Arjen Bergsma

Patterns of decline in upper limb function of boys and men with DMD: an international survey

With increasing life expectancy, upper extremity (UE) function becomes more and more important in boys with Duchenne muscular dystrophy (DMD). Knowledge of UE function in these children is, however, limited. The aim of this study was to gain insight into the changing patterns of UE function during the course of DMD. A Web-based questionnaire on UE function, covering all domains of the International Classification of Functioning Disability and Health, was distributed worldwide. Primary domains of the questionnaire were: participant characteristics, UE pain and stiffness, UE activities, and social participation. Data were described per disease stage and analyzed using descriptive analysis. A total of 213 boys/men with DMD (1–35xa0years) were included in this study. UE pain, stiffness, and activity limitations increased with disease stage. UE activity limitations already occurred in the early ambulatory stage. Compared to the healthy population, social participation was restricted in DMD patients and about 70xa0% of the respondents experienced UE limitations when performing social activities. Despite the existence of UE impairments, only 9xa0% of the respondents used supportive aids. Functional capacities and activities of the UE are limited already in the early ambulatory stage of patients with DMD affecting their social participation. Therefore, clinicians should pay attention to UE limitations before DMD patients lose their capacity to walk. Effective and adequate aids as well as attention for pain and stiffness in the therapeutic management could help to reduce UE activity limitations and related restrictions in social participation.

Upper extremity function and activity in facioscapulohumeral dystrophy and limb-girdle muscular dystrophies: a systematic review.

Abstract Purpose: The aims of this review were (1) to provide insight into the natural course of upper-extremity (UE) impairments and UE activity limitations associated with facioscapulohumeral dystrophy (FSHD) and limb-girdle muscular dystrophies (LGMD), and (2) to provide an overview of outcome measures used to evaluate UE function and activity in patients with FSHD and LGMD. Methods: Scientific literature databases (PubMed, MEDLINE, EMBASE, CINAHL and Cochrane) were searched for relevant publications. Inclusion criteria: (1) studies that included persons with a diagnosis of FSHD or LGMD; and (2) studies that reported the natural course of the UE functions and/or activity with outcome measures at these levels. Results: 247 publications were screened, of which 16 fulfilled the selection criteria. Most studies used manual muscle testing (MMT) to evaluate UE function and the Brooke Scale to evaluate UE mobility activities. The clinical picture of UE impairments and limitations of UE activities in FSHD and LGMD patients was highly variable. In general, FSHD and LGMD patients experience difficulty elevating their upper extremities and the execution of tasks takes considerably longer time. Conclusions: The clinical course of UE impairments and activity limitations associated with FSHD and LGMD is difficult to predict due to its high variability. Although measures like MMT and the Brooke Scale are often used, there is a lack of more specific outcome measures to assess UE function and UE capacity and performance in daily life. Measures such as 3D motion analysis and electromyography (EMG) recordings are recommended to provide additional insight in UE function. Questionnaires like the Abilhand are recommended to assess UE capacity and accelerometry to assess UE performance in daily life. Implications for Rehabilitation There is a need for specific outcome measures on the level of UE activity. Both the level of capacity and performance should be assessed. Possible outcome measures include 3D motion analysis to assess UE function, questionnaires like the Abilhand to assess UE capacity and accelerometry to assess performance of UE activities in daily life.

Upper limb function and activity in people with facioscapulohumeral muscular dystrophy: a web-based survey

Abstract Purpose To investigate the upper extremity (UE) at the level of impairments and related activity limitations and participation restrictions in people with facioscapulohumeral muscular dystrophy (FSHD). Methods The study was conducted using web-based questionnaires that were distributed amongst people with FSHD in the Netherlands. Eighty-eight respondents started the survey, and 71 completed it. The questionnaires covered the following dimensions: Function, Activity and Participation of the International Classification of Functioning Disability and Health. Results More than 40% of the respondents experienced pain in one arm or both the arms. Increased pain and stiffness scores and longer disease duration were associated with increased limitation scores. For basic activities, lifting the arm above shoulder-level was most frequently reported as most limited, coherent with the clinical picture of FSHD. Among the respondents, 50% indicated restrictions at school, 78% indicated restrictions at work and more than 80% indicated restrictions whilst participating in sports, hobbies, household activities and romantic relationships. Conclusions This study has shown that alongside the well-known problem of lifting the arms above shoulder-level, UE activities below shoulder height during vocational and occupational activities are also problematic in patients with FSHD. Alongside disease duration, pain and stiffness are associated with UE activity limitations. Implications for Rehabilitation Attention is needed for pain and experienced stiffness in the upper extremity as it is frequently present in patients with FSHD. Rehabilitation professionals need to be aware that patients with FSHD not only experience problems with activities above shoulder height, but also with activities below shoulder height. At least 50% of the patients with FSHD experience restrictions in participation as a result of limitations in their UE.

Different profiles of upper limb function in four types of neuromuscular disorders

The aim of this research was to study impairments, activity limitations and participation restrictions due to upper limb involvement in people with four different types of neuromuscular disorders (NMD) - FacioScapuloHumeral Dystrophy (FSHD), Limb-Girdle Muscular Dystrophy (LGMD), Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD) - and to investigate whether common or different profiles could be identified. Total of 267 respondents with NMD from the Netherlands answered a set of questionnaires covering upper limb impairments (pain and stiffness), activity limitations and participation restrictions. Pain was most often reported by persons with FSHD. Problems in the FSHD group were mainly characterized by relatively high scores for pain and stiffness and low scores for activity limitations. People with LGMD reported also low scores for activity limitations. Conversely, people with SMA and DMD experienced in general relatively low scores for pain and stiffness and high scores for activity limitations. Although people with FSHD and LGMD had relatively few activity limitations, all NMD groups experienced restrictions when participating in social activities. Our results indicate specific profiles of upper limb function in different types of NMD. While the profile observed in persons with FSHD seems to reflect overuse, the profile seen in persons with DMD and SMA is suspicious of disuse, each requiring a specific rehabilitation strategy.

An inverse dynamic analysis on the influence of upper limb gravity compensation during reaching

Muscular dystrophies (MDs) are characterized by progressive muscle wasting and weakness. Several studies have been conducted to investigate the influence of arm supports in an attempt to restore arm function. Lowering the load allows the user to employ the residual muscle force for movement as well as for posture stabilization. In this pilot study three conditions were investigated during a reaching task performed by three healthy subjects and three MD subjects: a control condition involving reaching; a similar movement with gravity compensation using braces to support the forearm; an identical reaching movement in simulated zero-gravity. In the control condition the highest values of shoulder moments were present, with a maximum of about 6 Nm for shoulder flexion and abduction. In the gravity compensation and zero gravity conditions the maximum shoulder moments were decreased by more than 70% and instead of increasing during reaching, they remained almost unvaried, fluctuating around an offset value less than 1 Nm. Similarly, the elbow moments in the control condition were the highest with a peak around 3.3 Nm for elbow flexion, while the moments were substantially reduced in the remaining two conditions, fluctuating around offset values between 0 to 0.5 Nm. In conclusion, gravity compensation by lower arm support is effective in healthy subjects and MD subjects and lowers the amount of shoulder and elbow moments by an amount comparable to a zero gravity environment. However the influence of gravity compensation still needs to be investigated on more people with MDs in order to quantify any beneficial effect on this population.

Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach

Feasible, sensitive and clinically relevant outcome measures are of extreme importance when designing clinical trials. For paediatric mitochondrial disease, no robust end point has been described to date. The aim of this study was to select the domains of daily physical activity, which can be measured by 3D accelerometry, that could serve as sensitive end points in future clinical trials in children with mitochondrial disorders.In this exploratory observational study, 17 patients with mitochondrial disease and 16 age- and sex-matched controls wore 3D accelerometers at the upper leg, upper arm, lower arm and chest during one weekend. Using the raw data obtained by the accelerometers, we calculated the following outcome measures: (1) average amount of counts per hour the sensors were worn; (2) the maximal intensity; (3) the largest area under the curve during 30 min and (4) categorized activities lying, standing or being dynamically active. Measuring physical activity during the whole weekend was practically feasible in all participants. We found good face validity by visually correlating the validation videos and activity diaries to the accelerometer data-graphs. Patients with mitochondrial disorders had significantly lower peak intensity and were resting more, compared to their age- and sex-matched peers.Finally, we suggest domains of physical activity that could be included when measuring daily physical activity in children with mitochondrial disorders, preferably using more user-friendly devices. These include peak activity parameters for the arms (all patients) and legs (ambulatory patients). We recommend using or developing devices that measure these domains of physical activity in future clinical studies.

A Novel Setup and Protocol to Measure the Range of Motion of the Wrist and the Hand

The human hand is important for the performance of activities of daily living which are directly related to quality of life. Various conditions, such as Duchenne muscular dystrophy (DMD) can affect the function of the human hand and wrist. The ability to assess the impairment in the hand and the wrist by measuring the range of motion (ROM), is essential for the development of effective rehabilitation protocols. Currently the clinical standard is the goniometer. In this study we explore the feasibility and reliability of an optical sensor (Leap motion sensor) in measuring active hand/wrist ROM. We measured the hand/wrist ROM of 20 healthy adults with the goniometer and the Leap motion sensor, in order to check the agreement between the two methods and additionally, we performed a test-retest of the Leap motion sensor with 12 of them, to assess its reliability. The results suggest low agreement between the goniometer and the leap motion sensor, yet showing a large decrease in measurement time and high reliability when using the later. Despite the low agreement between the two methods, we believe that the Leap motion sensor shows potential to contribute to the development of hand rehabilitation protocols and be used with patients in a clinical setting.

The modular socket system in a rural setting in Indonesia

Background: Prosthetic services are inaccessible to people living in rural areas. Systems like the modular socket system have the potential to be fabricated outside of the prosthetic workshop. Objectives: This study aimed to evaluate the patient’s performance and satisfaction with the use of the modular socket system, and the technical feasibility of its implementation in a rural setting. Study design: A quantitative longitudinal descriptive study design was followed. Methods: A total of 15 persons with a lower limb amputation were fitted with the modular socket system and followed over 4–6u2009months. Performance was measured using a 2-min walk test, 10-m walk test and mobility and function questionnaire. Satisfaction was measured by the Socket Fit Comfort Score, Prosthesis Evaluation Questionnaire and EuroQoL 5 Dimensions 5 Levels. Notes on technical feasibility were taken at the moment of fitting (t0), at 1–3u2009months post fitting (t1) and at the end evaluation at 4–6u2009months post fitting (t2). Results: Performance did not change between t0 and t2. The comfort of the socket fit reduced between t0 and t2. Satisfaction with prosthesis and general health status stayed constant over time. The average fitting-time for the modular socket system was 6.4u2009h. Conclusion: The modular socket system can be considered a useful alternative for use in rural settings. Clinical relevance The use of the modular socket system is feasible and can improve accessibility to prosthetic technology in rural areas. Experienced prosthetic users were satisfied with the performance and the device. The shorter manufacturing time and use of only hand-held tools makes it an ideal alternative for use in remote and rural settings.