Test-retest reliability of three life balance measures in people with neuromuscular disease: the activity card sort-NL, the activity calculator, and the occupational balance questionnaire.

Purpose: Life balance is a new and important concept in occupational therapy. New measurements are needed to assess and evaluate life balance and interventions aimed to achieve this concept. This article describes the test-retest reliability of three life balance measures: the Activity Calculator (AC), Activity Card Sort (ACS-NL(18-64)) and Occupational Balance Questionnaire (OBQ11-NL).Method: Data collection took place among 50 participants with neuromuscular diseases: facioscapulohumeral dystrophy (FSHD, n = 25) or mitochondrial myopathy (MM, n = 25). The AC, the ACS-NL(18-64) and the OBQ11-NL were assessed twice with an interval of one week. Intraclass correlation coefficients (ICC-agreement) were applied to examine test-retest reliability.Results: The ICC of the AC-average total day score was .95 (95% CI .91-.97), whereas the ICC of the weights allocated to each activity was 0.80 (95% CI .77-0.82). The ICC of the ACS-NL(18-64) percentage retained activities was 0.92 (95% CI 0.86 - 0.96) and the ICC of the importance score per activity was- .76 (95% CI . 0.68-0.89). The ICC of the OBQ11-NL total score was .76 (95% CI 0.62-0.86).Conclusion: All three tools showed good to excellent test-retest reliability in a sample of patients with FSHD or MM, which is promising for its use in clinical practice and research.

The AC, ACS-NL(18­64) and the OBQ11-NL are promising, reliable measures of life balance in patients with neuromuscular diseases.The development of three new instruments for life balance enlarges the possibility for health professionals to measure life balance in clinical practice and research.

Having an eye for myotonic dystrophy: A qualitative study on experiences and support needs in myotonic dystrophy type 1 patients with a diagnostic delay after early-onset cataract.

Myotonic dystrophy type 1 is a neuromuscular disorder affecting multiple organ systems and is characterized by a variety of clinical presentations. Anticipation leads to an earlier and more severe phenotype in subsequent generations. Early-onset cataract is a common initial manifestation of the late or adult-onset type of myotonic dystrophy 1. Due to its multicausal nature, early-onset cataract is often not recognized as a feature of this disease, leading to diagnostic delay resulting in consequences for successive generations, treatment and counseling. A qualitative study with semi-structured interviews was performed with purposive sampling of eight participants with myotonic dystrophy type 1 and early-onset cataract to investigate the physical and psychosocial consequences experienced due to diagnostic delay. Prior to the early-onset cataract, all participants experienced other multisystem symptoms that could have been explained by myotonic dystrophy. The diagnostic delay had severe hereditary consequences: a subsequent generation with more severely affected (grand)children was born resulting in large emotional burden for the patients. To conclude, early-onset cataract is a warning sign and ophthalmologists play a crucial role in the early detection of myotonic dystrophy type 1 by recognizing this symptom and preventing the birth of severely affected children leading to emotional and psychosocial consequences.

Facilitators and Barriers to Wearing Hand Orthoses by Adults with Duchenne Muscular Dystrophy: A Mixed Methods Study Design.

BACKGROUND: To retard shortening of finger flexors in patients with Duchenne muscular dystrophy (DMD), hand orthoses are prescribed. However, many patients do not wear the orthoses regularly. To optimize orthotic interventions, we need insight into the factors influencing compliance. OBJECTIVE: To evaluate the compliance regarding hand orthoses in an adult DMD population and to explore experiences and perceptions of DMD patients wearing orthoses, and of their caregivers. METHODS: Mixed methods observational study, combining quantitative and qualitative data from medical charts combined with qualitative semi-structured interviews using a constant comparative method and a short validated questionnaire (D-QUEST). RESULTS: 65 medical charts were analyzed. 48 patients were assessed as needing hand orthoses, of whom 37.5 % were compliant. Qualitative data analyses revealed (1) motivation: preservation of hand function; (2) barriers: discomfort and impediments; (3) facilitators: good fit and personalized wearing schedule; (4) fitting process: satisfactory, but patients do not readily seek help when barriers appear. CONCLUSIONS: Patients are motivated to wear hand orthoses, but often discontinue use because of orthosis-and disease-specific barriers. The identification of these barriers leads to practical and feasible recommendations concerning the orthoses and the fitting process, such as less rigid material, preservation of some function while wearing the orthoses, and fixed evaluation points. The findings were confirmed by the D-QUEST.

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.

Optimizing referral of patients with neuromuscular disorders to allied health care.

BACKGROUND AND PURPOSE: To report the predictive validity of the perceived limitations in activities and need questionnaire (PLAN-Q), a screening instrument to support neurologists to select patients with neuromuscular disorders (NMD) for referral for a one-off consultation by occupational therapist (OT), physical therapist (PT) and speech therapist (ST). METHODS: In a cross-sectional validation study, 102 patients with various NMD participated. Patients received a one-off consultation by an expert OT, PT and ST and filled out the PLAN-Q. Therapists rated the appropriateness of the one-off consultations based on need, available treatment and patient's motivation. Receiver Operation Characteristic analysis and multivariate logistic regression analysis were used to obtain a PLAN-Q based prediction model for the appropriateness of the one-off consultations. RESULTS: Probability for a one-off OT consultation increased from 64% to 78% (95% CI: 69-85%). Prior test probability for a one-off ST consultation increased from 44% to 61% (95% CI: 48-73%). Prior test probability for one-off PT consultation could not be increased. CONCLUSION: Screening patients with NMD using the PLAN-Q may assist neurologists in selecting the appropriate patients for a one-off consultation by OT and ST. Unlike our expectations the screening did not guide referral for a one-off consultation by PT.

Reliability and validity of the Canadian Occupational Performance Measure in stroke patients.

OBJECTIVE: To research test-retest reliability and discriminant validity of the Canadian Occupational Performance Measure (COPM), a client-centred outcome measure, in stroke patients. DESIGN: The COPM was administered twice with a mean interval of eight days (SD 2.5, range 5-16). On both occasions the patient identified a maximum of five problems in daily activities. The problems of both interviews were compared. The problems identified during the first COPM were rated by the patient on a performance and satisfaction rating scale on both occasions. The individually identified items with use of the client-centred COPM were compared with the fixed items of standardized measures (Barthel Index, Frenchay Activities Index, Stroke Adapted Sickness Impact Profile-30, Euroqol 5D and Rankin Scale). SETTING: Patients were interviewed at their place of residence. SUBJECTS: Twenty-six stroke patients participated, 11 men and 15 women, aged from 26 to 83 years (mean 68, SD 15). Twenty-four patients were six months, two patients were two months post stroke. RESULTS: Of the 115 problems identified during the first COPM, 64 (56%) were also identified the second time. Correlation coefficients for the scores were 0.89 (p < 0.001) for performance and 0.88 (p < 0.001) for satisfaction. Of the individual problems identified with the COPM, 25% or less were present in the standardized measures. Correlations between the scores on the COPM and the standardized measures were low and nonsignificant, while all standardized measures correlated significantly with each other. CONCLUSIONS: Test-retest reliability of the COPM was moderate for the item pool but was good for the performance and satisfaction scores. Discriminant validity was confirmed. Many patient-unique problems identified with the COPM were not evaluated by standardized measures.