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Objective Hereditary spastic paraplegia (HSP) is characterized by a bilaterally spastic gait pattern. During gait, increased trunk movements are often observed. People with HSP likely generate trunk movements to improve foot clearance and step length, but there may be additional explanations. Here, we investigate whether there is an association between reduced balance performance and increased trunk movements, as an increase in trunk movements may partly reflect balance correcting strategies. Methods We analyzed an historic cohort of 86 people with HSP who underwent gait analysis and balance examination. Two researchers reviewed gait analyses videos and classified the observed trunk movement as (1) normal, (2) moderately increased, or (3) markedly increased, and categorized participants as ‘toe walkers’ (yes/no). Balance performance and spatiotemporal gait parameters were collected from the medical files. Parameters were compared between people with normal vs. moderately increased trunk movements, moderately vs. markedly increased trunk movements, and normal vs. markedly increased trunk movements. Results Patients with moderately increased trunk movements during gait scored lower on the Berg Balance Scale (p = 0.002) and/or the Mini Balance Evaluation Test (p = 0.043) than patients with normal trunk movements. Likewise, patients with markedly increased trunk movements performed worse on the BBS (p = 0.037) and/or the Mini-BESTest (p = 0.004) than patients with moderately increased trunk movements. Patients with markedly increased trunk movements were more often toe walkers than patients with moderately increased (68% vs. 6%; p Conclusions We found an association between increased trunk movements and reduced balance capacity. This may have several—not mutually exclusive—explanations. One of these explanations is that trunk movements, at least partly, reflect balance correcting strategies. With the disease progression, ankle strategies and foot placement strategies become impaired and insufficient to restore balance after intrinsic perturbations. Hip strategies are then potentially recruited to maintain balance, resulting in increased trunk movements.

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Corticospinal lesions cause impairments in voluntary motor control. Recent findings suggest that some degree of voluntary control may be taken over by a compensatory pathway involving the reticulospinal tract. In humans, evidence for this notion mainly comes from StartReact studies. StartReact is the acceleration of reaction times by a startling acoustic stimulus (SAS) simultaneously presented with the imperative stimulus. As previous StartReact studies mainly focused on isolated single-joint movements, the question remains whether the reticulospinal tract can also be utilized for controlling whole-body movements. To investigate reticulospinal control, we applied the StartReact paradigm during gait initiation in 12 healthy controls and 12 patients with ‘pure’ hereditary spastic paraplegia (HSP; i.e., retrograde axonal degeneration of corticospinal tract). Participants performed three consecutive steps in response to an imperative visual stimulus. In 25% of 16 trials a SAS was applied. We determined reaction times of muscle (de)activation, anticipatory postural adjustments (APA) and steps. Without SAS, we observed an overall delay in HSP patients compared to controls. Administration of the SAS accelerated tibialis anterior and rectus femoris onsets in both groups, but more so in HSP patients, resulting in (near-)normal latencies. Soleus offsets were accelerated in controls, but not in HSP patients. The SAS also accelerated APA and step reaction times in both groups, yet these did not normalize in the HSP patients. The reticulospinal tract is able to play a compensatory role in voluntary control of whole-body movements, but seems to lack the capacity to inhibit task-inappropriate muscle activity in patients with corticospinal lesions.

A startling acoustic stimulus (SAS) involuntary releases prepared movements at accelerated latencies, known as the StartReact effect. Previous work has demonstrated intact StartReact in paretic upper extremity movements in people after stroke, suggesting preserved motor preparation. The question remains whether motor preparation of lower extremity movements is also unaffected after stroke. Here, we investigated StartReact effects on ballistic lower extremity movements and on automatic postural responses (APRs) following perturbations to standing balance. These APRs are particularly interesting as they are critical to prevent a fall following balance perturbations, but show substantial delays and poor muscle coordination after stroke. Twelve chronic stroke patients and 12 healthy controls performed voluntary ankle dorsiflexion movements in response to a visual stimulus, and responded to backward balance perturbations evoking APRs. Twenty-five percent of all trials contained a SAS (120 dB) simultaneously with the visual stimulus or balance perturbation. As expected, in the absence of a SAS muscle and movement onset latencies at the paretic side were delayed compared to the non-paretic leg and to controls. The SAS accelerated ankle dorsiflexion onsets in both the legs of the stroke subjects and in controls. Following perturbations, the SAS accelerated bilateral APR onsets not only in controls, but for the first time, we also demonstrated this effect in people after stroke. Moreover, APR inter- and intra-limb muscle coordination was rather weak in our stroke subjects, but substantially improved when the SAS was applied. These findings show preserved movement preparation, suggesting that there is residual (subcortical) capacity for motor recovery.

Item does not contain fulltext 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 (1-35 years) 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 70% of the respondents experienced UE limitations when performing social activities. Despite the existence of UE impairments, only 9% 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.

Contains fulltext : 139087.pdf (Publisher’s version ) (Closed access) In this study, we investigated the effect of dopaminergic medication on reactive stepping responses to forward and backward balance perturbations in patients with moderately severe Parkinson's disease (PD). Twelve PD patients, Hoehn and Yahr stage ranging from 2 to 3, and 15 healthy controls were exposed to multidirectional translational stance perturbations on a moveable platform. Perturbations were unpredictable in terms of amplitude, timing and direction. Patients were tested in the medication ON and OFF (at least 12 h of dopaminergic medication withdrawal) state on two separate days. Forward and backward stepping responses were quantified in terms of (1) presence, onset and amplitude of anticipatory postural adjustments (APAs); (2) spatiotemporal step variables (step onset, length and velocity); and (3) leg inclination angle at first stepping-foot contact. When perturbed forward, patients performed worse than controls in terms of step length (0.32 +/- 0.07 vs. 0.38 +/- 0.05 m, p = 0.01) and step velocity (1.21 +/- 0.16 vs. 1.37 +/- 0.13 m/s, p = 0.01), while step onset was not different. The number of steps with an APA was larger in patients in the OFF state than in controls which was, however, only significant after forward perturbations (43 vs. 20 %, p = 0.01). Following backward perturbations, leg angles at foot contact were smaller in patients compared to controls (-2.71 degrees +/- 4.29 degrees vs. 0.26 degrees +/- 2.80 degrees , p = 0.04) reflecting a poorer mechanical efficiency of the step. Dopaminergic medication had no significant effect on any of these outcomes. In conclusion, dopaminergic medication does not improve underscaling of stepping responses in PD. Therefore, other interventions are needed to improve these important defense postural reactions.

Item does not contain fulltext Hereditary spastic paraplegia (HSP) is characterized by progressive lower extremity spasticity and weakness, due to retrograde axonal degeneration of the corticospinal tract and posterior spinal columns. HSP patients fall frequently. We hypothesized that delayed postural responses contribute to their balance impairments. To distinguish between a delay in afferent and efferent signals, we combined postural responses with a startling acoustic stimulus (SAS). The SAS triggers a postural response directly, bypassing afferent proprioceptive input. We performed two experiments. First, 18 HSP patients and nine healthy controls stood on a balance platform and were instructed to counteract forward and backward balance perturbations, without taking a step or grabbing a handrail. Second, 12 HSP patients and nine controls received backward perturbations, while a SAS accompanied onset of platform motion in 25 % of trials. HSP patients were less successful than controls in maintaining balance following backward and forward perturbations. Furthermore, latencies of postural responses were significantly delayed in HSP-patients, by 34 ms in gastrocnemius following forward, and by 38 ms in tibialis anterior following backward perturbations. A SAS accelerated postural responses in all participants, but more so in HSP patients whose latencies were normalized. Our results suggest that delayed postural responses in HSP patients contribute to their balance problems. Combining balance perturbations with a SAS restored normal latencies, suggesting that conduction of efferent signals (presumably by the reticulospinal tract) is normal. We therefore suggest that the delayed postural responses in HSP are caused by slowed conduction time via the posterior spinal columns.

Contains fulltext : 127317.pdf (Publisher’s version ) (Closed access) Dysphagia is reported in advanced stages of Duchenne muscular dystrophy (DMD). The population of DMD is changing due to an increasing survival. We aimed to describe the dysphagia in consecutive stages and to assess the underlying mechanisms of dysphagia in DMD, in order to develop mechanism based recommendations for safe swallowing. In this cross-sectional study, participants were divided into: early and late ambulatory stage (AS, n = 6), early non-ambulatory stage (ENAS, n = 7), and late non-ambulatory stage (LNAS, n = 11). Quantitative oral muscle ultrasound was performed to quantify echo intensity. Swallowing was assessed with a video fluoroscopic swallow study, surface electromyography (sEMG) of the submental muscle group and tongue pressure. Differences in outcome parameters among the three DMD stages were tested with analysis of variance. Oral muscles related to swallowing were progressively affected, starting in the AS with the geniohyoid muscle. Tongue (pseudo) hypertrophy was found in 70 % of patients in the ENAS and LNAS. Oral phase problems and post-swallow residue were observed, mostly in the LNAS with solid food. sEMG and tongue pressure data of swallowing solid food revealed the lowest sEMG amplitude, the longest duration and lowest tongue pressure in the LNAS. In case of swallowing problems in DMD, based on the disturbed mechanisms of swallowing, it is suggested to (1) adjust meals in terms of less solid food, and (2) drink water after meals to clear the oropharyngeal area.

Item does not contain fulltext Decreased tongue strength (TS) might herald bulbar involvement in patients with amyotrophic lateral sclerosis (ALS) well before dysarthria or dysphagia occur, and as such might be prognostic of short survival. The purpose of this study was to investigate the prognostic value of a decreased TS, in addition to other prognostic factors, such as site of onset, bulbar symptoms, bulbar signs, age, sex, maximum phonation time, time from symptoms to diagnosis, and gastrostomy, for survival time in patients with ALS. TS was measured in four directions in 111 patients who attended the diagnostic outpatient motor neuron clinic of our university hospital. Of these patients, 54 were diagnosed with ALS. TS was considered abnormal if the strength in minimally one direction was at least two standard deviations below the reference values obtained from comparable age category and sex-groups of healthy controls (n = 119). Twenty of the patients with ALS had a decreased TS. Multivariable analysis showed that, in addition to age, TS was an independent prognostic factor for survival time in patients with ALS.

Contains fulltext : 168263.pdf (Publisher’s version ) (Open Access) Preserving upper extremity (UE) function in patients with Duchenne muscular dystrophy (DMD) is extremely important as it is related to independence and quality of life. For clinical decision making, knowledge of variables associated with UE function is necessary. This knowledge is, however, limited. Therefore, this study aims to gain more insight into the variables associated with UE function in DMD. Data from an international web-based questionnaire on UE function, obtained from 213 DMD patients, were used. Six dependent variables regarding UE function were used in multivariable linear regression analyses. In addition, 26 independent variables regarding patient characteristics, medication, therapy, supportive aids, pain, stiffness and participation were used. Twelve independent variables showed a significant relation to UE function. Variables with a negative relation to UE function were: later disease stage, occurrence of scoliosis, higher age, use of UE splints, more frequent stiffness complaints, more limitations due to stiffness, more frequent elbow pain, and having physical therapy. A positive relation with UE function was seen for going to school or work, use of corticosteroids, higher BMI, and higher age at diagnosis. These variables explained 56-81 % of the variation of the different measures of UE function. Knowledge of variables associated with UE function is very important in the clinical management of DMD patients. The results of this study suggest that corticosteroid use and participation in school and work related activities are positively related to UE function in DMD patients, as well as reducing pain and stiffness and preventing scoliosis.

Item does not contain fulltext The objective of this study is to investigate the value of dual-task performance for the prediction of falls inpatients with Parkinson's disease (PD). Two hundred sixty three patients with PD (H&Y 1-3, 65.2 +/- 7.9 years)walked two times along a 10-m trajectory, both under single-task and dual-task (DT) conditions (combined with an auditory Stroop task). To control for a cueing effect, Stroop stimuli were presented at variable or fixed 1- or 2-s intervals. The auditory Stroop task was also performed alone. Dual-task costs were calculated for gait speed, stride length, stride time, stride time variability, step and stride regularity, step symmetry and Stroop composite scores(accuracy/reaction time). Subsequently, falls were registered prospectively for 1 year (monthly assessments). Patients were categorized as non-recurrent fallers (no or 1 fall) or recurrent fallers ([1 falls). Recurrent fallers (35%) had a significantly higher disease severity, lower MMSE scores, and higher Timed ''Up & Go'' test scores than non recurrent fallers. Under DT conditions, gait speed and stride lengths were significantly decreased. Stride time, stride time variability, step and stride regularity, and step symmetry did not change under DT conditions. Stroop dual-task costs were only significant for the 2-s Stroop interval trials. Importantly, recurrent fallers did not show different dual-task costs compared to non-recurrent fallers on any of the gait or Stroop parameters. These results did not change after correction for baseline group differences. Deterioration of gait or Stroop performance under dual task conditions was not associated with prospective falls in this large sample of patients with PD. 8 p.