Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy.

This study aims to investigate intra-rater reliability and construct validity of the Facioscapulohumeral Dystrophy Composite Outcome Measure (FSHD-COM), in childhood FSHD. Participants included eighteen children with FSHD, and matched healthy controls. Reliability data were collected from 15 participants with FSHD over two testing sessions. Validity data were collected from all participants. Participants with FSHD completed; the FSHD-COM (and modified pediatric version), Motor Function Measure-32 (MFM-32), FSHD Severity Scales, Performance of the Upper Limb 2.0, Pediatric Quality of Life™ Neuromuscular Module and pediatric FSHD Health-Index Questionnaire. Both versions of the FSHD-COM showed excellent intra-rater reliability (ICC1,2 > 0.99, lower 95%CI > 0.98) with a Minimal Detectable Change (MDC95%) of ≤14.5%. The FSHD-COM had robust and widespread correlations with other related outcome measures. The FSHD-COM versions and 6 min walk test effectively discriminated between children with and without FSHD; the MFM-32 and 10 m walk/run test did not. Ceiling effects were not observed on either version of the FSHD-COM. Reliability and validity findings in this childhood FSHD study concord with estimates in adults. Both versions of the FSHD-COM were effective in discriminating disease in children with mild FSHD symptoms. The FSHD-COM has the potential to be a useful measure of function across the life span.

Measurement properties and utility of performance-based outcome measures of physical functioning in individuals with facioscapulohumeral dystrophy - A systematic review and evidence synthesis.

Access to reliable, valid, accurate and responsive outcome measures is essential to ensure standards of care and clinical trial readiness in facioscapulohumeral dystrophy. Review aims: 1. identify and provide a descriptive summary of all outcome measures used to measure physical function. 2. systematically appraise the evidence on measurement properties (reliability, construct validity, measurement error and responsiveness) of performance-based outcome measures of physical function in individuals diagnosed with facioscapulohumeral dystrophy. Selected electronic health-related databases were searched from inception - Feb 2019. Two authors independently screened studies for eligibility and extracted data for psychometric evidence. The methodological quality of outcome measure studies was appraised using the consensus-based standards for the selection of health measurement instruments (COSMIN) checklist. Of 12 identified outcome measures, four required high-technology equipment. Only three were FSHD specific. The FSH-clinical score had 'moderate' quality positive evidence for reliability. The remaining measures had 'low' to 'very low' quality evidence supporting properties of reliability, validity, responsiveness and measurement error. Identified studies tended towards low recruitment in middle-aged, ambulant individuals making results hard to generalise across lifespan and levels of severity. There is a paucity of measurement evidence supporting the use of outcome measures in people with facioscapulohumeral dystrophy.

Walking deterioration and gait analysis in adults with spastic bilateral cerebral palsy.

Walking deterioration occurs frequently in adults with spastic bilateral cerebral palsy (CP), but their gait characteristics are largely unknown. The study aims were (1) to compare selected gait analysis variables between those reporting and those not reporting walking deterioration, and (2) to characterise the overall gait deviations and classify the gait patterns. Participants (N=16) were recruited from a follow-up study, had spastic bilateral CP, <40 years in 2006, GMFCS levels I-III, and could walk at least 10 m without support. Eight reported walking deterioration (cases) and eight did not (controls). A theoretical framework linking work of walking, fatigue and deterioration in walking was developed. It was hypothesised that higher energy requirements during gait and larger gait deviations would be associated with deterioration in walking. Three-dimensional gait analysis was used to obtain centre of mass work, mechanical joint work, lower limb kinematics, movement analysis profile (MAP), and gait profile scores (GPS). There were no differences between the cases and controls in centre of mass work, joint work, or in the GPS. The largest MAP deviations were seen in sagittal pelvis, hip, and knee angles and foot progression. Crouch and asymmetric gait were common patterns. Walking deterioration could not be explained by these work and kinematic variables. An individual's perception of deterioration in walking is subjective, and may be experienced and interpreted differently across people. Larger, longitudinal studies on the natural history of walking in spastic CP are needed. Qualitative studies on the subjective experiences of walking deterioration are also warranted.

Rural living and health-related quality of life in Australians with Parkinson's disease.

INTRODUCTION: The motor and non-motor symptoms associated with idiopathic Parkinson's disease (PD) may compromise the health-related quality of life (HRQOL) of some individuals living with this debilitating condition. Although growing evidence suggests that PD may be more prevalent in rural communities, there is little information about the life quality of these individuals. This study examines whether HRQOL ratings vary in relation to rural and metropolitan life settings. METHODS: An analytic cross-sectional study was conducted to compare the HRQOL of two separate samples of people with PD living in metropolitan Melbourne and rural Victoria. The metropolitan sample consisted of 210 individuals who had participated in the baseline assessment for an existing clinical trial. The rural sample comprised 24 participants who attended community-based rehabilitation programs and support groups in rural Victoria. Health-related quality of life was quantified using the Parkinson's Disease Questionnaire-39 (PDQ-39). RESULTS: The HRQOL of participants in rural Australia differed from individuals living in a large metropolitan city (p=0.025). Participants in rural Australia reported worse overall HRQOL, after controlling for differences in disease duration. Their overall HRQOL was lower than for city dwellers. Rural living was also found to be a significant negative predictor of HRQOL (ß=0.14; 95% CI -1.27 to -0.08; p=0.027). CONCLUSION: The findings of this study suggest that some people with PD living in rural Victoria perceive their HRQOL to be relatively poor. In order to minimise the debilitating consequences of this disease, further studies examining the factors that may contribute to the HRQOL of individuals living in rural and remote areas are required.

Risk of falls in older people during fast-walking--the TASCOG study.

AIMS: To investigate the relationship between fast-walking and falls in older people. METHODS: Individuals aged 60-86 years were randomly selected from the electoral roll (n=176). Gait speed, step length, cadence and a walk ratio were recorded during preferred- and fast-walking using an instrumented walkway. Falls were recorded prospectively over 12 months. Log multinomial regression was used to estimate the relative risk of single and multiple falls associated with gait variables during fast-walking and change between preferred- and fast-walking. Covariates included age, sex, mood, physical activity, sensorimotor and cognitive measures. RESULTS: The risk of multiple falls was increased for those with a smaller walk ratio (shorter steps, faster cadence) during fast-walking (RR 0.92, CI 0.87, 0.97) and greater reduction in the walk ratio (smaller increase in step length, larger increase in cadence) when changing to fast-walking (RR 0.73, CI 0.63, 0.85). These gait patterns were associated with poorer physiological and cognitive function (p<0.05). A higher risk of multiple falls was also seen for those in the fastest quarter of gait speed (p=0.01) at fast-walking. A trend for better reaction time, balance, memory and physical activity for higher categories of gait speed was stronger for fallers than non-fallers (p<0.05). CONCLUSION: Tests of fast-walking may be useful in identifying older individuals at risk of multiple falls. There may be two distinct groups at risk--the frail person with short shuffling steps, and the healthy person exposed to greater risk.

Gait adaptation during obstacle crossing reveals impairments in the visual control of locomotion in Williams syndrome.

Recent evidence indicates that individuals with Williams syndrome (WS), a rare genetically based neurodevelopmental disorder, show abnormalities of parietal and cerebellar regions of the brain that may be involved in the visual control of locomotion. Here we examined whether parietal and cerebellar abnormalities contribute to deficits in spatiotemporal characteristics and foot placement variability during obstacle crossing in adults with WS, when compared with an IQ-matched group of adults with Down syndrome (DS) and typically developing adult controls. We used the GAITRite walkway to examine the spatiotemporal characteristics and foot placement variability relative to a small ground-based obstacle in the travel path. We found that adults with WS showed late adjustments to spatiotemporal gait characteristics alongside an exaggerated and more spatially constrained visual guidance of foot positioning in the final steps prior to stepping over the obstacle. In contrast, the adults with DS showed longer step duration and more variable step length and step duration during the crossing and recovery steps after the obstacle, suggestive of cerebellar dysfunction. Although the controls were able to reduce the variability of foot placement across the obstacle crossing trials, both the WS and DS groups did not become more consistent with practice. These findings indicate a less flexible and overly constrained visuomotor system in WS, which is consistent with more widespread and diffuse abnormalities in parietal and cerebellar regions.

Endocrine therapies for BPH: scientific rationale, clinical results, and patient selection.

In 1993, medical therapy for BPH is a reality. Androgen deprivation therapy (LHRH agonists, antiandrogens, and 5 alpha-reductase inhibitors) has been shown to be effective by reducing the static component of BPH. Of these agents, the 5 alpha-reductase inhibitors have the greatest promise because of their low toxicity profile. Aromatase inhibitors, which function via a different mechanism, however, have not been demonstrated, as monotherapy, to be effective in the treatment of symptomatic BPH. It is still theoretically possible that aromatase inhibitors could have a role in the management of prostatism if they are utilized in conjunction with an antiandrogen or 5 alpha-reductase inhibitor. Although the early results for this endocrine therapies are encouraging, several issues relating to medical treatment remain unanswered. Not everyone with significant prostatism will respond to androgen deprivation therapy. How does the physician identify pre-treatment the patient most likely to achieve a significant improvement in voiding function with 5 alpha-reductase inhibitor therapy? At the present time, there is no method--based on symptoms, DRE findings, serum hormone and PSA levels, or histopathologic criteria--for recognizing the ideal patient for androgen deprivation therapy. Without question, it is a subjective decision. As a result, the benefits and risks of these medical approaches as well as those of the minimally invasive and surgical therapies must be discussed with the patient so that he can participate in the management decision. In this manner, the expectations and needs of the patient will be best served.