|English title dissertation||The impact of neuromuscular diseases on functioning and quality of life|
|Name PhD (surname first)||Bos Isaäc|
|Date of promotion||11/04/2018|
|University||Universiteit van Groningen|
|Promotores||Prof. dr. J.B.M. Kuks; Prof. dr. H.P.H. Kremer|
The impact of neuromuscular diseases on functioning and quality of life
Neuromuscular diseases (NMDs) encompass many diseases which impair muscle function, either directly through pathologies of the muscles, or indirectly through pathologies of the nerves or neuromuscular junctions. NMDs are progressive diseases which can cause muscle weakness or spasticity, and increased and increasing need for supportive devices and medical and non-medical support. We developed two self-report instruments to measure disability in NMDs and examined the consequences of NMDs on functioning and quality of life. We also examined the prevalence and severity of stigmatization among NMD patients and the impact on quality of life.
In the introduction in Chapter 1, we described the central concepts in this thesis: the pathophysiology and epidemiology of the broad and extensive group of NMDs, and the consequences of NMDs on physical, mental and social functioning. We then introduced the International Classification of Functioning, Disability and Health (ICF) as a suitable classification method for the development of a measurement instrument for the assessment of disease-related functioning and disability. Stigmatization was introduced as a relevant consequence of physical, mental and social disabilities in NMDs. We then described the broad concept of quality of life (QoL) and what is known about the impact of having an NMD on QoL. Finally, we described the characteristics and importance of patient reported outcome measurements (PROMs) and how to examine their psychometric properties.
In Chapter 2 we described the validation of the initial ICF Core Set for NMDs. This initial Core Set was originally developed for three neurological diagnoses: Multiple Sclerosis, Parkinson’s disease and Neuromuscular diseases. To examine the content validity of this initial ICF Core Set for NMDs, concepts in established and validated NMD quality of life measurement instruments were used. Concepts were linked to relevant ICF categories. Next these categories were compared with the ICF categories in the initial Core Set. The final NMD-ICF Core Set reflects a broad scope of NMD-related problems in functioning. In Chapter 3 we described the development of the Neuromuscular Disease Impact Profile (NMDIP). The first step was to develop an initial questionnaire based on the NMD-ICF Core Set. The second step was to carry out a cross-sectional postal survey on NMD patients. We then constructed robust scales and examined the psychometric properties of these scales. The final NMDIP consists of 36 items divided into eight scales with satisfactory psychometric properties, and four single items. In Chapter 4 we examined the stability over time and the Relative Validity of the NMDIP scales. The NMDIP is sensitive to detecting clinically important differences between relevant subgroups, and performed as well as or better than the concurrent measurement instruments.
|Download dissertation (English)||Proefschrift-Isaac-Bos-2018-EMO.pdf|