the clinical setting; The FMS in the Brazilian Portuguese online version shows mistranslations. [ABSTRACT FROM AUTHOR]