Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

Two families, originally diagnosed as having nonsyndromic X-linked mental retardation (NSXLMR), were reviewed when it was shown that they had a 24-bp duplication (428-45 1dup(24bp)) in the ARX gene [Stromme et al., 2002: Nat Genet 30:441-445]. This same duplication had also been found in three other families: one with X-linked infantile spasms and hypsarrhythmia (X-linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). On review, manifestations of both West and Partington syndromes were found in some individuals from both families. In addition, it was found that one individual had autism and two had autistic behavior, one of whom had epilepsy. The degree of mental retardation ranged from mild to severe. A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 by in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C >T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press]. Evidently all these disorders are expressions of mutations in the same gene. It remains to be seen what proportions of patients with infantile spasms, focal dystonia, autism, epilepsy, and nonsyndromic mental retardation are accounted for by mutations in the ARX gene. (C) 2002 Wiley-Liss, Inc.

Haptic information stabilizes and destabilizes coordination dynamics

Goal-directed, coordinated movements in humans emerge from a variety of constraints that range from 'high-level' cognitive strategies based oil perception of the task to 'low-level' neuromuscular-skeletal factors such as differential contributions to coordination from flexor and extensor muscles. There has been a tendency in the literature to dichotomize these sources of constraint, favouring one or the other rather than recognizing and understanding their mutual interplay. In this experiment, subjects were required to coordinate rhythmic flexion and extension movements with an auditory metronome, the rate of which was systematically increased. When subjects started in extension on the beat of the metronome, there was a small tendency to switch to flexion at higher rates, but not vice versa. When subjects: were asked to contact a physical stop, the location of which was either coincident with or counterphase to the auditor) stimulus, two effects occurred. When haptic contact was coincident with sound, coordination was stabilized for both flexion and extension. When haptic contact was counterphase to the metronome, coordination was actually destabilized, with transitions occurring from both extension to flexion on the beat and from flexion to extension on the beat. These results reveal the complementary nature of strategic and neuromuscular factors in sensorimotor coordination. They also suggest the presence of a multimodal neural integration process-which is parametrizable by rate and context - in which intentional movement, touch and sound are bound into a single, coherent unit.

Effector dynamics of rhythmic wrist activity and its implications for (modeling) bimanual coordination

To examine the role of the effector dynamics of the wrist in the production of rhythmic motor activity, we estimated the phase shifts between the EMG and the task-related output for a rhythmic isometric torque production task and an oscillatory movement, and found a substantial difference (45-52degrees) between the two. For both tasks, the relation between EMG and task-related output (torque or displacement) was adequately reproduced with a physiologically motivated musculoskeletal model. The model simulations demonstrated the importance of the contribution of passive structures to the overall dynamics and provided an account for the observed phase shifts in the dynamic task. Additional simulations of the musculoskeletal model with added load suggested that particular changes in the phase relation between EMG and movement may follow largely from the intrinsic muscle dynamics, rather than being the result of adaptations in the neural control of joint stiffness. The implications of these results are discussed in relation to (models of) interlimb coordination in rhythmic tasks. (C) 2004 Elsevier B.V. All rights reserved.

The preparation of reach to grasp movements in adults with Down syndrome

The aim of this study was to determine the extent to which adults with Down syndrome (DS) are able to utilise advance information to prepare reach to grasp movements. The study comprised ten adults with DS; ten children matched to an individual in the group with DS on the basis of their intellectual ability, and twelve adult controls. The participants used their right hand to reach out and grasp illuminated perspex blocks. Four target blocks were positioned on a table surface, two to each side of the midsagittal plane. In the complete precue condition, participants were provided with information specifying the location of the target. In the partial precue condition, participants were given advance information indicating the location of the object relative to the midsagittal plane (left or right). In the null condition, advance information concerning the position of the target object was entirely ambiguous. It was found that both reaction times and movement times were greater for the participants with DS than for the adults without DS. The reaction times exhibited by individuals with DS in the complete precue condition were lower than those observed in the null condition, indicating that they had utilised advance information to prepare their movements. In the group with DS, when advance information specified only the location of the target object relative to the midline, reaction times were equivalent to those obtained when ambiguous information was given. In contrast, the adults without DS exhibited reaction times that were lower in both the complete and partial precue conditions when compared to the null condition. The pattern of results exhibited by the children was similar to that of the adults without DS. The movement times exhibited by all groups were not influenced by the precue condition. In summary, our findings indicate that individuals with DS are able to use advance information if it specifies precisely the location of the target object in order to prepare a reach to grasp movement. The group with DS were unable, however, to obtain the normal advantage of advance information specifying only one dimension of the movement goal (i.e., the position of an object relative to the body midline). (C) 2001 Elsevier Science B.V. All rights reserved.

Manual asymmetries in the preparation and control of goal-directed movements

The primary purpose of this experiment was to determine if left hand reaction time advantages in manual aiming result from a right hemisphere attentional advantage or an early right hemisphere role in movement preparation. Right-handed participants were required to either make rapid goal-directed movements to small targets or simply lift their hand upon target illumination. The amount of advance information about the target for a particular trial was manipulated by precuing a subset of potential targets prior to the reaction time interval. When participants were required to make aiming movements to targets in left space, the left hand enjoyed a reaction advantage that was not present for aiming in right space: or simple finger lifts. This advantage was independent of the amount or type of advance information provided by the precue. This finding supports the movement planning hypothesis. With respect to movement execution, participants completed their aiming movements more quickly when aiming with their right hand, particularly in right space. This right hand advantage in right space was due to the time required to decelerate the movement and to make feedback-based adjustments late in the movement trajectory. (C) 2001 Academic Press.

The effect of obstacle position on reach-to-grasp movements

Numerous everyday tasks require the nervous system to program a prehensile movement towards a target object positioned in a cluttered environment. Adult humans are extremely proficient in avoiding contact with any non-target objects (obstacles) whilst carrying out such movements. A number of recent studies have highlighted the importance of considering the control of reach-to-grasp (prehension) movements in the presence of such obstacles. The current study was constructed with the aim of beginning the task of studying the relative impact on prehension as the position of obstacles is varied within the workspace. The experimental design ensured that the obstacles were positioned within the workspace in locations where they did not interfere physically with the path taken by the hand when no obstacle was present. In all positions, the presence of an obstacle caused the hand to slow down and the maximum grip aperture to decrease. Nonetheless, the effect of the obstacle varied according to its position within the workspace. In the situation where an obstacle was located a small distance to the right of a target object, the obstacle showed a large effect on maximum grip aperture but a relatively small effect on movement time. In contrast, an object positioned in front and to the right of a target object had a large effect on movement speed but a relatively small effect on maximum grip aperture. It was found that the presence of two obstacles caused the system to decrease further the movement speed and maximum grip aperture. The position of the two obstacles dictated the extent to which their presence affected the movement parameters. These results show that the antic ipated likelihood of a collision with potential obstacles affects the planning of movement duration and maximum grip aperture in prehension.

Hand positioning sense in children with spina bifida myelomeningocele

This study was undertaken to establish whether children with myelomeningocele have abnormal kinaesthesia of the hands. Twenty-one children with myelomeningocele and 21 control children, aged between six and 12 years, were involved in the study. The level of kinaesthetic awareness in the hands was measured by examining the child's ability to copy hand positions, using visual cueing and kinaesthetic cueing. Both accuracy and speed of copying hand gestures were assessed. Children with spina bifida were significantly less accurate in achieving hand positions than the control group (chi((1))(2) 22.60, p < 0.001), with 73% of the children with spina bifida achieving accurate replications compared with 87% in the control group. Furthermore, children with myelomeningocele were shown to be slower than the controls (F-(1,F-2810) = 15.49, p < 0.001). The impaired kinaesthetic awareness found in this study is considered to be one of the factors behind the poor hand function observed in children with myelomeningocele.

The preparation of reach-to-grasp movements in adults, children, and children with movement problems

This study explored the use of advance information in the control of reach-to-grasp movements. The paradigm required participants to reach and grasp illuminated blocks with their right hand. Four target blocks were positioned on a table surface, two each side of the mid-saggital plane. In the complete precue condition, advance information precisely specified target location. In the partial precue condition, advance information indicated target location relative to the midsaggital plane (left or right). In the null condition, the advance information was entirely ambiguous. Participants produced fastest responses in the complete precue condition, intermediate response times in the partial condition, and the slowest responses in the null condition. This result was observed in adults and four groups of children including a group aged 4-6 years. In contrast, children with Developmental Coordination Disorder (DCD, n = 11, aged 7-13 years) showed no advantage of partial precueing. Movement duration was determined by target location but was unaffected by precue condition. Movement duration was a clear function of age apart from children in the DCD group who showed equivalent movement times to those of the youngest children. These findings provide important insights into the control of reach-to-grasp movements and highlight that partial cues are exploited by children as young as 4 years but are not used in situations of abnormal development.

Longitudinal excursion and strain in the median nerve during novel nerve gliding exercises for carpal tunnel syndrome

Nerve and tendon gliding exercises are advocated in the conservative and postoperative management of carpal tunnel syndrome (CTS). However, traditionally advocated exercises elongate the nerve bedding substantially, which may induce a potentially deleterious strain in the median nerve with the risk of symptom exacerbation in some patients and reduced benefits from nerve gliding. This study aimed to evaluate various nerve gliding exercises, including novel techniques that aim to slide the nerve through the carpal tunnel while minimizing strain (sliding techniques). With these sliding techniques, it is assumed that an increase in nerve strain due to nerve bed elongation at one joint (e.g., wrist extension) is simultaneously counterbalanced by a decrease in nerve bed length at an adjacent joint (e.g., elbow flexion). Excursion and strain in the median nerve at the wrist were measured with a digital calliper and miniature strain gauge in six human cadavers during six mobilization techniques. The sliding technique resulted in an excursion of 12.4 mm, which was 30% larger than any other technique (p 0.0002). Strain also differed between techniques (p 0.00001), with minimal peak values for the sliding technique. Nerve gliding associated with wrist movements can be considerably increased and nerve strain substantially reduced by simultaneously moving neighboring joints. These novel nerve sliding techniques are biologically plausible exercises for CTS that deserve further clinical evaluation. © 2007 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 25:972-980, 2007

Movements of feral camels in central Australia determined by satellite telemetry

Movements of two female one-humped camels in central Australia were tracked using satellite telemetry between March 1986 and July 1987. During that time both animals travelled a minimum distance of over 1000 km within a radius of 125 km for one animal, and 200 km for the other. However, their movements were uite punctuated and both animals spent periods of up to several months in rleatively small areas before moving over longer distances to new areas. Both camels moved at greater rates overnight. An activity index, probably measuring feeding rate, declined during the study period for both animals. Patchy and sporadic rainfall may explain some of these results.

Bimanual aiming and overt attention: one law for two hands

Reaching to interact with an object requires a compromise between the speed of the limb movement and the required end-point accuracy. The time it takes one hand to move to a target in a simple aiming task can be predicted reliably from Fitts' law, which states that movement time is a function of a combined measure of amplitude and accuracy constraints (the index of difficulty, ID). It has been assumed previously that Fitts' law is violated in bimanual aiming movements to targets of unequal ID. We present data from two experiments to show that this assumption is incorrect: if the attention demands of a bimanual aiming task are constant then the movements are well described by a Fitts' law relationship. Movement time therefore depends not only on ID but on other task conditions, which is a basic feature of Fitts' law. In a third experiment we show that eye movements are an important determinant of the attention demands in a bimanual aiming task. The results from the third experiment extend the findings of the first two experiments and show that bimanual aiming often relies on the strategic co-ordination of separate actions into a seamless behaviour. A number of the task specific strategies employed by the adult human nervous system were elucidated in the third experiment. The general strategic pattern observed in the hand trajectories was reflected by the pattern of eye movements recorded during the experiment. The results from all three experiments demonstrate that eye movements must be considered as an important constraint in bimanual aiming tasks.

Hitting a moving target: Perception and action in the timing of rapid interceptions

Different interceptive tasks and modes of interception (hitting or capturing) do not necessarily involve similar control processes. Control based on preprogramming of movement parameters is possible for actions with brief movement times but is now widely rejected; continuous perceptuomotor control models are preferred for all types of interception. The rejection of preprogrammed control and acceptance of continuous control is evaluated for the timing of rapidly executed, manual hitting actions. It is shown that a preprogrammed control model is capable of providing a convincing account of observed behavior patterns that avoids many of the arguments that have been raised against it. Prominent continuous perceptual control models are analyzed within a common framework and are shown to be interpretable as feedback control strategies. Although these models can explain observations of on-line adjustments to movement, they offer only post hoc explanations for observed behavior patterns in hitting tasks and are not directly supported by data. It is proposed that rapid manual hitting tasks make up a class of interceptions for which a preprogrammed strategy is adopted-a strategy that minimizes the role of visual feedback. Such a strategy is effective when the task demands a high degree of temporal accuracy.

Combined Railways Union float during Mayday procession 1965 Brisbane Australia

Combined Railways Union float during Mayday procession in 1965, Brisbane, Australia. Banners read Stop menacing hand of Vietnam War and 50,000 people used Beenleigh Southport line in 1963.

Bimanual co-ordination in Parkinson's disease

The basal ganglia may be involved in bimanual co-ordination. Parkinson's disease (which impairs basal ganglia output) is clinically reported to cause difficulties in the performance of co-ordinated bimanual movements. Nevertheless, any bimanual co-ordination difficulties may be task specific, as experimental observations are equivocal. To infer the role of the basal ganglia in co-ordinating the two arms, this study investigated the bimanual co-ordination of patients with Parkinson's disease. Sixteen Parkinson's disease patients and matched control subjects performed a bimanual cranking task, at different speeds (1 and 2 Hz) and phase relationships. All subjects performed the required bimanual in-phase movement on a pair of cranks, at fast (2 Hz) and slow (1 Hz) speeds. However the Parkinson's disease patients were unable to perform the asymmetrical anti-phase movement, in which rotation of the cranks differed by 180 degrees, at either speed; but instead reverted to the in-phase symmetrical movement. For Parkinson's disease patients, performance of the in-phase movement was more accurate and stable when an external timing cue was used; however for anti-phase movement, the external cue accentuated the tendency for patients to revert to more symmetrical, in-phase movements.

The influence of joint position on the dynamics of perception-action coupling

Six right-handed subjects performed rhythmic flexion and extension movements of the index finger in time with an auditory metronome. On each block of trials, the wrist of the response hand was placed in a extended, neutral or flexed position. In the flex-on-the-beat condition, subjects were instructed to coordinate maximum excursion in the direction of finger flexion with each beat of the metronome. In the extend-on-the-beat condition, subjects were instructed to coordinate maximum excursion in the direction of finger extension with each beat of the metronome. The frequency of the metronome was increased from 2.00 Hz to 3.75 Hz in 8 steps (8 s epochs) of 0.25 Hz. During trials prepared in the extend-on-the-beat pattern, all subjects exhibited transitions to either a flex-on-the-beat pattern or to phase wandering as the frequency of pacing was increased. The time at which these transitions occurred was reliably influenced by the position of the wrist. Four subjects exhibited qualitative departures from the flex-on-the-beat pattern at pacing frequencies that were greater than those at which the extend-on-the-beat pattern could be maintained. The lime at which these departures occurred was not influenced by the position of the wrist. These results are discussed with reference to the constraints imposed on the coordination dynamics by the intrinsic properties of the neuromuscular-skeletal system.