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1.
J Neurophysiol ; 132(3): 770-780, 2024 Sep 01.
Article in English | MEDLINE | ID: mdl-39081210

ABSTRACT

Implicit sensorimotor adaptation keeps our movements well calibrated amid changes in the body and environment. We have recently postulated that implicit adaptation is driven by a perceptual error: the difference between the desired and perceived movement outcome. According to this perceptual realignment model, implicit adaptation ceases when the perceived movement outcome-a multimodal percept determined by a prior belief conveying the intended action, the motor command, and feedback from proprioception and vision-is aligned with the desired movement outcome. Here, we examined the role of proprioception in implicit motor adaptation and perceived movement outcome by examining individuals who experience deafferentation (i.e., individuals with impaired proprioception and touch). We used a modified visuomotor rotation task designed to isolate implicit adaptation and probe perceived movement outcomes throughout the experiment. Surprisingly, both implicit adaptation and perceived movement outcome were minimally impacted by chronic deafferentation, posing a challenge to the perceptual realignment model of implicit adaptation.NEW & NOTEWORTHY We tested six individuals with chronic somatosensory deafferentation on a novel task that isolates implicit sensorimotor adaptation and probes perceived movement outcome. Strikingly, both implicit motor adaptation and perceptual movement outcome were not significantly impacted by chronic deafferentation, posing a challenge for theoretical models of adaptation that involve proprioception.


Subject(s)
Adaptation, Physiological , Proprioception , Psychomotor Performance , Humans , Proprioception/physiology , Adaptation, Physiological/physiology , Male , Female , Psychomotor Performance/physiology , Adult , Middle Aged , Movement/physiology , Aged , Somatosensory Disorders/physiopathology
2.
Lancet ; 397(10289): 2098-2110, 2021 05 29.
Article in English | MEDLINE | ID: mdl-34062144

ABSTRACT

Nociplastic pain is the semantic term suggested by the international community of pain researchers to describe a third category of pain that is mechanistically distinct from nociceptive pain, which is caused by ongoing inflammation and damage of tissues, and neuropathic pain, which is caused by nerve damage. The mechanisms that underlie this type of pain are not entirely understood, but it is thought that augmented CNS pain and sensory processing and altered pain modulation play prominent roles. The symptoms observed in nociplastic pain include multifocal pain that is more widespread or intense, or both, than would be expected given the amount of identifiable tissue or nerve damage, as well as other CNS-derived symptoms, such as fatigue, sleep, memory, and mood problems. This type of pain can occur in isolation, as often occurs in conditions such as fibromyalgia or tension-type headache, or as part of a mixed-pain state in combination with ongoing nociceptive or neuropathic pain, as might occur in chronic low back pain. It is important to recognise this type of pain, since it will respond to different therapies than nociceptive pain, with a decreased responsiveness to peripherally directed therapies such as anti-inflammatory drugs and opioids, surgery, or injections.


Subject(s)
Chronic Pain/epidemiology , Inflammation/complications , Somatosensory Disorders/physiopathology , Anxiety/diagnosis , Anxiety/etiology , Chronic Pain/therapy , Cognitive Dysfunction/diagnosis , Cognitive Dysfunction/etiology , Depression/diagnosis , Depression/etiology , Environmental Illness/diagnosis , Environmental Illness/etiology , Fatigue/diagnosis , Fatigue/etiology , Female , Fibromyalgia/diagnosis , Fibromyalgia/etiology , Humans , Low Back Pain/diagnosis , Low Back Pain/etiology , Male , Neuralgia/diagnosis , Neuralgia/therapy , Nociceptive Pain/diagnosis , Nociceptive Pain/therapy , Sleep Wake Disorders/diagnosis , Sleep Wake Disorders/etiology , Somatosensory Disorders/diagnosis , Somatosensory Disorders/etiology , Tension-Type Headache/diagnosis , Tension-Type Headache/etiology
3.
J Neurosci ; 40(11): 2228-2245, 2020 03 11.
Article in English | MEDLINE | ID: mdl-32001612

ABSTRACT

Sensory cortex exhibits receptive field plasticity throughout life in response to changes in sensory experience and offers the experimental possibility of aligning functional changes in receptive field properties with underpinning structural changes in synapses. We looked at the effects on structural plasticity of two different patterns of whisker deprivation in male and female mice: chessboard deprivation, which causes functional plasticity; and all deprived, which does not. Using 2-photon microscopy and chronic imaging through a cranial window over the barrel cortex, we found that layer 2/3 neurones exhibit robust structural plasticity, but only in response to whisker deprivation patterns that cause functional plasticity. Chessboard pattern deprivation caused dual-component plasticity in layer 2/3 by (1) increasing production of new spines that subsequently persisted for weeks and (2) enlarging spine head sizes in the preexisting stable spine population. Structural plasticity occurred on basal dendrites, but not apical dendrites. Both components of plasticity were absent in αCaMKII-T286A mutants that lack LTP and experience-dependent potentiation in barrel cortex, implying that αCaMKII autophosphorylation is not only important for stabilization and enlargement of spines, but also for new spine production. These studies therefore reveal the relationship between spared whisker potentiation in layer 2/3 neurones and the form and mechanisms of structural plasticity processes that underlie them.SIGNIFICANCE STATEMENT This study provides a missing link in a chain of reasoning that connects LTP to experience-dependent functional plasticity in vivo We found that increases in dendritic spine formation and spine enlargement (both of which are characteristic of LTP) only occurred in barrel cortex during sensory deprivation that produced potentiation of sensory responses. Furthermore, the dendritic spine plasticity did not occur during sensory deprivation in mice lacking LTP and experience-dependent potentiation (αCaMKII autophosphorylation mutants). We also found that the dual-component dendritic spine plasticity only occurred on basal dendrites and not on apical dendrites, thereby resolving a paradox in the literature suggesting that layer 2/3 neurones lack structural plasticity in response to sensory deprivation.


Subject(s)
Calcium-Calmodulin-Dependent Protein Kinase Type 2/physiology , Dendritic Spines/physiology , Neuronal Plasticity/physiology , Neurons/enzymology , Sensory Deprivation/physiology , Somatosensory Cortex/physiopathology , Animals , Calcium-Calmodulin-Dependent Protein Kinase Type 2/deficiency , Calcium-Calmodulin-Dependent Protein Kinase Type 2/genetics , Cell Size , Dendritic Spines/ultrastructure , Female , Male , Mice , Mice, Inbred C57BL , Neurons/ultrastructure , Phosphorylation , Protein Processing, Post-Translational , Skin Window Technique , Somatosensory Cortex/cytology , Somatosensory Disorders/physiopathology , Vibrissae/injuries , Vibrissae/innervation
4.
J Sports Sci ; 39(sup1): 99-108, 2021 Aug.
Article in English | MEDLINE | ID: mdl-33586628

ABSTRACT

The purpose of para sport classification systems is to minimize the impact of impairment on competition outcome. Currently, athletes with intellectual impairment (II) compete in one class, regardless of the extent of activity limitation resulting from their impairment. Consequently, athletes with II that cause relatively minor difficulty in sport have a competitive advantage over athletes who have intellectual impairments that cause more significant advantage. This research investigated the efficacy of a measure of health-related functional impairment, derived from the World Health Organization International Classification of Functioning, Disability, and Health (ICF), as a tool to classify athletes with intellectual impairments (II) into groups with impairments that cause similar activity limitation. The first study used a Delphi technique to identify the most relevant codes within the ICF from which a measure of impairment presence and severity was derived. The second study investigated whether the measure could discriminate between groups of II athletes organized into three competition groups, and whether these groups could be predicted by ICF score. The ICF-based questionnaire shows promise as a conceptual approach and as a tool in this context, but this is a preliminary step before establishing a sport-specific approach to classification.


Subject(s)
Athletic Performance/classification , Intellectual Disability/classification , Para-Athletes/classification , Persons with Mental Disabilities/classification , Surveys and Questionnaires , Adult , Advisory Committees/organization & administration , Body Temperature/physiology , Comorbidity , Delphi Technique , Disability Evaluation , Female , Humans , Intellectual Disability/physiopathology , Intelligence Tests , Internationality , Male , Mobility Limitation , Para-Athletes/psychology , Severity of Illness Index , Somatosensory Disorders/physiopathology , Sports for Persons with Disabilities/classification , Swimming/classification , Tennis/classification , Track and Field/classification , World Health Organization
5.
J Stroke Cerebrovasc Dis ; 30(8): 105882, 2021 Aug.
Article in English | MEDLINE | ID: mdl-34077822

ABSTRACT

We draw attention to a unique presentation, severe unilateral loss of limb proprioception, in patients with medullary and rostral spinal cord infarction. Two patients developed acute severe proprioceptive loss in the limbs ipsilateral to infarcts that involved the caudal medulla and rostral spinal cord. They also had symptoms and signs often found in lateral medullary infarction. The proprioceptive loss is attributable to injury to the gracile and cuneate nuclei and/or their projections to the medial lemniscus. The infarct territory is supplied by the posterior spinal branches of the vertebral artery near its penetration into the posterior fossa. The presence of severe ipsilateral proprioceptive loss in a patient with features of lateral medullary infarction indicates involvement of the rostral spinal cord.


Subject(s)
Extremities/innervation , Lateral Medullary Syndrome/complications , Medulla Oblongata/blood supply , Proprioception , Somatosensory Disorders/etiology , Spinal Cord Vascular Diseases/complications , Spinal Cord/blood supply , Female , Humans , Lateral Medullary Syndrome/diagnostic imaging , Lateral Medullary Syndrome/physiopathology , Lateral Medullary Syndrome/rehabilitation , Male , Recovery of Function , Severity of Illness Index , Somatosensory Disorders/diagnosis , Somatosensory Disorders/physiopathology , Somatosensory Disorders/rehabilitation , Spinal Cord Vascular Diseases/diagnostic imaging , Spinal Cord Vascular Diseases/physiopathology , Spinal Cord Vascular Diseases/rehabilitation , Stroke Rehabilitation , Treatment Outcome
6.
Stroke ; 51(11): 3371-3374, 2020 11.
Article in English | MEDLINE | ID: mdl-32993462

ABSTRACT

BACKGROUND AND PURPOSE: Research suggests that women and men may present with different transient ischemic attack (TIA) and stroke symptoms. We aimed to explore symptoms and features associated with a definite TIA/stroke diagnosis and whether those associations differed by sex. METHODS: We completed a retrospective cohort study of patients referred to The Ottawa Hospital Stroke Prevention Clinic in 2015. Exploratory multinomial logistic regression was used to evaluate candidate variables associated with diagnosis and patient sex. Backwards elimination of the interaction terms with a significance level for staying in the model of 0.25 was used to arrive at a more parsimonious model. RESULTS: Based on 1770 complete patient records, sex-specific differences were noted in TIA/stroke diagnosis based on features such as duration of event, suddenness of symptom onset, unilateral sensory loss, and pain. CONCLUSIONS: This preliminary work identified sex-specific differences in the final diagnosis of TIA/stroke based on common presenting symptoms/features. More research is needed to understand if there are biases or sex-based differences in TIA/stroke manifestations and diagnosis.


Subject(s)
Amaurosis Fugax/physiopathology , Aphasia/physiopathology , Dysarthria/physiopathology , Hemianopsia/physiopathology , Ischemic Attack, Transient/diagnosis , Paresis/physiopathology , Somatosensory Disorders/physiopathology , Aged , Aged, 80 and over , Carotid Stenosis/epidemiology , Cohort Studies , Female , Humans , Ischemic Attack, Transient/epidemiology , Ischemic Attack, Transient/physiopathology , Male , Middle Aged , Pain/physiopathology , Retrospective Studies , Sex Factors , Smoking/epidemiology , Time Factors
7.
J Neurophysiol ; 124(3): 868-882, 2020 09 01.
Article in English | MEDLINE | ID: mdl-32783597

ABSTRACT

Task-level goals such as maintaining standing balance are achieved through coordinated muscle activity. Consistent and individualized groupings of synchronously activated muscles can be estimated from muscle recordings in terms of motor modules or muscle synergies, independent of their temporal activation. The structure of motor modules can change with motor training, neurological disorders, and rehabilitation, but the central and peripheral mechanisms underlying motor module structure remain unclear. To assess the role of peripheral somatosensory input on motor module structure, we evaluated changes in the structure of motor modules for reactive balance recovery following pyridoxine-induced large-fiber peripheral somatosensory neuropathy in previously collected data in four adult cats. Somatosensory fiber loss, quantified by postmortem histology, varied from mild to severe across cats. Reactive balance recovery was assessed using multidirectional translational support-surface perturbations over days to weeks throughout initial impairment and subsequent recovery of balance ability. Motor modules within each cat were quantified by non-negative matrix factorization and compared in structure over time. All cats exhibited changes in the structure of motor modules for reactive balance recovery after somatosensory loss, providing evidence that somatosensory inputs influence motor module structure. The impact of the somatosensory disturbance on the structure of motor modules in well-trained adult cats indicates that somatosensory mechanisms contribute to motor module structure, and therefore may contribute to some of the pathological changes in motor module structure in neurological disorders. These results further suggest that somatosensory nerves could be targeted during rehabilitation to influence pathological motor modules for rehabilitation.NEW & NOTEWORTHY Stable motor modules for reactive balance recovery in well-trained adult cats were disrupted following pyridoxine-induced peripheral somatosensory neuropathy, suggesting somatosensory inputs contribute to motor module structure. Furthermore, the motor module structure continued to change as the animals regained the ability to maintain standing balance, but the modules generally did not recover pre-pyridoxine patterns. These results suggest changes in somatosensory input and subsequent learning may contribute to changes in motor module structure in pathological conditions.


Subject(s)
Muscle, Skeletal/physiology , Nerve Fibers, Myelinated/pathology , Neurons, Afferent/pathology , Peripheral Nervous System Diseases/physiopathology , Postural Balance/physiology , Recovery of Function/physiology , Somatosensory Disorders/physiopathology , Animals , Cats , Disease Models, Animal , Electromyography , Nerve Fibers, Myelinated/drug effects , Neurons, Afferent/drug effects , Peripheral Nervous System Diseases/chemically induced , Pyridoxine/pharmacology , Somatosensory Disorders/chemically induced , Vitamin B Complex/pharmacology
8.
Cerebrovasc Dis ; 49(1): 10-18, 2020.
Article in English | MEDLINE | ID: mdl-32023607

ABSTRACT

The symptoms related to insular ischemia have been the object of several studies in patients affected by stroke, although they are often accompanied by other ischemic alteration of adjacent brain structures supplied by the middle cerebral artery (MCA). The insula is vulnerable because of an ischemia due to thromboembolic vascular occlusion of the M1 MCA segment and the 2 main MCA branches (M2), mainly when they abruptly arise from the principal stem at a right angle. This topographical and anatomical peculiarity could enable an embolic formation, especially due to atrial fibrillation (AF), to occlude the transition pathway between M1 and M2, while the proximal origin of vascular supply protects the insula from ischemia due to hemodynamic factors. The aim of the study is to characterize the clinical aspects of acute ischemic strokes as a first event in the insular territory with specific attention to atypical manifestation. We have considered 233 patients with a first event stroke involving the insular territory and 13 cases of isolated insular stroke (IIS), from the stroke registry of the Policlinico "G.Martino", University of Messina, between the February 10, 2014 and the February 7, 2018. IIS patients showed CT/MRI lesions restricted to the insular region. Exclusion criteria were coexisting neurological diseases, structural brain lesions, extension to the subinsular area >50% of the total infarct volume. We identified 13 IIS patients (mean age 74 years), with an isolated symptom or a combination of typical and atypical aspects. Furthermore, we observed high frequency detection of cardiac disturbances. To our knowledge, just a few previous studies have described IIS; their incidence is still not well defined. IIS manifested with a combination of deficits including motor, somatosensory, speaking, coordination, autonomic and cognitive disturbances. After an ischemic stroke, AF manifestation could follow briefly the major event and its duration could be very short, as an autonomic dysfunction due to an insular infarction. This clinical condition requires a continuous cardiac monitoring for this dangerous occurrence.


Subject(s)
Cerebral Cortex/blood supply , Cerebrovascular Circulation , Stroke/complications , Aged , Aged, 80 and over , Aphasia/etiology , Aphasia/physiopathology , Aphasia/psychology , Ataxia/etiology , Ataxia/physiopathology , Ataxia/psychology , Atrial Fibrillation/etiology , Atrial Fibrillation/physiopathology , Autonomic Nervous System/physiopathology , Cerebral Cortex/diagnostic imaging , Cerebral Cortex/physiopathology , Cognition Disorders/etiology , Cognition Disorders/physiopathology , Cognition Disorders/psychology , Disability Evaluation , Female , Humans , Italy , Magnetic Resonance Imaging , Male , Middle Aged , Motor Activity , Prognosis , Registries , Somatosensory Disorders/etiology , Somatosensory Disorders/physiopathology , Somatosensory Disorders/psychology , Stroke/diagnostic imaging , Stroke/physiopathology , Stroke/therapy , Tomography, X-Ray Computed
9.
J Peripher Nerv Syst ; 25(2): 184-190, 2020 06.
Article in English | MEDLINE | ID: mdl-32297385

ABSTRACT

Cold intolerance and pain can be a substantial problem in patients with peripheral nerve injury. We aimed at investigating the relationships among sensory recovery, cold intolerance, and neuropathic pain in patients affected by upper limb peripheral nerve injury (Sunderland type V) treated with microsurgical repair, followed by early sensory re-education. In a cross-sectional clinical study, 100 patients (male/female 81/19; age 40.5 ± 14.8 years and follow-up 17 ± 5 months, mean ± SD), with microsurgical nerve repair and reconstruction in the upper extremity and subsequent early sensory re-education, were evaluated, using Cold Intolerance Symptoms Severity questionnaire-Italian version (CISS-it, cut-off pathology >30/100 points), CISS questionnaire-12 item version (CISS-12, 0-46 points-grouping: healthy that means no cold intolerance [0-14], mild [15-24], moderate [25-34], severe [35-42], very severe [43-46] cold intolerance), probability of neuropathic pain (DouleurNeuropathique-4; [DN4] 4/10), deep and superficial sensibility, tactile threshold (monofilaments), and two-point discrimination (cutoff S2; Medical Research Council scale for sensory function; [MRC-scale]). A high CISS score is associated with possible neuropathic pain (DN4 ≥ 4). Both a low CISS-it score (ie, < 30) and DN4 < 4 is associated with good sensory recovery (MRC ≥ 2). In conclusion patients affected by upper limb peripheral nerve injuries with higher CISS scores more often suffer from cold intolerance and neuropathic pain, and the better their sensory recovery is, the less likely they are to suffer from cold intolerance and neuropathic pain.


Subject(s)
Cold Temperature , Neuralgia , Peripheral Nerve Injuries , Somatosensory Disorders , Upper Extremity , Adult , Cross-Sectional Studies , Female , Humans , Male , Microsurgery , Middle Aged , Neuralgia/etiology , Neuralgia/physiopathology , Neuralgia/rehabilitation , Neuralgia/surgery , Neurological Rehabilitation , Neurosurgical Procedures , Peripheral Nerve Injuries/complications , Peripheral Nerve Injuries/physiopathology , Peripheral Nerve Injuries/rehabilitation , Peripheral Nerve Injuries/surgery , Severity of Illness Index , Somatosensory Disorders/etiology , Somatosensory Disorders/physiopathology , Somatosensory Disorders/rehabilitation , Somatosensory Disorders/surgery , Upper Extremity/physiopathology , Upper Extremity/surgery
10.
Somatosens Mot Res ; 37(2): 117-124, 2020 06.
Article in English | MEDLINE | ID: mdl-32295464

ABSTRACT

Purpose: We planned this study to bring attention to the somatosensory impairments in patients with multiple sclerosis (PwMS) and to investigate relationship of somatosensory impairments with dynamic postural stability and upper extremity motor function.Methods: Seven males and 23 females, 30 patients with mean EDSS 2.9 (SD = 1.4), aged between 18 and 65 years (mean = 41.43 ± 14.90 years) were included in this clinical study. Light touch sensorial assessment was made with Semmes Weinstein monofilament test and proprioception by distal proprioception test. Hand strength was measured by the Jamar dynamometer, fine motor skill was examined with nine-hole peg test, functional reach test in sitting and standing position was applied. Nottingham Extended Activities of Daily Living Scale (NEADLS) was used to measure everyday activities.Results: We found a negative and moderate correlation between FRT in standing and light touch of the middle of the heel (right: -0.515), metatarsal bone (right r: 0.453, left r: -0.426), and medial of the foot (right r: -0.462). There was a negative and moderate correlation between NEADLS and light touch of the metatarsal bone (right r: -0.564, left r: -0.472), medial of the foot (right r: -0.531, left r: -0.479), and lateral of the foot (right r: -0.526). We found a positive and moderate correlation between proprioception of the ankle (right r: 0.421 left r: 0.588) and NEADLS.Conclusions: We found impairment in light touch and proprioception and, associations between sensorial functions and dynamic postural stability in PwMS. Also impaired sensorial functions cause dependent patients in daily living activities. In the assessment of balance and falling risk, independency in daily living activities; foot light touch and proprioception sense should be taken into account, hence it may provide guidance in planning rehabilitation programmes.Abbreviations: MS: multiple sclerosis; PwMS: patients with multiple sclerosis; VAS: visual analogue scale; FRT: functional reach test; 9-HPT: Nine-hole peg test; EDSS: The Expanded Disability Status Scale; NEADLS: Nottingham Extended Activities of Daily Living Scale.


Subject(s)
Lower Extremity/physiopathology , Motor Activity/physiology , Multiple Sclerosis/physiopathology , Postural Balance/physiology , Proprioception/physiology , Somatosensory Disorders/physiopathology , Touch/physiology , Upper Extremity/physiopathology , Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Multiple Sclerosis/complications , Somatosensory Disorders/etiology , Young Adult
11.
Curr Pain Headache Rep ; 24(2): 3, 2020 Jan 24.
Article in English | MEDLINE | ID: mdl-31981018

ABSTRACT

PURPOSE OF THE REVIEW: Although visual and somatosensory disturbances are the most common migraine aura (MA) symptoms, patients can also experience other symptoms during their MA. The aim of this review is to provide an overview of studies that report symptoms of dysphasia and other higher cortical dysfunctions (HCDs) during MA, as well as to determine the frequency of HCDs. RECENT FINDINGS: Five studies met the inclusion criteria, corresponding to 697 patients overall. The most frequently reported HCDs were those of the language group (range 10-53%). The occurrence of visual HCDs was noted in 12-40 patients, somatosensory HCDs in 12-20%, and memory disturbances in 10-22% of the patients during MAs. MA is associated with a wide range of neurological symptoms, including symptoms of HCD. A better strategy for investigation of the HCD symptoms is needed to correctly stratify patients thus allowing meaningful studies of aura pathophysiology.


Subject(s)
Aphasia/diagnosis , Aphasia/physiopathology , Cerebral Cortex/physiopathology , Migraine with Aura/diagnosis , Apraxias/diagnosis , Apraxias/physiopathology , Humans , Memory Disorders/diagnosis , Memory Disorders/physiopathology , Migraine with Aura/physiopathology , Somatosensory Disorders/diagnosis , Somatosensory Disorders/physiopathology
12.
Hum Brain Mapp ; 40(10): 2995-3009, 2019 07.
Article in English | MEDLINE | ID: mdl-30891844

ABSTRACT

Proprioceptive and motor impairments commonly occur after stroke. Relationships between corticospinal tract (CST) fractional anisotropy (FA) and motor recovery have been identified. However, the relationship between sensory tract microstructure and proprioceptive recovery remains unexplored. Using probabilistic tractography, we examined the relationship between diffusion metrics in three tracts known to contain proprioceptive information (a) dorsal-column medial-lemniscal (DCML), (b) postcentral gyrus to supramarginal gyrus (POCG-SMG), (c) postcentral gyrus to Heschl's gyrus (POCG-HG) and proprioception at 1 (n = 26) and 6 months (n = 19) poststroke. Proprioception was assessed using two robotic tasks. Motor performance was also assessed robotically and compared to CST diffusion metrics. At 1-month poststroke, a nonsignificant relationship (r = -0.43, p = 0.05) was observed between DCML-FA and proprioceptive impairment. A moderate relationship was identified between POCG-SMG FA and POCG-HG FA and proprioceptive impairment (r = -0.47, p = 0.001 and r = -0.51, p = 0.008, respectively). No relationships were significant at 6 months poststroke. Similar to previous studies, lower CST-FA correlated with motor impairment at 1 month poststroke (r = -0.58, p = 0.002). While CST-FA is considered a predictor of motor impairment, our findings suggest that the relationship between FA and tracts containing proprioceptive information is not as straightforward and highlights the importance of sensory association areas in proprioception.


Subject(s)
Proprioception/physiology , Psychomotor Performance/physiology , Pyramidal Tracts/physiopathology , Stroke/physiopathology , Adult , Aged , Aged, 80 and over , Diffusion Tensor Imaging , Female , Humans , Image Processing, Computer-Assisted , Male , Middle Aged , Somatosensory Disorders/etiology , Somatosensory Disorders/physiopathology , Stroke/complications
13.
J Med Genet ; 55(6): 359-371, 2018 Jun.
Article in English | MEDLINE | ID: mdl-29618507

ABSTRACT

The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication. Most of the patients (93%) shared similar facial features, which evolved with age (midface hypoplasia, narrow and prominent nasal bridge, thick lower lip, large prominent ears), thick hair, livedo of the limbs, tapered fingers, small feet and vasomotor troubles. Early hypotonia and global DD were constant, with 21% of patients unable to walk. In patients able to stand, lower limbs weakness and spasticity led to a singular standing habitus: flexion of the knees, broad-based stance with pseudo-ataxic gait. Scoliosis was frequent (53%), such as divergent strabismus (76%) and hypermetropia (54%), stereotypic movements (89%), without obvious social withdrawal and decreased pain sensitivity (78%). Most of the patients did not develop expressive language, 35% saying few words. Epilepsy was frequent (59%), with a mean onset around 7.4 years of age, and often (62%) drug-resistant. Other medical issues were frequent: constipation (78%), and recurrent infections (89%), mainly lung. We delineate the clinical phenotype of MECP2 duplication syndrome in a large series of 59 males. Pulmonary hypertension appeared as a cause of early death in these patients, advocating its screening early in life.


Subject(s)
Exotropia/genetics , Hypertension, Pulmonary/genetics , Intellectual Disability/genetics , Mental Retardation, X-Linked/genetics , Methyl-CpG-Binding Protein 2/genetics , Adolescent , Adult , Child , Child, Preschool , Chromosomes, Human, X/genetics , Developmental Disabilities/complications , Developmental Disabilities/genetics , Developmental Disabilities/physiopathology , Epilepsy/complications , Epilepsy/genetics , Epilepsy/physiopathology , Exotropia/complications , Exotropia/physiopathology , France/epidemiology , Humans , Hyperopia/complications , Hyperopia/genetics , Hyperopia/physiopathology , Hypertension, Pulmonary/complications , Hypertension, Pulmonary/physiopathology , Infant , Intellectual Disability/complications , Intellectual Disability/physiopathology , Male , Mental Retardation, X-Linked/complications , Mental Retardation, X-Linked/physiopathology , Pedigree , Phenotype , Somatosensory Disorders/genetics , Somatosensory Disorders/physiopathology , Stereotypic Movement Disorder/complications , Stereotypic Movement Disorder/genetics , Stereotypic Movement Disorder/physiopathology , Young Adult
14.
Clin Rehabil ; 33(5): 834-846, 2019 May.
Article in English | MEDLINE | ID: mdl-30798643

ABSTRACT

OBJECTIVE: The aim of this study was to evaluate if somatosensory retraining programmes assist people to improve somatosensory discrimination skills and arm functioning after stroke. DATA SOURCES: Nine databases were systematically searched: Medline, Cumulative Index to Nursing and Allied Health Literature, PsychInfo, Embase, Amed, Web of Science, Physiotherapy Evidence Database, OT seeker, and Cochrane Library. REVIEW METHODS: Studies were included for review if they involved (1) adult participants who had somatosensory impairment in the arm after stroke, (2) a programme targeted at retraining somatosensation, (3) a primary measure of somatosensory discrimination skills in the arm, and (4) an intervention study design (e.g. randomized or non-randomized control designs). RESULTS: A total of 6779 articles were screened. Five group trials and five single case experimental designs were included ( N = 199 stroke survivors). Six studies focused exclusively on retraining somatosensation and four studies focused on somatosensation and motor retraining. Standardized somatosensory measures were typically used for tactile, proprioception, and haptic object recognition modalities. Sensory intervention effect sizes ranged from 0.3 to 2.2, with an average effect size of 0.85 across somatosensory modalities. A majority of effect sizes for proprioception and tactile somatosensory domains were greater than 0.5, and all but one of the intervention effect sizes were larger than the control effect sizes, at least as point estimates. Six studies measured motor and/or functional arm outcomes ( n = 89 participants), with narrative analysis suggesting a trend towards improvement in arm use after somatosensory retraining. CONCLUSION: Somatosensory retraining may assist people to regain somatosensory discrimination skills in the arm after stroke.


Subject(s)
Somatosensory Disorders/rehabilitation , Stroke Rehabilitation/methods , Stroke/physiopathology , Upper Extremity/physiopathology , Humans , Somatosensory Disorders/physiopathology
15.
Clin Rehabil ; 33(6): 964-979, 2019 Jun.
Article in English | MEDLINE | ID: mdl-30897960

ABSTRACT

OBJECTIVE: This systematic review aimed to investigate the effects of interventions intended for retraining leg somatosensory function on somatosensory impairment, and secondary outcomes of balance and gait, after stroke. DATA SOURCES: Databases searched from inception to 16 January 2019 included Cochrane Library, PubMed, MEDLINE, CINAHL, EMBASE, PEDro, PsycINFO, and Scopus. Reference lists of relevant publications were also manually searched. REVIEW METHODS: All types of quantitative studies incorporating interventions that intended to improve somatosensory function in the leg post stroke were retrieved. The Quality Assessment Tool for Quantitative Studies was used for quality appraisal. Standardised mean differences were calculated and meta-analyses were performed using preconstructed Microsoft Excel spreadsheets. RESULTS: The search yielded 16 studies, comprising 430 participants, using a diverse range of interventions. In total, 10 of the included studies were rated weak in quality, 6 were rated moderate, and none was rated strong. Study quality was predominantly affected by high risk of selection bias, lack of blinding, and the use of somatosensory measures that have not been psychometrically evaluated. A significant heterogeneous positive summary effect size (SES) was found for somatosensory outcomes (SES: 0.52; 95% confidence interval (CI): 0.04 to 1.01; I2 = 74.48%), which included joint position sense, light touch, and two-point discrimination. There was also a significant heterogeneous positive SES for Berg Balance Scale scores (SES: 0.62; 95% CI: 0.10 to 1.14; I2 = 59.05%). Gait SES, mainly of gait velocity, was not significant. CONCLUSION: This review suggests that interventions used for retraining leg somatosensory impairment after stroke significantly improved somatosensory function and balance but not gait.


Subject(s)
Lower Extremity/physiopathology , Somatosensory Disorders/rehabilitation , Stroke Rehabilitation/methods , Gait Disorders, Neurologic/physiopathology , Gait Disorders, Neurologic/rehabilitation , Humans , Postural Balance/physiology , Somatosensory Disorders/physiopathology , Stroke/physiopathology
16.
J Neuroeng Rehabil ; 16(1): 96, 2019 07 25.
Article in English | MEDLINE | ID: mdl-31345240

ABSTRACT

BACKGROUND: Cervical spondylotic myelopathy (CSM) is a degenerative cervical disease in which the spinal cord is compressed. Patients with CSM experience balance disturbance because of impaired proprioception. The weighting of the sensory inputs for postural control in patients with CSM is unclear. Therefore, this study investigated the weighting of sensory systems in patients with CSM. METHOD: Twenty-four individuals with CSM (CSM group) and 24 age-matched healthy adults (healthy control group) were analyzed in this observational study. The functional outcomes (modified Japanese Orthopaedic Association Scale [mJOA], Japanese Orthopaedic Association Cervical Myelopathy Questionnaire [JOACMEQ], Nurick scale) and static balance (eyes-open and eyes-closed conditions) were assessed for individuals with CSM before surgery, 3 and 6 months after surgery. Time-domain and time-frequency-domain variables of the center of pressure (COP) were analyzed to examine the weighting of the sensory systems. RESULTS: In the CSM group, lower extremity function of mJOA and Nurick scale significantly improved 3 and 6 months after surgery. Before surgery, the COP mean velocity and total energy were significantly higher in the CSM group than in the control group for both vision conditions. Compared with the control group, the CSM group exhibited lower energy content in the moderate-frequency band (i.e., proprioception) and higher energy content in the low-frequency band (i.e., cerebellar, vestibular, and visual systems) under the eyes-open condition. The COP mean velocity of the CSM group significantly decreased 3 months after surgery. The energy content in the low-frequency band (i.e., visual and vestibular systems) of the CSM group was closed to that of the control group 6 months after surgery under the eyes-open condition. CONCLUSION: Before surgery, the patients with CSM may have had compensatory sensory weighting for postural control, with decreased weighting on proprioception and increased weighting on the other three sensory inputs. After surgery, the postural control of the patients with CSM improved, with decreased compensation for the proprioceptive system from the visual and vestibular inputs. However, the improvement remained insufficient because the patients with CSM still had lower weighting on proprioception than the healthy adults did. Therefore, patients with CSM may require balance training and posture education after surgery. TRIAL REGISTRATION: Trial Registration number: NCT03396055 Name of the registry: ClinicalTrials.gov Date of registration: January 10, 2018 - Retrospectively registered Date of enrolment of the first participant to the trial: October 19, 2015.


Subject(s)
Postural Balance/physiology , Proprioception/physiology , Recovery of Function/physiology , Spondylosis/physiopathology , Spondylosis/surgery , Adult , Aged , Decompression, Surgical , Female , Humans , Male , Middle Aged , Somatosensory Disorders/etiology , Somatosensory Disorders/physiopathology , Spondylosis/complications , Treatment Outcome
17.
Ideggyogy Sz ; 72(5-6): 165-170, 2019 May 30.
Article in English | MEDLINE | ID: mdl-31241260

ABSTRACT

BACKGROUND AND PURPOSE: Two trait-like characteristics, somatosensory amplification and absorption, have been associated with symptom reports and idiopathic environmental intolerances in past research. Purpose - As the two constructs are not connected with each other, their independent contribution to symptom reports and electromagnetic hypersensitivity, as well as their interaction can be expected. METHODS: On-line questionnaire. Patients - 506 college students completed an on-line questionnaire assessing absorption, somatosensory amplification, negative affect, somatic symptoms, and electromagnetic hypersensitivity. RESULTS: Somatosensory amplification (ß = 0.170, p < 0.001) and absorption (ß = 0.128, p < 0.001) independently contributed to somatic symptoms after controlling for gender and negative affect (R2 = 0.347, p < 0.001). Similarly, somatosensory amplification (OR = 1.082, p < 0.05) and absorption (OR = 1.079, p < 0.01) independently contributed to electromagnetic hypersensitivity after controlling for somatic symptoms, gender, and negative affect (Nagelkerke R2 = 0.134, p < 0.001). However, no interaction effects were found. CONCLUSION: Somatosensory amplification and absorption independently contribute to symptom reports and electromagnetic hypersensitivity. Conclusion - The findings suggest that psychological mechanisms underlying symptom reports and electromagnetic hypersensitivity might be heterogeneous.


Subject(s)
Anxiety/psychology , Electromagnetic Fields/adverse effects , Multiple Chemical Sensitivity/diagnosis , Somatosensory Disorders/psychology , Students/psychology , Anxiety/complications , Anxiety/physiopathology , Humans , Multiple Chemical Sensitivity/etiology , Multiple Chemical Sensitivity/psychology , Somatoform Disorders/psychology , Somatosensory Disorders/complications , Somatosensory Disorders/physiopathology , Surveys and Questionnaires
18.
PLoS Biol ; 13(11): e1002304, 2015.
Article in English | MEDLINE | ID: mdl-26600123

ABSTRACT

Optimal behavior relies on the combination of inputs from multiple senses through complex interactions within neocortical networks. The ontogeny of this multisensory interplay is still unknown. Here, we identify critical factors that control the development of visual-tactile processing by combining in vivo electrophysiology with anatomical/functional assessment of cortico-cortical communication and behavioral investigation of pigmented rats. We demonstrate that the transient reduction of unimodal (tactile) inputs during a short period of neonatal development prior to the first cross-modal experience affects feed-forward subcortico-cortical interactions by attenuating the cross-modal enhancement of evoked responses in the adult primary somatosensory cortex. Moreover, the neonatal manipulation alters cortico-cortical interactions by decreasing the cross-modal synchrony and directionality in line with the sparsification of direct projections between primary somatosensory and visual cortices. At the behavioral level, these functional and structural deficits resulted in lower cross-modal matching abilities. Thus, neonatal unimodal experience during defined developmental stages is necessary for setting up the neuronal networks of multisensory processing.


Subject(s)
Neocortex/physiopathology , Nerve Net/physiopathology , Sensation Disorders/etiology , Sensory Deprivation , Somatosensory Cortex/physiopathology , Somatosensory Disorders/etiology , Animals , Animals, Newborn , Behavior, Animal , Evoked Potentials, Somatosensory , Exploratory Behavior , Female , Male , Neocortex/pathology , Nerve Net/pathology , Neurons/pathology , Rats, Inbred BN , Recognition, Psychology , Sensation Disorders/pathology , Sensation Disorders/physiopathology , Somatosensory Cortex/pathology , Somatosensory Disorders/pathology , Somatosensory Disorders/physiopathology , Touch , Touch Perception , Vibrissae/injuries , Visual Perception
19.
Muscle Nerve ; 58(4): 559-565, 2018 10.
Article in English | MEDLINE | ID: mdl-30028522

ABSTRACT

INTRODUCTION: Static- and moving 2-point discrimination (S2PD, M2PD), 10-g monofilaments- and tuning fork are validated outcome measures of clinical manifestations of diabetes-related neuropathy. No modern statistical techniques have been used to investigate how well these instruments combine to measure sensory loss. METHODS: To grade sensory loss at the feet, we fitted parametric forms of Item Response Theory models to the data of these instruments. RESULTS: The fit statistics indicate that the loss of sensation is gradable, with readily available instruments. S2PD and M2PD are lost first, followed by vibration sense, the 10-g monofilament and the ability to feel a cold stimulus. CONCLUSIONS: This test battery appears to provide sound measurement properties in a group of diabetic patients with diverse amounts of sensory loss. This approach may be used in clinical practice to grade sensory loss reliably and quickly, with instruments that are easy to use. Muscle Nerve 58: 559-565, 2018.


Subject(s)
Diabetic Neuropathies/physiopathology , Foot/innervation , Somatosensory Disorders/physiopathology , Aged , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 2/complications , Diabetic Foot/etiology , Diabetic Foot/physiopathology , Diabetic Neuropathies/diagnosis , Diabetic Neuropathies/etiology , Female , Humans , Logistic Models , Male , Middle Aged , Prospective Studies , Psychometrics , Reproducibility of Results , Severity of Illness Index , Somatosensory Disorders/diagnosis , Somatosensory Disorders/etiology
20.
Muscle Nerve ; 58(4): 583-591, 2018 10.
Article in English | MEDLINE | ID: mdl-30028527

ABSTRACT

INTRODUCTION: Type 1 diabetes mellitus (DM) causes marked skeletal muscle atrophy. Mesenchymal stromal cells (MSC) are an attractive therapy to avoid diabetic complications because of their ability to modify the microenvironment at sites of tissue injury. The objective of this study was to evaluate the effects of MSC transplantation on muscle adaptation caused by diabetes. METHODS: DM was induced by streptozotocin (STZ), and the diabetic animals received systemic MSC transplantation. The von Frey test and footprint analysis were used to assess sensation and sensory motor performance, respectively. Tibialis anterior muscles were investigated by morphology; molecular markers atrogin-1/muscle RING-finger protein-1, nuclear factor κB/p38 mitogen-activated protein kinase, tumor necrosis-like weak inducer of apoptosis/fibroblast growth factor-inducible 14, myostatin, myogenic differentiation 1, and insulin-like growth factor 1 were also assessed. RESULTS: MSC transplantation improved sensation and walking performance and also decreased muscle fibrosis in DM rats by modulating atrogenes but did not prevent muscle atrophy. DISCUSSION: MSCs can reduce muscle and functional complications that result from type 1 DM in rats. Muscle Nerve 58: 583-591, 2018.


Subject(s)
Diabetes Mellitus, Experimental/metabolism , Diabetes Mellitus, Type 1/metabolism , Mesenchymal Stem Cell Transplantation , Muscle, Skeletal/pathology , Muscular Diseases/pathology , Somatosensory Disorders/physiopathology , Animals , Diabetes Mellitus, Experimental/complications , Diabetes Mellitus, Type 1/complications , Disease Models, Animal , Fibrosis , Insulin-Like Growth Factor I/metabolism , Male , Muscle Proteins/metabolism , Muscle, Skeletal/metabolism , Muscle, Skeletal/physiopathology , Muscular Atrophy/metabolism , Muscular Atrophy/pathology , Muscular Diseases/etiology , Muscular Diseases/metabolism , Muscular Diseases/physiopathology , MyoD Protein/metabolism , Myostatin/metabolism , NF-kappa B/metabolism , Rats , Rats, Wistar , SKP Cullin F-Box Protein Ligases/metabolism , Signal Transduction , TWEAK Receptor/metabolism , Touch/physiology , Tripartite Motif Proteins/metabolism , Ubiquitin-Protein Ligases/metabolism , Walking , p38 Mitogen-Activated Protein Kinases/metabolism
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