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Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals.

Since 1981, we have identified 3 patients with mild Brachmann-de Lange syndrome (BDLS) who have had subtle but definite manifestations of the syndrome and mild effects on growth and development. J.G. (B.D. 12/9/72) was first examined at 20 months. He had rather typical craniofacial findings and hirsutism, limitation of full supination of his arms, and brachyclinodactyly of the 5th fingers. IQ was estimated at 65. K.H. (B.D. 10/10/83) was first examined by us at age 9 months and was diagnosed as having "mild" BDLS. At age 5, K.H. has demonstrated relatively normal cognitive development (low average-average IQ of 74) with specific learning problems: weakness of visual-motor skills, delayed expressive language development, and articulation difficulties. At age 7, he was attending a regular 1st grade classroom, with some special education assistance. M.E. (B.D. 4/19/78) was diagnosed at age 10 years as having "mild" BDLS. His physical changes were more subtle than those of the 2 patients above. At age 10, M.E. was in the regular 4th grade classroom receiving special education support. His IQ was in the borderline-low-average range. He had strengths in rote verbal skills, with weaknesses in reading and writing. These 3 patients demonstrate mild BDLS in which characteristic manifestations of the syndrome, particularly craniofacial anomalies, are present and recognizable, but quite subtle, thus making the clinical diagnosis difficult. In addition, the milder physical phenotype is associated with milder cognitive and behavioral consequences.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

Maternal behavior, infant development, and the question of developmental resources.

The natural development of maternal and infant behavior occurs in a dyad characterized by synchrony and reciprocal interactions. Major concepts used to describe and analyze this synchrony were reviewed. It was concluded that the dyad undergoes a developmental progression in which each part of the dyad is both a developing organism and a reliably changing milieu forming part of the extended inheritance of the other. The reliability of inherited resources is rooted in interactions essential to life, such as those used to transfer metabolic needs to dependent offspring; to stimulation (incidentally but necessarily) associated with life-supporting mechanisms; and to perceptual, motor, or learning mechanisms used to extract specific resources from the available milieu. The diverse resources in extended inheritance contribute to the construction of new traits through opportunistic shaping or regulating interactions among them that are unrestricted by their function at earlier stages.

Animals↗

How does transcranial DC stimulation of the primary motor cortex alter regional neuronal activity in the human brain?

Transcranial direct current stimulation (tDCS) of the primary motor hand area (M1) can produce lasting polarity-specific effects on corticospinal excitability and motor learning in humans. In 16 healthy volunteers, O positron emission tomography (PET) of regional cerebral blood flow (rCBF) at rest and during finger movements was used to map lasting changes in regional synaptic activity following 10 min of tDCS (+/-1 mA). Bipolar tDCS was given through electrodes placed over the left M1 and right frontopolar cortex. Eight subjects received anodal or cathodal tDCS of the left M1, respectively. When compared to sham tDCS, anodal and cathodal tDCS induced widespread increases and decreases in rCBF in cortical and subcortical areas. These changes in rCBF were of the same magnitude as task-related rCBF changes during finger movements and remained stable throughout the 50-min period of PET scanning. Relative increases in rCBF after real tDCS compared to sham tDCS were found in the left M1, right frontal pole, right primary sensorimotor cortex and posterior brain regions irrespective of polarity. With the exception of some posterior and ventral areas, anodal tDCS increased rCBF in many cortical and subcortical regions compared to cathodal tDCS. Only the left dorsal premotor cortex demonstrated an increase in movement related activity after cathodal tDCS, however, modest compared with the relatively strong movement-independent effects of tDCS. Otherwise, movement related activity was unaffected by tDCS. Our results indicate that tDCS is an effective means of provoking sustained and widespread changes in regional neuronal activity. The extensive spatial and temporal effects of tDCS need to be taken into account when tDCS is used to modify brain function.

Adult↗

Does trampolining and anaerobic physical fitness affect sleep?

The structure of nocturnal sleep of 16 volunteers, participating in the anaerobic sports of trampolining, dancing, and soccer, was monitored by means of polygraphic recordings. Since trampolining requires the acquisition of unfamiliar patterns of motor coordination, it can be considered as a special form of motor learning, whereas the acquisition of motor skills specific for dancing and soccer can be linked with motor patterns of normal biped locomotion. According to this view, an experimental group of 8 volunteers was formed; they participated in a training course of trampolining. In addition, a control group of 8 subjects was recruited, who engaged in one of the other two anaerobic sports. Subjects who had acquired new motor skills during a 13-wk. program in trampolining showed a statistically significant increase in REM-sleep. By contrast, the 8 subjects of the control group showed no considerable changes in REM-sleep. This suggests that efforts in acquiring new and complex motor patterns activate processes specifically involved in the generation of REM stage during nocturnal sleep.

Adult↗

Learning-related fMRI activation associated with a rotational visuo-motor transformation.

The unique ability to learn transformed or altered visuo-motor relationships during motor learning (visuo-motor transformation learning) has engaged researchers for over a century. Compared to other forms of motor learning (e.g., sequence learning), little is known about plasticity in the cortical and/or subcortical systems involved. We used fMRI to isolate region-specific activation changes during the learning of a visuo-motor (joystick) task under a simple transformation (90 degree rotation of visual feedback). Distributed brain systems were engaged in the learning process. In particular, we found evidence of a learning-dependent transition from early activation of the posterior parietal cortex to later distributed cortico-subcortical-cerebellar responses (in the temporal and occipital cortices, basal ganglia, cerebellum and thalamus). The role of the posterior parietal cortex may relate specifically to the acquisition of the transformation, while that of the fusiform and superior temporal gyri may reflect higher level visual and visuo-spatial processing underlying consolidation. Learning-related increases in cerebellar responses are consistent with its proposed role in the acquisition of internal models of the motor apparatus. These learning-related changes suggest a role for interacting neural systems involving the co-operation of cortico-cortico, cortico-cerebellar and cortico-basal ganglia loops during visuo-motor transformation learning.

Adult↗

Lesions of the Basal forebrain cholinergic system impair task acquisition and abolish cortical plasticity associated with motor skill learning.

The contribution of the basal forebrain cholinergic system in mediating plasticity of cortical sensorimotor representations was examined in the context of normal learning. The effects of specific basal forebrain cholinergic lesions upon cortical reorganization associated with learning a skilled motor task were investigated, addressing, for the first time, the functional consequences of blocking cortical map plasticity. Results demonstrate that disrupting basal forebrain cholinergic function disrupts cortical map reorganization and impairs motor learning. Cholinergic lesions do not impair associative fear learning or overall sensorimotor function. These results support the hypothesis that the basal forebrain cholinergic system may be specifically implicated in forms of learning requiring plasticity of cortical representations.

Acetylcholine↗

Relationship between memory strategies and motor symptoms in Parkinson's disease.

Patients with Parkinson's disease(PD) show a serious decrease in performance on tasks which lack explicit guidelines and which necessitate the subject to develop his or her own strategy. Using the California Verbal Learning Task(CVLT) we have found evidence that this phenomenon becomes also manifest in learning and memory. The goal of the present study on PD was to investigate whether or not there is an intrinsic relationship between PD-specific deviant learning characteristics and the severity of motor symptomatology. The results show, as expected, a significant correlation between the severity of bradykinetic/hypokinetic symptoms and the serial clustering gradient of the CVLT: the more bradykinetic PD patients (n = 48) were, the more they were dependent on the externally guided serial learning strategy. The findings are discussed in the context of our hypothesis that the actual deficit in patients with PD is a deficient processing of ambiguous internal cues.

Cluster Analysis↗

A mathematical model of the cerebellar-olivary system II: motor adaptation through systematic disruption of climbing fiber equilibrium.

The implications for motor learning of the model developed in the previous article are analyzed using idealized Pavlovian eyelid conditioning trials, a simple example of cerebellar motor learning. Results suggest that changes in gr-->Pkj synapses produced by a training trial disrupt equilibrium and lead to subsequent changes in the opposite direction that restore equilibrium. We show that these opposing phases would make the net plasticity at each gr-->Pkj synapse proportional to the change in its activity during the training trial, as influenced by a factor that precludes plasticity when changes in activity are inconsistent. This yields an expression for the component of granule cell activity that supports learning, the across-trials consistency vector, the square of which determines the expected rate of learning. These results suggest that the equilibrium maintained by the cerebellar-olivary system must be disrupted in a specific and systematic manner to promote cerebellar-mediated motor learning.

Animals↗

Cognitive imitation in rhesus macaques.

Experiments on imitation typically evaluate a student's ability to copy some feature of an expert's motor behavior. Here, we describe a type of observational learning in which a student copies a cognitive rule rather than a specific motor action. Two rhesus macaques were trained to respond, in a prescribed order, to different sets of photographs that were displayed on a touch-sensitive monitor. Because the position of the photographs varied randomly from trial to trial, sequences could not be learned by motor imitation. Both monkeys learned new sequences more rapidly after observing an expert execute those sequences than when they had to learn new sequences entirely by trial and error.

Animals↗

Role of the human motor cortex in rapid motor learning.

Recent studies suggest that the human primary motor cortex (M1) is involved in motor learning, but the nature of that involvement is not clear. Here, learning-related changes in M1 excitability were studied with transcranial magnetic stimulation (TMS) while na subjects practiced either a ballistic or a ramp pinch task to the 0.5-Hz beat of a metronome. Subjects rapidly learned to optimize ballistic contractions as indicated by a significant increase in peak pinch acceleration and peak force after the 60-min practice epoch. The increase in force and acceleration was associated with an increase in motor evoked potential (MEP) amplitude in a muscle involved in the training (flexor policis brevis) but not in a muscle unrelated to the task (abductor digiti minimi). MEPs returned to their baseline amplitude after subjects had acquired the new skill, whereas no practice-induced changes in MEP amplitude were observed after subjects had overlearned the task, or after practicing slow ramp pinches. Since the changes in MEP amplitude were observed only after TMS of M1 but not after direct stimulation of the corticospinal tract, these findings indicate task- and effector-specific involvement of human M1 in rapid motor learning.

Adolescent↗

Learning movement sequences with a delayed reward signal in a hierarchical model of motor function.

A key problem in reinforcement learning is how an animal is able to learn a sequence of movements when the reward signal only occurs at the end of the sequence. We describe how a hierarchical dynamical model of motor function is able to solve the problem of delayed reward in learning movement sequences using associative (Hebbian) learning. At the lowest level, the motor system encodes simple movements or primitives, while at higher levels the system encodes sequences of primitives. During training, the network is able to learn a high level motor program composed of a specific temporal sequence of motor primitives. The network is able to achieve this despite the fact that the reward signal, which indicates whether or not the desired motor program has been performed correctly, is received only at the end of each trial during learning. Use of a continuous attractor network in the architecture enables the network to generate the motor outputs required to produce the continuous movements necessary to implement the motor sequence.

Animals↗

Electromyographic study of motor learning for a voice production task.

PURPOSE: This study's broad objective was to examine the effectiveness of surface electromyographic (EMG) biofeedback for motor learning in the voice production domain. The specific objective was to examine whether concurrent or terminal biofeedback would facilitate learning for a relaxed laryngeal musculature task during spoken reading. METHOD: Twenty-two healthy adult speakers were randomly assigned to 1 of 2 groups. One group received real-time EMG waveform displays of muscle activation from bilateral thyrohyoid sites during reading trials (concurrent feedback group). The other group received static terminal EMG waveform displays about activation levels for the same sites on completion of successive trials (terminal feedback group). All participants were instructed to minimize EMG amplitudes from the thyrohyoid sites during phonation in an oral reading task. Signals were also collected from control, orofacial sites, but participants received neither instructions nor feedback for those sites. RESULTS: The pooled data (2 feedback groups x 2 electrode sites) showed that, overall, muscle activation levels did decrease across baseline, training, and no-feedback test phases. However, no clear evidence was seen of reliable changes in the targeted laryngeal muscle activation levels across the phases, for either the concurrent or the terminal feedback groups. Paradoxically, and entirely unanticipated, reliable decreases were seen in muscle activation for the orofacial, no-feedback control sites. Those decreases were equivalent across concurrent and terminal feedback groups. CONCLUSIONS: The unanticipated findings indicate that the provision of biofeedback for a target muscle group facilitated incidental learning in another, untargeted muscle group. Discussion focuses on the possible role of locus of attention in motor learning. Building on literature from other domains, the hypothesis is advanced that attention to muscular contractile force during training trials may suppress intentional learning for attended target sites but may benefit incidental learning for nearby, unattended sites.

Adult↗

Recharging cognition with DC brain polarization.

Electrical direct current (DC) has been applied to the human head throughout history for various reasons and with claims of behavioral effects and clinical benefits. This technique has recently been rediscovered and its effects validated with modern quantitative techniques and experimental designs. Despite the very weak current used, DC polarization applied to specific brain areas can alter verbal fluency, motor learning and perceptual thresholds, and can be used in conjunction with transcranial magnetic stimulation. Compact and safe, this old technique seems poised to allow major advances cognitive science and therapy.

Cerebral Cortex↗

Lumbar segmental 'instability': clinical presentation and specific stabilizing exercise management.

Lumbar segmental instability is considered to represent a significant sub-group within the chronic low back pain population. This condition has a unique clinical presentation that displays its symptoms and movement dysfunction within the neutral zone of the motion segment. The loosening of the motion segment secondary to injury and associated dysfunction of the local muscle system renders it biomechanically vulnerable in the neutral zone. The clinical diagnosis of this chronic low back pain condition is based on the report of pain and the observation of movement dysfunction within the neutral zone and the associated finding of excessive intervertebral motion at the symptomatic level. Four different clinical patterns are described based on the directional nature of the injury and the manifestation of the patient's symptoms and motor dysfunction. A specific stabilizing exercise intervention based on a motor learning model is proposed and evidence for the efficacy of the approach provided.

Biomechanical Phenomena↗

Balance control near the limit of stability in various sensory conditions in healthy subjects and patients suffering from vertigo or balance disorders: impact of sensory input on balance control.

The large inter-individual variability within the normal population, the limited reproducibility due to habituation or fatigue, and the impact of instruction and the subject's motivation, all constitute a major problem in posturography. These aspects hinder reliable evaluation of the changes in balance control in the case of disease and complicate objectivation of the impact of therapy and sensory input on balance control. In this study, we examine whether measurement of balance control near individualized limits of stability and under very challenging sensory conditions might reduce inter- and intra-individual variability compared to the well-known Sensory Organization Test (SOT). To do so, subjects balance on a platform on which instability increases automatically until body orientation or body sway velocity surpasses a safety limit. The maximum tolerated platform instability is then used as a measure for balance control under 10 different sensory conditions. Ninety-seven healthy subjects and 107 patients suffering from chronic dizziness (whiplash syndrome (n = 25), Meniere's disease (n = 28), acute (n = 28) or gradual (n = 26) peripheral function loss) were tested. In both healthy subjects and patients this approach resulted in a low intra-individual variability (< 14.5(%). In healthy subjects and patients, balance control was maximally affected by closure of the eyes and by vibration of the Achilles' tendons. The other perturbation techniques applied (sway referenced vision or platform, cooling of the foot soles) were less effective. Combining perturbation techniques reduced balance control even more, but the effect was less than the linear summation of the effect induced by the techniques applied separately. The group averages of healthy subjects show that vision contributed maximum 37%, propriocepsis minimum 26%, and labyrinths maximum 44% to balance control in healthy subjects. However, a large inter-individual variability was observed. Balance control of each patient group was less than in healthy subjects in all sensory conditions. Similar to healthy subjects, patients also show a large inter-individual variability, which results in a low sensitivity of the test. With the exception of some minor differences between Whiplash and Meniere patients, balance control did not differ between the four patient groups. This points to a low specificity of the test. Balance control was not correlated with the outcome of the standard vestibular examination. This study strengthens our notion that the contribution of the sensory inputs to balance control differs considerably per individual and may simply be due to differences in the vestibular function related to the specific pathology, but also to differences in motor learning strategies in relation to daily life requirements. It is difficult to provide clinically relevant normative data. We conclude that, like the SOT, the current test is merely a functional test of balance with limited diagnostic value.

Adolescent↗

A note on schema and exemplar approaches to motor skill representation in memory.

Given the need for a memory representation of well-learned motor skills, a common assumption in motor behavior is that this knowledge is stored in a central, abstracted form. Active production of motor skills has not been used in experimental designs that have provided empirical support for this view of representation, however. Much of the faith in centralized, abstracted forms of memory representation for motor skills is due to the popularity of Schmidt's schema theory, which has adapted the prototype abstraction model from category learning research to the representation of motor skills. Since schema theory was proposed, however, an alternative view that seriously questions the preeminence of the prototype abstraction model for the central representation of knowledge has arisen in the category learning literature. This particular view, termed the specific exemplar model, has led a number of researchers in cognition to develop mixed models that involve both prototypic abstraction and specific exemplar elements. This note, then, identifies what can be perceived as a gap in the empirical knowledge base in motor behavior and discusses the possibility of using the debate about representation for category learning as a stimulus for initiating a similar investigation into the representation of motor skills. A hypothetical specific exemplar model for the memory representation of motor skills is outlined, and possible empirical comparisons between this model and the schema abstraction model are suggested.

Journal Article↗

Early consolidation in human primary motor cortex.

Behavioural studies indicate that a newly acquired motor skill is rapidly consolidated from an initially unstable state to a more stable state, whereas neuroimaging studies demonstrate that the brain engages new regions for performance of the task as a result of this consolidation. However, it is not known where a new skill is retained and processed before it is firmly consolidated. Some early aspects of motor skill acquisition involve the primary motor cortex (M1), but the nature of that involvement is unclear. We tested the possibility that the human M1 is essential to early motor consolidation. We monitored changes in elementary motor behaviour while subjects practised fast finger movements that rapidly improved in movement acceleration and muscle force generation. Here we show that low-frequency, repetitive transcranial magnetic stimulation of M1 but not other brain areas specifically disrupted the retention of the behavioural improvement, but did not affect basal motor behaviour, task performance, motor learning by subsequent practice, or recall of the newly acquired motor skill. These findings indicate that the human M1 is specifically engaged during the early stage of motor consolidation.

Adult↗

Procedural learning in schizophrenia: further consideration on the deleterious effect of neuroleptics.

Deficits in procedural learning remain a controversial issue in schizophrenia. This may be related to the nature of the neuroleptic treatment of schizophrenic patients as conventional neuroleptics may be more deleterious than new atypical neuroleptics. However, there is no comparative study on the effect of specific neuroleptics on procedural learning. In this study, three groups of patients treated with different neuroleptics were compared to normal controls on two procedural learning tasks. In a visuo-motor task, patients and controls showed similar learning rates, although schizophrenic patients showed generally lower performances than normal controls. However, patients treated with a conventional neuroleptic, but not those treated with the atypical neuroleptics, showed many fluctuations during the initial learning phase. In a problem-solving task, all groups were comparable in performance and learning fluctuations, but learning rates were lower in patients treated with the neuroleptic showing the higher incidence of extrapyramidal symptoms. This suggests that procedural learning abilities may be significantly affected by neuroleptics in schizophrenia, although the effect may differ between tasks and the specific neuroleptics. Fluctuations in the initial learning phase of the visuo-motor task probably results from a frontal dysfunction while reduced learning rates, such as those observed in the problem solving task, may be attributed to a striatal dysfunction. This is concordant with the differential pharmacological actions of the conventional and atypical neuroleptics in these two cerebral areas.

Adult↗