Functional Activity Scale Research Articles

Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients.

Studies on the natural disease progression of detailed motor dysfunction in patients with GNE myopathy are rare. This study aimed to investigate motor function involvement during disease progression and its relationship with the genotype among Chinese patients with GNE myopathy. This retrospective observational cohort study included all patients with genetically confirmed GNE myopathy enrolled at Peking University First Hospital between 2000 and 2023. Patients with GNE myopathy were stratified into 2 subgroups based on with or without p.D207V mutation. Data on clinically significant muscular problems were collected from patients' medical history and follow-up assessments to evaluate motor function using the GNE Myopathy Functional Activity Scale and the modified Rankin Scale. Eighty-three patients with GNE myopathy were included, with a median age at examination of 36 years (range 25-57) and a median age at onset (AAO) of 26 years (range 16-46). The Kaplan-Meier curves revealed that patients with the p.D207V mutation experienced a significantly later AAO (27 years [95% CI 25-29]) and onset age of wheelchair dependency (50 years [95% CI 46-54]) compared with those without the mutation, who had an AAO of 24 years (95% CI 22-26) and an onset age of wheelchair dependency of 45 years (95% CI 36-54). Multivariate Cox regression analysis, adjusted for sex and disease duration, revealed that patients without the p.D207V mutation had a higher risk of wheelchair dependency, with an adjusted hazard ratio of 2.361 (95% CI 1.030-5.411). Barthel indexes (BIs) were negatively correlated with the disease duration and positively correlated with AAOs. Patients with GNE with earlier AAO exhibited a shorter disease duration of developing functional dependency (BIs <60) than did those with later AAOs. Our results provide insights into the motor function involvement observed during disease progression in Chinese patients with GNE myopathy, and relatively mild disease severity was observed in those with the p.D207V mutation.

The Effect of Physical Therapy on Somatosensory Tinnitus.

Objective: The objective of this work was to assess the effect of physical therapy in patients with somatosensory tinnitus (ST) and explore the influence of physical therapy on clinical variables obtained before treatment. Methods: A total of 43 patients with ST were randomized to the immediate-start group (n = 20) and delayed-start group (n = 23). All patients received physical therapy for 1 week (seven sessions). Each session lasted 60 min. The Visual Analogue Scale (VAS), Tinnitus Handicap Inventory (THI), and numerical pain rating scale (NPRS) scores were documented at baseline and after treatment (week 1) for all patients. For subjects in the immediate-start group, the THI, VAS, and NPRS scores were measured after therapy (weeks 6, 9, and 12, respectively). Medical history characteristic functional activity scale (HCFA) scores were measured at baseline to assess the association between somatic symptoms and tinnitus. Results: At week 1, VAS, THI, and NPRS scores of patients in the immediate-start group were improved by 1.25 ± 1.59, 11.10 ± 15.10, and 0.95 ± 1.54 points, respectively, and were significantly higher than those in the delayed-start group (p < 0.05). The change in VAS, THI, and NPRS scores in the treatment group was significantly positively correlated with the scores of the HCFA before treatment (r = 0.786, p < 0.001; r = 0.680, p = 0.001; r = 0.796, p < 0.001). There was no significant difference in THI, VAS, and NPRS scores among patients in the immediate-start group between weeks 1, 6, 9, and 12 after treatment (p > 0.05). Conclusions: Although more participants were necessary in the further study, the study implies that physical therapy can reduce physical pain, improve tinnitus symptoms, and quality of life in ST patients without hearing loss, and the short-term curative effect is stable, especially for tinnitus patients with clear somatic symptoms.

Comparison of Analgesic Effects and Adverse Events of Hydromorphone PCIA Versus Sufentanil PCIA: A Retrospective Analysis

PurposeThe aim of this study was to compare the analgesic effect and adverse events of hydromorphone patient-controlled intravenous analgesia (PCIA) without background dose versus sufentanil PCIA with background dose in patients after surgery. DesignA retrospective analysis. MethodsFrom June 2020 to May 2021, 1594 eligible postoperative patients who received PCIA were collected in this study. According to the types of opioids, patients were divided into two groups: sufentanil group and hydromorphone group. Numerical Rating Scale (NRS), Functional Activity Scale (FAS) and Level of Sedation (LOS) were used to evaluate the analgesic effects between the two groups. In addition, total PCA use, effective number of PCA compressions, and adverse effects of PCIA were compared between the two groups. FindingsAt 24 hours (h) after sugery, the FAS score in the sufentanil group was higher than that in the hydromorphone group (P<0.05). Compared with the sufentanil group, total PCA use, total number of PCA compressions and effective number of PCA consumptions were significantly decreased in the hydromorphone group during a 48h period (P < 0.05). There were no statistical differences in NRS score, LOS score and adverse events between two groups at 24h and 48h after surgery. ConclusionsCompared with sufentanil PCIA with background dose, under the similar analgesic effect, hydromorphone PCIA without background dose provided lower PCA use. Our findings may provide useful evidence for more future studies related to postoperative analgesia.

Efficacy of Intraarticular Knee Injection of PRP (Platelet Rich Plasma) vs Steroid (Triamcinolone Acetate) for the Treatment of Primary Knee Osteoarthritis Grade I &amp; II

Objective: To assess the effectiveness of PRP (Platelet Rich Plasma), and to compare with Triamcinolone 40mg (Steroid) on functional activity, stiffness and pain in Grade I &amp; II Knee OA. Method: A comparative cross sectional study was conducted at outdoor departments of Advanced Pain Relief Center, Lifeline Hospital Lahore (Pakistan) from January 2022 to December 2022. The present study included a total of 235 participants, out of whom 190 individuals were deemed eligible for inclusion based on predetermined criteria. The remaining 45 participants were excluded from the study due to non-adherence to eligibility criteria and lack of approval from institutional ethical committee. Out of a total of 190 subjects enrolled in the study, 64 (33%) were characterized as male while 126 (67%) were classified as female. The participants' mean age was 53.5 ± 6.4 years. Alternative patients were treated with intra-articular injection of either triamcinolone 40mg or PRP. Patients randomized in Steroid group (n=95) were gives intraarticular 40mg Triamcinolone acetate (1ml) along with 2ml of Local anaesthetic Lignocaine 1%, whereas patients randomized in PRP group (n=95) were injected 5ml PRP. “The Western Ontario and McMaster Universities Arthritis Index” (WOMAC) Scale was used for functional disability and pain before and after the therapy for the targeted knee joint at the baseline 1 week, 5 weeks, 8 weeks and 20 weeks follow-ups. Visual Analogue Scale (VAS) scores were also recorded for pain. Data analysis was done by using SPSS version 20. Results: There wasn't any serious adverse effect observed during the study and follow-ups. 25 WOMAC functional activity scale showed statistically significant improvement with Intraarticular knee injection of PRP compared to steroids(40.64±1.87vs.27.17±6.01)(p=0.000). WOMACpainscaleresultsalsodemonstrated that intraarticular knee injection of PRP was more effective in reducing knee pain than steroids (p = 0.000) at 20 weeks follow-up. Conclusion: On the basis of the results of our study, we concluded that platelet rich plasma is more effective than intra-articular steroids in terms of improvement in functional activity and reduction of pain in patients with Grade I &amp; II knee osteoarthritis. Both PRPand steroid intraarticular injections are safe.

Poster 347: PSYCHOLOGICAL READINESS AFTER REVISION ACL RECONSTRUCTION: A ROAR STUDY

Objectives: Background: Revision ACL reconstruction (ACLR) has demonstrated worse functional outcomes and higher reinjury rates in young patients. Psychological associations with revision surgery have not previously been evaluated. Purpose: To investigate levels of psychological readiness and psychological stress in young patients after revision ACLR Methods: Patients, ages 10-35, were enrolled who underwent revision ACLR at one center by one of six surgeons. Psychological readiness and psychological stress was assessed 6-months post- operatively with the Anterior Cruciate Ligament Return to Sport After Injury (ACL-RSI) and PROMIS- Psychological Stress Experiences (PROMIS-PSE), respectively. The International Knee Documentation Committee (IKDC/Pedi-IKDC), and Hospital for Special Surgery Pediatric Functional Activity Scale (HSS Pedi-FABS) were also collected. Patient reported outcomes of revision ACLR patients were compared to a cohort of primary ACLR patients. Propensity score matching 3:1 was performed for age, sex, and graft type. Results: Matching resulted in 81 ACLR patients (57 primary and 24 revision). Mean age in the revision group was 18.6 ± 3.2 (66.7% female). The most common graft type in both the primary and revision group was BTB (65% and 67%, respectively) (Table 1). Mild negative correlation was detected between IKDC and PROMIS PSE (r=-0.31; 95% CI=-0.49, -0.10; p=0.005) and a moderate positive correlation was detected between IKDC and ACL-RSI scores (r=0.56; 95% CI=0.39, 0.70; p&lt;0.001). Revision ACLR patients had lower psychological readiness scores (47 vs. 64, p=0.004) and lower IKDC/Pedi-IKDC scores (72 vs 78, p=0.05), compared to primary ACLR patients. Revision ACLR patients also had longer return to sports clearance compared to primary ACLR (median, 10 months vs 8 months; p=0.02). Regression analysis showed revision patients could expect a 15-point decrease in ACL RSI scores compared to patients who underwent primary ACLR surgery (95% CI=-25.30, -4.21; p=0.007). Furthermore, revision patients also could expect a 1.4 month longer return to sports clearance date compared to primary ACLR patients (95% CI=0.29, 2.60; p=0.01). No differences were noted in Pedi- FABS or PROMIS-PSE scores between revision and primary patients (Table 2). Conclusions: This study is the first to date to examine psychological readiness to return to sport in young patients after revision ACLR. At 6-months post-surgery, revision ACLR patients had lower psychological readiness scores, inferior knee functional outcomes scores, and delayed return to sport clearance. Greater attention to the psychological aspects of recovery in the revision ACLR setting may be important to help optimize post-operative care and outcomes. [Table: see text][Table: see text]

Consensus on level descriptors for a functional children's eating and drinking activity scale.

To agree wording of level descriptors for a measure of functional outcome of children's eating and drinking. An online, modified Delphi method was used to gather feedback on current level descriptor wording and generate rewording suggestions. Thirty speech and language therapists, working in a variety of settings and geographical locations, were invited to be part of the Delphi expert panel. Content analysis was used to evaluate participants' comments and develop consensus level descriptors. Consensus for acceptable wording was set at 80% agreement. Face validity was assessed using 5-point Likert scales. Nineteen expert speech and language therapists (median experience 18 years) completed round one; 15 out of 19 completed round two. Level descriptor rating reached 80% agreement in two rounds. Additionally, 93% of participants agreed the scale would accurately capture change in their setting, with 87% likely to use the scale in practice. This study has produced agreed wording for a functional measure of eating and drinking activity suitable for use with paediatrics feeding disorders, regardless of disease aetiology, presentation, age, or setting. Potential for widespread use is supported. Further evaluation of the tool's reliability and validity is required.

Recent advances in establishing a cure for GNE myopathy.

GNE myopathy is a rare autosomal recessive disease caused by biallelic variants in the GNE gene, which encodes an enzyme involved in sialic acid biosynthesis. No drugs are approved for the treatment of GNE myopathy. Following proof-of-concept of sialic acid supplementation efficacy in mouse models, multiple clinical trials have been conducted. Here, we review clinical trials of sialic acid supplementation therapies and provide new insights into the additional clinical features of GNE myopathy. Clinical trials of sialic acid supplementation have been conducted in Europe, the USA, Japan, and South Korea. Some clinical trials of NeuAc-extended release tablets demonstrated amelioration of decline in upper extremity muscle strength; however, no significant improvement was observed in phase 3 trials in Europe and USA. A phase 2 trial of ManNAc showed slowed decline of both upper and lower extremity strength. GNE myopathy patient registries have been established in Europe and Japan, and have provided information on extramuscular manifestations such as thrombocytopenia, respiratory dysfunction, and sleep apnea syndrome. Sensitive and reliable biomarkers, and a disease-specific functional activity scale, have also been investigated. We discuss recent advances in establishing a GNE myopathy cure, and discuss other prospective therapeutic options, including gene therapy.

Эффективность реабилитации детей с ортопедическими симптомами при детском церебральном параличе

Cerebral palsy (CP) is the most common cause of early disability worldwide, which determines the significance of the problem for public health. Up to 32% of children with cerebral palsy at the age of 5 do not yet walk. Late diagnosis affects the development of the musculoskeletal system and, as a result, the quality of life of patients. Prevention of orthopedic deformities, timely treatment of concomitant orthopedic manifestations, rehabilitation courses and multidisciplinary care are crucial in the effectiveness of the treatment of these patients. The purpose — to improve the results of conservative treatment of children with cerebral palsy with secondary orthopedic symptoms on the feet and ankle. Material and methods. The article presents a clinical case of the treatment of a patient with orthopedic deformities of the foot and ankle joint against the background of cerebral palsy. After examination, the diagnosis was made: cerebral palsy, spastic form, hemiplegia of the left lower limb, plano-valgus deformity of the left foot, shortening of the left lower limb by 13 mm (GMFCS 2), neurogenic S-shaped scoliosis of the 2nd degree. Further treatment was divided into stages. At the first stage, the child underwent a course of physiotherapy and the drug tolperisone (Mydocalm) was prescribed. At the second stage, the lower limb was plastered in phase manner. After the removal of the plaster, a second course of physiotherapy was carried out. The last stage was the treatment aimed at correcting the concomitant lesions. Results. The patient underwent a course of combined treatment to restore the function of the lower limb. The assessment of the functional state before and after treatment was carried out according to the functional motor activity scale (FMS). At the last follow-up examination 18 months after the treatment, the FMS score was 6–6–6 points. On the control plate electromyography, no data for recurrence was revealed. Conclusion. Combined rehabilitation treatment of children with cerebral palsy GMFCS 1–2 with repeated courses of rehabilitation is an effective method of treatment.

Development and Validation of a Novel Indicator of Visual Disability in the National Health and Aging Trends Study.

Background and ObjectivesThe National Health and Aging Trends Study (NHATS) is an ongoing, nationally representative panel study of older adults that collects data on health and disability, including measures on self-reported visual disability (SRVD). Prior studies assessing the association of SRVD with other measures of healthy aging have classified participants as having or not having SRVD, which does not capture the full spectrum of SRVD reported by participants. Therefore, we sought to develop and validate an ordinal indicator of SRVD to facilitate research on the impact of late-life SRVD on health and disability in NHATS.Research Design and MethodsWe used 2015 NHATS data with community-dwelling participants who answered survey questions about visual functioning and vision aid use. Based on responses, participants were categorized into one of 6 groups: blind, near and distance SRVD without vision aid use, near and distance SRVD with vision aid use, near or distance SRVD without vision aid use, near or distance SRVD with vision aid use, or no SRVD. Multivariable Poisson regression models assessed convergent validity of the ordinal SRVD scale with functional activity and well-being scores, while adjusting for demographic factors and medical comorbidities.ResultsOf the 7061 eligible individuals, 8.3% (n = 742) reported SRVD. Using our novel ordinal indicator of SRVD in NHATS, higher levels of SRVD were significantly associated with lower functional activity scores (p < .001 for all) and subjective well-being (p < .001), except for participants reporting blindness. Significant differences between SRVD groups were found, which could not be captured using a binary SRVD variable.Discussion and ImplicationsA novel 6-level SRVD scale in NHATS demonstrated convergent validity with functional activity and well-being scales. This scale provides a new tool with improved measurement precision to study the impact of late-life SRVD on health and disability in a nationally representative study of older adults.

Bifocal Patellar Tendon Avulsion Fractures in Children and Adolescents: Diagnosis and Treatment Considerations for a Unique Injury Pattern

PurposeTo highlight important diagnostic and treatment considerations in patients who present with bifocal patellar tendon avulsion fractures from the tibial tubercle and inferior patellar pole.MethodsRadiographic presentation, surgical technique, and complications of 5 children who sustained bifocal patellar tendon avulsion fractures with ≥6 months postoperative follow-up were retrospectively reviewed. Hospital for Special Surgery (HSS) Brief Functional Activity Scale (HSS Pedi-FABS), Patient-Reported Outcomes Measurement Information System (PROMIS) pain interference, PROMIS mobility, and Pediatric International Knee Documentation Committee Scale (Pedi-IKDC) were assessed at most recent follow-up.ResultsFive children (4 boys, 1 girl) presented with bifocal patellar tendon avulsion fractures with a median follow-up of 12.8 months (range 7.7 to 26.4). In 1 case, advanced imaging was not pursued, and the bifocal nature of injury was subsequently discovered intraoperatively. In all other cases, magnetic resonance imaging (MRI) correctly characterized the bifocal injuries and revealed the full extent of fractures and soft tissue injury. Surgical management involved suture anchor repair with heavy nonabsorbable sutures. Postoperative functional and patient-reported outcomes were within the range of population healthy/normative values (for those that were available for comparison, e.g., Pedi-IKDC), and clinically relevant improvement was noted when comparing preoperative and postoperative patient-reported outcome measures of both pain and mobility.ConclusionsAdvanced imaging (e.g., MRI) is required to understand the full extent of injury and should be obtained in the setting of traumatic patella alta to evaluate for the presence of a bifocal lesion and plan surgical intervention accordingly. These patients demonstrate satisfactory functional and patient-reported outcomes after operative repair.Level of EvidenceIV, therapeutic case series.

Dual Effects of Hearing Loss and Dementia on Functional Limitations in Older Adults

Age-related hearing loss (HL) is both common and associated with elevated risk for cognitive decline and poorer health. To care for an aging population, it is critical to understand the effect of coexisting HL and dementia on functional activities. The effect of co-existing dementia and self-reported HL on daily functioning were assessed. A cross-sectional analysis was performed using nationally-representative data from the 2015 National Health and Aging Trends Study consisting of U.S. adults 65+. The sample included 1,829 adults with HL (22.8%) and 5,338 adults without HL. Multivariable Poisson regression was used to model the independent effects and interaction of self-reported HL and dementia status on three validated functional activity scales (self-care, mobility, and household). All analyses adjusted for sociodemographic and medical factors. HL participants were more likely to be white, older, male, less educated (p <0.01). 8.4% had possible dementia and 6.5% had probable dementia. Respondents with HL or possible or probable dementia had significantly lower mobility, self-care, and household activity scores (p<.001 for all comparisons) compared to their peers. A small yet significant interaction was present in all models, suggesting that HL respondents with co-occurring dementia had lower mobility, self-care, and household activity scores than predicted by the independent effects of dementia and self-reported HL (p<.001 for all comparisons). Older adults with co-occurring dementia and HL are at increased risk for poor functioning and should be screened by healthcare providers. Future work should consider the impact of intervention in this vulnerable/at-risk population.

Association of Co-occurring Dementia and Self-reported Visual Impairment With Activity Limitations in Older Adults

The number of older adults with visual impairment (VI) and dementia is projected to increase in the US because of the aging of the population. Dementia and VI commonly co-occur and are each independently associated with disability. To care for an aging population, it may be important to characterize the association of coexisting dementia and self-reported VI on daily functioning. To evaluate the association of co-occurring dementia and self-reported VI on daily functioning. This cross-sectional analysis of a nationally representative cohort study used data from the National Health and Aging Trends Study (NHATS), an annual study of US adults 65 years and older. Participants in the 2015 survey with complete data on outcomes, associated factors, and covariates were included in this study. Data analysis took place from January 2019 to November 2019. Multivariable Poisson regression was used to model the independent associations and interaction of dementia and self-reported VI status on 3 functional activity scales (self-care, mobility, and household activities). Marginal predicted proportions were calculated. Analyses were adjusted for sociodemographic and medical factors and accounted for the complex survey design. A total of 7124 participants were included. The weighted proportion of female respondents was 55.3% (95% CI, 54.0%-56.6%), and 56.1% (95% CI, 54.1%-58.1%) were between 65 and 74 years old. Self-reported VI was present in 8.6% (95% CI, 7.8%-9.3%) of participants, while 8.3% (95% CI, 7.8%-8.9%) had possible dementia and 6.3% (95% CI, 5.7%-6.9%) had probable dementia. Self-reported VI was associated with an expected decrease in mobility score of 14.7% (functional scale scores: no VI, 10.82 vs VI, 9.23), self-care score of 9.5% (no VI, 14.54 vs VI, 13.16), and household activity score of 15.2% (no VI, 18.23 vs VI, 15.45), while probable dementia was associated with expected decreases of 27.8% (no dementia, 10.82 vs probable dementia, 7.81), 22.9% (no dementia, 14.54 vs probable dementia, 11.20), and 34.7% (no dementia, 18.23 vs probable dementia, 11.90), respectively. Among those with probable dementia and self-reported VI, there was an expected decrease in mobility score of 50.1% (functional ability scores: no VI and no dementia, 10.82 vs VI and probable dementia, 5.40), self-care score of 42.4% (no VI and no dementia, 14.54 vs VI and probable dementia, 8.38), and household activity score of 52.4% (no VI and no dementia, 18.23 vs VI and probable dementia, 8.68), suggesting that respondents with co-occurring dementia and self-reported VI had lower functional activity scores than would be associated with the independent contributions of these conditions. Older adults with both dementia and self-reported VI may be at high risk for disability, and their co-occurrence may potentiate this risk. These findings suggest that the growing population of older adults with both visual impairment and dementia may benefit from interventions to maximize vision and cognition and promote functioning and independence.

Composite cognitive and functional measures for early stage Alzheimer's disease trials.

IntroductionComposite scales have been advanced as primary outcomes in early stage Alzheimer's disease trials, and endorsed by the U.S. Food and Drug Administration (FDA) for pivotal trials. They are generally composed of several neurocognitive subscales and may include clinical and functional activity scales.MethodsWe summarized the development of 12 composite scales intended as outcomes for clinical trials and assessed their characteristics.ResultsComposite scales have been constructed from past observational and clinical trial databases by selecting components of individual neuropsychological tests previously used in clinical trials. The atheoretical approaches to combining scales into a composite scale that have often been used risk omitting clinically important measures and so may include redundant, irrelevant, or noncontributory tests. The deliberate combining of neurocognitive scales with functional activity scales provides arbitrary weightings that also may be clinically irrelevant or obscure change in a particular domain. Basic psychometric information is lacking for most of the composites.DiscussionAlthough composite scales are desirable for pivotal clinical trials because they, in principle, provide for a single, primary outcome combining neurocognitive and/or functional domains, they have substantial limitations, including their common derivations, inattention to basic psychometric principles, redundancy, absence of alternate forms, and, arguably, the inclusion of functional measures in some. In effect, any currently used composite is undergoing validation through its use in a trial. The assumption that a composite, by its construction alone, is more likely than an individual measure to detect an effect from any particular drug and that the effect is more clinically relevant or valid has not been demonstrated.

Impact of pediatric inflammatory bowel disease diagnosis on exercise and sports participation: Patient and parent perspectives.

BACKGROUNDInflammatory bowel disease (IBD) may limit physical activity due to intestinal or extraintestinal manifestations, fatigue, or exercise perception. We sought to evaluate the influence of IBD diagnosis on exercise and sports participation in a pediatric population. We compared patient-reported and parent-reported perspectives.AIMTo evaluate the influence of IBD diagnosis on exercise and sports participation in a pediatric population.METHODSConsecutive IBD outpatients (aged 10-18 years) and their parents completed parallel voluntary surveys. A validated, patient-reported functional activity scale, the Hospital for Special Surgery Pediatric Functional Activity Brief Scale (HSS Pedi-FABS) was used to assess children’s activity levels.RESULTSThere were 149 completed surveys (75% response rate) with mean participant age of 16.5 years [standard deviation (SD) = 4.0] and mean age at IBD diagnosis of 11.8 years (SD = 3.4). Most patients (77%) were diagnosed within 12 mo of symptom onset. Current athletic participation was reported in 65% across 65 sports. Participation was greatest before (40%) rather than after (32%) IBD diagnosis, with no reported change in 28%. IBD negatively impacted play/performance in 45% but did not change play/performance in 44%. IBD treatment improved patients’ desire to exercise (70%) and subjective capacity for aerobic exercise (72%). Patients and parents agreed that IBD subjects demonstrate normal capacity for aerobic exercise (0.40, 95%CI: 0.22-0.58) and that treatment improved both participatory desire (0.33, 95%CI: 0.12-0.54) and capacity for aerobic exercise (0.52, 95%CI: 0.31-0.71). Almost all (99%) viewed exercise as healthy, and most encouraged its practice. IBD patients demonstrated normal mean HSS Pedi-FABS scores.CONCLUSIONAfter pediatric IBD diagnosis, most patients continue exercise and sports, with mean activity levels comparable to American youth. Treatment positively impacts participatory desire and aerobic capacity. Patients favor the role of exercise in IBD.

English

Musculoskeletal system disorders (MSDs) are amongst the most commonly encountered problems in orthopaedics and physiotherapy practice all over the world and back pain is amongst the most prevalent of musculoskeletal presentations encountered in clinical practice. The attendant deformities, huge economic loss among many other sequelae on the affected individuals have always informed the search for cost-effective treatment modalities that are non-invasive and are devoid of or at least have minimal side effects. This randomized controlled trial was conducted to assess the therapeutic efficacy of the use of a non-pharmacological device [pulsed electromagnetic field (PEMF)] modality in the treatment of back pain. A total of 16 patients (mean age: 42.82 +/- 8.63 years) with back pain without radiculopathy who met the inclusion criteria were purposively enrolled in the study. Patients were randomly assigned into two groups. Group A had eight patients treated with PEMF plus medications (analgesics, nonsteroidal anti-inflammatory - diclofenac sodium) while the eight patients in group B were treated with only standard medications. The PEMF device was applied in group A four times a day for the period the patients were admitted (maximum of nine days). Measured outcome parameters were reduction in pain as assessed with numeric pain rating scale (NPRS) and improvement in functional ability status as assessed with functional activity scale (FAS). Obtained data were analysed with paired and independent t-test to test the significant efficacy of the treatment outcomes in the two groups. There was a statistically significant faster pain relief and resumption of active functions in patients treated with PEMF plus analgesic compared with the rates exhibited by patients treated with standard analgesics alone. These results suggest that PEMF therapy is beneficial in reducing pain and disability in patients with back pain and should be made part of holistic cape for back pain. Further studies using PEMF on larger patient populations are advocated to further confirm the efficacy of PEMF therapy in back pain management.

Development and preliminary evidence of the psychometric properties of the GNE myopathy functional activity scale.

GNE myopathy, a rare, severe, progressive myopathy, presents with lower extremity distal muscle weakness. The GNE myopathy functional activity scale (GNEM-FAS) evaluates the impact of GNE myopathy on functioning in adults. This paper presents the psychometric validation of the GNEM-FAS. Validation of the GNEM-FAS was performed using data from a randomized, double-blind, placebo-controlled Phase-II study (n = 46). Domain score distributions were acceptable. Moderate inter-item correlations (typical range, 0.40-0.70), strong item convergent and discriminant validity and high internal consistency reliability (α = 0.88-0.92) supported the instrument structure. Test-retest reliability was strong (ICC range: 0.87-0.95). Scale scores distinguished among subjects with differing disease severity (p < 0.05). This study provides preliminary evidence of the GNEM-FAS as a valid, reliable assessment.

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

GNE myopathy is a rare distal myopathy, caused by mutations in the GNE gene, affecting sialic acid synthesis. Clinical presentation varies from asymptomatic early stage patients to severely debilitating forms. This first report describes clinical presentations and severity of the disease, using data of 150 patients collected via the on-line, patient-reported registry component of the GNE Myopathy Disease Monitoring Program (GNEM-DMP). Disease progression was prospectively analysed, over a 2-year period, using the GNE myopathy functional activity scale (GNEM-FAS). The average annual rates of decline in function were estimated at −9.6% and −3.2% in ambulant and non-ambulant patients respectively. 4.3% of participants became non-ambulant within one year. The mean time from onset to required use of a wheelchair was 11.9 years. Mean delay of genetic diagnosis from symptom onset was 5.2 years. Mutation specific analysis demonstrated genotype–phenotype relationships; i.e. p.Ala662Val may be associated with a more severe phenotype, compared to p.Val727Met. Patients with compound heterozygous mutation in epimerase and kinase domain appeared to have a more severe phenotype compared to patients with both mutations located within one domain. Acknowledging the limitations of the study, these findings suggest that the severity of the GNE mutations affects disease severity. The GNEM-DMP is a useful data collection tool, prospectively measuring the progression of GNE myopathy, which could play an important role in translational and clinical research and further understanding of genotype–phenotype correlations.

ID 59 – Asymmetric changes of acoustic event-related potentials (AERP) under the influence of repetitive transcranial magnetic stimulation at normal subjects and patients with posttraumatic unconsciousness states (PUS)

Repetitive transcranial magnetic stimulation (rTMS) is a method in treatment of posttraumatic unconsciousness states. Goal of the study was to analyze the affects on mental and bioelectric activity under low-frequency rTMS in healthy persons and patients with PUS. Two groups of participants were evaluated in view of functional sub-threshold rTMS effects on premotor cortex: (1) 5 healthy volunteers underwent placebo and single rTMS with memory, attention and AERP (N100, N200, P300) assessment prior and 1 h after stimulation; (2) 8 patients with PUS underwent single rTMS with clinical and AEP assessment; 5 of whom underwent 7-day rTMS. Clinical assessment included determination of consciousness recovery stages (Dobrokhotova et al., 1996) and functional activity scale developed by authors with focus on the attention and movement. AERP were recorded by two-stimulus oddball paradigm, in tasks of listening sounds and accounts of the target. Distinct rTMS effects on attention was revealed: (1) activization in healthy volunteers, (2) its restoration in patients. In target stimuli counting tasks (mainly voluntary attention) quantitative changes of N2 and P300 prevailed in the left frontal region. In listening sounds tasks (mainly involuntary attention) the most significant changes were recorded in P300 in the right temporal region.

P.3.1 GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific instrument for measuring function and independence

GNE myopathy or hereditary inclusion body myopathy (HIBM) is an autosomal recessive myopathy presenting with distal leg weakness in early adulthood. Progressive weakness results in greater dependence and disability over time. A disease-specific measurement of functional activity is needed to better understand the burden of illness, inform the design of clinical studies and optimize care. After clinical interview of patients, a 25-item questionnaire was developed to assess ability and independence in three domains: mobility, upper extremity (UE) use and self-care. Each item was rated from 0 to 4 with higher scores representing better function. Total scores range from 0 to 100; subscale scores range from 0 to 40 for Mobility, 0–32 for UE and 0–28 for Self-Care. The GNE Myopathy Functional Activity Scale (GNEM-FAS) was administered to 47 ambulatory subjects enrolled in a Phase 2 study of extended release sialic acid. Physical therapists completed the GNEM-FAS based on clinical observation and subject interview. Scores were compared to performance on volitional measures of strength and function, as well as scores on the Inclusion Body Myositis Functional Rating Scale (IBMFRS), a validated instrument for myositis. The mean GNEM-FAS total score was 69 out of 100 (23–94). Mobility subscores averaged 50%, UE, 81% and Self-Care, 82% of the maximum possible. Higher Mobility scores were associated with greater lower extremity strength ( r =0.83) and longer 6MWT distances ( r =0.83). A moderate association was seen between the UE domain scores and UE strength ( r =0.66). Self-care domain scores and the stair climb time were negatively related ( r =−0.68). There was a strong correlation between GNEM-FAS total scores and IBMFRS scores ( r =0.94). Mobility was limited more than UE or self-care function in this cohort of ambulatory subjects with GNE myopathy. Repeat administration in treated and untreated patients with varying degrees of severity is underway to further validate the instrument.

Validation of the activities assessment scale in women undergoing pelvic reconstructive surgery.

The Activities Assessment Scale (AAS) is a 13-item postoperative functional activity scale validated in men who underwent hernia surgery. We evaluated the psychometric characteristics of the AAS in women who underwent vaginal surgery for pelvic organ prolapse (POP) and stress urinary incontinence (SUI). Participants included 163 women with POP and SUI enrolled in a randomized trial comparing sacrospinous ligament fixation to uterosacral vault suspension with and without perioperative pelvic floor muscle training. Participants completed the AAS and SF-36 at baseline and 2 weeks and 6 months postoperatively. Internal reliability of the AAS was evaluated using Cronbach α. Construct validity and responsiveness were examined in cross-sectional and longitudinal data using Pearson correlation coefficient and analysis of variance. The AAS is scored from zero to 100 (higher scores=better function). Mean (SD) baseline AAS score was 87 (17.3) (range, 25-100). Functional activity declined from baseline to 2 weeks postoperatively (mean change, -4.5; 95% confidence interval, -7.6 to -1.42) but improved above baseline at 6 months (mean change, +10.9; 95% confidence interval, 7.8-14.0). Internal reliability of the AAS was excellent (Cronbach α=0.93). Construct validity was demonstrated by a correlation of 0.59 to 0.60 between the AAS and SF-36 physical functioning scale (P<0.0001) and lower correlations between the AAS and other SF-36 scales. Patients who improved in physical functioning based on the SF-36 between 2 weeks and 6 months postoperatively showed an effect size of 0.86 for change in the AAS over the same period. The AAS is a valid, reliable, and responsive measure for evaluation of physical function in women after pelvic reconstructive surgery.