Karlien Mul
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View article: Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study
Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study Open
Background Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited multi-system disorder that affects skeletal muscles but also many other organ systems. Molecular targets have been identified and targeted therapies are being de…
View article: Electrical impedance myography captures features of muscle structure measured by MRI and transcriptomic analysis in facioscapulohumeral muscular dystrophy
Electrical impedance myography captures features of muscle structure measured by MRI and transcriptomic analysis in facioscapulohumeral muscular dystrophy Open
Background: Electrical impedance myography (EIM) has been proposed as an efficient, non-invasive biomarker of muscle composition in facioscapulohumeral muscular dystrophy (FSHD). Objective: We investigate whether EIM parameters are associa…
View article: Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1): protocol of an international natural history study
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1): protocol of an international natural history study Open
Background Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited multi-system disorder that affects skeletal muscles but also many other organ systems. Molecular targets have been identified and targeted therapies are being de…
View article: The blind men and the elephant: recognising the multisystem symptoms of myotonic dystrophy type 1
The blind men and the elephant: recognising the multisystem symptoms of myotonic dystrophy type 1 Open
Although myotonic dystrophy type 1 (DM1) is named after its characteristic muscle symptoms, it is in fact a multisystem disorder that can affect many different organs. It is therefore not surprising that this disease can manifest with a my…
View article: The Facioscapulohumeral Muscular Dystrophy Rasch‐Built Overall Disability Scale (<scp>FSHD</scp>‐<scp>RODS</scp>): Longitudinal Assessment of a Disease‐Specific Patient Reported Outcome
The Facioscapulohumeral Muscular Dystrophy Rasch‐Built Overall Disability Scale (<span>FSHD</span>‐<span>RODS</span>): Longitudinal Assessment of a Disease‐Specific Patient Reported Outcome Open
Objective To assess changes in the facioscapulohumeral muscular dystrophy Rasch‐Built Overall Disability Scale (FSHD‐RODS) over 6.5 years in FSHD patients. Methods FSHD patients of 18 years or older were assessed at baseline (T1) and follo…
View article: Muscle imaging in facioscapulohumeral muscular dystrophy research: A scoping review and expert recommendations
Muscle imaging in facioscapulohumeral muscular dystrophy research: A scoping review and expert recommendations Open
Clinical trial readiness is an important topic in the field of facioscapulohumeral muscular dystrophy (FSHD). As FSHD is a slowly progressive and clinically heterogeneous disease, imaging biomarkers have been proposed to complement clinica…
View article: A 5‐year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials
A 5‐year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials Open
Introduction/Aims The number of clinical trials in facioscapulohumeral muscular dystrophy (FSHD) is expected to increase in the near future. There is a need for clinical outcome assessments (COAs) that can capture disease progression over …
View article: The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound
The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound Open
Introduction/Aims One of the most distinct clinical features of facioscapulohumeral muscular dystrophy (FSHD) is facial weakness. It leads to diminished facial expression and functional impairments. Despite its clinical relevance, little e…
View article: Comprehensive four-year disease progression assessment of myotonic dystrophy type 1
Comprehensive four-year disease progression assessment of myotonic dystrophy type 1 Open
Myotonic dystrophy type 1 (DM1) is a heterogeneous neuromuscular disorder characterized by progressive muscle weakness and myotonia. This study investigates the progression of muscular strength and function over a four-year period. Patient…
View article: Improving Heckmatt muscle ultrasound grading scale through Rasch analysis
Improving Heckmatt muscle ultrasound grading scale through Rasch analysis Open
The 4-point Heckmatt grading scale can easily be used to analyze muscle ultrasound images. The scale is used in an expanding set of muscles and neuromuscular disorders. This prompted the need for evaluation of the measurement properties of…
View article: Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases
Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases Open
Background: Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments focus on optimizing …
View article: The complementary use of muscle ultrasound and MRI in FSHD: Early versus later disease stage follow-up
The complementary use of muscle ultrasound and MRI in FSHD: Early versus later disease stage follow-up Open
Our results help establish each techniques' optimal use as imaging biomarker.
View article: IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy
IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy Open
Background: FSHD is a highly prevalent inherited myopathy with a still poorly understood pathology. Objective: To investigate whether proinflammatory cytokines are associated with FSHD and which specific innate immune cells are involved in…
View article: Establishing the role of muscle ultrasound as an imaging biomarker in facioscapulohumeral muscular dystrophy
Establishing the role of muscle ultrasound as an imaging biomarker in facioscapulohumeral muscular dystrophy Open
Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscle disease, that causes weakness and wasting of skeletal muscles. In this cross-sectional cohort-study on FSHD patients, we assessed muscle ultrasound findings and their rel…
View article: Psychosocial functioning in patients with altered facial expression: a scoping review in five neurological diseases
Psychosocial functioning in patients with altered facial expression: a scoping review in five neurological diseases Open
This review showed that patients with altered facial expression in four of five included neurological diseases had reduced psychosocial functioning. Future research recommendations include studies on observers' judgements of patients durin…
View article: Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome
Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome Open
Background It is unclear how changes in quantitative muscle magnetic resonance imaging (MRI) relate to changes in clinical outcome in facioscapulohumeral muscular dystrophy (FSHD), although this information is crucial for optimal use of MR…
View article: Assessment of the burden of outpatient clinic and MRI-guided needle muscle biopsies as reported by patients with facioscapulohumeral muscular dystrophy
Assessment of the burden of outpatient clinic and MRI-guided needle muscle biopsies as reported by patients with facioscapulohumeral muscular dystrophy Open
Muscle biopsies are used in clinical trials to measure target engagement of the investigational product. With many upcoming therapies for patients with facioscapulohumeral dystrophy (FSHD), the frequency of biopsies in FSHD patients is exp…
View article: Semi-automated Rasch analysis with differential item functioning
Semi-automated Rasch analysis with differential item functioning Open
Rasch analysis is a procedure to develop and validate instruments that aim to measure a person’s traits. However, manual Rasch analysis is a complex and time-consuming task, even more so when the possibility of differential item functionin…
View article: Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy
Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy Open
A multidisciplinary, personalized approach, focusing on coping with physical, emotional, and social consequences of FSHD is supposed to be helpful. Further research is needed to assess the psychosocial outcomes of facial weakness in younge…
View article: Development and validation of the patient-reported “Facial Function Scale” for facioscapulohumeral muscular dystrophy
Development and validation of the patient-reported “Facial Function Scale” for facioscapulohumeral muscular dystrophy Open
This study provides a linear-weighted, clinimetrically sound, patient-reported outcome measure on the functional disabilities relating to facial weakness in FSHD, to enable further research on this relevant topic.Implications for rehabilit…
View article: Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy
Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy Open
Objective To evaluate the 5-year change in respiratory function in patients with facioscapulohumeral muscular dystrophy (FSHD). Methods Genetically confirmed patients with FSHD aged ≥ 18 years were examined twice over five years. Forced vi…
View article: Semi-Automated Rasch Analysis with Differential Item Functioning
Semi-Automated Rasch Analysis with Differential Item Functioning Open
Rasch analysis is a procedure to develop and validate instruments that aim to measure persons' traits. However, manual Rasch analysis is a complex and time-consuming task, even more so when the possibility of differential item functioning …
View article: Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers
Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers Open
With several therapeutic strategies for facioscapulohumeral muscular dystrophy (FSHD) entering clinical testing, outcome measures are becoming increasingly important. Considering the spatiotemporal nature of FSHD disease activity, clinical…
View article: Development and validation of the patient-reported “Facial Function Scale” for facioscapulohumeral muscular dystrophy
Development and validation of the patient-reported “Facial Function Scale” for facioscapulohumeral muscular dystrophy Open
Facial weakness and its functional consequences are an often underappreciated clinical feature of facioscapulohumeral muscular dystrophy (FSHD) by healthcare professionals and researchers. This is at least in part due to the fact that ther…
View article: Experiences of patients with facioscapulohumeral dystrophy with facial weakness: a qualitative study
Experiences of patients with facioscapulohumeral dystrophy with facial weakness: a qualitative study Open
Patients would like the expert teams to shed more light on effective skill training and psychosocial support, especially for the younger patient group. A multidisciplinary approach is needed in addition to programs focusing on the individu…