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Camila Miliani Capelini,1 Talita Dias da Silva,2 James Tonks,3–5 Suzanna Watson,6 Mayra Priscila Boscolo Alvarez,1 Lilian Del Ciello de Menezes,1 Francis Meire Favero,2 Fátima Aparecida Caromano,1 Thais Massetti,1 Carlos Bandeira de Mello Monteiro1 1Graduate Program in Rehabilitation Sciences, Faculty of Medicine, University of São Paulo, 2Department of Medicine, Paulista School of Medicine, Federal University of São Paulo, São Paulo, SP, Brazil; 3University of Exeter Medical School, Exeter, 4University of Lincoln, Lincoln, 5Haven Clinical Psychology Practice, Cornwall, 6The Cambridge Centre for Paediatric Neuropsychologicial Rehabilitation, Cambridge, UK Background: In individuals severely affected with Duchenne muscular dystrophy (DMD), virtual reality has recently been used as a tool to enhance community interaction. Smartphones offer the exciting potential to improve communication, access, and participation, and present the unique opportunity to directly deliver functionality to people with disabilities.Objective: To verify whether individuals with DMD improve their motor performance when undertaking a visual motor task using a smartphone game.Patients and methods: Fifty individuals with DMD and 50 healthy, typically developing (TD) controls, aged 10–34 years participated in the study. The functional characterization of the sample was determined through Vignos, Egen Klassifikation, and the Motor Function Measure scales. To complete the task, individuals moved a virtual ball around a virtual maze and the time in seconds was measured after every attempt in order to analyze improvement of performance after the practice trials. Motor performance (time to finish each maze) was measured in phases of acquisition, short-term retention, and transfer.Results: Use of the smartphone maze game promoted improvement in performance during acquisition in both groups, which remained in the retention phase. At the transfer phases, with alternative maze tasks, the performance in DMD group was similar to the performance of TD group, with the exception of the transfer to the contralateral hand (nondominant). However, the group with DMD demonstrated longer movement time at all stages of learning, compared with the TD group.Conclusion: The practice of a visual motor task delivered via smartphone game promoted an improvement in performance with similar patterns of learning in both groups. Performance can be influenced by task difficulty, and for people with DMD, motor deficits are responsible for the lower speed of execution. This study indicates that individuals with DMD showed improved performance in a short-term motor learning protocol using a smartphone. We advocate that this technology could be used to promote function in this population. Keywords: motor skills, physical therapy, cell phone, virtual reality exposure therapy, transfer of learning

Silvia Regina Pinheiro Malheiros,1 Talita Dias da Silva,2 Francis Meire Favero,2 Luiz Carlos de Abreu,1 Felipe Fregni,3 Denise Cardoso Ribeiro,4 Carlos Bandeira de Mello Monteiro1,4,5 1School of Medicine of ABC, Santo Andre, Brazil; 2Department of Medicine, Paulista School of Medicine, Federal University of São Paulo, São Paulo, Brazil; 3Center for Neurosciences, University of São Paulo, São Paulo, Brazil; 4Post-graduate Program in Rehabilitation Sciences, Faculty of Medicine, University of São Paulo, São Paulo, Brazil; 5School of Arts, Sciences and Humanities, University of São Paulo, São Paulo, Brazil Aims: Two specific objectives were established to quantify computer task performance among people with Duchenne muscular dystrophy (DMD). First, we compared simple computational task performance between subjects with DMD and age-matched typically developing (TD) subjects. Second, we examined correlations between the ability of subjects with DMD to learn the computational task and their motor functionality, age, and initial task performance.Method: The study included 84 individuals (42 with DMD, mean age of 18±5.5 years, and 42 age-matched controls). They executed a computer maze task; all participants performed the acquisition (20 attempts) and retention (five attempts) phases, repeating the same maze. A different maze was used to verify transfer performance (five attempts). The Motor Function Measure Scale was applied, and the results were compared with maze task performance.Results: In the acquisition phase, a significant decrease was found in movement time (MT) between the first and last acquisition block, but only for the DMD group. For the DMD group, MT during transfer was shorter than during the first acquisition block, indicating improvement from the first acquisition block to transfer. In addition, the TD group showed shorter MT than the DMD group across the study.Conclusion: DMD participants improved their performance after practicing a computational task; however, the difference in MT was present in all attempts among DMD and control subjects. Computational task improvement was positively influenced by the initial performance of individuals with DMD. In turn, the initial performance was influenced by their distal functionality but not their age or overall functionality. Keywords: computer task, motor learning, Duchenne muscular dystrophy, movement time

Aim : To verify and compare trunk control and upper limb functionality (ULs) in walking and non-walking DMD individuals, with that of individuals without dystrophinopathies. Method : Cross-sectional study, with children without dystrophinopathy (healthy control group) and in walking and non-walking DMD children evaluated by the following scales: Segmental Control Evaluation Trunk (SATCo); Performance of Upper Limb (PUL) and Jebsen-Taylor Test (JTT). Results : There was a difference between the groups in trunk control and ULs function by the PUL scale, but there was no difference between walking and the reference group in all JTT subtests; The JTT writing subtest was not different between groups. There was a strong correlation between PUL and SATCo, both had a strong correlation with disease staging and a weak correlation with JTT. Conclusions : There is relevance to the evaluation of trunk control and ULs function of walking and non-walking DMD.

Duchenne muscular dystrophy (DMD) usually affects men. However, women are also affected in rare instances. Approximately 8% of female DMD carriers have muscle weakness and cardiomyopathy. The early identification of functional and motor impairments can support clinical decision making., Objective: To investigate the motor and functional impairments of 10 female patients with dystrophinopathy diagnosed with clinical, pathological, genetic and immunohistochemical studies., Methods: A descriptive study of a sample of symptomatic female carriers of DMD mutations. The studied variables were muscular strength and functional performance., Results: The prevalence was 10/118 (8.4%) symptomatic female carriers. Deletions were found in seven patients. The age of onset of symptoms in female carriers of DMD was quite variable. Pseudohypertrophy of calf muscles, muscular weakness, compensatory movements and longer timed performance on functional tasks were observed in most of the cases. Differently from males with DMD, seven female patients showed asymmetrical muscular weakness. The asymmetric presentation of muscle weakness was frequent and affected posture and functionality in some cases. The functional performance presents greater number of compensatory movements. Time of execution of activities was not a good biomarker of functionality for this population, because it does not change in the same proportion as the number of movement compensations., Conclusion: Clinical manifestation of asymmetrical muscle weakness and compensatory movements, or both can be found in female carriers of DMD mutations, which can adversely affect posture and functional performance of these patients.

Background: The Jebsen-Taylor Test evaluates upper limb function by measuring timed performance on everyday activities. The test is used to assess and monitor the progression of patients with Parkinson disease, cerebral palsy, stroke and brain injury., Objectives: To analyze the reliability, internal consistency and validity of the Jebsen-Taylor Test in people with Muscular Dystrophy and to describe and classify upper limb timed performance of people with Muscular Dystrophy., Methods: Fifty patients with Muscular Dystrophy were assessed. Non-dominant and dominant upper limb performances on the Jebsen-Taylor Test were filmed. Two raters evaluated timed performance for inter-rater reliability analysis. Test-retest reliability was investigated by using intraclass correlation coefficients. Internal consistency was assessed using the Cronbach alpha. Construct validity was conducted by comparing the Jebsen-Taylor Test with the Performance of Upper Limb., Results: The internal consistency of Jebsen-Taylor Test was good (Cronbach's α=0.98). A very high inter-rater reliability (0.903-0.999), except for writing with an Intraclass correlation coefficient of 0.772-1.000. Strong correlations between the Jebsen-Taylor Test and the Performance of Upper Limb Module were found (rho=-0.712)., Conclusion: The Jebsen-Taylor Test is a reliable and valid measure of timed performance for people with Muscular Dystrophy., (Copyright © 2017 Associação Brasileira de Pesquisa e Pós-Graduação em Fisioterapia. Publicado por Elsevier Editora Ltda. All rights reserved.)

Objective: To evaluate whether people with Duchenne muscular dystrophy (DMD) practicing a task in a virtual environment could improve performance given a similar task in a real environment, as well as distinguishing whether there is transference between performing the practice in virtual environment and then a real environment and vice versa., Methods: Twenty-two people with DMD were evaluated and divided into two groups. The goal was to reach out and touch a red cube. Group A began with the real task and had to touch a real object, and Group B began with the virtual task and had to reach a virtual object using the Kinect system., Results: ANOVA showed that all participants decreased the movement time from the first (M = 973 ms) to the last block of acquisition (M = 783 ms) in both virtual and real tasks and motor learning could be inferred by the short-term retention and transfer task (with increasing distance of the target). However, the evaluation of task performance demonstrated that the virtual task provided an inferior performance when compared to the real task in all phases of the study, and there was no effect for sequence., Conclusions: Both virtual and real tasks promoted improvement of performance in the acquisition phase, short-term retention, and transfer. However, there was no transference of learning between environments. In conclusion, it is recommended that the use of virtual environments for individuals with DMD needs to be considered carefully.

We compared the timed performance and compensatory movements of 32 boys (mean age = 10.0 years) with Duchenne muscular dystrophy (DMD) and 38 healthy boys (mean age = 9.2 years) on 10 -meter walking and four-step stair work (climbing and descending). Dependent measures were digital scores on the Functional Evaluation Scale for DMD obtained by watching the boys on film. Groups were compared initially and after 6 and 12 months, using General Linear Models analysis (for two groups and three assessments). Results showed no significant timed performance differences between groups on 10 -m walking at the initial assessment; but boys with DMD showed longer times after 6 and 12 months, and boys with DMD engaged in more compensatory movements while walking. For stair climbing, boys with DMD were significantly slower than healthy controls when both climbing and descending steps in all assessments.

Objective: To investigate the impact of epidemiological and clinical factors on the benefit of riluzole in patients with amyotrophic lateral sclerosis (ALS)., Methods: The survival rate of 578 patients with ALS (1999-2011) was analyzed by descriptive statistics and Kaplan-Meier curves. Considering the median of the sample survival time (19 months), patients were divided in two groups: below (B19) and above the median (A19). Kaplan-Meier curves compared the survival rates of patients treated with riluzole and with patients who did not take the medication., Results: Riluzole increased the survival rates of patients with lower limb onset who were diagnosed after the first appointment in B19. Patients with bulbar onset and diagnosed on the first, or after the first appointment showed higher survival rates in A19. Males lived longer than females in both groups., Conclusion: Epidemiological and clinical factors influenced the benefit of riluzole in the survival rates of patients with ALS.

This study aimed to investigate possible asymmetries and relationships between performance of dominant and non-dominant upper limbs (UL) in patients with Duchenne and Becker muscular dystrophies (DMD/BMD), to compare UL performance of patients and healthy subjects and to investigate the relationship between timed performance of UL and age, motor function and muscle strength in DMD/BMD patients. Sixteen patients with DMD and 3 with BMD were evaluated with Jebsen-Taylor Test (timed performance), Vignos scale and Dimension 3 of Motor Function Measure (motor function), and Medical Research Council scale (muscle strength) on a single session. ANOVA showed no asymmetry between dominant and non-dominant UL, except in the writing subtest, in patients and in healthy controls. There were relationships between dominant and non-dominant UL performances. Correlations between timed performance, motor function and muscle strength were found, but age was not correlated with these variables. These findings may reduce the assessment time, prevent fatigue and provide more accurate clinical reasoning involving UL in DMD/BMD treatment.

The aim of this study was to investigate the relationship between Performance of Upper Limb (PUL) and Jebsen-Taylor Test (JTT) to assess and monitor upper limb function progression in patients with muscular dystrophy. Thirty patients diagnosed with Duchenne muscular dystrophy, limb-girdle muscular dystrophy, Becker muscular dystrophy, myotonic dystrophy Type 1, and fascioscapulohumeral dystrophy were submitted to the shoulder, elbow, and wrist domains of PUL, and to JTT subtests. Spearman tests investigated the relationships between PUL and JTT total scores and domains. Correlations were classified as strong ( r ≥ 0.70), moderate (0.40 ≤  r < 0.70), or weak ( r ≤ 0.40). There were strong correlations between the PUL and JTT total scores ( r = -0.706). Although JTT measures time and PUL provides kinesiologic scores, these measures were related. Therefore, muscle synergies, which control the compensatory movements and motor functions involving mainly shoulder, elbow, wrist, and finger movements, are related to timed performance in patients with muscular dystrophies.

The aim was to describe trunk control in ambulant and non-ambulant patients with Duchenne muscular dystrophy (DMD). We conducted a cross-sectional analysis of a sample of 50 DMD patients, (M age = 16.7 years) who underwent the Segmental Assessment of Trunk Control (SATCo). A seven-level scale of trunk control was used (1: head control only; 7: control of entire trunk while unsupported). Static, active and reactive posture control were evaluated in ambulant and non-ambulant patients. Inter-rater reliability for all assessments was evaluated by calculating the kappa coefficient. More advanced disease (having higher Vignos scores), was associated with poorer trunk control. Ambulant patients showed better trunk control than non-ambulant patients (p = 0.003). There was strong inter-rater agreement for SATCo scale scores.

Objective: To describe the mortality rates of amyotrophic lateral sclerosis (ALS) in the city of São Paulo as a function of demographics, year, and region., Method: This was a retrospective descriptive study. Information was obtained from death certificates registered at the Program for the Improvement of Mortality Information, Municipal Health Department (PRO-AIM/SMS), coded as G12.2 according to International Classification of Diseases (ICD-10), from 2002 to 2006., Results: Over the studied time, were found 326 deaths (51.6% women, overall mean age of 64.1 years). Highest deaths percentages happened in those from 60 to 69 and 70 to 79 years and in white individuals. ALS mortality rates ranged 0.44/100,000 in 2002 and 0.76/100,000 in 2006. No significant changes overtime in administrative districts were found., Conclusion: ALS mortality rates in São Paulo were lower in comparison to other countries, however any risk factor in our environment, lifestyle or genetic characteristics were found.