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1.
Biomed Res Int ; 2021: 9956609, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34527746

RESUMO

OBJECTIVE: Schizencephaly is a rare congenital malformation that causes motor impairment. To determine the treatment strategy, each domain of the motor functions should be appropriately evaluated. We correlated a color map of diffusion tensor imaging (DTI) and transcranial magnetic stimulation (TMS) with the hand function test (HFT) to identify the type of hand function that each test (DTI and TMS) reflects. Further, we attempted to demonstrate the motor neuron organization in schizencephaly. METHOD: This retrospective study was conducted on 12 patients with schizencephaly. TMS was conducted in the first dorsal interosseous (FDI), biceps (BB), and deltoid muscles of the upper extremity, and contralateral MEP (cMEP) and ipsilateral MEP (iMEP) were recorded. The HFT included the grip strength, box and block (B&B), and 9-hole peg test. The schizencephalic cleft was confirmed using magnetic resonance imaging, and the corticospinal tract (CST) was identified using the color map of DTI. The symmetry indices for the peduncle and CST at pons level were calculated as the ratios of the cross-sectional area of the less-affected side and that of the more-affected side. RESULT: In the more-affected hemisphere TMS, no iMEP was obtained. In the less-affected hemisphere TMS, the iMEP response was detected in 9 patients and cMEP in all patients, which was similar to the pattern observed in unilateral lesion. Paretic hand grip strength was strongly correlated with the presence of iMEP (p = 0.044). The symmetry index of the color map of DTI was significantly correlated with the B&B (p = 0.008, R 2 = 0.416), whereas the symmetry index of the peduncle was not correlated with all HFTs. CONCLUSION: In patients with schizencephaly, the iMEP response rate is correlated with the hand function related to strength, while the symmetricity of the CST by the color map of DTI is correlated with the hand function associated with dexterity. Additionally, we suggest the possible motor organization pattern of schizencephaly following interhemispheric competition.


Assuntos
Pedúnculo Cerebral/patologia , Mãos/fisiopatologia , Córtex Motor/patologia , Ponte/patologia , Transtornos Psicomotores/patologia , Tratos Piramidais/patologia , Esquizencefalia/patologia , Adolescente , Adulto , Mapeamento Encefálico , Pedúnculo Cerebral/diagnóstico por imagem , Pedúnculo Cerebral/fisiopatologia , Criança , Pré-Escolar , Imagem de Tensor de Difusão/métodos , Feminino , Força da Mão/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Córtex Motor/diagnóstico por imagem , Córtex Motor/fisiopatologia , Músculo Esquelético/inervação , Músculo Esquelético/fisiopatologia , Ponte/diagnóstico por imagem , Ponte/fisiopatologia , Transtornos Psicomotores/diagnóstico por imagem , Transtornos Psicomotores/fisiopatologia , Tratos Piramidais/diagnóstico por imagem , Tratos Piramidais/fisiopatologia , Estudos Retrospectivos , Esquizencefalia/diagnóstico por imagem , Esquizencefalia/fisiopatologia , Estimulação Magnética Transcraniana/métodos
2.
Nat Commun ; 12(1): 5439, 2021 09 14.
Artigo em Inglês | MEDLINE | ID: mdl-34521851

RESUMO

Autism is a neurodevelopmental disorder characterized by impaired social skills, motor and perceptual atypicalities. These difficulties were explained within the Bayesian framework as either reflecting oversensitivity to prediction errors or - just the opposite - slow updating of such errors. To test these opposing theories, we administer paced finger-tapping, a synchronization task that requires use of recent sensory information for fast error-correction. We use computational modelling to disentangle the contributions of error-correction from that of noise in keeping temporal intervals, and in executing motor responses. To assess the specificity of tapping characteristics to autism, we compare performance to both neurotypical individuals and individuals with dyslexia. Only the autism group shows poor sensorimotor synchronization. Trial-by-trial modelling reveals typical noise levels in interval representations and motor responses. However, rate of error correction is reduced in autism, impeding synchronization ability. These results provide evidence for slow updating of internal representations in autism.


Assuntos
Transtorno Autístico/fisiopatologia , Imagem Corporal/psicologia , Dislexia/fisiopatologia , Transtornos Psicomotores/fisiopatologia , Desempenho Psicomotor , Transtorno Autístico/psicologia , Teorema de Bayes , Criança , Dislexia/psicologia , Feminino , Dedos , Humanos , Masculino , Modelos Estatísticos , Periodicidade , Testes Psicológicos
3.
Parkinsonism Relat Disord ; 90: 15-20, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34340003

RESUMO

BACKGROUND: Cervical dystonia (CD) is the most common form of focal dystonia with involuntary movements and postures of the head. The pathogenesis and neural mechanisms underlying CD have not been fully elucidated. METHODS: Twenty-seven newly drug-naïve patients with CD and 21 healthy controls (HCs) were recruited with clinical assessment and resting-state functional magnetic resonance imaging (rs-fMRI) scanning. Severity of CD was measured by Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) and Tsui scores. Whole-brain voxel-wise intrinsic connectivity (IC) and seed-based functional connectivity (FC) analyses were performed for detection of changes in the CD group relative to HCs, controlling for age, gender, and global time series correlation, followed by correlation analyses of IC, seed-based FC and clinically relevant features, respectively. RESULTS: In comparison with HCs, CD patients showed significantly increased IC measurement in the anterior part of the left supramarginal gyrus and extended to the inferior left postcentral gyrus (AL-SMG/IL-PCG). With this cluster as a seed, decreased FC was found in the right precentral and postcentral gyrus. Moreover, the regional IC value in the AL-SMG/IL-PCG was significantly positively correlated with TWSTRS-1 (severity) score, and significantly negatively correlated with the associated seed-based FC strength. CONCLUSIONS: Our results showed signs of both hyper- and hypo-connectivity in bilateral regions of the sensorimotor network related to CD. The imbalance of functional connectivity (both hyper- and hypo-) may hint both overloading and disrupted somatosensory or sensorimotor integration dysfunction within the sensorimotor network underlying the pathophysiology of CD, thus providing a network target for future therapies.


Assuntos
Imageamento por Ressonância Magnética , Rede Nervosa/fisiopatologia , Transtornos Psicomotores/fisiopatologia , Torcicolo/fisiopatologia , Adulto , Estudos de Casos e Controles , Correlação de Dados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Psicomotores/diagnóstico por imagem , Transtornos Psicomotores/etiologia , Córtex Sensório-Motor/diagnóstico por imagem , Córtex Sensório-Motor/fisiopatologia , Índice de Gravidade de Doença , Córtex Somatossensorial/diagnóstico por imagem , Córtex Somatossensorial/fisiopatologia , Torcicolo/complicações , Torcicolo/diagnóstico por imagem
4.
Ann Agric Environ Med ; 28(1): 183-188, 2021 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-33775086

RESUMO

INTRODUCTION: Premature babies are a special group at risk of persistent brain damage caused by diseases, the most serious of which are cerebral palsy(CP), autism spectrum disorders (ASD) and mental retardation, among others. These conditions may occur concurrently, but appear more often as separate disease syndromes in the same group of at-risk children. Long-term observation of psychomotor development by an interdisciplinary medical team closely cooperating with parents is necessary. It is important to detect the risk of developing these diseases as soon as possible in all development spheres. MATERIAL AND METHODS: The research was conducted to demonstrate the prognostic value of 'red flags' of developmental milestones and the ability to detect early signs of risk of developing CP and ASD in extremely premature babies. In this preliminary study, 42 preterm babies, born after less than 32 weeks pregnancy participated. RESULTS: The occurrence of 'red flags'in the spheres: gross motor, fine motor and cognitive at 9 months was strongly associated with their presence at 24 months. The sensitivity and specificity were: gross motor - 0.91 (95% CI: 0.59, 1.00) and 0.94 (95% CI: 0.79, 0.99); fine motor - 0.83 (95% CI 0.36-1.00) and 1.00 (95% CI: 0.90-1.00); cognitive - 1.00 (0.40, 1.00) and 0.97 (0.86, 1.00). Other spheres had lower sensitivity but high specificity. CONCLUSIONS: The conclusion is that the 'red flags'at the 9 months milestones already predict the normal or developmental delay of premature babies, and predict the risk of CP and ASD. Due to the availability and lack of the need for specialized and costly training, it is worth considering their use in everyday life medical practice.


Assuntos
Doenças do Prematuro/diagnóstico , Transtornos Psicomotores/diagnóstico , Desenvolvimento Infantil , Cognição , Feminino , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro/crescimento & desenvolvimento , Recém-Nascido Prematuro/psicologia , Doenças do Prematuro/fisiopatologia , Doenças do Prematuro/psicologia , Masculino , Atividade Motora , Transtornos Psicomotores/fisiopatologia , Transtornos Psicomotores/psicologia
5.
Mol Autism ; 12(1): 2, 2021 01 19.
Artigo em Inglês | MEDLINE | ID: mdl-33468258

RESUMO

BACKGROUND: Contrasting findings were reported in several animal models with a Shank3 mutation used to induce various autism spectrum disorder (ASD) symptoms. Here, we aimed at investigating behavioral, cellular, and molecular consequences of a C-terminal (frameshift in exon 21) deletion in Shank3 protein in mice, a mutation that is also found in clinical conditions and which results in loss of major isoforms of Shank3. A special focus was made on cerebellar related parameters. METHODS: All three genotypes were analyzed [wild type (WT), heterozygote (Shank3+/ΔC) and homozygote (Shank3 ΔC/ΔC)] and males and females were separated into two distinct groups. Motor and social behavior, gait, Purkinje cells (PC) and glutamatergic protein levels were determined. Behavioral and cellular procedures used here were previously validated using two environmental animal models of ASD. ANOVA and post-hoc analysis were used for statistical analysis. RESULTS: Shank3 ΔC/ΔC mice showed significant impairments in social novelty preference, stereotyped behavior and gait. These were accompanied by a decreased number of PC in restricted cerebellar sub-regions and decreased cerebellar expression of mGluR5. Females Shank3 ΔC/ΔC were less affected by the mutation than males. Shank3+/ΔC mice showed impairments only in social novelty preference, grooming, and decreased mGluR5 expression and that were to a much lesser extent than in Shank3 ΔC/ΔC mice. LIMITATIONS: As Shank3 mutation is a haploinsufficiency, it is of interest to emphasize that Shank3+/ΔC mice showed only mild to no deficiencies compared to Shank3 ΔC/ΔC. CONCLUSIONS: Our findings indicate that several behavioral, cellular, and molecular parameters are affected in this animal model. The reported deficits are more pronounced in males than in females. Additionally, male Shank3 ΔC/ΔC mice show more pronounced alterations than Shank3+/ΔC. Together with our previous findings in two environmental animal models of ASD, our studies indicate that gait dysfunction constitutes a robust set of motor ASD symptoms that may be considered for implementation in clinical settings as an early and quantitative diagnosis criteria.


Assuntos
Marcha , Predisposição Genética para Doença , Proteínas dos Microfilamentos , Atividade Motora , Mutação , Proteínas do Tecido Nervoso , Transtornos Psicomotores/genética , Transtornos Psicomotores/fisiopatologia , Animais , Comportamento Animal , Biomarcadores , Modelos Animais de Doenças , Feminino , Estudos de Associação Genética , Imuno-Histoquímica , Masculino , Camundongos , Camundongos Knockout , Fenótipo , Transtornos Psicomotores/diagnóstico , Fatores Sexuais , Comportamento Social
6.
Brain Res ; 1753: 147229, 2021 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-33385374

RESUMO

Hydrocephalus associated with long term spaceflight (HALS) for missions lasting over five months is well described but poorly understood. While structural changes of the brain due to microgravitational forces affecting the circulation of cerebrospinal fluid (CSF) have been described as one potential cause, we propose an alternative hypothesis based on dynamic disequilibrium of macromolecular transport across the blood brain barrier. We propose that factors altering physiology under conditions of spaceflight such as microgravity, hypercapnia, venous hypertension, medications, and dietary substances contribute to increased protein load in the ventricles and/or contribute to impairment of transport out of the ventricles that results in HALS. Individual variation in the genetic expression of efflux transporters (p-glycoprotein) has been shown to correlate with the presence and degree of hydrocephalus in animal studies. We describe the evidence behind this concept and propose how these factors can be studied in order to determine the underlying pathogenesis which is imperative in order to cure or prevent HALS.


Assuntos
Encéfalo/fisiopatologia , Hidrocefalia/patologia , Hidrocefalia/fisiopatologia , Voo Espacial , Animais , Encéfalo/patologia , Ventrículos Cerebrais/patologia , Ventrículos Cerebrais/fisiopatologia , Humanos , Transtornos Psicomotores/complicações , Transtornos Psicomotores/fisiopatologia , Tempo
7.
Gerontology ; 67(1): 17-24, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33254165

RESUMO

INTRODUCTION: Falls among older people are a major health issue and the first cause of accidental death after 75 years of age. Post-fall syndrome (PFS) is commonly known and yet poorly studied. OBJECTIVE: Identify risk factors for PFS and do a follow-up 1 year later. METHODS: We included all patients over 70 years of age hospitalized after suffering a fall in a case-control study, and then followed them in a cohort study. PFS was retained in case of functional mobility decline (transferring, walking) occurring following a fall in the absence of an acute neurological, orthopedic or rheumatic pathology directly responsible for the decline. The data initially collected were: clinical (anamnestic, emergency and departmental/ward evolution, medical history, lifestyle, treatments, clinical examination items); and imaging if the patient had been subjected to brain imaging in the last 3 years prior to inclusion. Regarding the follow-up at 1 year, we collected from the general physician the occurrence and the characteristics of new falls, functional mobility assessment, hospitalization and death. RESULTS: Inclusion took place from March 29, 2016 to June 7, 2016 and follow-up until June 30, 2017. We included 70 patients. A total of 29 patients exhibited a PFS (41.4 %). Risk factors for PFS included age, walking disorder prior to the fall, the use of a walking aid prior to the fall, no unaccompanied outdoor walk in the week before the fall, visual impairment making close reading impossible, stiffness in ankle dorsiflexion, grip strength and the fear of falling. Among patients with PFS, 52.9% could still perform a transfer at 1 year and 64.7% could still walk against 80.7% and 85.2%, respectively, for patients without PFS. CONCLUSION: The study showed the existence of body functions/structure impairments and activity limitations prior to the fall among patients exhibiting a PFS. This suggests the existence of a pre-fall syndrome, i.e., a psychomotor disadaptation syndrome existing prior to the fall. Among the 8 risk factors, fear of falling, vision impairment and muscle strength could be targeted for improvement. The diagnosis of PFS could be a marker of loss of functional mobility at 1 year.


Assuntos
Acidentes por Quedas , Transtornos Neurológicos da Marcha , Força Muscular , Transtornos Psicomotores , Transtornos Relacionados a Trauma e Fatores de Estresse , Transtornos da Visão , Acidentes por Quedas/prevenção & controle , Acidentes por Quedas/estatística & dados numéricos , Idoso , Feminino , Seguimentos , França/epidemiologia , Transtornos Neurológicos da Marcha/diagnóstico , Transtornos Neurológicos da Marcha/epidemiologia , Transtornos Neurológicos da Marcha/fisiopatologia , Humanos , Masculino , Limitação da Mobilidade , Transtornos Psicomotores/diagnóstico , Transtornos Psicomotores/epidemiologia , Transtornos Psicomotores/fisiopatologia , Desempenho Psicomotor/fisiologia , Medição de Risco/métodos , Fatores de Risco , Transtornos Relacionados a Trauma e Fatores de Estresse/epidemiologia , Transtornos Relacionados a Trauma e Fatores de Estresse/fisiopatologia , Transtornos Relacionados a Trauma e Fatores de Estresse/psicologia , Transtornos da Visão/complicações , Transtornos da Visão/prevenção & controle
9.
Am J Med Genet A ; 182(6): 1500-1505, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32220057

RESUMO

Mucolipidosis type IV (MLIV) is an autosomal recessively inherited lysosomal storage disorder characterized by progressive psychomotor delay and retinal degeneration that is associated with biallelic variants in the MCOLN1 gene. The gene, which is expressed in late endosomes and lysosomes of various tissue cells, encodes the transient receptor potential channel mucolipin 1 consisting of six transmembrane domains. Here, we described 14-year follow-up observation of a 4-year-old Japanese male MLIV patient with a novel homozygous in-frame deletion variant p.(F313del), which was identified by whole-exome sequencing analysis. Neurological examination revealed progressive psychomotor delay, and atrophy of the corpus callosum and cerebellum was observed on brain magnetic resonance images. Ophthalmologically, corneal clouding has remained unchanged during the follow-up period, whereas optic nerve pallor and retinal degenerative changes exhibited progressive disease courses. Light-adapted electroretinography was non-recordable. Transmission electron microscopy of granulocytes revealed characteristic concentric multiple lamellar structures and an electron-dense inclusion in lysosomes. The in-frame deletion variant was located within the second transmembrane domain, which is of putative functional importance for channel properties.


Assuntos
Doenças por Armazenamento dos Lisossomos/genética , Lisossomos/genética , Mucolipidoses/genética , Canais de Potencial de Receptor Transitório/genética , Adolescente , Criança , Pré-Escolar , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/fisiopatologia , Homozigoto , Humanos , Doenças por Armazenamento dos Lisossomos/diagnóstico por imagem , Doenças por Armazenamento dos Lisossomos/fisiopatologia , Lisossomos/patologia , Imageamento por Ressonância Magnética , Masculino , Mucolipidoses/diagnóstico por imagem , Mucolipidoses/fisiopatologia , Mutação/genética , Transtornos Psicomotores/complicações , Transtornos Psicomotores/genética , Transtornos Psicomotores/fisiopatologia , Degeneração Retiniana/complicações , Degeneração Retiniana/genética , Degeneração Retiniana/fisiopatologia
10.
Autism Res ; 13(6): 885-896, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32157824

RESUMO

Autism spectrum disorder (ASD) and schizophrenia (SCZ) are neurodevelopmental disorders with partly overlapping clinical phenotypes including sensorimotor impairments. However, direct comparative studies on sensorimotor control across these two disorders are lacking. We set out to compare visuomotor upper limb impairment, quantitatively, in ASD and SCZ. Patients with ASD (N = 24) were compared to previously published data from healthy control participants (N = 24) and patients with SCZ (N = 24). All participants performed a visuomotor grip force-tracking task in single and dual-task conditions. The dual-task (high cognitive load) presented either visual distractors or required mental addition during grip force-tracking. Motor inhibition was measured by duration of force release and from principal component analysis (PCA) of the participant's force-trajectory. Common impairments in patients with ASD and SCZ included increased force-tracking error in single-task condition compared to controls, a further increase in error in dual-task conditions, and prolonged duration of force release. These three sensorimotor impairments were found in both patient groups. In contrast, distinct impairments in patients with ASD included greater error under high cognitive load and delayed onset of force release compared to SCZ. The PCA inhibition component was higher in ASD than SCZ and controls, correlated to duration of force release, and explained group differences in tracking error. In conclusion, sensorimotor impairments related to motor inhibition are common to ASD and SCZ, but more severe in ASD, consistent with enhanced neurodevelopmental load in ASD. Furthermore, impaired motor anticipation may represent a further specific impairment in ASD. Autism Res 2020, 13: 885-896. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism spectrum disorder (ASD) and schizophrenia (SCZ) are neurodevelopmental disorders with partly overlapping and partly distinct clinical symptoms. Sensorimotor impairments rank among these symptoms, but it is less clear whether they are shared or distinct. In this study, we showed using a grip force task that sensorimotor impairments related to motor inhibition are common to ASD and SCZ, but more severe in ASD. Impaired motor anticipation may represent a further specific impairment in ASD.


Assuntos
Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/fisiopatologia , Transtornos Psicomotores/complicações , Transtornos Psicomotores/fisiopatologia , Esquizofrenia/complicações , Esquizofrenia/fisiopatologia , Adulto , Feminino , Humanos , Masculino , Fenótipo
11.
Phys Ther ; 100(2): 346-358, 2020 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-32031656

RESUMO

BACKGROUND: The Observable Movement Quality (OMQ) Scale measures generic movement quality. Each item of the OMQ Scale focuses on a different element; together, the 15 items assess the whole construct of movement quality. OBJECTIVE: The aim of this study was to determine the construct validity of the OMQ Scale using 7 hypotheses defined to conform to the Consensus-Based Standards for the Selection of Health Measurement Instruments. DESIGN: This was an exploratory validation study. METHODS: A pediatric physical therapist assessed motor performance in 101 children using an age-specific motor test and the OMQ Scale. The direction, magnitude, and rationale for 7 hypotheses, which concerned relationships (n = 2), probability of low scores (n = 4), and difference between diagnosis subgroups (n = 1), were defined. RESULTS: The results confirmed 6 of the 7 hypotheses, indicating sufficient construct validity. Significant positive relationships were found between OMQ Scale total scores and the severity of motor disabilities (r = 0.72) and z scores on motor tests (r = 0.60). Probabilities for low scores on OMQ Scale items-exceeding the chi-square critical value-were confirmed for children diagnosed with spasticity, psychomotor retardation, mitochondrial diseases, and ataxia; however, probabilities for low OMQ Scale item scores on strength regulation in children with ataxia were not confirmed. OMQ Scale total scores for children who were not ambulatory because of neurological conditions were significantly different from those for children who were not ambulatory because of fatigue (r = 0.66). LIMITATIONS: The sample of children was based on theoretical assumptions about relevant variations in clinical representations; on the basis of the results, it appears that children with low strength regulation were underrepresented. CONCLUSION: The confirmation of nearly all hypotheses supported the validity of the OMQ Scale for measuring movement quality in clinical practice in addition to standardized age-adequate motor performance tests.


Assuntos
Ataxia/fisiopatologia , Doenças Mitocondriais/fisiopatologia , Atividade Motora/fisiologia , Espasticidade Muscular/fisiopatologia , Transtornos Psicomotores/fisiopatologia , Fatores Etários , Distribuição de Qui-Quadrado , Criança , Feminino , Humanos , Masculino , Probabilidade , Reprodutibilidade dos Testes , Índice de Gravidade de Doença
12.
Schizophr Bull ; 46(2): 272-285, 2020 02 26.
Artigo em Inglês | MEDLINE | ID: mdl-31361896

RESUMO

In 1874, Karl Kahlbaum described catatonia as an independent syndrome characterized by motor, affective, and behavioral anomalies. In the following years, various catatonia concepts were established with all sharing the prime focus on motor and behavioral symptoms while largely neglecting affective changes. In 21st century, catatonia is a well-characterized clinical syndrome. Yet, its neurobiological origin is still not clear because methodological shortcomings of hitherto studies had hampered this challenging effort. To fully capture the clinical picture of catatonia as emphasized by Karl Kahlbaum, 2 decades ago a new catatonia scale was developed (Northoff Catatonia Rating Scale [NCRS]). Since then, studies have used NCRS to allow for a more mechanistic insight of catatonia. Here, we undertook a systematic review searching for neuroimaging studies using motor/behavioral catatonia rating scales/criteria and NCRS published up to March 31, 2019. We included 19 neuroimaging studies. Studies using motor/behavioral catatonia rating scales/criteria depict cortical and subcortical motor regions mediated by dopamine as neuronal and biochemical substrates of catatonia. In contrast, studies relying on NCRS found rather aberrant higher-order frontoparietal networks which, biochemically, are insufficiently modulated by gamma-aminobutyric acid (GABA)-ergic and glutamatergic transmission. This is further supported by the high therapeutic efficacy of GABAergic agents in acute catatonia. In sum, this systematic review points out the difference between motor/behavioral and NCRS-based classification of catatonia on both neuronal and biochemical grounds. That highlights the importance of Kahlbaum's original truly psychomotor concept of catatonia for guiding both research and clinical diagnosis and therapy.


Assuntos
Encéfalo , Catatonia , Transtornos Psicomotores , Encéfalo/diagnóstico por imagem , Encéfalo/metabolismo , Encéfalo/fisiopatologia , Catatonia/classificação , Catatonia/diagnóstico por imagem , Catatonia/metabolismo , Catatonia/fisiopatologia , Humanos , Transtornos Psicomotores/classificação , Transtornos Psicomotores/diagnóstico por imagem , Transtornos Psicomotores/metabolismo , Transtornos Psicomotores/fisiopatologia
13.
Eur Arch Psychiatry Clin Neurosci ; 270(3): 393-397, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31432263

RESUMO

Finger tapping is sensitive to motor slowing and emerging symptoms in individuals at clinical high risk for psychosis (CHR). A sensitive, computerized finger tapping task would be beneficial in early psychosis screening batteries. The study included 41 CHR and 32 healthy volunteers, who completed a computerized finger tapping task and clinical interviews. This computerized finger tapping task was sensitive to slowing in the CHR group compared to healthy volunteers, and as expected negative but not positive symptoms related to motor slowing. Computerized finger tapping tasks may be an easily dispersible tool for early symptom detection battery relevant to emerging negative symptoms.


Assuntos
Atividade Motora/fisiologia , Testes Neuropsicológicos , Transtornos Psicomotores/fisiopatologia , Desempenho Psicomotor/fisiologia , Transtornos Psicóticos/fisiopatologia , Adolescente , Adulto , Diagnóstico por Computador , Suscetibilidade a Doenças , Feminino , Dedos/fisiopatologia , Humanos , Masculino , Transtornos Psicomotores/etiologia , Transtornos Psicóticos/complicações , Adulto Jovem
14.
Horm Behav ; 119: 104649, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31821792

RESUMO

The majority of HIV+ patients present with neuroendocrine dysfunction and ~50% experience co-morbid neurological symptoms including motor, affective, and cognitive dysfunction, collectively termed neuroHIV. In preclinical models, the neurotoxic HIV-1 regulatory protein, trans-activator of transcription (Tat), promotes neuroHIV pathology that can be exacerbated by opioids. We and others find gonadal steroids, estradiol (E2) or progesterone (P4), to rescue Tat-mediated pathology. However, the combined effects of Tat and opioids on neuroendocrine function and the subsequent ameliorative capacity of gonadal steroids are unknown. We found that conditional HIV-1 Tat expression in naturally-cycling transgenic mice dose-dependently potentiated oxycodone-mediated psychomotor behavior. Tat increased depression-like behavior in a tail-suspension test among proestrous mice, but decreased it among diestrous mice (who already demonstrated greater depression-like behavior); oxycodone reversed these effects. Combined Tat and oxycodone produced apparent behavioral disinhibition of anxiety-like responding which was greater on diestrus than on proestrus. These mice made more central entries in an open field, but spent less time there and demonstrated greater circulating corticosterone. Tat increased the E2:P4 ratio of circulating steroids on diestrus and acute oxycodone attenuated this effect, but repeated oxycodone exacerbated it. Corticotropin-releasing factor was increased by Tat expression, acute oxycodone exposure, and was greater on diestrus compared to proestrus. In human neuroblastoma cells, Tat exerted neurotoxicity that was ameliorated by E2 (1 or 10 nM) or P4 (100, but not 10 nM) independent of oxycodone. Oxycodone decreased gene expression of estrogen and κ-opioid receptors. Thus, neuroendocrine function may be an important target for HIV-1 Tat/opioid interactions.


Assuntos
Gônadas/efeitos dos fármacos , Sistema Hipotálamo-Hipofisário/efeitos dos fármacos , Síndromes Neurotóxicas , Oxicodona/efeitos adversos , Sistema Hipófise-Suprarrenal/efeitos dos fármacos , Produtos do Gene tat do Vírus da Imunodeficiência Humana/efeitos adversos , Animais , Ansiedade/fisiopatologia , Ansiedade/psicologia , Disfunção Cognitiva/induzido quimicamente , Disfunção Cognitiva/patologia , Disfunção Cognitiva/fisiopatologia , Combinação de Medicamentos , Feminino , Hormônios Esteroides Gonadais/fisiologia , Gônadas/fisiologia , Infecções por HIV/complicações , Infecções por HIV/fisiopatologia , Infecções por HIV/psicologia , HIV-1/fisiologia , Humanos , Sistema Hipotálamo-Hipofisário/fisiologia , Camundongos , Camundongos Transgênicos , Transtornos do Humor/induzido quimicamente , Transtornos do Humor/patologia , Transtornos do Humor/fisiopatologia , Síndromes Neurotóxicas/genética , Síndromes Neurotóxicas/fisiopatologia , Síndromes Neurotóxicas/psicologia , Oxicodona/administração & dosagem , Sistema Hipófise-Suprarrenal/fisiologia , Transtornos Psicomotores/induzido quimicamente , Transtornos Psicomotores/patologia , Transtornos Psicomotores/fisiopatologia , Células Tumorais Cultivadas , Produtos do Gene tat do Vírus da Imunodeficiência Humana/administração & dosagem , Produtos do Gene tat do Vírus da Imunodeficiência Humana/genética
15.
Neuropediatrics ; 51(2): 160-163, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31766059

RESUMO

CASE: We are reporting the third unrelated case of cerebral aspartate-glutamate carrier isoform 1 (AGC1) deficiency. Patient is a 21-month-old Yemeni male who presented with refractory seizure disorder and developmental arrest. Neuroimaging showed cerebral volume loss and diminished N-acetylaspartate (NAA) peak. Whole exome sequencing revealed a homozygous novel missense variant in the SLC25A12 gene. Patient's seizure frequency abated drastically following initiation of ketogenic diet. DISCUSSION AND CONCLUSION: Cerebral AGC1 deficiency results in dysfunction of mitochondrial malate aspartate shuttle, thereby prohibiting myelin synthesis. There are significant phenotypic commonalities between our patient and previously reported cases including intractable epilepsy, psychomotor delay, cerebral atrophy, and diminished NAA peak. Our report also provides evidence regarding beneficial effect of ketogenic diet in this rare neurometabolic epilepsy.


Assuntos
Sistemas de Transporte de Aminoácidos Acídicos/deficiência , Antiporters/deficiência , Dieta Cetogênica , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/diagnóstico , Doenças Mitocondriais/diagnóstico , Proteínas de Transporte da Membrana Mitocondrial/genética , Transtornos Psicomotores/diagnóstico , Adulto , Sistemas de Transporte de Aminoácidos Acídicos/genética , Antiporters/genética , Epilepsia Resistente a Medicamentos/dietoterapia , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/dietoterapia , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/genética , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/fisiopatologia , Humanos , Masculino , Doenças Mitocondriais/dietoterapia , Doenças Mitocondriais/genética , Doenças Mitocondriais/fisiopatologia , Mutação de Sentido Incorreto , Isoformas de Proteínas , Transtornos Psicomotores/dietoterapia , Transtornos Psicomotores/genética , Transtornos Psicomotores/fisiopatologia , Sequenciamento do Exoma , Adulto Jovem
16.
Sci Rep ; 9(1): 16503, 2019 11 11.
Artigo em Inglês | MEDLINE | ID: mdl-31712725

RESUMO

Integrating multiple assessment parameters of motor behavior is critical for understanding neural activity dynamics during motor control in both intact and dysfunctional nervous systems. Here, we described a novel approach (termed Multifactorial Behavioral Assessment (MfBA)) to integrate, in real-time, electrophysiological and biomechanical properties of rodent spinal sensorimotor network activity with behavioral aspects of motor task performance. Specifically, the MfBA simultaneously records limb kinematics, multi-directional forces and electrophysiological metrics, such as high-fidelity chronic intramuscular electromyography synchronized in time to spinal stimulation in order to characterize spinal cord functional motor evoked potentials (fMEPs). Additionally, we designed the MfBA to incorporate a body weight support system to allow bipedal and quadrupedal stepping on a treadmill and in an open field environment to assess function in rodent models of neurologic disorders that impact motor activity. This novel approach was validated using, a neurologically intact cohort, a cohort with unilateral Parkinsonian motor deficits due to midbrain lesioning, and a cohort with complete hind limb paralysis due to T8 spinal cord transection. In the SCI cohort, lumbosacral epidural electrical stimulation (EES) was applied, with and without administration of the serotonergic agonist Quipazine, to enable hind limb motor functions following paralysis. The results presented herein demonstrate the MfBA is capable of integrating multiple metrics of motor activity in order to characterize relationships between EES inputs that modulate mono- and polysynaptic outputs from spinal circuitry which in turn, can be used to elucidate underlying electrophysiologic mechanisms of motor behavior. These results also demonstrate that proposed MfBA is an effective tool to integrate biomechanical and electrophysiology metrics, synchronized to therapeutic inputs such as EES or pharmacology, during body weight supported treadmill or open field motor activities, to target a high range of variations in motor behavior as a result of neurological deficit at the different levels of CNS.


Assuntos
Atividade Motora , Transtornos Psicomotores/etiologia , Transtornos Psicomotores/fisiopatologia , Animais , Gerenciamento Clínico , Modelos Animais de Doenças , Estimulação Elétrica , Terapia por Estimulação Elétrica , Feminino , Humanos , Locomoção/efeitos dos fármacos , Atividade Motora/efeitos dos fármacos , Condicionamento Físico Animal , Transtornos Psicomotores/terapia , Ratos , Medula Espinal/efeitos dos fármacos , Medula Espinal/fisiopatologia
17.
Acta Psychiatr Scand ; 140(6): 532-540, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31618446

RESUMO

OBJECTIVE: In modern psychiatry, depression is diagnosed with the diagnostic criteria; however, the trajectory of each of the criterion symptoms is unknown. This study aims to examine this. METHODS: We made repeated assessments of the nine diagnostic criterion symptoms with the Patient Health Questionnaire-9 (PHQ-9) among 2011 participants of a 25-week pragmatic randomised controlled trial of sertraline and/or mirtazapine for hitherto untreated major depressive episodes. The changes from baseline were estimated with the mixed-effects model with repeated measures. The time to disappearance of each symptom was modeled using the Kaplan-Meier survival analysis. RESULTS: The total score on PHQ-9 was 18.5 (SD = 3.9, n = 2011) at baseline, which decreased to 15.3 (5.2, n = 2011) at week 1, to 11.5 (5.9, n = 1953) at week 3, to 7.8 (6.0, n = 1927) at week 9, and to 6.0 (5.9, n = 1910) at week 25. Suicidal ideas, psychomotor symptoms decreased rapidly, while anergia and sleep disturbance also decreased but only slowly. The survival analyses confirmed the primary analyses. CONCLUSIONS: Upon initiation of antidepressant treatment, patients with newly treated major depressive episodes can expect their suicidal ideas and psychomotor symptoms to disappear first but sleep disturbances and anergia to linger on.


Assuntos
Antidepressivos/farmacologia , Transtorno Depressivo Maior , Transtornos Psicomotores , Transtornos do Sono-Vigília , Ideação Suicida , Adulto , Transtorno Depressivo Maior/complicações , Transtorno Depressivo Maior/tratamento farmacológico , Transtorno Depressivo Maior/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Psicomotores/tratamento farmacológico , Transtornos Psicomotores/etiologia , Transtornos Psicomotores/fisiopatologia , Método Simples-Cego , Transtornos do Sono-Vigília/tratamento farmacológico , Transtornos do Sono-Vigília/etiologia , Transtornos do Sono-Vigília/fisiopatologia , Fatores de Tempo , Resultado do Tratamento
18.
J Psychiatr Res ; 117: 122-128, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31382133

RESUMO

Psychomotor symptoms are core features of melancholic depression. This study investigates whether psychomotor disturbance predicts the outcome of electroconvulsive therapy (ECT) and how the treatment modulates psychomotor disturbance. In 73 adults suffering from major depressive disorder psychomotor functioning was evaluated before, during and after ECT using the observer-rated CORE measure and objective measures including accelerometry and a drawing task. Regression models were fitted to assess the predictive value of melancholic depression (CORE ≥ 8) and the psychomotor variables on ECT outcome, while effects on psychomotor functioning were evaluated through linear mixed models. Patients with CORE-defined melancholic depression (n = 41) had a 4.9 times greater chance of reaching response than those (n = 24) with non-melancholic depression (Chi-Square = 7.5, P = 0.006). At baseline, both higher total CORE scores (AUC = 0.76; P = 0.001) and needing more cognitive (AUC = 0.78; P = 0.001) and motor time (AUC = 0.76; P = 0.003) on the drawing task corresponded to superior ECT outcomes, as did lower daytime activity levels (AUC = 0.76) although not significantly so after Bonferroni correction for multiple testing. A greater CORE-score reduction in the first week of ECT was associated with higher ECT effectiveness. ECT reduced CORE-assessed psychomotor symptoms and improved activity levels only in those patients showing the severer baseline retardation. Although the sample was relatively small, psychomotor symptoms were clearly associated with beneficial outcome of ECT in patients with major depression, indicating that monitoring psychomotor deficits can help personalise treatment.


Assuntos
Transtorno Depressivo Maior/fisiopatologia , Transtorno Depressivo Maior/terapia , Eletroconvulsoterapia , Avaliação de Resultados em Cuidados de Saúde , Transtornos Psicomotores/fisiopatologia , Transtornos Psicomotores/terapia , Adulto , Idoso , Transtorno Depressivo Maior/complicações , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Prognóstico , Transtornos Psicomotores/etiologia
19.
Int J Mol Sci ; 20(15)2019 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-31370244

RESUMO

Aneurysmal subarachnoid hemorrhage (aSAH), characterized by the extravasation of blood into the subarachnoid space caused by an intracranial aneurysm rupture, may lead to neurocognitive impairments and permanent disability and usually carries poor outcome. Dental or gingiva-derived stem cells have been shown to contribute to immune modulation and neuroregeneration, but the underlying mechanisms are unclear. In the present study, we sought to investigate whether dental pulp stem cells (DPSCs) secrete certain factor(s) that can ameliorate the neural damage and other manifestations in a rat aSAH model. Twenty-four hours after the induction of aSAH, microthrombosis, cortical vasoconstriction, and the decrease in microcirculation and tissue oxygen pressure were detected. Intrathecal administration of DPSC-derived conditioned media (DPSC-CM) ameliorated aSAH-induced vasoconstriction, neuroinflammation, and improved the oxygenation in the injured brain. Rotarod test revealed that the aSAH-induced cognitive and motor impairments were significantly improved by this DPSC-CM administration. Cytokine array indicated the major constituent of DPSC-CM was predominantly insulin growth factor-1 (IGF-1). Immunohistochemistry staining of injured brain tissue revealed the robust increase in Iba1-positive cells that were also ameliorated by DPSC-CM administration. Antibody-mediated neutralization of IGF-1 moderately deteriorated the rescuing effect of DPSC-CM on microcirculation, Iba1-positive cells in the injured brain area, and the cognitive/motor impairments. Taken together, the DPSC-derived secretory factors showed prominent therapeutic potential for aSAH. This therapeutic efficacy may include improvement of microcirculation, alleviation of neuroinflammation, and microglial activation; partially through IGF-1-dependent mechanisms.


Assuntos
Isquemia Encefálica/tratamento farmacológico , Meios de Cultivo Condicionados/farmacologia , Transtornos Neurocognitivos/tratamento farmacológico , Fármacos Neuroprotetores/farmacologia , Transtornos Psicomotores/tratamento farmacológico , Hemorragia Subaracnóidea/tratamento farmacológico , Trombose/tratamento farmacológico , Animais , Isquemia Encefálica/genética , Isquemia Encefálica/metabolismo , Isquemia Encefálica/fisiopatologia , Proteínas de Ligação ao Cálcio/genética , Proteínas de Ligação ao Cálcio/metabolismo , Meios de Cultivo Condicionados/química , Polpa Dentária/citologia , Polpa Dentária/metabolismo , Modelos Animais de Doenças , Expressão Gênica , Injeções Espinhais , Fator de Crescimento Insulin-Like I/genética , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Microcirculação/efeitos dos fármacos , Proteínas dos Microfilamentos/genética , Proteínas dos Microfilamentos/metabolismo , Transtornos Neurocognitivos/genética , Transtornos Neurocognitivos/metabolismo , Transtornos Neurocognitivos/fisiopatologia , Fármacos Neuroprotetores/química , Consumo de Oxigênio/efeitos dos fármacos , Transtornos Psicomotores/genética , Transtornos Psicomotores/metabolismo , Transtornos Psicomotores/fisiopatologia , Ratos , Ratos Wistar , Teste de Desempenho do Rota-Rod , Células-Tronco/química , Células-Tronco/citologia , Células-Tronco/metabolismo , Hemorragia Subaracnóidea/genética , Hemorragia Subaracnóidea/metabolismo , Hemorragia Subaracnóidea/fisiopatologia , Trombose/genética , Trombose/metabolismo , Trombose/fisiopatologia , Vasoconstrição/efeitos dos fármacos
20.
Int J Rehabil Res ; 42(4): 330-336, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31425348

RESUMO

This study was conducted to investigate the effects of motor imagery (MI) and mirror therapy (MT) on upper extremity function according to the level of cognition in stroke patients. Twenty-four participants who were diagnosed with stroke were divided into a mild cognitive group (n = 12) and a severe cognitive group (n = 12). Then, the two groups were again divided into MI group (n = 6) and MT group (n = 6). The participants were evaluated for function of upper extremity using the Box and Block Test (BBT), the Jebsen-Taylor Hand Function Test (JTHFT), and Manual Function Test (MFT). There were significant differences between the two groups of cognitive function of mild level in the post-test of JTHFT (p < 0.05). In the MI group, significant differences were found in the pre- and post-test scores for all variance (p < 0.05). In the MT group, significant differences were found in the pre- and post-test scores for JTHFT and MFT (p < 0.05). There were significant differences between the two groups of cognitive function of severe level in the post-test of all variances (p < 0.05). Furthermore, in the MT group, significant differences were found in the pre- and post-test scores for all variances (P < 0.05). The results of this study suggest that applying MI to the mild cognitive group is effective and that applying MT to the severe cognitive group is effective.


Assuntos
Terapia Cognitivo-Comportamental/métodos , Imagens, Psicoterapia/métodos , Transtornos Psicomotores/reabilitação , Reabilitação do Acidente Vascular Cerebral/métodos , Inquéritos e Questionários , Atividades Cotidianas/classificação , Adulto , Idoso , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Psicomotores/fisiopatologia , Transtornos Psicomotores/psicologia , Recuperação de Função Fisiológica , Extremidade Superior/fisiopatologia
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