European Survey: Dysphagia Management in Patients with Neuromuscular Diseases.

Dysphagia is common in patients with neuromuscular diseases (NMDs). Its management differs by country and clinical setting. The purpose of this study was to describe current practices in the management of dysphagia in NMDs across Europe. An online survey of sixteen questions was developed, including basic information on facilities, existence of a management protocol, availability of dedicated therapists, tools used during screening, assessment, treatment stages, and treatment strategies. The survey was rolled out to European healthcare facilities providing care for NMDs. A total of 140 facilities across 25 European countries completed the survey. Substantial discrepancies in dysphagia management were identified among respondents. Seventy-two percent of the facilities reported having a protocol for at least one of the three management stages whereas only 39% had one for all. Speech and language therapists were reported as involved throughout the entire management stage while participation of other members from multidisciplinary teams varied depending on the stage. Clinical swallowing assessment was the most frequently reported tool in the assessment and treatment stages. For screening, questionnaires were the most frequently used while instrumental examinations were mainly reported in the assessment stage. For the treatment stage, adaptation strategies (diet, food, and posture) were the most reported approaches. In conclusion, the survey highlighted the absence of a defined protocol concerning the management of dysphagia in most of the surveyed healthcare facilities. Standardized training strategies and guidelines are necessary in the future to familiarize clinicians with each stage of the management of dysphagia.

Screening for oropharyngeal dysphagia in adult patients with neuromuscular diseases using the Sydney Swallow Questionnaire.

INTRODUCTION/AIMS: Oropharyngeal dysphagia is common in patients with neuromuscular diseases (NMDs). Its early recognition is vital for proper management. We tested a large cohort of adult NMD patients for oropharyngeal dysphagia using the Sydney Swallow Questionnaire (SSQ). We also looked for possible differences in characteristics of oropharyngeal dysphagia in various NMD groups and diseases. Finally, we compared results of this screening with those from their corresponding medical records for eventual "clinical history" of dysphagia. METHODS: We asked patients to fill in the SSQ during follow-up outpatient visits at our neuromuscular reference center. A total score above the cutoff score of 118.5 out of 1700 was indicative of oropharyngeal dysphagia. RESULTS: Of the 304 adult patients assessed for eligibility, 201 NMD patients (96 women and 105 men, aged 49.0 ± 16.2 years) were included and tested in this study. Oropharyngeal dysphagia was detected in 45% of all the NMD patients when using the SSQ, whereas only 12% had a positive medical record for dysphagia. The median SSQ scores for patients with myotonic syndromes (including myotonic dystrophy type 1), with amyotrophic lateral sclerosis, and with facioscapulohumeral dystrophy were above the cutoff score. The SSQ scores obtained revealed distinct oropharyngeal dysphagia characteristics in the different NMD groups and diseases. DISCUSSION: The SSQ tests positively for oropharyngeal dysphagia in a higher proportion of NMD patients compared with their medical records. The distinct oropharyngeal dysphagia characteristics we revealed in different NMD groups and diseases may help to elaborate adapted clinical approaches in the management of oropharyngeal dysphagia.

Validation and Reliability of the French Version of the Sydney Swallow Questionnaire.

Oropharyngeal dysphagia is frequently under-reported and early detection may lead to adapt strategies of rehabilitation and management decisions. The Sydney Swallow Questionnaire (SSQ), a self-reported questionnaire for the detection and quantification of oropharyngeal dysphagia, was previously adapted and validated in other languages but not in French. The purposes of this study were to develop and validate a French version of SSQ (SSQ-f) and to assess its psychometric properties. This SSQ-f, obtained by back-translation and cross-cultural adaptation, was validated in 27 patients with impaired swallowing and 27 healthy controls. After inclusion, patients filled in the SSQ-f and performed a videofluoroscopic swallow study. The penetration aspiration scale (PAS) and Dysphagia outcome and severity scale (DOSS) were assigned to assess construct validity. Sensitivity and specificity of cut-off scores for the SSQ-f were assessed by the receiver operating characteristic (ROC) curves. Moreover, the SSQ-f was repeated after 2 weeks to evaluate its test-retest reliability. The results supported that SSQ-f was considered understandable. Its total score was strongly correlated to the DOSS (r = - 0.873) and to the PAS (r = 0.738). It demonstrated acceptable internal consistency, with Cronbach's alpha values ranging from 0.744 to 0.956. The test-retest reliability was excellent. According to the ROC curve, cut-off scores of 118.5 or 218.5 were proposed for determining oropharyngeal dysphagia using DOSS as a reference and 755.0, using PAS as reference. No ceiling or floor effects were observed. In conclusion, the SSQ-f is a valid and reliable instrument to measure and detect oropharyngeal dysphagia in French-speaking subjects and can be used in a clinical setting.

Validation of the ABILHAND questionnaire to measure manual ability in children and adults with neuromuscular disorders.

BACKGROUND: Neuromuscular disorders (NMDs) can lead to specific manual disabilities due to hand muscle weakness and atrophy, myotonia or loss of sensory function. The aim of this study was to adapt and validate the ABILHAND questionnaire in children and adults with NMDs using the Rasch model. METHODS: This questionnaire contained specific manual activities for children and for adults, as well as common manual activities. 124 adult patients and the parents of 124 paediatric patients were asked to provide their perceived difficulty in performing each manual activity on a three level scale: impossible (0), difficult (1) or easy (2). Items were selected from well established psychometric criteria (ordered categories, equal item discrimination, adequate fit to the Rasch model, lack of redundancy) using the Rasch Unidimensional Measurement Models (RUMM2020) computer programme. RESULTS: The 22 selected items contain four children specific items, four adult specific items and 14 items commonly applicable to both children and adults. They define a unidimensional and linear measure of manual ability and demonstrate continuous progression in their difficulty. The item hierarchy of difficulty was invariant across six patient related factors. The scale exhibited good precision (r=0.95) and the 22 items were well targeted to the patients' locations. The ABILHAND measures were strongly related to the ACTIVLIM measures (r=0.76) and poorly related to grip strength (r=0.36 for the right hand and r=0.40 for the left hand). CONCLUSION: This scale can be used for adults and children, allowing manual ability to be assessed from childhood to adulthood.

Activity limitations in patients with neuromuscular disorders: a responsiveness study of the ACTIVLIM questionnaire.

Recently, a self-reported scale of activity limitations, the ACTIVLIM questionnaire, was developed and validated in patients with neuromuscular disorders (NMD). The purpose of this study was to investigate its sensitivity to change. One hundred thirty-two patients with NMD (mean age, range: 31, 6-80) were assessed twice, with 21+/-4 months in between, using the ACTIVLIM questionnaire. Mean score change, effect size, standardized response, mean paired t-test and an individual-level statistical approach were calculated for groups of patients according to their self-rated functional status evolution and for three main diagnostic groups (Ambulant and wheelchair-bound Duchenne muscular dystrophy patients, myotonic dystrophy patients, and patients with Charcot-Marie-Tooth neuropathy). The responsiveness indices showed that the change in activity measures was higher in patients who reported deteriorated functional status and in patients with Duchenne muscular dystrophy. The ACTIVLIM questionnaire showed a good sensitivity to change and could be useful in research settings to characterize the disease course of NMD.

A comparison between self-reported and observed activity limitations in adults with neuromuscular disorders.

OBJECTIVE: To investigate the agreement between the self-reported and examiner-reported difficulties of patients with neuromuscular disorders (NMDs) in performing daily activities at home. DESIGN: A comparison between 2 methods of administering a measurement instrument. SETTING: Neuromuscular reference center in a university hospital. PARTICIPANTS: Adult patients (N=57) with diagnosed NMDs living at home. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: The ACTIVLIM questionnaire. RESULTS: The intraclass correlation coefficient, model 2,1 (ICC(2,1)), between the measures was very good (ICC(2,1)=.87), indicating a good agreement between self-perceived and observed measures. CONCLUSIONS: The use of ACTIVLIM as a self-reporting questionnaire is a valid method for assessing activity limitations in patients with NMD.

ACTIVLIM: a Rasch-built measure of activity limitations in children and adults with neuromuscular disorders.

A common measure of activity limitations for both children and adults with neuromuscular disorders was developed using the Rasch model. A self-reported questionnaire containing daily activities was submitted to 245 adult patients and to the parents of 124 affected children from the two major Belgian communities. They were asked to provide their perceived difficulty in performing daily activities on a three-level scale. The 22 items of the final scale define a unidimensional and linear measure of activity limitations and show a continuous progression in their difficulty. The item difficulty hierarchy is invariant with regard to the diagnosis, community, gender and age. The scale exhibits a good precision, since the 22 items are well targeted on our sample (r=0.96); furthermore, it is reproducible over time (ICC=0.93). The patients' measures are related to the Functional Independence Measure motor score (rho=0.85), to the Brooke (rho=-0.63) grade and to the Vignos (rho=-0.83) grade.

Can manual ability be measured with a generic ABILHAND scale? A cross-sectional study conducted on six diagnostic groups.

OBJECTIVES: Several ABILHAND Rasch-built manual ability scales were previously developed for chronic stroke (CS), cerebral palsy (CP), rheumatoid arthritis (RA), systemic sclerosis (SSc) and neuromuscular disorders (NMD). The present study aimed to explore the applicability of a generic manual ability scale unbiased by diagnosis and to study the nature of manual ability across diagnoses. DESIGN: Cross-sectional study. SETTING: Outpatient clinic homes (CS, CP, RA), specialised centres (CP), reference centres (CP, NMD) and university hospitals (SSc). PARTICIPANTS: 762 patients from six diagnostic groups: 103 CS adults, 113 CP children, 112 RA adults, 156 SSc adults, 124 NMD children and 124 NMD adults. PRIMARY AND SECONDARY OUTCOME MEASURES: Manual ability as measured by the ABILHAND disease-specific questionnaires, diagnosis and nature (ie, uni-manual or bi-manual involvement and proximal or distal joints involvement) of the ABILHAND manual activities. RESULTS: The difficulties of most manual activities were diagnosis dependent. A principal component analysis highlighted that 57% of the variance in the item difficulty between diagnoses was explained by the symmetric or asymmetric nature of the disorders. A generic scale was constructed, from a metric point of view, with 11 items sharing a common difficulty among diagnoses and 41 items displaying a category-specific location (asymmetric: CS, CP; and symmetric: RA, SSc, NMD). This generic scale showed that CP and NMD children had significantly less manual ability than RA patients, who had significantly less manual ability than CS, SSc and NMD adults. However, the generic scale was less discriminative and responsive to small deficits than disease-specific instruments. CONCLUSIONS: Our finding that most of the manual item difficulties were disease-dependent emphasises the danger of using generic scales without prior investigation of item invariance across diagnostic groups. Nevertheless, a generic manual ability scale could be developed by adjusting and accounting for activities perceived differently in various disorders.

Changes in satisfaction with activities and participitation between acute, post-acute and chronic stroke phases: a responsiveness study of the SATIS-Stroke questionnaire.

OBJECTIVE: To investigate clinical changes among the acute, post-acute and chronic phases in stroke patients' satisfaction with activities and participation. The SATIS-Stroke questionnaire's sensitivity to change was investigated with a sample of 45 stroke patients. METHODS: The SATIS-Stroke questionnaire was used to collect data from the 45 patients (mean age 69 years, 64% men) in the acute, post-acute and chronic stroke phases. Responsiveness of the questionnaire was investigated using a sample approach (effect size and standardized response mean indices) and an individual approach (t statistic). The clinical significance of change was also calculated using the empirical rule of effect size and the minimal clinically important difference. RESULTS: Analysis of variance showed a significant difference among evaluations in the 3 phases (F = 13.662; 2 df; p < 0.001). Post-hoc analysis showed a significant change between the acute and post-acute phases, but no significant change between the post-acute and chronic phases. Effect size and standardized response mean indices showed that the greatest change in satisfaction with activity and participation was between the acute and the chronic phases. Analysis of the clinical significance of change indicated that greater changes in satisfaction were necessary to detect clinically relevant improvement over time than clinically relevant deterioration. CONCLUSION: The SATIS-Stroke questionnaire successfully determined changes in satisfaction among stroke patients.

Validation of a manual ability questionnaire in patients with systemic sclerosis.

OBJECTIVE: To adapt and validate a manual ability questionnaire, the ABILHAND, developed through the Rasch methodology in patients with systemic sclerosis (SSc). METHODS: The original version of the ABILHAND, which includes 81 manual daily activities, was presented to 156 patients with SSc. They were asked to provide their perceived difficulty in performing each manual activity on a 3-level scale: impossible, difficult, or easy. Items were selected from well-established psychometric criteria. The patients were reassessed 1 month later to test the reproducibility. Concomitantly, they were clinically evaluated for their disease activity/severity, and their functional ability was tested with the Health Assessment Questionnaire (HAQ). RESULTS: The 26 selected items defined a unidimensional and linear measure of manual ability and showed a continuous progression in their difficulty. The item difficulty hierarchy was invariant across 12 patient-related factors and the manual ability score was reproducible over time. Finally, the manual ability was significantly poorer in SSc patients with more severe disease, and was negatively correlated with the HAQ score (rho = -0.733). CONCLUSION: The SSc-adapted ABILHAND questionnaire is a reliable, valid, reproducible, linear, and unidimensional measure to assess and followup on the manual ability of patients with SSc; therefore, it could become a useful additional tool in clinical trials to assess treatment efficacy.