Learning and transfer in two perceptual-motor skills in Duchenne muscular dystrophy.

The present study examined perceptual-motor learning and its bilateral transfer in Duchenne muscular dystrophy. which is well known as a genetically determined disorder in which muscles gradually degenerate and weaken across age. Mirror-tracing and rotary-pursuit tasks were used to measure perceptual-motor performance in 18 patients with and 28 without (control subjects) the disorder. The results of two experiments indicated that the patients showed learning basically similar to most of the controls. Relatively low performance of these patients seemed to be associated with their kinetic disability, not by deterioration of the mediating process in perceptual-motor coordination.     

Effects of experimentally increased trunk stiffness on thorax and pelvis rotations during walking

Patients with non-specific low back pain, or a similar disorder, may stiffen their trunk, which probably alters their walking coordination. To study the direct effects of increasing trunk stiffness, we experimentally increased trunk stiffness during walking, and compared the results with what is known from the literature about gait coordination with, e.g., low back pain. Healthy subjects walked on a treadmill at 3 speeds (0.5, 1.0 and 1.5 m/s), in three conditions (normal, while contracting their abdominal muscles, or wearing an orthopedic brace that limits trunk motions). Kinematics of the legs, thorax and pelvis were recorded, and relative Fourier phases and amplitudes of segment motions were calculated. Increasing trunk stiffness led to a lower thorax–pelvis relative phase, with both a decrease in thorax–leg relative phase, and an increase in pelvis–leg relative phase, as well as reduced rotational amplitude of thorax relative to pelvis. While lower thorax–pelvis relative phase was also found in patients with low back pain, higher pelvis–leg relative phase has never been reported in patients with low back pain or related disorders. These results suggest that increasing trunk stiffness in healthy subjects causes short-term gait coordination changes which are different from those seen in patients with back pain.     

Classification of gait muscle activation patterns according to knee injury history using a support vector machine approach

Abnormal muscle activation patterns during gait following knee injury that persist past the acute injury and rehabilitation phase (>three years) are not well characterized but may be related to post-traumatic knee osteoarthritis. The aim was to characterize the abnormal muscle activity from electromyograms of five leg muscles that were recorded during treadmill walking for young adults with and without a previous knee injury 3–12 years prior. The wavelet transformed and amplitude normalized electromyograms yielded intensity patterns that reflect the muscle activity of these muscles resolved in time and frequency. Patterns belonging to the affected or unaffected leg in previously injured participants and patterns belonging to a previously injured vs. uninjured participant were grouped and then classified using a principal component analysis followed by a support vector machine. A leave-one-out cross-validation was used to test the model significance and generalization. The results showed that trained classifiers could successfully recognize whether muscle activation patterns belonged to the affected or unaffected leg of previously injured individuals. Classification rates of 83% were obtained for all subjects, 100% for females only, indicating sex-specific knee injury effects. In contrast, it was not possible to discriminate between patterns belonging to the previously injured legs or dominant legs of control subjects. For females, the injured leg showed a stronger muscle activity for hamstring muscles and a lower activity for the vastus lateralis. In conclusion, systematic knee injury effects on the neuromuscular control of the knee during gait were present 3–12 years later.     

Detection, genetic counseling and phenotype prevention of Duchenne muscular dystrophy

Literature data and the own ascertainment of Duchenne muscular dystrophy cases concentrated on the Leipzig county confirm the necessity of early diagnosis and of central registration, search for female carries and genetic counselling. A newborn screening is supported provided that its organization will be practicable. About 12% of Duchenne cases are secondary affections of brothers. It should be possible to prevent one third of all cases by means of counselling also of the female relatives of the mothers. The repeated estimation of serum creatinkinase activity, completed by electromyography, has the greatest practical importance for the identification of heterozygous carriers. For the genetic counselling of definite carriers and women at risk it is possible only to recommend intrauterine sex prediction and the selective abortion of male fetuses.     

Intramuscular electrical stimulation of facial muscles in humans and chimpanzees: Duchenne revisited and extended

The pioneering work of Duchenne (1862/1990) was replicated in humans using intramuscular electrical stimulation and extended to another species (Pan troglodytes: chimpanzees) to facilitate comparative facial expression research. Intramuscular electrical stimulation, in contrast to the original surface stimulation, offers the opportunity to activate individual muscles as opposed to groups of muscles. In humans, stimulation resulted in appearance changes in line with Facial Action Coding System (FACS) action units (AUs), and chimpanzee facial musculature displayed functional similarity to human facial musculature. The present results provide objective identification of the muscle substrate of human and chimpanzee facial expressions- data that will be useful in providing a common language to compare the units of human and chimpanzee facial expression.     

Asymmetrical neural adaptation in lower leg muscles as a consequence of stereotypical motor training

Despite well-authorized facts regarding asymmetrical architectural changes between different limbs after persistent participation in particular motor training, no studies have addressed the neural aspects to the present. The authors undertook the study to elucidate the possibility of neural adaptation on a limb-by-limb basis after repetitive engagement in a particular motor training routine. We investigated lower leg muscles in endurance-trained track runners who have been trained by routinely running on a track in counterclockwise direction on curved paths. Stretch reflex responses in the plantarflexor muscles (soleus [SOL], medial [MG], and lateral head of the gastrocnemius muscle) were evaluated bilaterally with participants sitting at rest. Comparisons were made between homonymous muscles of the right (corresponding to outside leg for track running) and left leg (inside leg, likewise) and with a group of nontrained controls. The result clearly demonstrated that the responses were prominently different between the legs (thus, asymmetrical) in the MG muscles and partially in the SOL muscles in the trained group. In contrast, no such differences were obtained in the nontrained control group. The result demonstrated that neural adaptation took place asymmetrically and that could be attributable to their repetitive engagement in the stereotypical motor task.     

Experiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive degenerative muscular conditions. Carrier testing is available to at-risk females. Though carrier testing is often offered to adolescent females, it raises ethical issues related to autonomy. This study aimed to address the impact of DMD/BMD carrier testing during adolescence, to elucidate what motivates adolescents to seek testing, and to assess the carrier testing experience. Retrospective semi-structured telephone interviews were conducted with 12 women out of 28 initially contacted. Data were coded using thematic analysis. For most (8/12) participants, discovering their carrier status during adolescence appeared to have helped alleviate uncertainty. The majority (9/12) of participants felt that they had made an autonomous decision and most (10/12) seemed to have adjusted well to their test result. Reproductive factors were framed as having been a key motivator prior to testing. However, following testing, participants’ views on prenatal diagnosis seemed more closely linked to their lived experience than to their test result. Just over half (7/12) the participants reported having not had the opportunity for genetic counseling prior to testing and after receiving their result, an issue that warrants further consideration.     

Longitudinal Development of the Automatic Postural Response in Infants

In this longitudinal study, the development of automatic postural responses elicited during stance following perturbation of the support surface was investigated. Infants (N = 9) unable to stand without support were tested initially: follow-up tests were performed until the infants were able to stand and walk independently. Surface electromyographic recordings of leg and trunk muscle activity following a postural perturbation induced by a forward or backward translation of the support surface were made for each infant. Muscle onset latencies following the perturbation and the proportion of trials in which muscle activity was recorded were determined. First, infants activated appropriate muscles either in isolation or in pairs and then combined these muscles into functional synergies. Although activation of all three postural muscles was recorded in infants before they were able to stand and walk independently, the three-muscle response was not consistent in the youngest children. The proportion of trials eliciting muscle activity continued to increase (p <.O5) after infants began to walk independently, with postural muscle activity recorded in virtually every trial by late independent walking. Thus. the automatic postural response elicited during stance was shown to begin with activity in single or paired muscles, followed by activation of the postural muscles in functional synergies. These data illustrate the progressive development of an effective sensory-motor organization.     

Perceptions of Duchenne and non-Duchenne smiles: A meta-analysis

A meta-analysis was conducted to compare perceptions of Duchenne smiles, smiles that include activation of the cheek raiser muscle that creates crow's feet around the eyes, with perceptions of non-Duchenne smiles, smiles without cheek raiser activation. In addition to testing the overall effect, moderator analyses were conducted to test how methodological, stimulus-specific and perceiver-specific differences between studies predicted the overall effect size. The meta-analysis found that, overall, Duchenne smiles and people producing Duchenne smiles are rated more positively (i.e., authentic, genuine, real, attractive, trustworthy) than non-Duchenne smiles and people producing non-Duchenne smiles. The difference between Duchenne and non-Duchenne smiles was greater when the stimuli were videos rather than photographs, when smiles were elicited naturally rather than through posing paradigms and when Duchenne and non-Duchenne smiles were not matched for intensity of the lip corner puller in addition to other perceiver and methodological moderators.     

The Duchenne smile: emotional expression and brain physiology. II

Facial expression, EEG, and self-report of subjective emotional experience were recorded while subjects individually watched both pleasant and unpleasant films. Smiling in which the muscle that orbits the eye is active in addition to the muscle that pulls the lip corners up (the Duchenne smile) was compared with other smiling in which the muscle orbiting the eye was not active. As predicted, the Duchenne smile was related to enjoyment in terms of occurring more often during the pleasant than the unpleasant films, in measures of cerebral asymmetry, and in relation to subjective reports of positive emotions, and other smiling was not.     

Duchenne smile,emotional experience,and autonomic reactivity: a test of the facial feedback hypothesis

This study examined the modulatory function of Duchenne and non-Duchenne smiles on subjective and autonomic components of emotion. Participants were asked to hold a pencil in their mouth to either facilitate or inhibit smiles and were not instructed to contract specific muscles. Five conditions--namely lips pressing, low-level non-Duchenne smiling, high-level non-Duchenne smiling, Duchenne smiling, and control--were produced while participants watched videoclips that were evocative of positive or negative affect. Participants who displayed Duchenne smiles reported more positive experience when pleasant scenes and humorous cartoons were presented. Furthermore, they tended to exhibit different patterns of autonomic arousal when viewing positive scenes. These results support thefacial feedback hypothesis and suggest that facial feedback has more powerful effects when facial configurations represent valid analogs of basic emotional expressions.     

How sleeping neonates smile

Infants over one month of age tend to produce two types of smiling during especially positive social interactions, Duchenne smiles involving cheek raising and open‐mouth smiles. Little is known, however, about the prevalence, frequency, duration and organization of these smiles among neonates. Twenty‐five full‐term, healthy neonates (12 female) were videotaped during six minutes of sleep. Smiles were identified and analysed using an anatomically based coding system (FACS/Baby FACS). One‐half of the neonates showed bilateral Duchenne smiles. One‐quarter of the neonates showed bilateral Duchenne smiles at a mature level of intensity whose median duration was 1? s. By contrast, open‐mouth bilateral smiles occurred in less than one‐tenth of the sample. The contrast between the more frequent bilateral Duchenne smiles and the less frequent open‐mouth smile is discussed in terms of the early synergistic functioning of facial muscles and contrasted with the smiling patterns of older infants.     

Computer tomography studies in myotonic dystrophies

Besides clinical symptoms, progress and electromyography the computer tomography is a possibility for improvement the diagnostic of myotone dystrophy. Even small changes in muscle structure are detectable and especially m. soleus exhibits early and pronounced alterations. By means of density distribution pattern an improved characterization of the disease is possible. Additional informations are obtained by cerebralcomputertomography. Hints for atrophy of brain tissue are expectable at all patients with myotone dystrophy. According to the presented findings the computer tomography enlarges the diagnostic possibilities at myotone dystrophy.     

Strength Training Effects on Muscle Forces and Contributions to Whole-Body Movement in Cerebral Palsy

Strength training is often prescribed for children with cerebral palsy (CP); however, links between strength gains and mobility are unclear. Nine children (age 14?±?3?years; GMFCS I-III) with spastic CP completed a 6-week strength-training program. Musculoskeletal gait simulations were generated for four children to assess training effects on muscle forces and function. There were increases in isometric joint strength, but no statistical changes in fast-as-possible walking speed or endurance after training. The walking simulations revealed changes in muscle forces and contributions to body center of mass acceleration, with greater forces from the hip muscles during walking most commonly observed. A progressive strength-training program can result in isometric and dynamic strength gains in children with CP, associated with variable mobility outcomes.     

Results of EMG analysis using the Polish mini-computer ANOPS

During a study tour of the Neurological Clinic in Warsaw, the automatic EMG analysis procedure by means of the Polish computer ANOPS was tested, standard values worked out and their diagnostic information value tested on patients with neuromuscular diseases. To obtain normal values, leads from four muscles of each of 21 healthy persons were made and the electromyograms of each muscle described by five different parameters. For a differentiated neuromuscular diagnosis it is significant that the computer not only calculates the mean values of each EMG parameter but provides histograms from which further statistical indices and diagnostic information can be obtained.     

Spatial and temporal characteristics of the spine muscles activation during walking in patients with lumbar instability due to degenerative lumbar disk disease: Evaluation in pre-surgical setting

Our purpose was to investigate the spatial and temporal profile of the paraspinal muscle activation during gait in a group of 13 patients with lumbar instability (LI) in a pre-surgical setting compared to the results with those from both 13 healthy controls (HC) and a sample of 7 patients with failed back surgery syndrome (FBSS), which represents a chronic untreatable condition, in which the spine muscles function is expected to be widely impaired.Spatiotemporal gait parameters, trunk kinematics, and muscle activation were measured through a motion analysis system integrated with a surface EMG device. The bilateral paraspinal muscles (longissimus) at L3-L4, L4-L5, and L5-S1 levels and lumbar iliocostalis muscles were evaluated.Statistical analysis revealed significant differences between groups in the step length, step width, and trunk bending and rotation. As regard the EMG analysis, significant differences were found in the cross-correlation, full-width percentage and center of activation values between groups, for all muscles investigated.Patients with LI, showed preserved trunk movements compared to HC but a series of EMG abnormalities of the spinal muscles, in terms of left-right symmetry, top-down synchronization, and spatiotemporal activation and modulation compared to the HC group. In patients with LI some of such EMG abnormalities regarded mainly the segment involved by the instability and were strictly correlated to the pain perception. Conversely, in patients with FBSS the EMG abnormalities regarded all the spinal muscles, irrespective to the segment involved, and were correlated to the disease’s severity. Furthermore, patients with FBSS showed reduced lateral bending and rotation of the trunk and a reduced gait performance and balance.Our methodological approach to analyze the functional status of patients with LI due to spine disease with surgical indications, even in more complex conditions such as deformities, could allow to evaluate the biomechanics of the spine in the preoperative conditions and, in the future, to verify whether and which surgical procedure may either preserve or improve the spine muscle function during gait.     

The Effect of Paired Muscle Stimulation on Preparation for Movement

Paired muscle stimulation is used clinically to facilitate the performance of motor tasks for individuals with motor dysfunction. However, the optimal temporal relationship between stimuli for enhancing movement remains unknown. We hypothesized that synchronous, muscle stimulation would increase the extent to which stimulated muscles are concurrently prepared for movement. We validated a measure of muscle-specific changes in corticomotor excitability prior to movement. We used this measure to examine the preparation of the first dorsal interosseous (FDI), abductor digiti minimi (ADM), abductor pollicis brevis (APB) muscles prior to voluntary muscle contractions before and after paired muscle stimulation at four interstimulus intervals (0, 5, 10, and 75 ms). Paired muscle stimulation increased premovement excitability in the stimulated FDI, but not in the ADM muscle. Interstimulus interval was not a significant factor in determining efficacy of the protocol. Paired stimulation, therefore, did not result in a functional association being formed between the stimulated muscles. Somatosensory potentials evoked by the muscle stimuli were small compared to those commonly elicited by stimulation of peripheral nerves, suggesting that the lack of functional association formation between muscles may be due to the small magnitude of afferent volleys from the stimulated muscles, particularly the ADM, reaching the cortex.     

Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population

Facioscapulohumeral muscular dystrophy (FSHD), is a dominantly inherited, late onset, progressive disease. At present, no treatment or prevention of symptoms are available. There is considerable clinical variability, even within families. The gene whose defect causes FSHD has not been identified, but molecular diagnosis can be made by analyzing D4Z4 repeat length on chromosome 4q35. The results can support or rule out the clinical diagnosis of FSHD, but there are also "gray zone", non-conclusive results. During the years 2000-6, 66 individuals (including 7 asymptomatic individuals), were tested in our institute for D4Z4 repeat number. In 77% of the cases the results were conclusive: two thirds of them supported a diagnosis of FSHD while in a third this diagnosis was ruled out. In 23% the results were in the gray zone. Cognitive involvement was rare, occurring only when the D4Z4 repeat size was very small (<15 kb). Maximal utilization of the existing molecular test for FSHD demands detailed clinical and family pedigree information. We recommend that comprehensive genetic counseling always be given before and after molecular testing for FSHD, in addition to the neurological follow-up. Presymptomatic testing should only be offered when complete molecular evaluation can be offered, including 4qA and 4qB variant analysis.     

Some Characteristics of EMG Patterns During Locomotion

Myoelectric signals from several muscles of the lower limb were studied under various speed and stride length conditions. The main purpose was to determine invariant and variant features among these myoelectric patterns. A pattern recognition algorithm was used to analyze these activity patterns. Within-condition analysis revealed some common features among the EMG patterns. This suggests that the nervous system does not have to generate all the muscle activity patterns, only the common features that can, in appropriate combination, produce the necessary activity patterns. From the across condition analysis, the following rules emerged. First, both phasic component and magnitude (d.c. level) of the muscle activity patterns have to be modulated to meet the demands imposed by the various conditions. Second, the variability in the proximal muscle activity patterns across conditions are higher than the distal muscle activity patterns. Within each group, the extensor muscles and double-jointed muscles show greater variability than the flexor muscles and single-jointed muscles. And finally, the changes in the average value (d.c. level) of the muscle activity patterns across conditions are not uniform but show muscle and task specificity. For example, within the speed condition, the increase in d.c. level of the extensors with speed of locomotion show a proximal to distal trend. Based on these results, a conceptual model for the human locomotor control process is proposed.     

Some characteristics of EMG patterns during locomotion: implications for the locomotor control process

Myoelectric signals from several muscles of the lower limb were studied under various speed and stride length conditions. The main purpose was to determine invariant and variant features among these myoelectric patterns. A pattern recognition algorithm was used to analyze these activity patterns. Within-condition analysis revealed some common features among the EMG patterns. This suggests that the nervous system does not have to generate all the muscle activity patterns, only the common features that can, in appropriate combination, produce the necessary activity patterns. From the across condition analysis, the following rules emerged. First, both phasic component and magnitude (d.c. level) of the muscle activity patterns have to be modulated to meet the demands imposed by the various conditions. Second, the variability in the proximal muscle activity patterns across conditions are higher than the distal muscle activity patterns. Within each group, the extensor muscles and double-jointed muscles show greater variability than the flexor muscles and single-jointed muscles. And finally, the changes in the average value (d.c. level) of the muscle activity patterns across conditions are not uniform but show muscle and task specificity. For example, within the speed condition, the increase in d.c. level of the extensors with speed of locomotion show a proximal to distal trend. Based on these results, a conceptual model for the human locomotor control process is proposed.