S. Knuijt

Referral of patients with neuromuscular disease to occupational therapy, physical therapy and speech therapy: usual practice versus multidisciplinary advice.

Purpose. To compare the volume of occupational therapy (OT), physical therapy (PT) and speech therapy (ST) as currently received by patients with neuromuscular diseases with the volume of OT, PT and ST recommended by a multidisciplinary team. Method. The use of OT, PT and ST was studied retrospectively and prospectively in a reference group (n = 106) receiving usual care and in an intervention group (n = 102) receiving advice based on multidisciplinary assessments. A cost analysis was made and the implementation of the advice was evaluated at 6 months. Intervention. Multidisciplinary assessments consisted of a single consultation by OT, PT and ST each, followed by a multidisciplinary meeting and integrated advice. Outcome variables. Volume (frequency times duration) of therapy, relative over- and underuse of therapy and costs of therapy and intervention. Results. Compared to the multidisciplinary advice, there was 40% underuse of OT among patients with neuromuscular disease. For PT, there was 32% overuse and 22% underuse; for ST, there was neither over- nor underuse. Some 40% of patients received once-only advice regarding ST compared to 27% regarding OT and 19% regarding PT. The costs of the multidisciplinary advice were estimated at €245 per patient. If fully implemented, our multidisciplinary approach would result in a mean cost savings of €85.20 per patient. The recommended therapy had, however, been implemented only partially at 6 months follow-up. Conclusions. Some patients with a neuromuscular disease do not receive any form of allied healthcare, whereas they should. Among patients with neuromuscular disease who do receive some form of allied healthcare, quite a few receive these treatments for too long periods of time. Ways need to be developed to improve implementation of the multidisciplinary advice and to obtain a more favourable balance between its costs and benefits.

Dysphagia is present but mild in myotonic dystrophy type 2

The phenotype of myotonic dystrophy type 2 (DM2) shows similarities as well as differences to that of myotonic dystrophy type 1 (DM1). Dysphagia, a predominant feature in DM1, has not yet been examined in DM2. In a recent nationwide questionnaire survey of gastrointestinal symptoms in DM2, 12 out of 29 DM2 patients reported to have difficulty in swallowing for solid food. The aim of the study was to investigate the presence of dysphagia in patients with genetically proven DM2 who reported difficulty in swallowing for solid food at the questionnaire survey. Swallowing function and fiberoptic endoscopic evaluation of swallowing (FEES) were examined by a speech therapist and otorhinolaryngologist, respectively. In DM2 patients who reported difficulty in swallowing the presence of dysphagia could be confirmed (clinically in 100%, by FEES in 88%). A correlation exists between Dysphagia Outcome and Severity Score (DOSS) and age (p=0.05). None of the patients was underweight, and none of the patients had suffered aspiration pneumonia in the past. Dysphagia is present among DM2 patients and is more severe in older patients. However, dysphagia is generally mild, and do not lead to weight loss, or aspiration pneumonia.

Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases

Abstract Purpose: Patients with a neuromuscular disease (NMD) can present with dysarthria and/or dysphagia. Literature regarding prevalence rates of dysarthria and dysphagia is scarce. The purpose of this study was to determine prevalence rates, severity and co-presence of dysarthria and dysphagia in adult patients with NMD. Method: Two groups of adult patients with NMD were included: 102 consecutive outpatients (the “unselected cohort”) and 118 consecutive patients who were referred for multidisciplinary assessment (the “selected cohort”). An experienced speech-language pathologist examined each patient in detail. Results: The pooled prevalence of dysarthria was 46% (95% CI: 36.5–55.9) and 62% (95% CI: 53.3–70.8) in the unselected and selected cohorts, respectively. The pooled prevalence of dysphagia was 36% (95% CI: 27.1–45.7) and 58% (95% CI: 49.4–67.2) in the unselected and selected cohorts, respectively. There was a modest but significant association between the presence of dysarthria and dysphagia (rs = 0.40; p < 0.01). Although the dysphagia was generally mild, dysarthria was moderate to severe in 15% of the dysarthric patients. Conclusion: The prevalence rates of dysarthria and dysphagia among patients with various types of NMD are high. Physicians should therefore be aware of this prevalence and consider referring NMD patients to a speech-language pathologist. Implicatons of Rehabilitation Both dysarthria and dysphagia are highly prevalent among patients with neuromuscular diseases; moreover, although often mild, these disorders can occur relatively early in the course of the disease. Clinicians should routinely check for signs and symptoms related to dysarthria and/or dysphagia in patients who present with a neuromuscular disease, preferably using standardised instruments.

Speech Pathology Interventions in Patients with Neuromuscular Diseases: A Systematic Review

Purpose: A systematic review was conducted to summarize and evaluate the literature on the effectiveness of speech pathology interventions in adults with neuromuscular diseases. Method: Databases searched included the Cochrane Database of Systematic Reviews, the Cochrane Central Register of Controlled Trials, MEDLINE, CINAHL, EMBASE, PsycINFO and PubMed. A total of 1,772 articles were independently screened on title and abstract by 2 reviewers. Results: No randomized controlled trials or clinical controlled trials were found. Four other designs were included. Only one study on oculopharyngeal muscle dystrophy (OPMD) appeared to have sufficient methodological quality. There is evidence indicating that correction of head position in patients with OPMD improves swallowing efficiency (level III evidence). Conclusion: Despite 1,772 studies, there is only evidence of level III regarding the effectiveness of speech pathology interventions in patients with OPMD. Recommendations for future research are given.

Language impairment in cerebellar ataxia

Several studies have suggested that language impairment can be observed in patients with cerebellar pathology. The aim of this study was to investigate language performance in patients with spinocerebellar ataxia type 6 (SCA6).

The 6-min mastication test: a unique test to assess endurance of continuous chewing, normal values, reliability, reproducibility and usability in patients with mitochondrial disease

In patients with mitochondrial disease, fatigue and muscle problems are the most common complaints. They also experience these complaints during mastication. To measure endurance of continuous mastication in patients with mitochondrial diseases, the 6-min mastication test (6MMT) was developed. This study included the collection of normal data for the 6MMT in a healthy population (children and adults). During 6 min of continuous mastication on a chew tube chewing cycles per minute, total amount of chewing cycles and the difference between minute 1 (M1 ) and minute 6 (M2 ) were collected in 271 healthy participants (5-80 years old). These results were compared with those of nine paediatric and 25 adult patients with a mitochondrial disease. Visual analogue scale (VAS) scores were collected directly after the test and after 5 min. A qualitative rating was made on masticatory movements. The reproducibility of the 6MMT in the healthy population with an interval of approximately 2 weeks was good. The inter-rater reliability for the observations was excellent. The patient group demonstrated lower total amount of chewing cycles or had greater differences between M1 and M6 . The 6MMT is a reliable and objective test to assess endurance of continuous chewing. It demonstrates the ability of healthy children and adults to chew during 6 min with a highly stable frequency of mastication movements. The test may give an explanation for the masticatory problems in patient groups, who are complaining of pain and fatigue during mastication.

The Radboud Dysarthria Assessment: Development and Clinimetric Evaluation.

Objective: In the absence of an adequate dysarthria assessment in the Netherlands, we developed the Radboud Dysarthria Assessment (RDA). This article describes its development and clinimetric evaluation. Patients and Methods: Forty-three patients were assessed with the RDA. The recording forms were subjected to exploratory factor analysis and estimation of internal consistency. The self-evaluation questionnaire was tested for internal consistency and the severity scale for intra- and inter-rater reliability. Construct validity of the severity scale and questionnaire was determined by relating them to the Speech Handicap Index (SHI), Dutch sentence intelligibility assessment (NSVO-Z), and category fluency task. Results: Exploratory factor analysis extracted 4 factors (articulation, resonance, phonation, respiration/prosody) yielding an explained variance of 70.3%. Each factor showed good internal consistency (Cronbach’s α: 0.89–0.91). The self-evaluation questionnaire showed excellent internal consistency (Cronbach’s α: 0.90). Intra-class correlation coefficients of the severity scale (0.85–0.86) showed good reliability. The severity scores and self-evaluation questionnaire correlated substantially to strongly with the SHI (rs = 0.40 and 0.80) and substantially with the NSVO-Z (rs = –0.65 and –0.52). Conclusions: The RDA is a valid and reliable tool, but further investigation is needed to demonstrate whether this instrument can successfully support speech-language therapists in correctly diagnosing the type of dysarthria.

Reference values of maximum performance tests of speech production

Abstract Purpose: Maximum performance tests examine upper limits of speech motor performance, as used by speech-language pathologists in dysarthria assessment protocols. The Radboud Dysarthria Assessment includes maximum repetition rate, maximum phonation time, fundamental frequency range and maximum phonation volume to assist in detecting pathological performance. This study aims to obtain reference values for each of these tests. Method: A group of 224 healthy Dutch adults aged 18–80 years performed the maximum performance tests. Age, sex, body height, smoking habit, and profession were registered. Using multivariable linear regression, a wide range of models was tested to examine the relationship between these person characteristics and speech performance. The likelihood ratio was used to test the goodness of fit to the data. Result: Above 60 years of age, maximum repetition rate, fundamental frequency range and maximum phonation volume were all negatively affected by age. Below 60 years, only women showed effects of age on fundamental frequency range (increase) and maximum phonation volume (decrease). Maximum phonation time was primarily related to body height (increase). Conclusion: This study presents reference values of four maximum performance tests for comparing the performance of dysarthric patients with non-pathological performance. Age was identified as most important factor influencing maximum speech performance.