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2.
PLoS Biol ; 20(2): e3001541, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35167585

RESUMO

Organizing sensory information into coherent perceptual objects is fundamental to everyday perception and communication. In the visual domain, indirect evidence from cortical responses suggests that children with autism spectrum disorder (ASD) have anomalous figure-ground segregation. While auditory processing abnormalities are common in ASD, especially in environments with multiple sound sources, to date, the question of scene segregation in ASD has not been directly investigated in audition. Using magnetoencephalography, we measured cortical responses to unattended (passively experienced) auditory stimuli while parametrically manipulating the degree of temporal coherence that facilitates auditory figure-ground segregation. Results from 21 children with ASD (aged 7-17 years) and 26 age- and IQ-matched typically developing children provide evidence that children with ASD show anomalous growth of cortical neural responses with increasing temporal coherence of the auditory figure. The documented neurophysiological abnormalities did not depend on age, and were reflected both in the response evoked by changes in temporal coherence of the auditory scene and in the associated induced gamma rhythms. Furthermore, the individual neural measures were predictive of diagnosis (83% accuracy) and also correlated with behavioral measures of ASD severity and auditory processing abnormalities. These findings offer new insight into the neural mechanisms underlying auditory perceptual deficits and sensory overload in ASD, and suggest that temporal-coherence-based auditory scene analysis and suprathreshold processing of coherent auditory objects may be atypical in ASD.


Assuntos
Percepção Auditiva/fisiologia , Transtorno do Espectro Autista/fisiopatologia , Sincronização Cortical/fisiologia , Potenciais Evocados Auditivos/fisiologia , Estimulação Acústica/métodos , Adolescente , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/psicologia , Criança , Feminino , Humanos , Magnetoencefalografia/métodos , Masculino , Tempo de Reação/fisiologia
3.
Sci Rep ; 12(1): 3125, 2022 02 24.
Artigo em Inglês | MEDLINE | ID: mdl-35210528

RESUMO

Reported empathy deficits in autism spectrum disorder (ASD) could be attributable to other ASD-related features. We evaluated 28 ASD adults with no intellectual disability and 24 age-matched non-ASD control subjects using the Autism-Spectrum Quotient (AQ), Questionnaire of Cognitive and Affective Empathy (QCAE), Interpersonal Reactivity Index (IRI), and NEO Personality Inventory-Revised (NEO). Compared to the controls, ASD participants showed lower scores for perspective taking, online simulation, cognitive empathy, and peripheral responsivity on the QCAE, and lower scores for perspective taking and empathic concern on the IRI. Within the ASD group, the AQ scores showed significant relationships with perspective taking, online simulation and cognitive empathy on the QCAE, and perspective taking on the IRI. The ASD group also showed higher scores for neuroticism and lower scores for extraversion on the NEO compared to the controls. However, there were no relationships between AQ scores and NEO factors within the ASD group. Multiple regression analysis with stepwise linear regression demonstrated that perspective taking score on the QCAE and extraversion score on the NEO were good predictor variables to autistic traits on the AQ. These findings help us to understand empathy and personality traits in ASD adults with no intellectual disability.


Assuntos
Transtorno do Espectro Autista/psicologia , Cognição/fisiologia , Personalidade/fisiologia , Adulto , Sintomas Afetivos/fisiopatologia , Transtorno do Espectro Autista/fisiopatologia , Transtorno Autístico/fisiopatologia , Transtorno Autístico/psicologia , Empatia/fisiologia , Feminino , Humanos , Masculino , Inventário de Personalidade , Inquéritos e Questionários
4.
Proc Natl Acad Sci U S A ; 119(5)2022 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-35101921

RESUMO

Observers with autism spectrum disorders (ASDs) find it difficult to read intentions from movements. However, the computational bases of these difficulties are unknown. Do these difficulties reflect an intention readout deficit, or are they more likely rooted in kinematic (dis-)similarities between typical and ASD kinematics? We combined motion tracking, psychophysics, and computational analyses to uncover single-trial intention readout computations in typically developing (TD) children (n = 35) and children with ASD (n = 35) who observed actions performed by TD children and children with ASD. Average intention discrimination performance was above chance for TD observers but not for ASD observers. However, single-trial analysis showed that both TD and ASD observers read single-trial variations in movement kinematics. TD readers were better able to identify intention-informative kinematic features during observation of TD actions; conversely, ASD readers were better able to identify intention-informative features during observation of ASD actions. Crucially, while TD observers were generally able to extract the intention information encoded in movement kinematics, those with autism were unable to do so. These results extend existing conceptions of mind reading in ASD by suggesting that intention reading difficulties reflect both an interaction failure, rooted in kinematic dissimilarity between TD and ASD kinematics (at the level of feature identification), and an individual readout deficit (at the level of information extraction), accompanied by an overall reduced sensitivity of intention readout to single-trial variations in movement kinematics.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Fenômenos Biomecânicos/fisiologia , Reconhecimento Fisiológico de Modelo/fisiologia , Adolescente , Transtorno Autístico , Criança , Desenvolvimento Infantil , Cognição , Compreensão/fisiologia , Emoções/fisiologia , Humanos , Intenção , Movimento/fisiologia
6.
PLoS One ; 17(1): e0262004, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35041646

RESUMO

Autism Spectrum Disorder (ASD) is a heterogeneous condition that affects face perception. Evidence shows that there are differences in face perception associated with the processing of low spatial frequency (LSF) and high spatial frequency (HSF) of visual stimuli between non-symptomatic relatives of individuals with autism (broader autism phenotype, BAP) and typically developing individuals. However, the neural mechanisms involved in these differences are not fully understood. Here we tested whether face-sensitive event related potentials could serve as neuronal markers of differential spatial frequency processing, and whether these potentials could differentiate non-symptomatic parents of children with autism (pASD) from parents of typically developing children (pTD). To this end, we performed electroencephalographic recordings of both groups of parents while they had to recognize emotions of face pictures composed of the same or different emotions (happiness or anger) presented in different spatial frequencies. We found no significant differences in the accuracy between groups but lower amplitude modulation in the Late Positive Potential activity in pASD. Source analysis showed a difference in the right posterior part of the superior temporal region that correlated with ASD symptomatology of the child. These results reveal differences in brain processing of recognition of facial emotion in BAP that could be a precursor of ASD.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Córtex Cerebral/fisiopatologia , Eletroencefalografia , Emoções , Potenciais Evocados , Expressão Facial , Reconhecimento Facial , Adulto , Feminino , Humanos , Masculino
7.
Sci Rep ; 12(1): 1431, 2022 01 26.
Artigo em Inglês | MEDLINE | ID: mdl-35082310

RESUMO

Autism Spectrum Disorder is a neurodevelopmental disorder characterized by deficits in social communication and interaction as well as the presence of repetitive, restricted patterns of behavior, interests, or activities. Many autistic students experience difficulty with daily functioning at school and home. Given these difficulties, regular school attendance is a primary source for autistic students to receive an appropriate range of needed educational and therapeutic interventions. Moreover, school absenteeism (SA) is associated with negative consequences such as school drop-out. Therefore, early SA prediction would help school districts to intervene properly to ameliorate this issue. Due to its heterogeneity, autistic students show within-group differences concerning their SA. A comprehensive statistical analysis performed by the authors shows that the individual and demographic characteristics of the targeted population are not predictive factors of SA. So, we used the students' recent previous attendance to predict their future attendance. We introduce a deep learning-based framework for predicting short-and long-term SA of autistic students using the Long Short-Term Memory (LSTM) and Multilayer Perceptron (MLP) algorithms. The adopted algorithms outperform other machine learning algorithms. In detail, LSTM increased the accuracy and recall of short-term SA prediction by 20% and 13%, while the same scores of long-term SA prediction increased by 5% using MLP.


Assuntos
Absenteísmo , Transtorno do Espectro Autista/psicologia , Aprendizado Profundo , Transtorno do Espectro Autista/fisiopatologia , Criança , Comportamento Cooperativo , Feminino , Humanos , Masculino , Valor Preditivo dos Testes , Evasão Escolar/psicologia
8.
Cell Rep ; 38(2): 110231, 2022 01 11.
Artigo em Inglês | MEDLINE | ID: mdl-35021077

RESUMO

Gait and posture are often perturbed in many neurological, neuromuscular, and neuropsychiatric conditions. Rodents provide a tractable model for elucidating disease mechanisms and interventions. Here, we develop a neural-network-based assay that adopts the commonly used open field apparatus for mouse gait and posture analysis. We quantitate both with high precision across 62 strains of mice. We characterize four mutants with known gait deficits and demonstrate that multiple autism spectrum disorder (ASD) models show gait and posture deficits, implying this is a general feature of ASD. Mouse gait and posture measures are highly heritable and fall into three distinct classes. We conduct a genome-wide association study to define the genetic architecture of stride-level mouse movement in the open field. We provide a method for gait and posture extraction from the open field and one of the largest laboratory mouse gait and posture data resources for the research community.


Assuntos
Marcha/genética , Marcha/fisiologia , Equilíbrio Postural/fisiologia , Animais , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/fisiopatologia , Aprendizado Profundo , Comportamento Exploratório , Estudo de Associação Genômica Ampla/métodos , Camundongos , Movimento/fisiologia , Rede Nervosa/fisiologia , Teste de Campo Aberto/fisiologia , Equilíbrio Postural/genética
9.
Schizophr Bull ; 48(1): 273-282, 2022 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-34313767

RESUMO

Psychotic and autistic symptoms are related to social functioning in individuals with psychotic disorders (PD). The present study used a network approach to (1) evaluate the interactions between autistic symptoms, psychotic symptoms, and social functioning, and (2) investigate whether relations are similar in individuals with and without PD. We estimated an undirected network model in a sample of 504 PD, 572 familial risk for psychosis (FR), and 337 typical comparisons (TC), with a mean age of 34.9 years. Symptoms were assessed with the Autism Spectrum Quotient (AQ; 5 nodes) and the Community Assessment of Psychic Experiences (CAPE; 9 nodes). Social functioning was measured with the Social Functioning Scale (SFS; 7 nodes). We identified statistically significant differences between the FR and PD samples in global strength (P < .001) and network structure (P < .001). Our results show autistic symptoms (social interaction nodes) are negatively and more closely related to social functioning (withdrawal, interpersonal behavior) than psychotic symptoms. More and stronger connections between nodes were observed for the PD network than for FR and TC networks, while the latter 2 were similar in density (P = .11) and network structure (P = .19). The most central items in strength for PD were bizarre experiences, social skills, and paranoia. In conclusion, specific autistic symptoms are negatively associated with social functioning across the psychosis spectrum, but in the PD network symptoms may reinforce each other more easily. These findings emphasize the need for increased clinical awareness of comorbid autistic symptoms in psychotic individuals.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Funcionamento Psicossocial , Transtornos Psicóticos/fisiopatologia , Esquizofrenia/fisiopatologia , Interação Social , Habilidades Sociais , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Rede Social , Adulto Jovem
10.
Brain Dev ; 44(3): 229-233, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34876316

RESUMO

BACKGROUND: Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome caused by a de novo deletion including the 11p13 region. Although autism spectrum disorder (ASD) is frequently observed in patients with WAGR syndrome, few reports have comprehensively described its characteristics. We herein present the detailed neuropsychological and neurophysiological findings of a patient with WAGR syndrome complicated with severe psychomotor developmental delay and ASD. CASE PRESENTATION: The patient is presently a 6-year-old boy. Microarray analysis revealed a 7.1 Mb loss at 11p14.3-p13 and a 9.3 Mb loss at 11p13-p12, which encompassed the PAX6, WT1, and PRRG4 genes. His behavioral features were characteristic even among the ASD population: severe hypoesthesia to touch, pain, and temperature in addition to remarkable sensory seeking posing a high risk of serious accident. Sensory Profile analysis objectively identified a strong preference for sensory stimulation. Furthermore, his somatosensory evoked potential (SSEP) showed a mild delay in central conduction time, suggesting partial brain stem dysfunction-induced hypoalgesia. DISCUSSION: This first attempt to characterize sensory dysfunction using Sensory Profile and SSEP in WAGR syndrome may contribute to understanding its neuropsychological features and improve the quality of rehabilitation and socioeducational support in affected children.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Deficiência Intelectual/diagnóstico , Síndrome WAGR/diagnóstico , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/fisiopatologia , Criança , Eletroencefalografia , Potenciais Somatossensoriais Evocados/fisiologia , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Masculino , Síndrome WAGR/genética , Síndrome WAGR/fisiopatologia
11.
Pediatr Neurol ; 126: 57-64, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34740134

RESUMO

BACKGROUND: Sleep problems are a prevalent comorbidity in autism spectrum disorder (ASD) with a multifactorial basis in which circadian misalignment has been described. METHODS: A cross-sectional study was conducted including 52 children and adolescents with ASD (9.85 ± 3.07) and 27 children and adolescent controls with normal intellectual functioning (8.81 ± 2.14). They were matched for age, sex, and body mass index, and all were drug-naïve. An ambulatory circadian monitoring device was used to record temperature and motor, body position, sleep, and light intensity. RESULTS: Individuals with ASD presented longer sleep-onset latency, lower sleep efficiency, and decreased total sleep time and tended to be more sedentary and have less exposure to light. They also showed lower amplitude, low interdaily stability, and a different pattern of wrist temperature across the day, with a midpoint of sleep that did not concur with sleep midpoint indicated by the rest of circadian parameters. CONCLUSIONS: The sleep problems observed in this sample resemble those reported previously, with the exception of nocturnal awakenings which did not show differences. The ambulatory circadian monitoring device enabled measurement of circadian parameters such as temperature which, until now, were scarcely described in children with ASD and could be used to better understand sleep and circadian system in ASD.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Ritmo Circadiano/fisiologia , Transtornos do Sono-Vigília/fisiopatologia , Actigrafia , Adolescente , Transtorno do Espectro Autista/complicações , Criança , Feminino , Humanos , Masculino , Monitorização Ambulatorial , Transtornos do Sono-Vigília/diagnóstico , Transtornos do Sono-Vigília/etiologia
12.
Pediatr Neurol ; 126: 65-73, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34740135

RESUMO

BACKGROUND: Semaphorins and plexins are ligands and cell surface receptors that regulate multiple neurodevelopmental processes such as axonal growth and guidance. PLXNA3 is a plexin gene located on the X chromosome that encodes the most widely expressed plexin receptor in fetal brain, plexin-A3. Plexin-A3 knockout mice demonstrate its role in semaphorin signaling in vivo. The clinical manifestations of semaphorin/plexin neurodevelopmental disorders have been less widely explored. This study describes the neurological and neurodevelopmental phenotypes of boys with maternally inherited hemizygous PLXNA3 variants. METHODS: Data-sharing through GeneDx and GeneMatcher allowed identification of individuals with autism or intellectual disabilities (autism/ID) and hemizygous PLXNA3 variants in collaboration with their physicians and genetic counselors, who completed questionnaires about their patients. In silico analyses predicted pathogenicity for each PLXNA3 variant. RESULTS: We assessed 14 boys (mean age, 10.7 [range 2 to 25] years) with maternally inherited hemizygous PLXNA3 variants and autism/ID ranging from mild to severe. Other findings included fine motor dyspraxia (92%), attention-deficit/hyperactivity traits, and aggressive behaviors (63%). Six patients (43%) had seizures. Thirteen boys (93%) with PLXNA3 variants showed novel or very low allele frequencies and probable damaging/disease-causing pathogenicity in one or more predictors. We found a genotype-phenotype correlation between PLXNA3 cytoplasmic domain variants (exons 22 to 32) and more severe neurodevelopmental disorder phenotypes (P < 0.05). CONCLUSIONS: We report 14 boys with maternally inherited, hemizygous PLXNA3 variants and a range of neurodevelopmental disorders suggesting a novel X-linked intellectual disability syndrome. Greater understanding of PLXNA3 variant pathogenicity in humans will require additional clinical, computational, and experimental validation.


Assuntos
Transtorno do Espectro Autista/genética , Moléculas de Adesão Celular/fisiologia , Deficiência Intelectual/genética , Proteínas do Tecido Nervoso/fisiologia , Receptores de Superfície Celular/genética , Semaforinas/fisiologia , Adolescente , Adulto , Transtorno do Espectro Autista/fisiopatologia , Criança , Pré-Escolar , Estudos de Associação Genética , Humanos , Deficiência Intelectual/fisiopatologia , Masculino , Transdução de Sinais/fisiologia , Adulto Jovem
13.
Med Sci Sports Exerc ; 54(3): 447-455, 2022 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-34628448

RESUMO

PURPOSE: Adolescents with autism spectrum disorder (ASD) rarely meet physical activity (PA) guidelines, thus not reaping associated health benefits. Although many barriers exist, abnormal or inefficient gait biomechanics could negatively impact engagement in PA. This study has two purposes: first, to compare total body mechanical work between adolescents with ASD and neurotypical age-, sex-, and body mass index-matched controls, and second to determine whether gait biomechanics are significantly related to engagement in PA. METHODS: Twenty-five adolescents (age, 13-18 yr) with ASD and 17 neurotypical controls (eight with ASD had no match) participated in the study. Three-dimensional motion capture and force platforms were used to record and analyze gait biomechanics at self-selected speeds and a standardized 1.3 m·s-1. Total body mechanical work (sum of joint works across lower extremity, low back, torso, and shoulders) was compared between groups (n = 17 for each) and speeds using a mixed model analysis of variance. Average daily light PA, moderate to vigorous PA, and total PA was recorded for the entire data set with ASD using triaxial accelerometers worn for 1 wk. Regression analyses were performed between work, stride time variability, speed, and stride length with each PA variable. RESULTS: Adolescents with ASD generated 9% more work compared with the controls (P = 0.016). Speed and stride length were significant regressors of light PA, moderate to vigorous PA, and total PA, explaining greater than 0.20 variance (P < 0.02 for all regressions). CONCLUSIONS: Although adolescents with ASD walked with significantly greater work, the complex full-body variable is not significantly related to engagement in PA. In agreement with research spanning multiple populations and ages, speed and stride length are indicative of PA engagement in adolescents with ASD.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Exercício Físico/fisiologia , Marcha/fisiologia , Adolescente , Fenômenos Biomecânicos , Feminino , Humanos , Masculino
14.
Brain Dev ; 44(2): 81-94, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34563417

RESUMO

BACKGROUND: Atypical sensory behavior disrupts behavioral adaptation in children with autism spectrum disorder (ASD); however, neural correlates of sensory dysfunction using magnetoencephalography (MEG) remain unclear. METHOD: We used MEG to measure the cortical activation elicited by visual (uni)/audiovisual (multisensory) movies in 46 children (7-14 years) were included in final analysis: 13 boys with atypical audiovisual behavior in ASD (AAV+), 10 without this condition, and 23 age-matched typically developing boys. RESULTS: The AAV+ group demonstrated an increase in the cortical activation in the bilateral insula in response to unisensory movies and in the left occipital, right superior temporal sulcus (rSTS), and temporal regions to multisensory movies. These increased responses were correlated with severity of the sensory impairment. Increased theta-low gamma oscillations were observed in the rSTS in AAV+. CONCLUSION: The findings suggest that AAV is attributed to atypical neural networks centered on the rSTS.


Assuntos
Percepção Auditiva/fisiologia , Transtorno do Espectro Autista/fisiopatologia , Ondas Encefálicas/fisiologia , Córtex Cerebral/fisiopatologia , Transtornos da Percepção/fisiopatologia , Transtornos das Sensações/fisiopatologia , Percepção Visual/fisiologia , Adolescente , Criança , Humanos , Magnetoencefalografia , Masculino , Filmes Cinematográficos
15.
Hum Brain Mapp ; 43(2): 844-859, 2022 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-34716740

RESUMO

Sensorimotor abnormalities are common in autism spectrum disorder (ASD) and predictive of functional outcomes, though their neural underpinnings remain poorly understood. Using functional magnetic resonance imaging, we examined both brain activation and functional connectivity during visuomotor behavior in 27 individuals with ASD and 30 typically developing (TD) controls (ages 9-35 years). Participants maintained a constant grip force while receiving visual feedback at three different visual gain levels. Relative to controls, ASD participants showed increased force variability, especially at high gain, and reduced entropy. Brain activation was greater in individuals with ASD than controls in supplementary motor area, bilateral superior parietal lobules, and contralateral middle frontal gyrus at high gain. During motor action, functional connectivity was reduced between parietal-premotor and parietal-putamen in individuals with ASD compared to controls. Individuals with ASD also showed greater age-associated increases in functional connectivity between cerebellum and visual, motor, and prefrontal cortical areas relative to controls. These results indicate that visuomotor deficits in ASD are associated with atypical activation and functional connectivity of posterior parietal, premotor, and striatal circuits involved in translating sensory feedback information into precision motor behaviors, and that functional connectivity of cerebellar-cortical sensorimotor and nonsensorimotor networks show delayed maturation.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Encéfalo/fisiopatologia , Conectoma , Rede Nervosa/fisiopatologia , Desempenho Psicomotor/fisiologia , Adolescente , Adulto , Transtorno do Espectro Autista/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Rede Nervosa/diagnóstico por imagem , Adulto Jovem
16.
Sci Rep ; 11(1): 23471, 2021 12 06.
Artigo em Inglês | MEDLINE | ID: mdl-34873263

RESUMO

Autism spectrum disorders (ASD) are neurodevelopmental disorders, that are characterized by core symptoms, such as alterations of social communication and restrictive or repetitive behavior. The etiology and pathophysiology of disease is still unknown, however, there is a strong interaction between genetic and environmental factors. An intriguing point in autism research is identification the vulnerable time periods of brain development that lack compensatory homeostatic corrections. Valproic acid (VPA) is an antiepileptic drug with a pronounced teratogenic effect associated with a high risk of ASD, and its administration to rats during the gestation is used for autism modeling. It has been hypothesized that valproate induced damage and functional alterations of autism target structures may occur and evolve during early postnatal life. Here, we used prenatal and postnatal administrations of VPA to investigate the main behavioral features which are associated with autism spectrum disorders core symptoms were tested in early juvenile and adult rats. Neuroanatomical lesion of autism target structures and electrophysiological studies in specific neural circuits. Our results showed that prenatal and early postnatal administration of valproate led to the behavioral alterations that were similar to ASD. Postnatally treated group showed tendency to normalize in adulthood. We found pronounced structural changes in the brain target regions of prenatally VPA-treated groups, and an absence of abnormalities in postnatally VPA-treated groups, which confirmed the different severity of VPA across different stages of brain development. The results of this study clearly show time dependent effect of VPA on neurodevelopment, which might be explained by temporal differences of brain regions' development process. Presumably, postnatal administration of valproate leads to the dysfunction of synaptic networks that is recovered during the lifespan, due to the brain plasticity and compensatory ability of circuit refinement. Therefore, investigations of compensatory homeostatic mechanisms activated after VPA administration and directed to eliminate the defects in postnatal brain, may elucidate strategies to improve the course of disease.


Assuntos
Anticonvulsivantes/efeitos adversos , Transtorno do Espectro Autista/induzido quimicamente , Transtorno do Espectro Autista/fisiopatologia , Transtorno Autístico/induzido quimicamente , Transtorno Autístico/fisiopatologia , Ácido Valproico/efeitos adversos , Animais , Comportamento Animal/efeitos dos fármacos , Comportamento Animal/fisiologia , Encéfalo/efeitos dos fármacos , Encéfalo/fisiopatologia , Modelos Animais de Doenças , Feminino , Masculino , Plasticidade Neuronal/efeitos dos fármacos , Estresse Oxidativo/efeitos dos fármacos , Gravidez , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Efeitos Tardios da Exposição Pré-Natal/fisiopatologia , Ratos , Ratos Sprague-Dawley , Comportamento Social
17.
Cell Rep ; 37(5): 109939, 2021 11 02.
Artigo em Inglês | MEDLINE | ID: mdl-34731627

RESUMO

Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder, causing defects of social interaction and repetitive behaviors. Here, we identify a de novo heterozygous gene-truncating mutation of the Sentrin-specific peptidase1 (SENP1) gene in people with ASD without neurodevelopmental delay. We find that Senp1+/- mice exhibit core autistic-like symptoms such as social deficits and repetitive behaviors but normal learning and memory ability. Moreover, we find that inhibitory and excitatory synaptic functions are severely affected in the retrosplenial agranular (RSA) cortex of Senp1+/- mice. Lack of Senp1 leads to increased SUMOylation and degradation of fragile X mental retardation protein (FMRP), also implicated in syndromic ASD. Importantly, re-introducing SENP1 or FMRP specifically in RSA fully rescues the defects of synaptic function and autistic-like symptoms of Senp1+/- mice. Together, these results demonstrate that disruption of the SENP1-FMRP regulatory axis in the RSA causes autistic symptoms, providing a candidate region for ASD pathophysiology.


Assuntos
Transtorno do Espectro Autista/enzimologia , Comportamento Animal , Cisteína Endopeptidases/metabolismo , Giro do Cíngulo/enzimologia , Sinapses/enzimologia , Animais , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/psicologia , Estudos de Casos e Controles , Células Cultivadas , Cisteína Endopeptidases/genética , Modelos Animais de Doenças , Potenciais Pós-Sinápticos Excitadores , Feminino , Proteína do X Frágil de Retardo Mental/metabolismo , Predisposição Genética para Doença , Asseio Animal , Giro do Cíngulo/fisiopatologia , Haploinsuficiência , Humanos , Potenciais Pós-Sinápticos Inibidores , Locomoção , Masculino , Aprendizagem em Labirinto , Camundongos Endogâmicos C57BL , Camundongos Knockout , Mutação , Fenótipo , Comportamento Social , Sumoilação
18.
Nutrients ; 13(11)2021 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-34836104

RESUMO

Autism spectrum disorder is characterized by social communication deficit and non-normative behavior. The people with autism often experience troubles with feeding. The purpose of this study was to conduct evaluation of the feeding and eating behaviors among children with autism. PATIENTS AND METHODS: The study group included 41 high-functioning autistic children. The control group consisted of 34 children without the ASD. The questionnaire was used to assess the nutritional status. RESULTS: The children with ASD fuss during mealtimes more frequently, they require entertaining and diverting their attention, they are fed by parents, and they consume their meals away from the table. The significant difference found in the use of utensils and food selectivity works to the disadvantage of the Study Group. CONCLUSIONS: The food selectivity occurs significantly more frequently among children with ASD. The feeding and eating problems should be considered on a wider scale. The cooperation of the multidisciplinary and the parents teams should be proposed in the ASD patients care.


Assuntos
Transtorno do Espectro Autista/psicologia , Comportamento Alimentar/psicologia , Preferências Alimentares/psicologia , Estado Nutricional , Transtorno do Espectro Autista/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Projetos Piloto , Inquéritos e Questionários
19.
Sci Rep ; 11(1): 23093, 2021 11 29.
Artigo em Inglês | MEDLINE | ID: mdl-34845298

RESUMO

In this systematic review, we analyzed and evaluated the findings of studies on prosodic features of vocal productions of people with autism spectrum disorder (ASD) in order to recognize the statistically significant, most confirmed and reliable prosodic differences distinguishing people with ASD from typically developing individuals. Using suitable keywords, three major databases including Web of Science, PubMed and Scopus, were searched. The results for prosodic features such as mean pitch, pitch range and variability, speech rate, intensity and voice duration were extracted from eligible studies. The pooled standard mean difference between ASD and control groups was extracted or calculated. Using I2 statistic and Cochrane Q-test, between-study heterogeneity was evaluated. Furthermore, publication bias was assessed using funnel plot and its significance was evaluated using Egger's and Begg's tests. Thirty-nine eligible studies were retrieved (including 910 and 850 participants for ASD and control groups, respectively). This systematic review and meta-analysis showed that ASD group members had a significantly larger mean pitch (SMD = - 0.4, 95% CI [- 0.70, - 0.10]), larger pitch range (SMD = - 0.78, 95% CI [- 1.34, - 0.21]), longer voice duration (SMD = - 0.43, 95% CI [- 0.72, - 0.15]), and larger pitch variability (SMD = - 0.46, 95% CI [- 0.84, - 0.08]), compared with typically developing control group. However, no significant differences in pitch standard deviation, voice intensity and speech rate were found between groups. Chronological age of participants and voice elicitation tasks were two sources of between-study heterogeneity. Furthermore, no publication bias was observed during analyses (p > 0.05). Mean pitch, pitch range, pitch variability and voice duration were recognized as the prosodic features reliably distinguishing people with ASD from TD individuals.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Emoções/fisiologia , Percepção da Fala/fisiologia , Fala/fisiologia , Voz/fisiologia , Estimulação Acústica/métodos , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Adulto Jovem
20.
Biochem Biophys Res Commun ; 585: 29-35, 2021 12 31.
Artigo em Inglês | MEDLINE | ID: mdl-34781058

RESUMO

Epidemiologic evidence has suggested a relationship between di (2-ethylhexyl) phthalate (DEHP) prenatal exposure and autism spectrum disorders (ASD), but the underlying mechanisms are still at large unknown. In this study, pregnant mice were intragastrically administered with DEHP once a day from GD 3 to GD 17 and the neurobehavioral changes of offspring were evaluated. In addition to the repetitive stereotyped behaviors, DEHP at the concentration of 50 mg/kg/day and above significantly impaired the sociability of the offspring (P < 0.05) and decreased the density of dendritic spines of pyramidal neurons in the prefrontal cortex (P < 0.05). At the same time, the expression of Nischarin protein in prefrontal lobe increased (P < 0.05). Similarly, after 12-h incubation of DEHP at the concentration of 100 nM, the total spine density, especially the mushroom and stubby spine populations, significantly decreased in the primary cultured prefrontal cortical neurons (P < 0.05). However, the inhibitory effect of DEHP were reversed by knockdown of Nischarin expression. Collectively, these results suggest that prenatal DEHP exposure induces Nischarin expression, causes dendritic spine loss, and finally leads to autism-like behavior in mouse offspring.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Dietilexilftalato/toxicidade , Receptores de Imidazolinas/metabolismo , Córtex Pré-Frontal/efeitos dos fármacos , Efeitos Tardios da Exposição Pré-Natal/fisiopatologia , Animais , Transtorno do Espectro Autista/induzido quimicamente , Linhagem Celular Tumoral , Células Cultivadas , Espinhas Dendríticas/efeitos dos fármacos , Espinhas Dendríticas/fisiologia , Feminino , Receptores de Imidazolinas/genética , Camundongos Endogâmicos ICR , Plastificantes/toxicidade , Córtex Pré-Frontal/citologia , Córtex Pré-Frontal/metabolismo , Gravidez , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Efeitos Tardios da Exposição Pré-Natal/metabolismo , Células Piramidais/efeitos dos fármacos , Células Piramidais/metabolismo , Comportamento Social
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