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1.
Siglo cero (Madr.) ; 54(4): 65-83, oct.-dic. 2024.
Artigo em Espanhol | IBECS | ID: ibc-EMG-559

RESUMO

La falta de información sobre el uso de la tecnología en niños con trastorno del espectro autista (TEA) de diferentes perfiles puede dificultar que docentes y alumnos se estén beneficiando del apoyo tecnológico más eficaz y ajustado a sus necesidades. El objetivo de esta revisión fue analizar y sintetizar la evidencia científica sobre la eficacia de los recursos tecnológicos en la mejora de la comprensión emocional de estudiantes con TEA con perfiles de alto y bajo funcionamiento. Para ello se realizó una revisión sistemática de las publicaciones científicas indexadas en algunas de las bases de datos de mayor relevancia siguiendo los criterios establecidos en la declaración PRISMA. En total se analizaron 38 artículos que cumplieron con los criterios de inclusión preestablecidos. Los resultados muestran la importancia de diseñar sistemas versátiles que puedan personalizarse y adaptarse en tiempo real y en contextos naturales con un enfoque claramente inclusivo. Pero también sugieren que la tecnología puede no ser una herramienta de intervención complementaria adecuada para todos los niños con TEA. Lo que subraya la necesidad de ensayos adicionales bien controlados sobre las características que permitan identificar qué estudiantes podrían o no beneficiarse de diferentes modalidades de tecnología. (AU)


The lack of information on the use of technology in children with autism spectrum disorder (ASD) of different profiles can make it difficult for teachers and students to benefit from the most effective technology support tailored to their needs. The aim of this review was to analyze and synthesize scientific evidence on the effectiveness of technological resources in improving the emotional understanding of students with high and low functioning ASD profiles. A systematic review of the scientific publications indexed in some of the most relevant databases was carried out following the criteria established in the PRISMA declaration. A total of 38 articles that met the pre-established inclusion criteria were analyzed. The results show the importance of designing versatile systems that can be customized and adapted in real time and in natural contexts with a clearly inclusive approach. But they also suggest that technology may not be an appropriate complementary intervention tool for all children with ASD. This underlines the need for additional well-controlled tests on the characteristics that would allow identifying which students might or might not benefit from different technology modalities. (AU)


Assuntos
Humanos , Pré-Escolar , Criança , Adolescente , Tecnologia Educacional , Transtorno do Espectro Autista , Transtorno Autístico
2.
Siglo cero (Madr.) ; 54(4): 65-83, oct.-dic. 2024.
Artigo em Espanhol | IBECS | ID: ibc-229229

RESUMO

La falta de información sobre el uso de la tecnología en niños con trastorno del espectro autista (TEA) de diferentes perfiles puede dificultar que docentes y alumnos se estén beneficiando del apoyo tecnológico más eficaz y ajustado a sus necesidades. El objetivo de esta revisión fue analizar y sintetizar la evidencia científica sobre la eficacia de los recursos tecnológicos en la mejora de la comprensión emocional de estudiantes con TEA con perfiles de alto y bajo funcionamiento. Para ello se realizó una revisión sistemática de las publicaciones científicas indexadas en algunas de las bases de datos de mayor relevancia siguiendo los criterios establecidos en la declaración PRISMA. En total se analizaron 38 artículos que cumplieron con los criterios de inclusión preestablecidos. Los resultados muestran la importancia de diseñar sistemas versátiles que puedan personalizarse y adaptarse en tiempo real y en contextos naturales con un enfoque claramente inclusivo. Pero también sugieren que la tecnología puede no ser una herramienta de intervención complementaria adecuada para todos los niños con TEA. Lo que subraya la necesidad de ensayos adicionales bien controlados sobre las características que permitan identificar qué estudiantes podrían o no beneficiarse de diferentes modalidades de tecnología. (AU)


The lack of information on the use of technology in children with autism spectrum disorder (ASD) of different profiles can make it difficult for teachers and students to benefit from the most effective technology support tailored to their needs. The aim of this review was to analyze and synthesize scientific evidence on the effectiveness of technological resources in improving the emotional understanding of students with high and low functioning ASD profiles. A systematic review of the scientific publications indexed in some of the most relevant databases was carried out following the criteria established in the PRISMA declaration. A total of 38 articles that met the pre-established inclusion criteria were analyzed. The results show the importance of designing versatile systems that can be customized and adapted in real time and in natural contexts with a clearly inclusive approach. But they also suggest that technology may not be an appropriate complementary intervention tool for all children with ASD. This underlines the need for additional well-controlled tests on the characteristics that would allow identifying which students might or might not benefit from different technology modalities. (AU)


Assuntos
Humanos , Pré-Escolar , Criança , Adolescente , Tecnologia Educacional , Transtorno do Espectro Autista , Transtorno Autístico
6.
Top Magn Reson Imaging ; 33(3): e0312, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38836588

RESUMO

BACKGROUND: Altered size in the corpus callosum (CC) has been reported in individuals with autism spectrum disorder (ASD), but few studies have investigated younger children. Moreover, knowledge about the age-related changes in CC size in individuals with ASD is limited. OBJECTIVES: Our objective was to investigate the age-related size of the CC and compare them with age-matched healthy controls between the ages of 2 and 18 years. METHODS: Structural-weighted images were acquired in 97 male patients diagnosed with ASD; published data were used for the control group. The CC was segmented into 7 distinct subregions (rostrum, genu, rostral body, anterior midbody, posterior midbody, isthmus, and splenium) as per Witelson's technique using ITK-SNAP software. We calculated both the total length and volume of the CC as well as the length and height of its 7 subregions. The length of the CC measures was studied as both continuous and categorical forms. For the continuous form, Pearson's correlation was used, while categorical forms were based on age ranges reflecting brain expansion during early postnatal years. Differences in CC measures between adjacent age groups in individuals with ASD were assessed using a Student t-test. Mean and standard deviation scores were compared between ASD and control groups using the Welch t-test. RESULTS: Age showed a moderate positive association with the total length of the CC (r = 0.43; Padj = 0.003) among individuals with ASD. Among the subregions, a positive association was observed only in the anterior midbody of the CC (r = 0.41; Padj = 0.01). No association was found between the age and the height of individual subregions or with the total volume of the CC. In comparison with healthy controls, individuals with ASD exhibited shorter lengths and heights of the genu and splenium of the CC across wide age ranges. CONCLUSION: Overall, our results highlight a distinct abnormal developmental trajectory of CC in ASD, particularly in the genu and splenium structures, potentially reflecting underlying pathophysiological mechanisms that warrant further investigation.


Assuntos
Transtorno do Espectro Autista , Corpo Caloso , Imageamento por Ressonância Magnética , Humanos , Masculino , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/patologia , Criança , Adolescente , Pré-Escolar , Feminino , Processamento de Imagem Assistida por Computador
7.
Cell Mol Biol (Noisy-le-grand) ; 70(6): 66-72, 2024 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-38836680

RESUMO

This study aimed to investigate the mechanism of the effect of TREM2 on cognitive function in autistic mice. TREM2 overexpression and knockdown viruses were given to autism spectrum disorder (ASD) mice and BV2 microglia cell line. To assess cognitive performance, all groups of mice took part in the open field, new object recognition, Morris water maze, and three-box social experiments. Double immunofluorescence labeling demonstrated co-localization of LC3II and NeuN. Proteins from the PI3K/Akt/mTOR pathway were identified. In vivo, behavior studies revealed that TREM2 could successfully improve ASD mice's social interaction and cognitive performance. Besides, we discovered that TREM2 could increase autophagy in ASD mice. In vitro, overexpressing TREM2 reduced the expression of PI3K/AKT/mTOR pathway proteins, whereas knocking down TREM2 increased the expression of PI3K/AKT/mTOR pathway proteins. In conclusion, TREM2 could inhibit PI3K/Akt/mTOR signaling pathway, enhance autophagy, and improve the social communication ability and cognitive function of ASD mice.


Assuntos
Autofagia , Cognição , Glicoproteínas de Membrana , Microglia , Fosfatidilinositol 3-Quinases , Proteínas Proto-Oncogênicas c-akt , Receptores Imunológicos , Transdução de Sinais , Serina-Treonina Quinases TOR , Animais , Cognição/fisiologia , Glicoproteínas de Membrana/metabolismo , Glicoproteínas de Membrana/genética , Fosfatidilinositol 3-Quinases/metabolismo , Receptores Imunológicos/metabolismo , Receptores Imunológicos/genética , Serina-Treonina Quinases TOR/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Camundongos , Microglia/metabolismo , Masculino , Transtorno Autístico/metabolismo , Transtorno Autístico/genética , Transtorno do Espectro Autista/metabolismo , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/psicologia , Modelos Animais de Doenças , Comportamento Animal , Linhagem Celular , Camundongos Endogâmicos C57BL , Comportamento Social
8.
Transl Psychiatry ; 14(1): 231, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38824172

RESUMO

Mapping brain-behaviour associations is paramount to understand and treat psychiatric disorders. Standard approaches involve investigating the association between one brain and one behavioural variable (univariate) or multiple variables against one brain/behaviour feature ('single' multivariate). Recently, large multimodal datasets have propelled a new wave of studies that leverage on 'doubly' multivariate approaches capable of parsing the multifaceted nature of both brain and behaviour simultaneously. Within this movement, canonical correlation analysis (CCA) and partial least squares (PLS) emerge as the most popular techniques. Both seek to capture shared information between brain and behaviour in the form of latent variables. We provide an overview of these methods, review the literature in psychiatric disorders, and discuss the main challenges from a predictive modelling perspective. We identified 39 studies across four diagnostic groups: attention deficit and hyperactive disorder (ADHD, k = 4, N = 569), autism spectrum disorders (ASD, k = 6, N = 1731), major depressive disorder (MDD, k = 5, N = 938), psychosis spectrum disorders (PSD, k = 13, N = 1150) and one transdiagnostic group (TD, k = 11, N = 5731). Most studies (67%) used CCA and focused on the association between either brain morphology, resting-state functional connectivity or fractional anisotropy against symptoms and/or cognition. There were three main findings. First, most diagnoses shared a link between clinical/cognitive symptoms and two brain measures, namely frontal morphology/brain activity and white matter association fibres (tracts between cortical areas in the same hemisphere). Second, typically less investigated behavioural variables in multivariate models such as physical health (e.g., BMI, drug use) and clinical history (e.g., childhood trauma) were identified as important features. Finally, most studies were at risk of bias due to low sample size/feature ratio and/or in-sample testing only. We highlight the importance of carefully mitigating these sources of bias with an exemplar application of CCA.


Assuntos
Encéfalo , Transtornos Mentais , Humanos , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Transtornos Mentais/fisiopatologia , Transtorno do Espectro Autista/fisiopatologia , Transtorno Depressivo Maior/fisiopatologia , Análise de Correlação Canônica , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Análise dos Mínimos Quadrados
9.
Folia Biol (Praha) ; 70(1): 45-52, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38830122

RESUMO

Effective treatment of patients with autism spectrum disorder (ASD) is still absent so far. Taurine exhibits therapeutic effects towards the autism-like behaviour in ASD model animals. Here, we determined the mechanism of taurine effect on hippocampal neurogenesis in genetically inbred BTBR T+ tf/J (BTBR) mice, a proposed model of ASD. In this ASD mouse model, we explored the effect of oral taurine supplementation on ASD-like behaviours in an open field test, elevated plus maze, marble burying test, self-grooming test, and three-chamber test. The mice were divided into four groups of normal controls (WT) and models (BTBR), who did or did not receive 6-week taurine supplementation in water (WT, WT+ Taurine, BTBR, and BTBR+Taurine). Neurogenesis-related effects were determined by Ki67 immunofluorescence staining. Western blot analysis was performed to detect the expression of phosphatase and tensin homologue deleted from chromosome 10 (PTEN)/mTOR/AKT pathway-associated proteins. Our results showed that taurine improved the autism-like behaviour, increased the proliferation of hippocampal cells, promoted PTEN expression, and reduced phosphorylation of mTOR and AKT in hippocampal tissue of the BTBR mice. In conclusion, taurine reduced the autism-like behaviour in partially inherited autism model mice, which may be associa-ted with improving the defective neural precursor cell proliferation and enhancing the PTEN-associated pathway in hippocampal tissue.


Assuntos
Transtorno Autístico , Hipocampo , Neurogênese , PTEN Fosfo-Hidrolase , Proteínas Proto-Oncogênicas c-akt , Transdução de Sinais , Serina-Treonina Quinases TOR , Taurina , Animais , Taurina/farmacologia , Hipocampo/metabolismo , Hipocampo/efeitos dos fármacos , Serina-Treonina Quinases TOR/metabolismo , PTEN Fosfo-Hidrolase/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Transdução de Sinais/efeitos dos fármacos , Neurogênese/efeitos dos fármacos , Transtorno Autístico/metabolismo , Transtorno Autístico/tratamento farmacológico , Masculino , Comportamento Animal/efeitos dos fármacos , Camundongos , Modelos Animais de Doenças , Transtorno do Espectro Autista/metabolismo , Transtorno do Espectro Autista/tratamento farmacológico , Proliferação de Células/efeitos dos fármacos
10.
Mol Autism ; 15(1): 23, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38831439

RESUMO

BACKGROUND: Categorization and its influence on perceptual discrimination are essential processes to organize information efficiently. Individuals with Autism Spectrum Condition (ASC) are suggested to display enhanced discrimination on the one hand, but also to experience difficulties with generalization and ignoring irrelevant differences on the other, which underlie categorization. Studies on categorization and discrimination in ASC have mainly focused on one process at a time, however, and typically only used either behavioral or neural measures in isolation. Here, we aim to investigate the interrelationships between these perceptual processes using novel stimuli sampled from a well-controlled artificial stimulus space. In addition, we complement standard behavioral psychophysical tasks with frequency-tagging EEG (FT-EEG) to obtain a direct, non-task related neural index of discrimination and categorization. METHODS: The study was completed by 38 adults with ASC and 38 matched neurotypical (NT) individuals. First, we assessed baseline discrimination sensitivity by administering FT-EEG measures and a complementary behavioral task. Second, participants were trained to categorize the stimuli into two groups. Finally, participants again completed the neural and behavioral discrimination sensitivity measures. RESULTS: Before training, NT participants immediately revealed a categorical tuning of discrimination, unlike ASC participants who showed largely similar discrimination sensitivity across the stimuli. During training, both autistic and non-autistic participants were able to categorize the stimuli into two groups. However, in the initial training phase, ASC participants were less accurate and showed more variability, as compared to their non-autistic peers. After training, ASC participants showed significantly enhanced neural and behavioral discrimination sensitivity across the category boundary. Behavioral indices of a reduced categorical processing and perception were related to the presence of more severe autistic traits. Bayesian analyses confirmed overall results. LIMITATIONS: Data-collection occurred during the COVID-19 pandemic. CONCLUSIONS: Our behavioral and neural findings indicate that adults with and without ASC are able to categorize highly similar stimuli. However, while categorical tuning of discrimination sensitivity was spontaneously present in the NT group, it only emerged in the autistic group after explicit categorization training. Additionally, during training, adults with autism were slower at category learning. Finally, this multi-level approach sheds light on the mechanisms underlying sensory and information processing issues in ASC.


Assuntos
Eletroencefalografia , Humanos , Masculino , Adulto , Feminino , Adulto Jovem , Transtorno Autístico/fisiopatologia , Transtorno Autístico/psicologia , Discriminação Psicológica , Aprendizagem , Estimulação Luminosa , Percepção Visual , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/psicologia
11.
Dialogues Clin Neurosci ; 26(1): 24-27, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38829782

RESUMO

INTRODUCTION: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a multifaceted etiology. This case report explores the ischemic cryptogenic vascular dissection as a potential underlying cause of ASD. METHODS: A 9-year-old child presented with symptoms of ASD, including social interaction difficulties, repetitive behaviors, and cognitive challenges. Despite conventional ASD treatments, significant improvement was only observed after addressing an underlying ischemic cryptogenic vascular dissection identified through DCE-CT. RESULTS: Following a reconstructive treatment approach to the vascular dissection, the patient showed marked improvement in cognitive functions, social abilities, and a reduction in ASD-related symptoms whether during the perioperative period or during approximately 5-month follow-up. CONCLUSION: This case suggests that ischemic cryptogenic vascular dissection may contribute to the symptoms of ASD. Identifying and treating underlying vascular anomalies may offer a new avenue for mitigating ASD symptoms, emphasizing the need for comprehensive diagnostic estimations in ASD management.


Assuntos
Transtorno do Espectro Autista , Humanos , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/complicações , Criança , Masculino , Microcefalia/complicações , Microcefalia/diagnóstico
12.
Sci Rep ; 14(1): 13168, 2024 06 07.
Artigo em Inglês | MEDLINE | ID: mdl-38849397

RESUMO

Autism spectrum disorder (ASD) is a pervasive neurodevelopmental condition characterized by social interaction deficits, communication impairments, repetitive behaviors, and sensory sensitivities. While the etiology of ASD is multifaceted, abnormalities in glutamatergic neurotransmission and synaptic plasticity have been implicated. This study investigated the role of metabotropic glutamate receptor 8 (mGlu8) in modulating long-term potentiation (LTP) in a rat model of ASD induced by prenatal valproic acid (VPA) exposure. To induce an animal model with autism-like characteristics, pregnant rats received an intraperitoneal injection of 500 mg/kg of sodium valproate (NaVPA) on embryonic day 12.5. High-frequency stimulation was applied to the perforant path-dentate gyrus (PP-DG) synapse to induce LTP, while the mGlu8 receptor agonist (S)-3,4-dicarboxyphenylglycine (DCPG) was administered into the DG. The results revealed that VPA-exposed rats exhibited reduced LTP compared to controls. DCPG had contrasting effects, inhibiting LTP in controls and enhancing it in VPA-exposed rats. Moreover, reduced social novelty preference index (SNPI) in VPA-exposed rats was reversed by intra-DG administration of S-3,4-DCPG. In conclusion, our study advances our understanding of the complex relationship between glutamatergic neurotransmission, synaptic plasticity, and VPA-induced autism model. The findings suggest that mGlu8 receptor dysfunction plays a role in the impaired synaptic plasticity seen in ASD.


Assuntos
Giro Denteado , Modelos Animais de Doenças , Potenciação de Longa Duração , Efeitos Tardios da Exposição Pré-Natal , Receptores de Glutamato Metabotrópico , Sinapses , Ácido Valproico , Animais , Ácido Valproico/farmacologia , Ácido Valproico/efeitos adversos , Potenciação de Longa Duração/efeitos dos fármacos , Feminino , Gravidez , Ratos , Giro Denteado/efeitos dos fármacos , Sinapses/efeitos dos fármacos , Sinapses/metabolismo , Receptores de Glutamato Metabotrópico/agonistas , Receptores de Glutamato Metabotrópico/metabolismo , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Via Perfurante/efeitos dos fármacos , Transtorno Autístico/induzido quimicamente , Glicina/análogos & derivados , Glicina/farmacologia , Hipocampo/efeitos dos fármacos , Hipocampo/metabolismo , Ratos Sprague-Dawley , Transtorno do Espectro Autista/induzido quimicamente , Masculino
13.
Am J Occup Ther ; 78(4)2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38857122

RESUMO

IMPORTANCE: Assessment of praxis skills is an essential aspect of understanding autistic children's development of play and playfulness. OBJECTIVE: To assess the relationship and influence of ideational praxis skills on play skills and playfulness among autistic children. DESIGN: A cross-sectional study. SETTINGS: Homes, schools, and early care centers across Spain. PARTICIPANTS: Children ages 4 yr 6 mo to 6 yr 11 mo (45 typically developing [TP] and 45 with autism spectrum disorder [ASD]). OUTCOMES AND MEASURES: Student's t tests were used to compare means between the two groups. Pearson's correlation and multiple linear regression were used to determine possible effects of ideational skills on play and playfulness. RESULTS: Scores for the TP group were significantly higher than those of the ASD group on all play dimensions-space management, t(88) = 4.58; material management, t(88) = 5.86; pretense-symbolism, t(88) = 8.12; and participation, t(88) = 7.31-and on the Test of Playfulness (ToP), t(88) = 10.18, and Test of Ideational Praxis (TIP), t(88) = 4.38 (all ps < .001). Multiple linear regression revealed a statistically significant effect of TIP dimensions-space management, F(3, 41) = 4.83, p < .042; material management, F(3.41) = 8.49. p < .001; pretense-symbolism, F(3, 41) = 5.66. p < .002; and participation, F(3.41) = 7.81. p < .001-and on the ToP, F(3, 41) = 5.96. p < .002. CONCLUSIONS AND RELEVANCE: Ideational praxis skills combined with diagnostic information significantly predicted play skills and playfulness, highlighting the influence of ideation on play. Plain-Language Summary: This article provides data supporting the influence of ideational praxis skills on the play skills and playfulness of autistic children. Understanding how ideational praxis skills affect the ability to recognize and act on object affordances might promote greater possibilities for play interactions among autistic children.


Assuntos
Transtorno do Espectro Autista , Jogos e Brinquedos , Humanos , Estudos Transversais , Masculino , Feminino , Criança , Pré-Escolar , Transtorno do Espectro Autista/reabilitação , Espanha , Transtorno Autístico/reabilitação
14.
J Appl Res Intellect Disabil ; 37(4): e13265, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38859732

RESUMO

BACKGROUND: In people with intellectual disabilities and/or autism spectrum disorder, oral midazolam (OM) is very effective as premedication for facilitating medical treatment. In this retrospective study, we investigated the optimal dosage of OM for premedication. METHODS: Patients with intellectual disability and/or autism spectrum disorder who were given OM as a premedication were selected from anaesthesia records. The primary outcome variable was the dose of OM (mg/kg) required to produce an adequate sedation. RESULTS: The mean OM dose required was 0.32 ± 0.10 mg/kg. The required OM dose decreased significantly as age and weight increased, and age and weight were also shown to be significantly associated with the dose of OM in the multivariate linear regression analysis. CONCLUSION: The dosage of OM to achieve adequate sedation should decrease as the patient ages. Furthermore, adequate sedation can be achieved with even lower doses of OM in obese people.


Assuntos
Transtorno do Espectro Autista , Hipnóticos e Sedativos , Deficiência Intelectual , Midazolam , Humanos , Transtorno do Espectro Autista/tratamento farmacológico , Midazolam/administração & dosagem , Masculino , Feminino , Adulto , Adulto Jovem , Estudos Retrospectivos , Hipnóticos e Sedativos/administração & dosagem , Adolescente , Criança , Pessoa de Meia-Idade , Administração Oral , Relação Dose-Resposta a Droga , Pré-Medicação
15.
J Neurodev Disord ; 16(1): 29, 2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38849752

RESUMO

BACKGROUND: Sleep disturbances are frequently reported in children with autism spectrum disorder (ASD) and are associated with the severity of co-occurring symptoms. This study's aim was to examine the extent of healthcare utilization and clinical outcomes associated with sleep disturbances in children with ASD. STUDY DESIGN: A retrospective, cross-sectional study of 541 children with ASD from the Azrieli National Center for Autism and Neurodevelopment Research (ANCAN) whose parents completed the Children's Sleep Habits Questionnaire (CSHQ). Children with a total CSHQ score ≥ 48 were defined as having sleep disturbances. Sociodemographic characteristics, ASD diagnostic measures, chronic co-occurring conditions, medication usage, hospitalizations, visits to the emergency room (ER), and visits to specialists were compared in ASD children with and without sleep disturbances. Multivariate logistic regression models were then used to assess the independent association of sleep disturbances with clinical characteristics and healthcare utilization. RESULTS: Of the 541 children with ASD, 257 (47.5%) had sleep disturbances. Children with sleep disturbances exhibited higher rates of multiple (≥ 3) co-occurring conditions (19.1% vs. 12.7%; p = 0.0414) and prescribed medications (45.5% vs. 32.7%; p = 0.0031) than other children. Finally, ASD children with sleep disturbances were 1.72 and 2.71 times more likely to visit the ER and be hospitalized than their counterparts (aOR = 1.72; 99%CI = 1.01-2.95; and aOR = 2.71; 99%CI = 1.10-6.67, respectively). CONCLUSIONS: Our findings suggest that sleep disturbances are associated with greater healthcare utilization among children with ASD. Further studies could examine whether treating sleep disturbances in children with ASD yields additional clinical benefits beyond improvements in sleep.


Assuntos
Transtorno do Espectro Autista , Aceitação pelo Paciente de Cuidados de Saúde , Transtornos do Sono-Vigília , Humanos , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/terapia , Masculino , Feminino , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologia , Transtornos do Sono-Vigília/terapia , Criança , Estudos Transversais , Estudos Retrospectivos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Pré-Escolar , Comorbidade , Adolescente , Hospitalização/estatística & dados numéricos
16.
Brain Behav ; 14(6): e3594, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38849980

RESUMO

INTRODUCTION: In vivo myeloarchitectonic mapping based on Magnetic Resonance Imaging (MRI) provides a unique view of gray matter myelin content and offers information complementary to other morphological indices commonly employed in studies of autism spectrum disorder (ASD). The current study sought to determine if intracortical myelin content (MC) and its age-related trajectories differ between middle aged to older adults with ASD and age-matched typical comparison participants. METHODS: Data from 30 individuals with ASD and 36 age-matched typical comparison participants aged 40-70 years were analyzed. Given substantial heterogeneity in both etiology and outcomes in ASD, we utilized both group-level and subject-level analysis approaches to test for signs of atypical intracortical MC as estimated by T1w/T2w ratio. RESULTS: Group-level analyses showed no significant differences in average T1w/T2w ratio or its associations with age between groups, but revealed significant positive main effects of age bilaterally, with T1w/T2w ratio increasing with age across much of the cortex. In subject-level analyses, participants were classified into subgroups based on presence or absence of clusters of aberrant T1w/T2w ratio, and lower neuropsychological function was observed in the ASD subgroup with atypically high T1w/T2w ratio in spatially heterogeneous cortical regions. These differences were observed across several neuropsychological domains, including overall intellectual functioning, processing speed, and aspects of executive function. CONCLUSIONS: The group-level and subject-level approaches employed here demonstrate the value of examining inter-individual variability and provide important preliminary insights into relationships between brain structure and cognition in the second half of the lifespan in ASD, suggesting shared factors contributing to atypical intracortical myelin content and poorer cognitive outcomes for a subset of middle aged to older autistic adults. These atypicalities likely reflect diverse histories of neurodevelopmental deficits, and possible compensatory changes, compounded by processes of aging, and may serve as useful markers of vulnerability to further cognitive decline in older adults with ASD.


Assuntos
Transtorno do Espectro Autista , Imageamento por Ressonância Magnética , Bainha de Mielina , Humanos , Masculino , Feminino , Idoso , Pessoa de Meia-Idade , Bainha de Mielina/patologia , Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/metabolismo , Transtorno do Espectro Autista/patologia , Adulto , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/patologia , Córtex Cerebral/fisiopatologia , Testes Neuropsicológicos , Envelhecimento/fisiologia , Envelhecimento/patologia
17.
Philos Trans R Soc Lond B Biol Sci ; 379(1906): 20230230, 2024 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-38853567

RESUMO

The family of SHANK proteins have been shown to be critical in regulating glutamatergic synaptic structure, function and plasticity. SHANK variants are also prevalent in autism spectrum disorders (ASDs), where glutamatergic synaptopathology has been shown to occur in multiple ASD mouse models. Our previous work has shown that dietary zinc in Shank3-/- and Tbr1+/- ASD mouse models can reverse or prevent ASD behavioural and synaptic deficits. Here, we have examined whether dietary zinc can influence behavioural and synaptic function in Shank2-/- mice. Our data show that dietary zinc supplementation can reverse hyperactivity and social preference behaviour in Shank2-/- mice, but it does not alter deficits in working memory. Consistent with this, at the synaptic level, deficits in NMDA/AMPA receptor-mediated transmission are also not rescued by dietary zinc. In contrast to other ASD models examined, we observed that SHANK3 protein was highly expressed at the synapses of Shank2-/- mice and that dietary zinc returned these to wild-type levels. Overall, our data show that dietary zinc has differential effectiveness in altering ASD behaviours and synaptic function across ASD mouse models even within the Shank family. This article is part of a discussion meeting issue 'Long-term potentiation: 50 years on'.


Assuntos
Transtorno do Espectro Autista , Suplementos Nutricionais , Camundongos Knockout , Proteínas do Tecido Nervoso , Zinco , Animais , Zinco/administração & dosagem , Zinco/deficiência , Zinco/metabolismo , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Camundongos , Suplementos Nutricionais/análise , Transtorno do Espectro Autista/dietoterapia , Modelos Animais de Doenças , Masculino , Comportamento Animal , Transtorno Autístico/dietoterapia , Transtorno Autístico/genética , Proteínas dos Microfilamentos/metabolismo , Proteínas dos Microfilamentos/genética , Camundongos Endogâmicos C57BL
18.
PLoS One ; 19(6): e0303959, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38843176

RESUMO

Phase-amplitude coupling (PAC) has been used as a powerful tool to understand the mechanism underlying neural binding by investigating neural synchrony across different frequency bands. This study examined the possibility that dysregulated alpha-gamma modulation may be crucially involved in aberrant brain functioning in autism spectrum disorder (ASD). Magnetoencephalographic data were recorded from 13 adult participants with ASD and 16 controls. The time-coursed sources averaged over a primary visual area 1 and fusiform gyrus area were reconstructed with the minimum-norm estimate method. The alpha-gamma PAC was further calculated based on these sources. The statistical analysis was implemented based on the PAC and directed asymmetry index. The results showed the hyper-activity coupling for ASD at the no-face condition and revealed the importance of alpha-gamma phase modulation in detecting a face. Our data provides novel evidence for the role of the alpha-gamma PAC and suggests that the globe connectivity may be more critical during visual perception.


Assuntos
Transtorno do Espectro Autista , Magnetoencefalografia , Percepção Visual , Humanos , Transtorno do Espectro Autista/fisiopatologia , Masculino , Adulto , Feminino , Percepção Visual/fisiologia , Adulto Jovem , Mapeamento Encefálico/métodos , Estudos de Casos e Controles
19.
Mol Autism ; 15(1): 24, 2024 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-38845057

RESUMO

BACKGROUND: Brief questionnaires that comprehensively capture key restricted and repetitive behaviours (RRBs) across different informants have potential to support autism diagnostic services. We tested the psychometric properties of the 20-item Repetitive Behaviours Questionnaire-3 (RBQ-3), a questionnaire that includes self-report and informant-report versions enabling use across the lifespan. METHOD: In Study 1, adults referred to a specialised adult autism diagnostic service (N = 110) completed the RBQ-3 self-report version, and a relative or long-term friend completed the RBQ-3 informant-report version. Clinicians completed the abbreviated version of the Diagnostic Interview for Social and Communication Disorders (DISCO-Abbreviated) with the same adults as part of the diagnostic process. For half of the assessments, clinicians were blind to the RBQ-3 ratings. We tested internal consistency, cross-informant reliability and convergent validity of the RBQ-3. In Study 2, a follow-up online study with autistic (N = 151) and non-autistic (N = 151) adults, we further tested internal consistency of the RBQ-3 self-report version. We also tested group differences and response patterns in this sample. RESULTS: Study 1 showed good to excellent internal consistency for both self- and informant-report versions of the RBQ-3 (total score, α = 0.90, ω = 0.90, subscales, α = 0.76-0.89, ω = 0.77-0.88). Study 1 also showed cross-informant reliability as the RBQ-3 self-report scores significantly correlated with RBQ-3 informant-report scores for the total score (rs = 0.71) and subscales (rs= 0.69-0.72). Convergent validity was found for both self and informant versions of the RBQ-3, which significantly correlated with DISCO-Abbreviated RRB domain scores (rs = 0.45-0.54). Moreover, the RBQ-3 scores showed significantly weaker association with DISCO -Abbreviated scores for the Social Communication domain, demonstrating divergent validity. Importantly, these patterns of validity were found even when clinicians were blind to RBQ-3 items. In Study 2, for both autistic and non-autistic groups, internal consistency was found for the total score (α = 0.82-0.89, ω = 0.81-0.81) and for subscales (α = 0.68-0.85, ω = 0.69-0.85). A group difference was found between groups. LIMITATIONS: Due to the characteristics and scope of the specialist autism diagnostic service, further testing is needed to include representative samples of age (including children) and intellectual ability, and those with a non-autistic diagnostic outcome. CONCLUSIONS: The RBQ-3 is a questionnaire of RRBs that can be used across the lifespan. The current study tested its psychometric properties with autistic adults without intellectual disability and supported its utility for both clinical diagnostic and research settings.


Assuntos
Psicometria , Autorrelato , Humanos , Adulto , Masculino , Feminino , Inquéritos e Questionários , Pessoa de Meia-Idade , Adulto Jovem , Reprodutibilidade dos Testes , Transtorno Autístico/diagnóstico , Transtorno Autístico/psicologia , Adolescente , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/psicologia
20.
Med Sci Monit ; 30: e944161, 2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38833427

RESUMO

Autism spectrum disorder (ASD) is a growing public health problem. American psychiatrist Leo Kanner is considered the "father of autism." ASD encompasses a range of neurodevelopmental disorders that last throughout life. Symptoms of ASD include impairments in social skills, including specific repetitive behaviors, as well as abnormal sensory responses. The clinical symptoms of ASD vary among patients. Their severity also differs, both in the area of social communication and cognitive functioning. The etiology of ASD is still unclear, although a role is attributed to both genetic and environmental factors. According to the World Health Organization, 1/100 children have ASD, but these estimates vary depending on the methodology used. Nevertheless, early detection of ASD and initiation of appropriate therapy may be essential in the continued functioning of patients and their families. The purpose of this article is to provide an overview of current knowledge about autism spectrum disorders. We discuss factors associated with autism and the prevalence of ASD in various parts of the world, and identify the most common diseases comorbid with ASD, pointing to limitations in the quality of life of patients with ASD and their families.


Assuntos
Transtorno do Espectro Autista , Saúde Pública , Humanos , Transtorno do Espectro Autista/epidemiologia , Prevalência , Criança , Qualidade de Vida , Comorbidade
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