Brooke Scale Research Articles

The Use of a Virtual Reality System in the Rehabilitation of Children with Progressive Muscular Dystrophies

The research aim is to prove the effectiveness of individual programs of physical therapy and occupational therapy for children with progressive muscular dystrophy (PMD), which include game technologies of virtual reality. The following research methods were used in the work: general scientific (analysis, synthesis, synthesis of literature); clinical (clinical examination); pedagogical (observation, experiment); biomedical (development of motor functions), mathematical statistics. It has been proven that after the implementation of a synergistic rehabilitation program on the MFM scale positive changes were observed among children with dystrophic pathologies; according to the Vignos scale, no improvement in results was recorded; according to the Brooke scale - similar situation,among children with PMD Landusy-Dejerin, Emery-Dreyfus and unspecified form, the final results did not differ from the weekend, and among children with Duchenne muscular dystrophy, born PMD and Erb-Roth PMD showed deterioration of parameters.

Longitudinal Course of Long Finger Flexor Shortening in Males with Duchenne Muscular Dystrophy: A Retrospective Review1.

Shortening of the long finger flexors (Flexor Digitorum Profundus, FDPs) in Duchenne Muscular Dystrophy (DMD) causes reduced hand function. Until now, longitudinal studies on the natural course of the shortening of the FDPs are lacking, which impedes recommendations on timing and evaluation of preventive measures. To investigate the longitudinal course of the FDP length during different disease stages focusing on symmetry, timing, and decline of the FDP length. A retrospective, longitudinal multicenter study was conducted in the Radboud university medical center and the Leiden university medical center. The FDP outcome was measured using goniometry and gross motor function was assessed using the Brooke score. Longitudinal mixed model analyses were used to describe the course of the FDP outcome, and to investigate symmetry in both hands. Data on 534 visits of 197 males (age ranged 4-48 years) showed that in the ambulatory stages the FDP outcome was within a normal range. The mean decline in FDP outcome is 3.5 degrees per year, the biggest decline was seen in Brooke 5 (>15 degrees per year). In Brooke 4, 41% of the FDP outcome was < 40 degrees. No significant differences were found between right and left. This study supports the consideration of preventive measures to delay shortening of the FDPs in DMD patients transitioning to a Brooke scale of 4 or higher. Besides, natural history of FDP outcome has been established, which provides a base to evaluate (preventive) interventions.

Design requirements of upper extremity supports for daily use in Duchenne muscular dystrophy with severe muscle weakness.

People with Duchenne muscular dystrophy (DMD) cope with progressive muscular weakness and consequential upper extremity function loss. They benefit from arm supports, or arm exoskeletons, to assist arm function. Especially for severe muscle weakness (DMD ≥ Brooke Scale 4), the design of such arm support is challenging. This study aims to structurally develop functional and technical design requirements of arm supports for people with DMD Brooke Scale 4. An overview of clinical characteristics and a classification of clinically meaningful activities were derived from data from the Dutch Dystrophinopathy Database and available literature. Based on these, functional and technical design requirements of arm supports were developed and matched to the achievable needs of the user. First, the clinical characteristics of the target population, such as strength, range of motion, and functional ability, are given. Next, clinically relevant activities of daily living are translated to functional requirements categorised in a 'must,' 'should,' and 'could' category. Last, the technical requirements to realise these functional goals are presented. The recommendations following from the functional user needs, technical requirements, and safety considerations can be used to make the development of assistive arm supports for people with DMD Brooke Scale 4 more user-centred.

Usability study of a smartphone app entitled: Living with Parkinson’s disease

BackgroundMobile healthcare apps have transformed the healthcare industry and these apps can now be used for educational and preventive purposes, as well as providing valuable information for self-care. Apps related to Parkinson's disease can help from diagnoses to treatment, however the purpose of the app in this study is to inform and to educate. ObjectiveTo describe user appraisal of the refinement of a Parkinson's Disease app through a technical evaluation by researchers in the technological area of Human-computer Interaction HCI and usability from the perspective of the end user. MethodsTechnological development research of heuristic evaluation and user experience study carried out for usability testing, where the profile of users were surveyed and usability was evaluated by HCI researchers and end users. ResultsParkinsonians with a recent diagnosis showed the greatest interest in the app. The final version of the app was ready after modifications proposed by experts and users. The app achieved an excellent usability rating, when rated on the Brooke scale in regard to user evaluation. ConclusionStructured strategies to promote greater adherence contribute to increased usability, and may allow for greater autonomy in care and early identification of symptoms.

Circulating Nrf2, Glutathione, and Malondialdehyde Correlate with Disease Severity in Duchenne Muscular Dystrophy.

Oxidative stress (OS) plays an essential role in the pathophysiology of Duchenne muscular dystrophy (DMD). However, the actors that regulate OS need to be better studied. We aimed to evaluate whether NFE2-like bZIP transcription factor 2 (Nrf2), glutathione, malondialdehyde (MDA), and protein carbonyl concentrations change according to the disease severity in DMD patients. Moreover, we assessed whether OS correlated with muscle injury, clinical characteristics, physical activity, and antioxidant food consumption (AFC). A total of 28 DMD patients participated in this study. OS markers, metabolic indicators, and enzymatic markers of muscle injury were measured in circulation. Muscle injury was measured with clinical scales, and physical activity and AFC were evaluated with questionnaires. Nrf2 concentration was lower (p ≤ 0.01), and malondialdehyde concentration was higher (p < 0.05) in non-ambulatory patients than in ambulatory patients. Nrf2 correlated with age (rho = -0.387), Vignos scale (rho = -0.328), GMFCS scale (rho = -0.399), and Brooke scale scores (rho = -0.371) (p < 0.05). MDA correlated with Vignos (rho = 0.317) and Brooke scale scores (rho = 0.414) (p ≤ 0.05). In conclusion, DMD patients with the worst muscle function had more significant oxidative damage and lower antioxidant function than DMD patients with better muscle function.

VP.25 Muscle MRI in female carriers of Duchenne muscular dystrophy

Muscle magnetic resonance imaging (mMRI) has been proved to be a reliable biomarker of disease severity and progression in patients with Duchenne and Becker muscular dystrophy (DMD/BMD). Although up to 20% of female carriers of DMD/BMD experienced symptoms, there is a paucity of data on mMRI in this patient group. Here, we report a case of a female DMD carrier who had mild clinical symptoms, yet mMRI revealed striking fatty infiltration. A 58-year-old female DMD carrier initially presented in 2020 with a 3-year history of slowly progressive symmetric pelvic girdle weakness since age 53. She was known to be a female DMD carrier at age 26 by linkage analysis, when her brother lost ambulation at age 10 and deceased at age 21 due to cardiopulmonary dysfunction. Subsequently, genetic testing of this patient and her mother both demonstrated deletion of exons 51-55 of the dystrophin gene. X inactivation study was not informative as the patient is homozygous for the polymorphic androgen receptor gene locus analyzed. On exam, the patient has normal muscle strength and a normal walking gait, but slight stepping to ascend steps, jump and hop. Brooke scale and functional Mobility Score were 1. Timed function test remained relatively stable over a time span of 22 months. mMRI of her pelvic and thigh muscles was performed to evaluate the progression of a dystrophic process. There was no significant edema in the musculature of the pelvis and thighs. However, there was striking fatty infiltration in multiple muscle groups, including glutei, adductors, hamstrings, as well as vastus lateralis and intermedius. This case of symptomatic female carrier suggests a possible clinical-radiological mismatch phenomenon in manifesting female carriers of DMD. Further study is indicated to understand the clinical implications of this observation.

Functional level and its relationship to upper extremity function, pain, and muscle stiffness in children with Duchenne muscular dystrophy.

The progressive symptoms of Duchenne muscular dystrophy (DMD) negatively affect upper extremity skills, and this may have an effect that reduces the independence of daily life. The purpose of this study is to investigate the relationship between functional level and upper extremity function, pain, and stiffness in children with DMD. A total of 38 children with DMD were participated. The functional level of the upper and lower extremities was assessed using Brooke scale and Vignos scale. Upper extremity function, pain and stiffness were assessed using Upper Limb Short Questionnaire (ULSQ). The correlation between ULSQ and Brooke and Vignos scales was calculated. A moderate positive correlation was calculated between ULSQ total scores and Vignos scale (r = 0.52, p < 0.001) and Brooke scale (r = 0.65, p < 0.001). There was a moderate positive correlation between Vignos scale scores and ULSQ subscores of function (r = 0.42, p < 0.05) and stiffness (r = 0.56, p < 0.001); no significant correlation was found between pain scores and Vignos scale (p = 0.053). There was a moderate positive correlation between the function (r = 0.54, p < 0.001), pain (r = 0.40, p < 0.05), and stiffness (r = 0.62, p < 0.001) subscores of the ULSQ with the Brooke scale. In our study, there was a significant relationship between the functional level of patients with DMD and upper extremity function, pain, and muscle stiffness.

Genetic modifiers of upper limb function in Duchenne muscular dystrophy

Genetic modifiers of Duchenne muscular dystrophy (DMD) are variants located in genes different from the disease-causing gene DMD, but associated with differences in disease onset, progression, or response to treatment. Modifiers described so far have been tested mainly for associations with ambulatory function, while their effect on upper limb function, which is especially relevant for quality of life and independence in non-ambulatory patients, is unknown. We tested genotypes at several known modifier loci (SPP1, LTBP4, CD40, ACTN3) for association with Performance Upper Limb version 1.2 score in an Italian multicenter cohort, and with Brooke scale score in the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS), using generalized estimating equation (GEE) models of longitudinally collected data, with age and glucocorticoid treatment as covariates. CD40 rs1883832, previously linked to earlier loss of ambulation, emerged as a modifier of upper limb function, negatively affecting shoulder and distal domains of PUL (p = 0.023 and 0.018, respectively) in the Italian cohort, as well as of Brooke score (p = 0.018) in the CINRG-DNHS. These findings will be useful for the design and interpretation of clinical trials in DMD, especially for non-ambulatory populations.

An Exploratory Study on Physical Function in Stem Cell Transplant Patients Undergoing Corticosteroid Treatment for Acute Graft-Versus-Host-Disease.

Acute graft-versus-host disease after allogeneic hematopoietic stem cell transplantation is treated with corticosteroids, placing patients at risk for steroid myopathy. In this single-arm cohort study, 23 patients who were started on high-dose corticosteroids for acute graft-versus-host disease underwent a series of functional tests (baseline and days 14, 28, and 56): 6-min walk test, hip flexor and knee extensor strength via dynamometry, five times sit-to-stand, Brooke scale for myopathy, modified Adult Myopathy Assessment Tool, and manual muscle testing. Participants were prescribed home exercises including walking and resistance exercises, with low adherence. Fifteen (63%) participants were male and median (range) age was 60 (36-70) yrs. Median (range) corticosteroid duration and cumulative equivalent methylprednisolone dose were 66 (22-165) days and 3625 (1020-11720) mg, respectively. At day 14, there was a significant decline in five times sit-to-stand (P = 0.0132), knee extensor (P = 0.0182), and manual muscle testing (P = 0.0466). Functional tests negatively associated with cumulative corticosteroid dose included 6-min walk test distance (P = 0.0103), hip flexor strength (P = 0.0262), knee extensor strength (P = 0.0369), and manual muscle testing strength (P = 0.0319). Five times sit-to-stand was positively associated with corticosteroid dose (P = 0.0003). In conclusion, stem cell transplant patients receiving high-dose corticosteroids for acute graft-versus-host disease are at risk for weakness detected as early as day 14. Increasing adherence to exercise may mitigate these changes.

Reliability and validity of upper limb short questionnaire for Duchenne muscular dystrophy

Purpose In patients with Duchenne muscular dystrophy (DMD), weakness of the upper limb (UL) muscles has a significant impact on daily activities and body functions. This problem necessitates a screening tool that can be used quickly and easily in clinical situations, such as the Upper Limb Short Questionnaire (ULSQ). However, its validity and reliability as a clinical measure have not yet been evaluated. Materials and methods The ULSQ was initially administered in face-to-face interviews, and then by telephone four weeks later. Lower limb and UL body functions were assessed by the Vignos and modified Brooke scales, respectively. Results A total of 160 patients participated in the initial ULSQ interview; 132 patients completed the follow-up interview. Construct validity was confirmed by exploratory and subsequent confirmatory factor analyses. The UL function component sum score correlated with the modified Brooke scale score (Kendall’s Tau 0.64, p < 0.001). The total and component (UL function, pain, and stiffness) sum scores were higher in non-ambulators than in ambulators. The reliability was acceptable, as determined by internal consistency and test-retest agreement. Conclusion The ULSQ is a valid and reliable measurement tool for screening UL function, pain, and stiffness in patients with DMD in clinical settings. IMPLICATIONS FOR REHABILITATION The Upper Limb Short Questionnaire (ULSQ) for patients with Duchenne muscular dystrophy (DMD) can be easily used in clinical settings. The ULSQ comprises 14 items that assess upper limb function, pain, and stiffness in patients with DMD and is a valid and reliable assessment tool for screening purposes. The sum score of the upper limb function component (ULSQ 1–5; 1 point per item) could be used to measure activity limitations.

Transcultural adaptation and validation of the Spanish-language version of ACTIVLIM in adults with inherited myopathies using the Rasch model

IntroductionACTIVLIM is an instrument for the measurement of activity limitations in patients with neuromuscular disorders. The aim of this study is to establish a transcultural adaptation and psychometric validation of the Spanish-language version of ACTIVLIM in a sample of Spanish patients with inherited myopathies. Patients and methodA Spanish-language version of ACTIVLIM was developed using the translation/back translation method. The questionnaire was administered to 135 patients with inherited myopathies. The psychometric properties of the questionnaire were assessed using the Rasch model. Floor and ceiling effects were estimated. Unidimensionality was evaluated with a principal component analysis of the residuals of the model, and using infit and outfit statistics. We estimated reliability with the person separation reliability index and invariance with differential item functioning. External construct validity was tested through correlation with the Brooke scale, the Vignos scale, the Functional Independence Measure scale, and floor-to-stand time. Test–retest reliability was evaluated with the intraclass correlation coefficient and differential item functioning. ResultsThe psychometric analysis of the Spanish-language version of ACTIVLIM demonstrated that floor effect was absent, although a modest ceiling effect was identified. The instrument displayed unidimensionality, good internal consistency, external construct validity, and good test–retest reliability. ConclusionThe Spanish-language version of ACTIVLIM is a valid and reliable measurement instrument for assessing activity limitations in patients with inherited myopathies.

Monitoring daily physical activity of upper extremity in young and adolescent boys with Duchenne muscular dystrophy: A pilot study.

Accelerometry of the upper extremity (UE) potentially provides information on the extent of activities in daily life in patients with Duchenne muscular dystrophy (DMD). The objective of this study is to evaluate the validity of home measurements of UE accelerometry. This was a cross-sectional study in 16 patients with DMD (aged 7-17 years). Patients were monitored for 1 to 3 days with two accelerometers on the UE and one accelerometer on the wheelchair. The mean intensity of activity and the mean frequency of transfers of arm elevation from low to middle were approximately twofold higher in patients with a Brooke scale score of 1 or 2 than in patients with a Brooke scale score of 3 or 4. Correlations with the Performance of Upper Limb scale score were high for intensity and for the total frequency of arm elevations per hour. Intensity, percentage of time in middle orientation, and frequency of transfers of the upper arm correlated well with functional measurements.

EP.88Development of clinical trial simulation tool for Duchenne muscular dystrophy through the Duchenne Regulatory Science Consortium

Developing clinical trial protocols that give definitive answers as to whether potential new therapies are effective for rare diseases is challenging due to the small population sizes, limitations on availability of natural history data and limited understanding of disease progression. In Duchenne muscular dystrophy (DMD) this has contributed to few trials meeting primary endpoints, and led to questions as to how best to evaluate efficacy of therapeutic candidates. The Duchenne Regulatory Science Consortium (D-RSC) is a public-private-partnership that aims to develop quantitative tools to accelerate drug development and seeks approval of such tools through regulatory pathways at FDA (Food and Drug Administration) and EMA (European Medicines Authority) to confirm utility and value. D-RSC is developing a multivariate model-based clinical trial simulation (CTS) tool, based on longitudinal models of endpoints that span the course of disease (velocity of completion of supine to stand test, 4-stair climb test, and 10-meter walk/run test, NorthStar Ambulatory Assessment, forced vital capacity and Brooke scale). Models include covariates that predict differences in DMD progression such as use of steroids, height, weight, genetics and baseline function. D-RSC has integrated data from 14 independent studies using CDISC standards, the largest DMD clinical database currently available. The final analysis data set after exclusions, excluding missing observations, includes 1139 individuals with a total of 24210 observations of the endpoints from 4 to 34 years of age. The CTS tool that will be developed based on the disease progression models will help drug developers determine optimal clinical study characteristics, including selection of endpoints, inclusion criteria, trial design, size and duration. This will allow development of trial protocols using the lowest number of patients and in the least time possible to reach conclusive decisions on drug efficacy.

Don\u2019t forget the trunk in Duchenne muscular dystrophy patients: more muscle weakness and compensation than expected

BackgroundPerforming daily activities independently becomes more difficult in time for patients with Duchenne muscular dystrophy (DMD) due to muscle weakness. When performing seated daily activities, the trunk plays an indispensable role besides the upper extremities. However, knowledge is lacking on the interaction between trunk and upper extremities. Therefore the aim was to investigate whether patients with DMD use trunk movement to compensate for reduced arm function when performing seated tasks, and whether this is related to increased muscle activity.MethodsEighteen boys with DMD and twenty-five healthy controls (HC) performed several tasks when sitting unsupported, like reaching (and placing) forward and sideward, drinking and displacing a dinner plate. Maximum joint torque and maximum surface electromyography (sEMG) were measured during maximum voluntary isometric contractions. Three-dimensional movements and normalized sEMG when performing tasks were analyzed.ResultsSignificantly decreased maximum joint torque was found in DMD patients compared to HC. Trunk and shoulder torques were already decreased in early disease stages. However, only maximum trunk rotation and shoulder abduction torque showed a significant association with Brooke scale. In all reaching and daily tasks, the range of motion in lateral bending and/or flexion-extension was significantly larger in DMD patients compared to HC. The trunk movements did not significantly increase with task difficulty (e.g. increasing object weight) or Brooke scale. Normalized muscle activity was significantly higher in DMD patients for all tasks and muscles.ConclusionsBoys with DMD use increased trunk movements to compensate for reduced arm function, even when performing relatively simple tasks. This was combined with significantly increased normalized muscle activity. Clinicians should take the trunk into account when assessing function and for intervention development, because DMD patients may appear to have a good trunk function, but percentage of muscle capacity used to perform tasks is increased.

Unraveling upper extremity performance in Duchenne muscular dystrophy: A biophysical model

This study aimed to identify critical physiological outcome variables underlying reduced upper extremity task performance in Duchenne muscular dystrophy (DMD). These critical variables were used to propose an explanatory biophysical model of the upper extremity working mechanisms in DMD. Twenty-three DMD patients (8–21 years) participated in this study. Correlations with Brooke scale and Performance of Upper Limb (PUL) score were very high for maximal active joint angle, high for maximal muscle torque and maximal surface electromyography amplitude, and moderate for mean echogenicity and maximal passive joint angle. Multivariable regression analysis showed that maximal active joint angle and maximal muscle torque were significantly associated with Brooke score (R2 = 0.91). Maximal active joint angle, maximal passive joint angle, and maximal muscle torque were significantly associated with PUL score (R2 = 0.94). Based on the most critical physiological outcome variables, we constructed an exploratory biophysical model of the working mechanisms leading to limitations in upper extremity task performance. Better insights in these working mechanisms could support clinical management of upper extremity limitations and facilitate the development of interventions. In addition, the model could form the basis for new multi-layered outcome measures for clinical trials.

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

ObjectiveTo assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.MethodsOne hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. Baseline, 6-month, and 1-year assessments included adapted North Star Ambulatory Assessment (a-NSAA), Motor Function Measure (MFM-20), timed function tests, 6-minute walk test (6MWT), Brooke scale, Jebsen test, manual muscle testing, and hand-held dynamometry. Patients also completed the ACTIVLIM questionnaire. Change in each measure over 6 months and 1 year was calculated and compared between disease severity (ambulant [mild, moderate, or severe based on a-NSAA score] or nonambulant [unable to complete a 10-meter walk]) and clinical diagnosis.ResultsThe functional a-NSAA test was the most sensitive to deterioration for ambulant patients overall. The a-NSAA score was the most sensitive test in the mild and moderate groups, while the 6MWT was most sensitive in the severe group. The 10-meter walk test was the only test showing significant change across all ambulant severity groups. In nonambulant patients, the MFM domain 3, wrist flexion strength, and pinch grip were most sensitive. Progression rates did not differ by clinical diagnosis. Power calculations determined that 46 moderately affected patients are required to determine clinical effectiveness for a hypothetical 1-year clinical trial based on the a-NSAA as a clinical endpoint.ConclusionCertain functional outcome measures can detect changes over 6 months and 1 year in dysferlinopathy and potentially be useful in monitoring progression in clinical trials.ClinicalTrials.gov identifier:NCT01676077.

A New Functional Scale and Ambulatory Functional Classification of Duchenne Muscular Dystrophy: Scale Development and Preliminary Analyses of Reliability and Validity

ObjectiveTo develop a simplified functional scale and classification system to evaluate the functional abilities of patients with Duchenne muscular dystrophy (DMD).MethodsA Comprehensive Functional Scale for DMD (CFSD) was developed using the modified Delphi method. The accompanying Ambulatory Functional Classification System for DMD (AFCSD) was developed based on previously published classification systems.ResultsThe CFSD consists of 21 items and 78 sub-items, assessing body structure and function, activities, and participation. Inter-rater intraclass correlation coefficient values were above 0.7 for 17 items. The overall limits of agreement between the two examiners ranged from -6.21 to 3.11. The Spearman correlation coefficient between the total score on the AFCSD and the Vignos Functional Scale was 0.833, and 0.714 between the total score of the AFCSD and the Brooke scale. Significant negative correlations existed between the total score for each functional level of the AFCSD and each functional grade of the Vignos and Brooke scales. The total scores of the CFSD varied significantly between the functional grades of the Vignos scale, and specific grades of the Brooke scale. For the AFCSD, total scores of the CFSD varied significantly between the functional levels.ConclusionWe have developed a new scale and the associated classification system, to assess the functional ability of children diagnosed with DMD. Preliminary evaluation of the psychometric properties of the functional scale and classification systems indicate sufficient reliability and concurrent validity.

DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS: P.37Upper extremity quantitative muscle ultrasound is related to disease severity in boys with Duchenne muscular dystrophy

With an increasing amount of non-ambulant boys with Duchenne muscular dystrophy (DMD), objective and child-friendly outcome measures are necessary to evaluate upper limb function in boys with DMD. The primary aim of this study was to assess the relation between upper extremity quantitative muscle ultrasound (QMUS) and disease severity in boys with DMD. Additionally, reference values of QMUS were collected in healthy boys and the effect of age on QMUS was compared between healthy boys and boys with DMD. Finally, reliability was assessed in a subgroup of both groups (12 healthy boys and 10 boys with DMD). Echo intensity (EI) and muscle thickness (MT) of the upper limb measured by QMUS were determined in 71 healthy boys and 43 boys with DMD (mean age 12.45 and 12.41 years). Clinical assessments (upper extremity muscle strength (MS), Brooke scale, Performance of upper limb (PUL) and Motor Function Measure Dimension 3 (MFM-D3)) were performed in boys with DMD only. The effect of age on QMUS was assessed using linear regression analysis. The relation between QMUS and clinical assessments was assessed using correlation coefficients. ICC's were constructed to determine inter-rater and test-retest reliability. EI was higher and increased with age in boys with DMD whereas in healthy boys EI was independent of age. MT increased with age in healthy boys whereas age did not influence MT in boys with DMD. A higher EI was related to decreased performance on Brooke scale, PUL and MS of shoulder abductors. A lower MT was related to decreased performance on Brooke scale and MS of shoulder abductors. This study found excellent inter-rater reliability of EI in healthy boys, which is in accordance with previous literature. Poor test-retest reliability of EI was found in both healthy boys and boys with DMD. QMUS of the upper extremity is related to disease severity in boys with DMD. Therefore, this study establishes QMUS of the upper extremity as an objective, relevant outcome measure in DMD which is not influenced by fatigue, verbal understanding or patient cooperation.

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS: P.285Validation of the Brazilian Portuguese version of the motor function measure - short form (MFM-20) for neuromuscular diseases in children from two to seven years old

Neuromuscular disorders (NMD) include a large number of conditions involving muscle weakness. There is a lack of tools to assess motor function in young children with NMD. The Motor Function Measure (MFM-32), validated in Brazil as MFM-P, monitors the severity and progression of motor function in patients with NMD, from six to sixty years old. As this version was not validated in children under six years of age, the authors of the original version, from Pediatric Reeducation Service L'Escale (France), developed the Motor Function Measure - Short Form (MFM-20), designed for children from two to seven years old. The aim of this study was to test the reliability and validity of MFM-20 in Brazilian Portuguese. The translation of MFM-20 was performed by the same researchers that translated MFM-32 in Brazil. After a pretest in a sample of five subjects, the translated version was applied with twenty-six children with NMD. To verify the inter-rater reliability, the Wilcoxon Test compared the scores given within one-week interval and the Student's Test compared the scores given by two physical therapists at the first day. To verify the converging construct validity between MFM-20 and Hammersmith Motor Functional Scale (HMFH), Barthel's Index (BI) and Vignos and Brooke Scale (VBS), as well as the discriminating construct validity between MFM-20 and the Medical Research Council Scale (muscular strength), Pearson correlation tests were applied. Twenty six patients with mean age 4.6 ± 1.5 years old were included in this study, with the following clinical diagnosis: Duchenne muscular dystrophy (n=9), congenital muscular dystrophy (n=5), congenital myopathy (n=6) and type 2 spinal muscular atrophy (n= 6). The reliability analysis demonstrated good reproducibility for intra-rater on the first day (35.8±8.8) and after one week (37.0±9.0); p= 0,050, and good inter-rater reproducibility (examiner 1: 35.8±8.8 and examiner 2: 35.1±9.2). The converging validity analysis demonstrated good correlation between MFM-20 and HMFS, VBS and BI, with correlation coefficients: 0.907, -0.918 and 0.797, respectively. The discriminating validity analysis demostrated positive correlation between MFM-20 and Medical Research Council, with a correlation coefficient 0.873. The Brazilian Portuguese version of MFM-20 showed validity, representing advances for patients in Brazilian's centers.

ACTIVLIM: adaptación transcultural al castellano y validación en adultos con miopatías hereditarias utilizando el modelo Rasch

IntroductionACTIVLIM is an instrument for the measurement of activity limitations in patients with neuromuscular disorders. The aim of this study is to establish a transcultural adaptation and psychometric validation of the Spanish-language version of ACTIVLIM in a sample of Spanish patients with inherited myopathies. Patients and methodA Spanish-language version of ACTIVLIM was developed using the translation/back translation method. The questionnaire was administered to 135 patients with inherited myopathies. The psychometric properties of the questionnaire were assessed using the Rasch model. Floor and ceiling effects were estimated. Unidimensionality was evaluated with a principal component analysis of the residuals of the model, and using infit and outfit statistics. We estimated reliability with the person separation reliability index and invariance with differential item functioning. External construct validity was tested through correlation with the Brooke scale, the Vignos scale, the Functional Independence Measure scale, and floor-to-stand time. Test-retest reliability was evaluated with the intraclass correlation coefficient and differential item functioning. ResultsThe psychometric analysis of the Spanish-language version of ACTIVLIM demonstrated that floor effect was absent, although a modest ceiling effect was identified. The instrument displayed unidimensionality, good internal consistency, external construct validity, and good test-retest reliability. ConclusionThe Spanish-language version of ACTIVLIM is a valid and reliable measurement nstrument for assessing activity limitations in patients with inherited myopathies.