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Corticospinal neurons (CSNs) represent the direct cortical outputs to the spinal cord and play important roles in motor control across different species. However, their organizational principle remains unclear. By using a retrograde labeling system, we defined the requirement of CSNs in the execution of a skilled forelimb food-pellet retrieval task in mice. In vivo imaging of CSN activity during performance revealed the sequential activation of topographically ordered functional ensembles with moderate local mixing. Region-specific manipulations indicate that CSNs from caudal or rostral forelimb area control reaching or grasping, respectively, and both are required in the transitional pronation step. These region-specific CSNs terminate in different spinal levels and locations, therefore preferentially connecting with the premotor neurons of muscles engaged in different steps of the task. Together, our findings suggest that spatially defined groups of CSNs encode different movement modules, providing a logic for parallel-ordered corticospinal circuits to orchestrate multistep motor skills.
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Medula Cervical/fisiologia , Destreza Motora , Vias Neurais , Animais , Cálcio/análise , Córtex Cerebral/citologia , Córtex Cerebral/fisiologia , Medula Cervical/citologia , Membro Anterior/fisiologia , Articulações/fisiologia , Camundongos , Camundongos Endogâmicos C57BLRESUMO
This study aimed to investigate the moderating role of aerobic fitness on the effect of acute exercise on improving executive function from both behavioral and cerebral aspects. Thirty-four young individuals with motor skills were divided into high- and low-fitness groups based on their maximal oxygen uptake. Both groups completed 30 min of moderate-intensity aerobic exercise on a power bike. Executive function tests (Flanker, N-back, More-odd-shifting) were performed before and after exercise and functional near-infrared spectroscopy was used to monitor prefrontal cerebral blood flow changes during the tasks. The results indicated significant differences between the two groups regarding executive function. Participants with lower aerobic fitness performed better than their higher fitness counterparts in inhibitory control and working memory, but not in cognitive flexibility. This finding suggests that the aerobic fitness may moderate the extent of cognitive benefits gained from acute aerobic exercise. Furthermore, the neuroimaging data indicated negative activation in the frontopolar area and dorsolateral prefrontal cortex in response to three complex tasks. These findings underscore the importance of considering individual aerobic fitness when assessing the cognitive benefits of exercise and could have significant implications for tailoring fitness programs to enhance cognitive performance.
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Função Executiva , Exercício Físico , Humanos , Memória de Curto Prazo , Circulação Cerebrovascular , Córtex Pré-Frontal DorsolateralRESUMO
Recent studies have shown that a single bout of exercise has acute improvements on various forms of memory, including procedural motor learning, through mechanisms such as the plasticity-promoting effect. This study aimed to examine (1) the acute effects of timing and intensity of aerobic exercise on the acquisition and retention of motor learning in healthy adults, (2) the effect of sleep quality of the night before and after acquisition on motor learning, and (3) the acute effects of low and moderate-intensity aerobic exercise on cognitive functions. Seventy-five healthy adults were divided into five groups: Two groups performed low or moderate intensity aerobic exercise before motor practice; two groups performed low or moderate intensity aerobic exercise after motor practice; the control group only did motor practice. Low- and moderate-intensity exercises consisted of 30 min of running at 57%-63% and 64%-76% of the maximum heart rate, respectively. Motor learning was assessed using a golf putting task. The sleep quality of the night before and after the acquisition was evaluated using the Richard Campbell Sleep Questionnaire. Cognitive function was assessed before and after aerobic exercise using the Paced Auditory Serial Acquisition Task test. Results indicated that all groups demonstrated acquisition, 1-day and 7-day retention at a similar level (p > 0.05). Regression analysis revealed no significant relationship between sleep quality on the night before the experimental day and total acquisition (p > 0.05). However, a positive correlation was found between the sleep quality on the night of the experimental day and both 1-day and 7-day retention (p < 0.05). A single bout of low or moderate acute exercise did not modify motor skill acquisition and retention. Other results showed the importance of night sleep quality on the retention and proved that a single bout of moderate intensity exercise was associated with improved cognitive function.
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This study aimed to review the prevalence of developmental coordination disorder (DCD) in individuals born preterm and systematically explore this prevalence according to gestational age and different assessment cut-offs and compare it to full-term peers. The eligibility criteria were observational and experimental studies reporting the prevalence of DCD in preterm individuals. A systematic search was performed in databases from inception until March 2022. Two independent reviewers performed the selection. Study quality assessment was performed using the checklists from Joanna Briggs Institute (JBI). Data analysis was performed on Excel and Review Manager Software 5.4. Among the 1774 studies identified, 32 matched the eligibility criteria. The pooled estimate rate of the DCD rate in preterm was 21% (95% confidence interval [CI] 17.8-24.3). The estimate rates were higher as gestational age decreased, and preterm children are two times more likely to have DCD than their full-term peers risk ratio (RR) 2.2 (95% CI 1.77-2.79). The limitation was high heterogeneity between studies; the assessment tools, cut-off points and age at assessment were diverse. This study provided evidence that preterm children are at higher risk for DCD than full-term children, and the risks increased as gestational age decreased.
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Recém-Nascido Prematuro , Transtornos das Habilidades Motoras , Humanos , Transtornos das Habilidades Motoras/epidemiologia , Transtornos das Habilidades Motoras/diagnóstico , Recém-Nascido , Criança , Idade GestacionalRESUMO
Phenylketonuria (PKU, OMIM 261600) is a genetic disorder caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH). If left untreated, PKU leads to systemic phenylalanine (Phe) accumulation, which can result in irreversible brain damage and intellectual disabilities. In the last 60 years, early and strict dietary restriction of phenylalanine (Phe) intake proved to prevent the severe clinical phenotype of untreated PKU. While the specific mechanisms through which phenylalanine causes brain damage are still poorly understood, preclinical models have been deeply explored to characterize the neurotoxic effect of Phe on neurodevelopmental processes. At the same time, that on the aging brain still needs to be explored. In the brain of untreated PAHEnu2(-/-) mouse, we previously reported a reduction of myelin basic protein (MBP) during postnatal development up to 60 PND. Later in the diseased mouse's life, a spontaneous and persistent restoration of MBP was detected. In this present longitudinal study, ranging from 14 to 540 post-natal days (PND) of untreated PAHEnu2(-/-) mice, we further investigated: a) the long-life consistency of two Phe-related brain metabolic alterations, such as large neutral amino acids (LNAA) and biogenic amine neurotransmitters' depletion; b) the outcome of locomotor functions during the same life span; c) the integrity of myelin as assessed ex vivo by central (hippocampus) and peripheral (extensor digitorum longus-sciatic nerve) action potential conduction velocities. In contrast with the results of other studies, brain Leu, Ile, and Val concentrations were not significantly altered in the brain PAHEnu2(-/-) mouse. On the other hand, 3-O-Methyldopa (3-OMD, a biomarker of L-DOPA), serotonin, and its associated metabolites were reduced throughout most of the considered time points, with consistent reductions observed prevalently from 14 to 60 PND. Normal saltatory conduction was restored after 60 PND and remained normal at the last examination at 360 PND, resulting nonetheless in a persistent locomotor impairment throughout a lifetime. These new findings contribute to laying the foundations for the preclinical characterization of aging in PKU, confirming neurotransmitter defects as consistent metabolic traits. LNAAs have a minor role, if any, in brain damage pathogenesis. Transient myelin synthesis failure may impact brain connectivity during postnatal development but not nervous signal conduction.
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This paper discusses a longitudinal study with children with Apert syndrome aged between 4 and 11 years. There has long been an interest in the role of fingers in the development of early number skills and arithmetic. As children with Apert syndrome are born with complex fusions of their fingers, they have to undergo several surgical procedures in order to obtain individuated fingers. This has implications for their finger mobility and finger awareness. It has been suggested that children with Apert syndrome have specific difficulties with early number and arithmetic activities. The findings from this study suggest that engaging children with Apert syndrome in activities that develop finger awareness (finger gnosis) and finger mobility (fine motor skills) may have a positive impact on their ability to engage with appropriate mathematics curricula at school. This is relevant to all those involved in the care of children with Apert syndrome and will be of particular relevance to those involved in early childhood and primary education. This study also provides new insights into the role of finger use in the development of skills and understanding in early number and arithmetic.
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An association between exposure to arsenic (As) and neurologic and behavioral effects has been reported in some studies, but no systematic review is available of the evidence linking As in drinking water and neurobehavioral effects after consideration of study quality and potential confounding, with focus on low-level circumstances of exposure. We conducted a systematic review and reported it in compliance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines, through a search of the databases PubMed, Web of Science, Scopus, and Embase. We included in the review the studies reporting results based on exposure from drinking water in humans. Endpoints were heterogeneous across studies, so we classified them into eight broad domains and developed an ad-hoc system to evaluate their methodological quality, based on three tiers. It was not possible to conduct meta-analysis because of the heterogeneity in exposure assessment and in the definition and assessment of outcomes. The search identified 18,518 articles. After elimination of duplicates and irrelevant articles, we retained 106 articles which reported results on As exposure and neurobehavioral effects, of which 22 reported risk estimates from exposure in drinking water (six among adults and 16 among children). None of the studies was conducted blindly. Among the studies in adults, two, which were conducted in highly exposed populations, were classified as high quality. These two studies were broadly consistent in reporting an association between exposure to As and decline in cognitive function; however, they provide no evidence of an association for exposure below 75 µg/L. The four lower-quality studies were based on populations with low exposure; these studies reported associations with inconsistent outcomes, few of which remained statistically significant after adjustment for multiple comparisons. Among the five high-quality studies of children, one reported an association between As in drinking water and intellectual function, whereas none of the other studies reported an association with different neurobehavioral indicators, after adjusting for potential confounders and multiple comparisons. Out of seven intermediate-quality studies, three reported an association with cognitive function or other outcomes; but sources of bias were not adequately controlled. The remaining studies were negative. The four low-quality studies did not contribute to the overall evidence because of methodological limitations. Our assessment of the available literature showed a lack of evidence for a causal association between exposure to As in drinking water and neurobehavioral effects. To clarify whether such an association exists, further studies prospectively evaluating changes in both the concentration of As in drinking water during the life course, and neurobehavioral outcomes, as well as appropriately controlling for potential confounders, are needed.
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Arsênio , Cognição , Água Potável , Exposição Ambiental , Poluentes Químicos da Água , Humanos , Água Potável/química , Arsênio/toxicidade , Poluentes Químicos da Água/toxicidade , Cognição/efeitos dos fármacosRESUMO
BACKGROUND: Promoting physical activity (PA) and fundamental movement skills (FMS) in early childhood is necessary to address the high rates of inactivity in children. Parent support is a determinant of PA in children, however, parental intentions to support are not always translated into behavior resulting in an intention-behavior gap. PURPOSE: Positioned within the multi-process action control (M-PAC) framework, this study used an explanatory concurrent mixed-methods design to explore parents' intentions and support of PA and FMS during early childhood. METHODS: Parents (N=124) of children aged 3-4 years completed an online survey consisting of items assessing reflective (e.g., attitudes), regulatory (e.g., planning), and reflexive (e.g., habit) processes of M-PAC and intentions and support for child PA and FMS. A subset of parents (n=20) completed a semi-structured online interview guided by the M-PAC framework. RESULTS: Significantly more parents intended to support PA (71%) compared with FMS (44%; p<0.001) and successfully translated intentions into action for PA (57%) compared with FMS (27%; p<0.001). Discriminant function analysis showed parent behavior profiles for PA and FMS support were associated with a combination of reflective, regulatory, and reflexive processes, however, these differed based on support behavior. Qualitative findings highlighted parents' differential views on PA and FMS support and contextualized the psychological processes associated with each. CONCLUSIONS: Parent PA support interventions during early childhood should include strategies for supporting FMS. Interventions should prioritize fostering a combination of reflective, regulatory, and reflexive behaviors to translate intentions to support PA and FMS into behavior among parents of young children.
Promoting physical activity (PA) and fundamental movement skills (FMS) in early childhood is necessary to address physical inactivity in young children. Parent support is a known predictor of PA in children, however, parents who intend to support PA do not always follow through with these intentions. This is referred to as the intentionbehavior gap. Applying the theoretical tenets of the multi-process action control framework, this study surveyed 124 parents of children aged 34 years on reflective (e.g., attitudes), regulatory (e.g., planning), and reflexive (e.g., habit) processes, intentions, and behaviors related to parent PA and FMS support. Follow-up interviews were completed with 20 parents to gain a deeper understanding of parent PA and FMS support behaviors. Survey findings showed that parents' intentions and support behaviors for their child's PA and FMS were associated with a combination of reflective, regulatory, and reflexive processes. Interview findings highlighted more favorable parent perspectives toward PA support compared with FMS and further explained the psychological processes associated with each. Future parent PA support interventions during early childhood should include FMS support strategies and foster a combination of reflective, regulatory, and reflexive behaviors to bridge the gap between intentions and support behaviors among parents of young children.
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Exercício Físico , Destreza Motora , Criança , Humanos , Pré-Escolar , Exercício Físico/psicologia , Pais/psicologia , Intenção , AtitudeRESUMO
BACKGROUND: Fundamental motor skills (FMS) and physical fitness (FIT) play important roles in child development and provide a foundation for lifelong participation in physical activity (PA). Unfortunately, many children have suboptimal levels of PA, FMS, and FIT. The Active Learning Norwegian Preschool(er)s (ACTNOW) study investigated the effects of a staff-led PA intervention on FMS, FIT, and PA in 3-5-year-old children. METHODS: Preschools in Western Norway having ≥ six 3-4-year-old children were invited (n = 56). Of these, 46 agreed to participate and were cluster-randomized into an intervention (n = 23 preschools [381 children, 3.8 yrs., 55% boys]) or a control group (n = 23 [438, 3.7 yrs., 52% boys]). Intervention preschools participated in an 18-month PA intervention involving a 7-month staff professional development between 2019 and 2022, amounting to 50 h, including face-to-face seminars, webinars, and digital lectures. Primary outcomes in ACTNOW were cognition variables, whereas this study investigated effects on secondary outcomes. FMS was measured through 9 items covering locomotor, object control, and balance skills. FIT was assessed as motor fitness (4 × 10 shuttle-run test) and upper and lower muscular strength (handgrip and standing long jump). PA was measured with accelerometers (ActiGraph GT3X +). All measures took place at baseline, 7-, and 18-month follow-up. Effects were analysed using a repeated measures linear mixed model with child and preschool as random effects and with adjustment for baseline scores. RESULTS: Participants in the intervention preschools showed positive, significant effects for object control skills at 7 months (standardized effect size (ES) = 0.17) and locomotor skills at 18 months (ES = 0.21) relative to controls. A negative effect was found for handgrip strength (ES = -0.16) at 7 months. No effects were found for balance skills, standing long jump, or motor fitness. During preschool hours, sedentary time decreased (ES = -0.18), and light (ES = 0.14) and moderate-to-vigorous PA (ES = 0.16) increased at 7 months, whereas light PA decreased at 18 months (ES = -0.15), for intervention vs control. No effects were found for other intensities or full day PA. CONCLUSIONS: The ACTNOW intervention improved some FMS outcomes and increased PA short-term. Further research is needed to investigate how to improve effectiveness of staff-led PA interventions and achieve sustainable improvements in children's PA, FMS, and FIT. TRIAL REGISTRATION: Clinicaltrials.gov, identifier NCT04048967 , registered August 7, 2019. FUNDING: ACTNOW was supported by the Research Council of Norway (grant number 287903), the County Governor of Sogn og Fjordane, the Sparebanken Sogn og Fjordane Foundation, and the Western Norway University of Applied Sciences.
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Exercício Físico , Destreza Motora , Aptidão Física , Humanos , Masculino , Feminino , Noruega , Pré-Escolar , Promoção da Saúde/métodos , Desenvolvimento Infantil , Desenvolvimento de Pessoal/métodos , Força da MãoRESUMO
BACKGROUND: Active outdoor play is important for children's health and development, and playgrounds provide good places for play. However, the importance of playground use for health and well-being is unclear. Our scoping review aims to create an overview of all research on playground use and health benefits for children. METHODS: Scopus, Web of Science, SportDiscus, and PsycInfo were searched using two search blocks, focusing on 'playground' and 'children' respectively, for publications from 2000 to November 2023. The primary inclusion criterion was examining the relationship between playground use and positive physical, mental, or social health outcomes. Only papers published in English were reviewed. For each publication, we synthesized and condensed the results, categorizing them by playground setting, reported health outcome, participant age group, study design, methodologies, publication's country, year, and 'stage of evidence'. RESULTS: Data from 247 studies were extracted and nearly 80% of these publications were descriptive or exploratory studies. Fifty-two were intervention studies. Adding playground markings to schoolyards led to increased physical activity. Greening schoolyards had mainly positive effects on social and mental health. In Early Childhood Education and Care, renewing play structures had a positive effect on physical activity in three publications. All Public Open Space interventions we found were different, with mixed effects on health outcomes. CONCLUSIONS: The existing evidence provides good arguments for policy makers, city planners and school-leaders to invest in adding playground markings in schoolyards as this will likely result in more physical activity. The evidence for the health benefits of investing in new play structures indicated that tailoring the playground to local needs is important as 'one size does not fit all' and playgrounds need to be designed as engaging and interesting places for children's play if they are to generate health benefits. Investing in 'greening' playgrounds is likely to result in social and mental health benefits for children, but does not always result in more physical activity. The research field needs more efficacy and effectiveness studies, and in particular replication and scale-up studies to demonstrate which type of playground interventions are successful. PROTOCOL: The review protocol was registered at Open Science Framework ( https://doi.org/10.17605/OSF.IO/UYN2V ).
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Saúde da Criança , Exercício Físico , Promoção da Saúde , Jogos e Brinquedos , Humanos , Criança , Promoção da Saúde/métodos , Parques Recreativos , Instituições Acadêmicas , Pré-Escolar , Saúde MentalRESUMO
INTRODUCTION: Early motor development has been found to be a predictor of exercise behavior in children and adolescents, but whether this reflects a causal effect or confounding by genetic or shared environmental factors remains to be established. METHODS: For 20,911 complete twin pairs from the Netherlands Twin Register a motor development score was obtained from maternal reports on the timing of five motor milestones. During a 12-year follow-up, subsamples of the mothers reported on the twins' ability to perform seven gross motor skills ability (N = 17,189 pairs), and weekly minutes of total metabolic equivalents of task (MET) spent on sports and exercise activities at age 7 (N = 3632 pairs), age 10 (N = 3735 pairs), age 12 (N = 7043 pairs), and age 14 (N = 3990 pairs). Multivariate phenotypic and genetic regression analyses were used to establish the predictive strength of the two motor development traits for future exercise behavior, the contribution of genetic and shared environmental factors to the variance in all traits, and the contribution of familial confounding to the phenotypic prediction. RESULTS: Significant heritability (h2) and shared environmental (c2) effects were found for early motor development in boys and girls (h2 = 43-65%; c2 = 16-48%). For exercise behavior, genetic influences increased with age (boys: h2age7 = 22% to h2age14 = 51%; girls: h2age7 = 3% to h2age14 = 18%) paired to a parallel decrease in the influence of the shared environment (boys: c2age7 = 68% to c2age14 = 19%; girls: c2age7 = 80% to c2age14 = 48%). Early motor development explained 4.3% (p < 0.001) of the variance in future exercise behavior in boys but only 1.9% (p < 0.001) in girls. If the effect in boys was due to a causal effect of motor development on exercise behavior, all of the factors influencing motor development would, through the causal chain, also influence future exercise behavior. Instead, only the genetic parts of the regression of exercise behavior on motor development were significant. Shared and unique environmental parts of the regression were largely non-significant, which is at odds with the causal hypothesis. CONCLUSION: No support was found for a direct causal effect in the association between rapid early motor development on future exercise behavior. In boys, early motor development appears to be an expression of the same genetic factors that underlie the heritability of childhood and early adolescent exercise behavior.
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Comportamento do Adolescente , Meio Ambiente , Adolescente , Criança , Feminino , Humanos , Masculino , Exercício Físico , Mães , Gêmeos/genéticaRESUMO
We analyzed the changes in various motor function scores over a four-year period in patients with non-ambulatory spinal muscular atrophy (SMA) during Nusinersen treatment. Patients underwent Hammersmith Infant Neurological Examination (HINE) or Hammersmith Functional Motor Scale Expanded (HFMSE) before treatment, and approximately every 4 months thereafter. Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) or Children's Hospital of Philadelphia - Adult Test of Neuromuscular Disorders (CHOP ATEND), Revised Upper Limb Module (RULM), and Motor Function Measure (MFM) were performed based on baseline functional status. Narrative interviews were conducted to explore post-treatment physical improvement regarding activities of daily living (ADLs) and fatigue after ADLs. Based on HFMSE results, 9 patients achieved minimum clinically important differences. Average rates of change (slopes) with corresponding 95% confidence intervals for all assessment tools were in a positive direction. CHOP-INTEND showed the most prominent improvement in children and adolescents followed by HFMSE. Improvements in CHOP-ATEND were most noticeable in adults. Improvements were accompanied by changes in ADLs as observed in the narrative interviews. It is necessary to consider various functional aspects to determine the effectiveness of Nusinersen therapy. The objective assessment of the therapeutic effect of Nusinersen in non-ambulatory SMA requires consideration of functional aspects and the related ADLs.
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Atrofia Muscular Espinal , Oligonucleotídeos , Humanos , Masculino , Feminino , Oligonucleotídeos/uso terapêutico , Atrofia Muscular Espinal/tratamento farmacológico , Criança , Pré-Escolar , Adolescente , República da Coreia/epidemiologia , Adulto , Lactente , Resultado do Tratamento , Atividades Cotidianas , Adulto JovemRESUMO
Children with neurodevelopmental disorders (NDDs) often display motor problems that may impact their daily lives. Studying specific motor characteristics related to spatiotemporal control may inform us about the mechanisms underlying their challenges. Fifty-eight children with varying neurodevelopmental symptoms load (median age: 5.6 years, range: 2.7-12.5 years) performed an interactive tablet-based tracking task. By investigating digit touch errors relative to the target's movement direction, we found that a load of neurodevelopmental symptoms was associated with reduced performance in the tracking of abrupt alternating directions (zigzag) and overshooting the target. In contrast, reduced performance in children without neurodevelopmental symptoms was associated with lagging behind the target. Neurodevelopmental symptom load was also associated with reduced flexibility in correcting for lateral deviations in smooth tracking (spiral). Our findings suggest that neurodevelopmental symptoms are associated with difficulties in motor regulation related to inhibitory control and reduced flexibility, impacting motor control in NDDs.
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Transtornos do Neurodesenvolvimento , Criança , Humanos , Pré-Escolar , MovimentoRESUMO
Differences in organization of the primary motor cortex and altered trunk motor control (sensing, processing and motor output) have been reported in people with low back pain (LBP). Little is known to what extent these differences are related. We investigated differences in 1) organization of the primary motor cortex and 2) motor and sensory tests between people with and without LBP, and 3) investigated associations between the organization of the primary motor cortex and motor and sensory tests. We conducted a case-control study in people with (N=25) and without (N=25) LBP. The organization of the primary motor cortex (Center of Gravity (CoG) and Area of the cortical representation of trunk muscles) was assessed using neuronavigated transcranial magnetic stimulation, based on individual MRIs. Sensory tests (quantitative sensory testing, graphaesthesia, two-point discrimination threshold) and a motor test (spiral-tracking test) were assessed. Participants with LBP had a more lateral and lower location of the CoG and a higher temporal summation of pain. For all participants combined, better vibration test scores were associated with a more anterior, lateral, and lower CoG and a better two-point discrimination threshold was associated with a lower CoG. A small subset of variables showed significance. Although this aligns with the concept of altered organization of the primary motor cortex in LBP, there is no strong evidence of the association between altered organization of the primary motor cortex and motor and sensory test performance in LBP. Focusing on subgroup analyses regarding pain duration can be a topic for future research.
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Dor Lombar , Imageamento por Ressonância Magnética , Córtex Motor , Estimulação Magnética Transcraniana , Humanos , Córtex Motor/fisiopatologia , Córtex Motor/fisiologia , Masculino , Feminino , Dor Lombar/fisiopatologia , Adulto , Pessoa de Meia-Idade , Estudos de Casos e Controles , Adulto Jovem , Potencial Evocado Motor/fisiologiaRESUMO
OBJECTIVE: Superoxide dismutase 1 (SOD1) is an important antioxidant enzyme whose main function is to neutralise superoxide free radicals in the cytoplasm. Heterozygous variants in SOD1 are responsible for a substantial percentage of familial amyotrophic lateral sclerosis (ALS) cases. Recently, several reports have shown that biallelic loss of SOD1 function results in a novel phenotype called infantile SOD1 deficiency syndrome, which is consistent with a recessive pattern of inheritance and can be distinguished from typical (adult-onset) ALS. METHODS: We documented detailed family histories and clinical data, followed by whole-exome sequencing and family co-segregation analysis through Sanger sequencing. To facilitate comparisons, relevant data from fifteen previously reported patients with SOD1-related neurodevelopmental disorders were included. RESULTS: This study presents a new Turkish family with two affected children exhibiting severe delayed motor development, infancy-onset loss of motor skills, axial hypotonia, tetraspasticity, and impaired cognitive functions. Genetic analysis revealed a novel homozygous frameshift variant in SOD1 (c.248dupG [p.Asp84Argfs*8]), with computational biochemical studies shedding light on the mechanistic aspects of SOD1 dysfunction. CONCLUSIONS: Our findings contribute an affirmative report of a fourth biallelic variant resulting in a severe clinical phenotype, reminiscent of those induced by previously identified homozygous loss-of-function SOD1 variants. This research not only advances our understanding of the pathogenesis of this debilitating neurological syndrome but also aligns with ongoing intensive efforts to comprehend and address SOD1-linked ALS.
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Esclerose Lateral Amiotrófica , Superóxido Dismutase-1 , Criança , Feminino , Humanos , Masculino , Esclerose Lateral Amiotrófica/genética , Sequenciamento do Exoma , Homozigoto , Linhagem , Fenótipo , Superóxido Dismutase-1/genética , Turquia , AdolescenteRESUMO
PURPOSE: Survival rates for children diagnosed with acute lymphoblastic leukemia (ALL) have increased significantly over recent decades, and thus attention shifted toward understanding the adverse effects of cancer treatment. Chemotherapy has side effects that could affect muscle state and diminish motor performance. This scoping review was conducted to map the breadth of evidence for different tools used in fine motor skills assessment, the extent of upper extremity strength, and fine motor performance, highlighting the potential risk factors that may influence these skills. METHODS: In March 2023, full-text studies that examined fine motor performance and/or upper extremity strength were identified via searches in PubMed, Science Direct, Scopus, Web of Science, and PEDro databases. The titles and abstracts of selected studies were screened according to the inclusion and exclusion criteria. RESULTS: The search yielded initial 418 citations and 26 peer-reviewed articles were finally included in the review. Considerable heterogeneity was observed regarding the methods of evaluating fine motor skills. The results of this review indicate that children and adolescents with ALL experienced fine motor limitations and upper extremity weakness either during or after cessation of treatment. CONCLUSION: This scoping review presents a broad overview of the literature addressing fine motor difficulties in the pediatric population with ALL. Results accentuate the need to incorporate strengthening and occupational therapy training to preserve muscle strength and minimize future fine motor problems along the course of chemotherapeutic treatment. Little evidence was reported regarding the risk factors that may impair muscle strength and motor performance.
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Destreza Motora , Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Criança , Destreza Motora/fisiologia , Adolescente , Força Muscular/fisiologia , Antineoplásicos/efeitos adversos , Fatores de Risco , Extremidade Superior/fisiopatologiaRESUMO
PURPOSE: Dragon Boat discipline has become a popular type of physical exercise among women with breast cancer. The present study aims to investigate the effects of Dragon Boat activity on body composition, physical function, and psychosocial aspects (i.e., body appreciation and quality of life [QoL]) in women operated for breast cancer. METHODS: Thirty-one women (age, 57.88 ± 7.88 years; BMI, 27.86 ± 6.38 kg·m-2) with a previous breast removal surgery were recruited and randomized into two groups: Dragon Boat group (DB, N = 18) or a home-based non-supervised training program (home exercise group; HG, N = 13). All participants underwent body composition, handgrip test, 30-s chair stand test (30CST), 6-min walking test (6MWT), and shoulder mobility measurements at baseline and after 12 weeks of intervention. Participants also filled out the Body Appreciation Scale-2 (BAS-2) and the Short Form Health Survey-12 (SF-12) self-report questionnaires. RESULTS: Dragon Boat activity significantly improved the 30CST (+ 6%, p = .011) and 6MWT performance (+ 30%, p = .011) compared to a home-based non-supervised training program. Moreover, 20% (3/15 women) of women in the DB group obtained a reliable change from pre- to post-intervention in the BAS-2 and in the mental QoL component of the SF-12 (vs 15% and 0% of the HC group). No reliable change emerged for the physical component of the SF-12. CONCLUSION: Dragon Boat activity is efficient to improve lower limb strength in women operated for breast cancer. Furthermore, Dragon Boat activity emerged to improve body appreciation and mental QoL in some of the women assigned to this activity. Importantly, no adverse events were documented during the intervention. TRIAL REGISTRATION: NCT05206526 (10/02/2022).
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Neoplasias da Mama , Sobreviventes de Câncer , Esportes Aquáticos , Feminino , Humanos , Pessoa de Meia-Idade , Idoso , Neoplasias da Mama/psicologia , Qualidade de Vida/psicologia , Navios , Força da MãoRESUMO
The purpose of the study was to determine the associations of self-perception, motor skills, and clinical features of young school-age children with glaucoma (CG). This is a cross-sectional observational study. Children from preschool to second grade, including CG (N = 19), children with amblyopia (CA, N = 28), and controls (N = 32), completed the Manual Dexterity and Aiming and Catching Scales of the Movement Assessment Battery for Children-2nd edition (MABC-2), including Manual Dexterity, Aiming and Catching, and Balance. CG, CA, and their parent completed the Pictorial Scale of Perceived Competence and Social Acceptance for Young Children, respectively, assessing the child's cognitive competence, peer acceptance, physical competence, and maternal acceptance. The Kruskal-Wallis H test and Bonferroni post hoc test compared motor skills among groups. Spearman's correlation analysis evaluated the correlations between motor skills, self-perception, and clinical features. The CG reported lower peer acceptance than CA (P = 0.040), and the parents of CG reported lower cognitive competence than CG reported (P = 0.046). Compared with controls, CG had worse performance of Aiming and Catching, and Balance (P = 0.018 and P = 0.001), and CA had worse performance of Balance (P = 0.009). The motor skills were comparable between CG and CA. For CG, older age correlated with worse competence of Aiming and Catching (r = - 0.620, P = 0.005), better best-corrected visual acuity of better-seeing eye correlated with higher competence of Manual Dexterity and Balance (r = - 0.494, P = 0.032, and r = - 0.516, P = 0.024), and longer duration of glaucoma correlated with worse competence of Manual Dexterity (r = - 0.487, P = 0.034). CONCLUSION: Glaucoma and amblyopia have significant negative impacts on children's daily motor skills. The acuity of a better-seeing eye is an important factor influencing motor movement. TRIAL REGISTRATION: ClinicalTrials.gov identifier, ChiCTR2100050415. WHAT IS KNOWN: ⢠The state of mental health in early childhood influences the development of their future personality and physical development. The prognosis and management of glaucoma may seriously impair the mental health development of the affected children. However, the exploration of psychological aspects and motor movement of childhood glaucoma was limited. WHAT IS NEW: ⢠Children with glaucoma have impaired motor skills and self-perception development, especially in terms of peer socialization.
Assuntos
Ambliopia , Glaucoma , Percepção de Movimento , Criança , Humanos , Pré-Escolar , Ambliopia/psicologia , Estudos Transversais , Destreza Motora , Autoimagem , Glaucoma/diagnósticoRESUMO
PURPOSE: To investigate, map, and synthesize evidence regarding the correlation between changes in binocular vision and fine motor skills among children. METHODS: We conducted a scoping review of existing evidence, following the guidelines and checklist outlined in "Preferred Reporting Items for Systematic Reviews and Meta-Analyses - Scoping Reviews" (PRISMAScR). RESULTS: Sixteen papers were systematically included in our scoping review. A predominant focus was placed on assessing the impact of strabismus on motor skills. Most of the studies used motor test batteries for comprehensive analysis, while the remaining employed methodologies, such as questionnaires or laboratory-based tests. CONCLUSION: Vision stands as a pivotal perceptual modality essential for the optimal development of children. Alterations in visual acuity can significantly affect fine motor skills. Pediatric ophthalmology and orthoptics frequently encounter binocular vision disorders, such as amblyopia and strabismus. Our finding showed that impaired binocular vision affects fine motor skills.
RESUMO
There is some, albeit inconsistent, evidence supporting sex differences in preschoolers' motor competence (MC), with these observations not uniform when analyzed by age, and cultural groups. Thus, this study examined sex differences across ages in 3- to 5-year-old children's MC. A cross-country pooled sample of 6241 children aged 3-5 years (49.6% girls) was assessed for MC using the Test of Gross Motor Development-2nd/3rd edition, and children were categorized into groups of age in months. Multiple linear regression models and predictive margins were calculated to explore how sex and age in months affect scores of MC (i.e., locomotor and ball skills), with adjustments for country and BMI. The Chow's Test was used to test for the presence of a structural break in the data. Significant differences in favor of girls were seen at 57-59 and 66-68 months of age for locomotor skills; boys performed better in ball skills in all age periods, except for 42-44 and 45-47 months of age. The higher marginal effects were observed for the period between 45-47 and 48-50 months for locomotor skills (F = 30.21; and F = 25.90 for girls and boys, respectively), and ball skills (F = 19.01; and F = 42.11 for girls and boys, respectively). A significantly positive break point was seen at 45-47 months, highlighting the age interval where children's MC drastically improved. The identification of this breakpoint provides an evidence-based metric for when we might expect MC to rapidly increase, and an indicator of early delay when change does not occur at that age.