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1.
Nutrients ; 13(6)2021 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-34198499

RESUMO

Autism Spectrum Disorder is a neurodevelopmental disorder. Recent data suggest that probiotics can reduce some symptoms of this disorder and Lactobacillus plantarum PS128 has been reported to be especially useful. We recruited a sample of 131 autistic children and adolescents (M:F = 122:19; age: 86.1 ± 41.1 months) and evaluated their changes after use of probiotics by mean of CGI. We found some significant improvements with very few side effects; these positive effects were more evident in younger children. Patients taking Lactobacillus plantarum PS128 had greater improvements and fewer side effects than those taking other probiotics. Our real-life data are consistent with existing literature showing a specific effect of Lactobacillus plantarum PS128 in Autism Spectrum Disorder.


Assuntos
Transtorno do Espectro Autista/dietoterapia , Lactobacillus plantarum , Probióticos/administração & dosagem , Adolescente , Criança , Feminino , Humanos , Masculino , Probióticos/efeitos adversos
2.
Nat Commun ; 12(1): 4284, 2021 07 13.
Artigo em Inglês | MEDLINE | ID: mdl-34257281

RESUMO

The translocase of the outer mitochondrial membrane TOM constitutes the organellar entry gate for nearly all precursor proteins synthesized on cytosolic ribosomes. Thus, TOM presents the ideal target to adjust the mitochondrial proteome upon changing cellular demands. Here, we identify that the import receptor TOM70 is targeted by the kinase DYRK1A and that this modification plays a critical role in the activation of the carrier import pathway. Phosphorylation of TOM70Ser91 by DYRK1A stimulates interaction of TOM70 with the core TOM translocase. This enables transfer of receptor-bound precursors to the translocation pore and initiates their import. Consequently, loss of TOM70Ser91 phosphorylation results in a strong decrease in import capacity of metabolite carriers. Inhibition of DYRK1A impairs mitochondrial structure and function and elicits a protective transcriptional response to maintain a functional import machinery. The DYRK1A-TOM70 axis will enable insights into disease mechanisms caused by dysfunctional DYRK1A, including autism spectrum disorder, microcephaly and Down syndrome.


Assuntos
Transtorno do Espectro Autista/metabolismo , Mitocôndrias/metabolismo , Proteínas de Transporte da Membrana Mitocondrial/metabolismo , Proteínas Serina-Treonina Quinases/metabolismo , Proteínas Tirosina Quinases/metabolismo , Transtorno do Espectro Autista/genética , Citosol/metabolismo , Síndrome de Down/genética , Síndrome de Down/metabolismo , Humanos , Microcefalia/genética , Microcefalia/metabolismo , Mitocôndrias/genética , Proteínas de Transporte da Membrana Mitocondrial/genética , Fosforilação , Proteínas Serina-Treonina Quinases/genética , Proteínas Tirosina Quinases/genética
3.
Sensors (Basel) ; 21(13)2021 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-34283166

RESUMO

A significant therapeutic challenge for people with disabilities is the development of verbal and echoic skills. Digital voice assistants (DVAs), such as Amazon's Alexa, provide networked intelligence to billions of Internet-of-Things devices and have the potential to offer opportunities to people, such as those diagnosed with autism spectrum disorder (ASD), to advance these necessary skills. Voice interfaces can enable children with ASD to practice such skills at home; however, it remains unclear whether DVAs can be as proficient as therapists in recognizing utterances by a developing speaker. We developed an Alexa-based skill called ASPECT to measure how well the DVA identified verbalization by autistic children. The participants, nine children diagnosed with ASD, each participated in 30 sessions focused on increasing vocalizations and echoic responses. Children interacted with ASPECT prompted by instructions from an Echo device. ASPECT was trained to recognize utterances and evaluate them as a therapist would-simultaneously, a therapist scored the child's responses. The study identified no significant difference between how ASPECT and the therapists scored participants; this conclusion held even when subsetting participants by a pre-treatment echoic skill assessment score. This indicates considerable potential for providing a continuum of therapeutic opportunities and reinforcement outside of clinical settings.


Assuntos
Transtorno do Espectro Autista , Voz , Transtorno do Espectro Autista/diagnóstico , Criança , Humanos , Internet
4.
Artigo em Russo | MEDLINE | ID: mdl-34283524

RESUMO

OBJECTIVE: To develop clinical and social models and management routes for patients with autism spectrum disorders (ASD). MATERIAL AND METHODS: A clinical follow-up study was performed for 254 patients, aged 4-17 years (average age 7.3 years), who represented the main forms of ASD. Psychopathological, clinical-follow-up, psychological and statistical methods were used. RESULTS AND CONCLUSION: Five management models for patients with different forms of ASD are described; differentiation of routes for interagency monitoring of patients is proposed. The effectiveness of the integrated use of drug and non-drug therapeutic approaches for the management of patients with ASD in the clinical-age aspect is shown. Timely diagnosis of ASD makes it possible to develop differentiated routes of patient management within the framework of interdepartmental interaction and achieve positive results in the clinical and age aspect.


Assuntos
Transtorno do Espectro Autista , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/terapia , Criança , Seguimentos , Humanos
5.
Nutrients ; 13(6)2021 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-34205336

RESUMO

Emerging evidence indicates that gut microbiota is important in the regulation of brain activity and cognitive functions. Microbes mediate communication among the metabolic, peripheral immune, and central nervous systems via the microbiota-gut-brain axis. However, it is not well understood how the gut microbiome and neurons in the brain mutually interact or how these interactions affect normal brain functioning and cognition. We summarize the mechanisms whereby the gut microbiota regulate the production, transportation, and functioning of neurotransmitters. We also discuss how microbiome dysbiosis affects cognitive function, especially in neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease.


Assuntos
Cognição/fisiologia , Microbioma Gastrointestinal/fisiologia , Doenças Neurodegenerativas/microbiologia , Neurotransmissores/fisiologia , Doença de Alzheimer/microbiologia , Animais , Ansiedade/microbiologia , Transtorno do Espectro Autista/microbiologia , Encéfalo/fisiopatologia , Depressão/microbiologia , Disbiose/fisiopatologia , Humanos , Doença de Parkinson/microbiologia , Esquizofrenia/microbiologia
6.
Trends Cogn Sci ; 25(8): 685-696, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34226128

RESUMO

Challenges in social cognition and communication are core characteristics of autism spectrum disorder (ASD), but in some domains, individuals with ASD may display typical abilities and even outperform their neurotypical counterparts. These enhanced abilities are notable in the domains of reasoning, judgment and decision-making, in which individuals with ASD often show 'enhanced rationality' by exhibiting more rational and bias-free decision-making than do neurotypical individuals. We review evidence for enhanced rationality in ASD, how it relates to theoretical frameworks of information processing in ASD, its implications for basic research about human irrationality, and what it may mean for the ASD community.


Assuntos
Transtorno do Espectro Autista , Cognição , Comunicação , Humanos , Julgamento
8.
Sensors (Basel) ; 21(13)2021 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-34201991

RESUMO

Individuals with Autism Spectrum Disorder (ASD) typically present difficulties in engaging and interacting with their peers. Thus, researchers have been developing different technological solutions as support tools for children with ASD. Social robots, one example of these technological solutions, are often unaware of their game partners, preventing the automatic adaptation of their behavior to the user. Information that can be used to enrich this interaction and, consequently, adapt the system behavior is the recognition of different actions of the user by using RGB cameras or/and depth sensors. The present work proposes a method to automatically detect in real-time typical and stereotypical actions of children with ASD by using the Intel RealSense and the Nuitrack SDK to detect and extract the user joint coordinates. The pipeline starts by mapping the temporal and spatial joints dynamics onto a color image-based representation. Usually, the position of the joints in the final image is clustered into groups. In order to verify if the sequence of the joints in the final image representation can influence the model's performance, two main experiments were conducted where in the first, the order of the grouped joints in the sequence was changed, and in the second, the joints were randomly ordered. In each experiment, statistical methods were used in the analysis. Based on the experiments conducted, it was found statistically significant differences concerning the joints sequence in the image, indicating that the order of the joints might impact the model's performance. The final model, a Convolutional Neural Network (CNN), trained on the different actions (typical and stereotypical), was used to classify the different patterns of behavior, achieving a mean accuracy of 92.4% ± 0.0% on the test data. The entire pipeline ran on average at 31 FPS.


Assuntos
Transtorno do Espectro Autista , Criança , Humanos , Redes Neurais de Computação , Reconhecimento Psicológico , Esqueleto
9.
Curr Opin Pediatr ; 33(4): 464-470, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34226426

RESUMO

PURPOSE OF REVIEW: Approximately one in four children with autism spectrum disorder (ASD) 'elope' or wander away from supervision each year; however, many caregivers do not receive adequate information on how to address wandering behavior. The purpose of this review is to summarize the available research on elopement frequency, wandering patterns, and interventions to provide pediatricians and other childcare professionals with appropriate strategies to address wandering behavior. RECENT FINDINGS: Despite the high prevalence of wandering by children with ASD or other developmental disabilities, there is relatively limited research in this area. Recent research has identified common patterns and factors associated with risk of elopement and elopement frequency. SUMMARY: Pediatricians should counsel families on the common issues and intervention strategies related to elopement. By increasing awareness of wandering in children with ASD, caregivers can feel better prepared to make informed decisions regarding their child's wellbeing and safety.


Assuntos
Transtorno do Espectro Autista , Comportamento Errante , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/terapia , Cuidadores , Criança , Deficiências do Desenvolvimento/epidemiologia , Humanos , Pediatras
10.
Microbiome ; 9(1): 157, 2021 07 08.
Artigo em Inglês | MEDLINE | ID: mdl-34238386

RESUMO

BACKGROUND: Autism spectrum disorders (ASD) are associated with dysregulation of the microbiota-gut-brain axis, changes in microbiota composition as well as in the fecal, serum, and urine levels of microbial metabolites. Yet a causal relationship between dysregulation of the microbiota-gut-brain axis and ASD remains to be demonstrated. Here, we hypothesized that the microbial metabolite p-Cresol, which is more abundant in ASD patients compared to neurotypical individuals, could induce ASD-like behavior in mice. RESULTS: Mice exposed to p-Cresol for 4 weeks in drinking water presented social behavior deficits, stereotypies, and perseverative behaviors, but no changes in anxiety, locomotion, or cognition. Abnormal social behavior induced by p-Cresol was associated with decreased activity of central dopamine neurons involved in the social reward circuit. Further, p-Cresol induced changes in microbiota composition and social behavior deficits could be transferred from p-Cresol-treated mice to control mice by fecal microbiota transplantation (FMT). We also showed that mice transplanted with the microbiota of p-Cresol-treated mice exhibited increased fecal p-Cresol excretion, compared to mice transplanted with the microbiota of control mice. In addition, we identified possible p-Cresol bacterial producers. Lastly, the microbiota of control mice rescued social interactions, dopamine neurons excitability, and fecal p-Cresol levels when transplanted to p-Cresol-treated mice. CONCLUSIONS: The microbial metabolite p-Cresol induces selectively ASD core behavioral symptoms in mice. Social behavior deficits induced by p-Cresol are dependant on changes in microbiota composition. Our study paves the way for therapeutic interventions targeting the microbiota and p-Cresol production to treat patients with ASD. Video abstract.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Microbioma Gastrointestinal , Animais , Transtorno Autístico/etiologia , Cresóis , Transplante de Microbiota Fecal , Humanos , Camundongos
11.
Int J Mol Sci ; 22(12)2021 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-34207213

RESUMO

Autism spectrum disorder (ASD) is a multifaced neurodevelopmental disorder that becomes apparent during early childhood development. The complexity of ASD makes clinically diagnosing the condition difficult. Consequently, by identifying the biomarkers associated with ASD severity and combining them with clinical diagnosis, one may better factionalize within the spectrum and devise more targeted therapeutic strategies. Currently, there are no reliable biomarkers that can be used for precise ASD diagnosis. Consequently, our pilot experimental cohort was subdivided into three groups: healthy controls, individuals those that express severe symptoms of ASD, and individuals that exhibit mild symptoms of ASD. Using next-generation sequencing, we were able to identify several circulating non-coding RNAs (cir-ncRNAs) in plasma. To the best of our knowledge, this study is the first to show that miRNAs, piRNAs, snoRNAs, Y-RNAs, tRNAs, and lncRNAs are stably expressed in plasma. Our data identify cir-ncRNAs that are specific to ASD. Furthermore, several of the identified cir-ncRNAs were explicitly associated with either the severe or mild groups. Hence, our findings suggest that cir-ncRNAs have the potential to be utilized as objective diagnostic biomarkers and clinical targets.


Assuntos
Transtorno do Espectro Autista/sangue , Ácidos Nucleicos Livres/sangue , RNA Longo não Codificante/sangue , Pequeno RNA não Traduzido/sangue , Adolescente , Transtorno do Espectro Autista/diagnóstico , Biomarcadores/sangue , Criança , Pré-Escolar , Feminino , Humanos , Masculino
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(7): 620-625, 2021 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-34247363

RESUMO

OBJECTIVE: To analyze the pathogenic variants of the KIF1A gene and its corresponding protein structure in an autism spectrum disorder (ASD) family trio carrying harmful missense variants in the KIF1A gene. METHODS: The peripheral blood DNA of the patient and his parents was extracted and sequenced using whole exome sequencing (WES) technology and verified by Sanger sequencing. Bioinformatics software SIFT, PolyPhen-2, Mutation Taster, and CADD software were used to analyze the harmfulness and conservation of variants. The Human Brain Transcriptome (HBT) database was used to analyze the expression of the KIF1A gene in the brain. PredictProtein and SWISS-MODEL were further used to predict the secondary structure and tertiary structure of KIF1A wild-type protein and variant protein. PyMOL V2.4 was utilized to investigate the change of hydrogen bond connection after protein variant. RESULTS: The WES sequencing revealed a missense variant c.664A>C (p.Asn222His) in the child's KIF1A gene, and this variant was a de novo variant. The harmfulness prediction results suggest that this variant is harmful. By analyzing expression level of KIF1A gene in the brain. It is found that KIF1A gene widely expressed in various brain regions during embryonic development. By analyzing the variant protein structure, the missense variant of KIF1A will cause many changes in the secondary structure of protein, such as alpha-helix, beta-strand, and protein binding domain. The connection of hydrogen bond and spatial structure will also change, thereby changing the original biological function. CONCLUSION: The KIF1A gene may be a risk gene for ASD.


Assuntos
Transtorno do Espectro Autista , Transtorno do Espectro Autista/genética , Criança , Feminino , Humanos , Cinesina/genética , Mutação , Mutação de Sentido Incorreto , Gravidez , Domínios Proteicos , Sequenciamento Completo do Exoma
13.
J Clin Neurosci ; 90: 351-358, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34275574

RESUMO

Autism spectrum disorder (ASD) is a very serious neurodevelopmental disorder and diagnosis mainly depends on the clinical scale, which has a certain degree of subjectivity. It is necessary to make accurate evaluation by objective indicators. In this study, we enrolled 96 children aged from 3 to 6 years: 48 low-function autistic children (38 males and 10 females; mean±SD age: 4.9±1.1 years) and 48 typically developing (TD) children (38 males and 10 females; mean±SD age: 4.9 ± 1.2 years) to participate in our experiment. We investigated to fuse multi-features (entropy, relative power, coherence and bicoherence) to distinguish low-function autistic children and TD children accurately. Minimum redundancy maximum correlation algorithm was used to choose the features and support vector machine was used for classification. Ten-fold cross validation was used to test the accuracy of the model. Better classification result was obtained. We tried to provide a reliable basis for clinical evaluation and diagnosis for ASD.


Assuntos
Transtorno Autístico/classificação , Transtorno Autístico/diagnóstico , Eletroencefalografia/métodos , Algoritmos , Transtorno do Espectro Autista/classificação , Transtorno do Espectro Autista/diagnóstico por imagem , Criança , Pré-Escolar , Entropia , Feminino , Humanos , Masculino , Valores de Referência , Máquina de Vetores de Suporte
14.
Sci Rep ; 11(1): 14448, 2021 07 14.
Artigo em Inglês | MEDLINE | ID: mdl-34262075

RESUMO

Faces hold a substantial value for effective social interactions and sharing. Covering faces with masks, due to COVID-19 regulations, may lead to difficulties in using social signals, in particular, in individuals with neurodevelopmental conditions. Daily-life social participation of individuals who were born preterm is of immense importance for their quality of life. Here we examined face tuning in individuals (aged 12.79 ± 1.89 years) who were born preterm and exhibited signs of periventricular leukomalacia (PVL), a dominant form of brain injury in preterm birth survivors. For assessing the face sensitivity in this population, we implemented a recently developed experimental tool, a set of Face-n-Food images bordering on the style of Giuseppe Arcimboldo. The key benefit of these images is that single components do not trigger face processing. Although a coarse face schema is thought to be hardwired in the brain, former preterms exhibit substantial shortages in the face tuning not only compared with typically developing controls but also with individuals with autistic spectrum disorders. The lack of correlations between the face sensitivity and other cognitive abilities indicates that these deficits are domain-specific. This underscores impact of preterm birth sequelae for social functioning at large. Comparison of the findings with data in individuals with other neurodevelopmental and neuropsychiatric conditions provides novel insights into the origins of deficient face processing.


Assuntos
Encéfalo/fisiologia , Reconhecimento Facial , Reconhecimento Visual de Modelos , Nascimento Prematuro , Cognição Social , Adolescente , Transtorno do Espectro Autista , COVID-19 , Criança , Cognição , Neurociência Cognitiva , Expressão Facial , Feminino , Humanos , Leucomalácia Periventricular , Gravidez , Qualidade de Vida , Reconhecimento Psicológico/fisiologia , Fatores Sexuais , Comportamento Social , Percepção Visual/fisiologia
15.
Nutrients ; 13(7)2021 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-34202394

RESUMO

Parents are important agents in shaping children's eating habits. However, the associations between children's and parents' eating behaviors are complex and may be convoluted for various reasons, such as parenting feeding styles, stressful mealtimes, and children's neurodevelopmental disorders (ND), such as Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD). The purpose of this study was to analyze associations between parents and their children's fussy eating, in a cross-sectional sample of children, with and without ND. Ninety-seven parents answered screening questionnaires prior to an intervention study. Associations were investigated using two-way ANOVAs and chi-square analyses. Overall, children with ND accepted fewer food items and consumed unhealthier foods more frequently than children without ND. Fussy eating parents had children who accepted fewer food items and consumed unhealthier foods more frequently than children whose parents were not fussy eaters. Interaction effects were not significant. A higher proportion of fussy eating parents, than non-fussy eating parents, had children who had difficulties with combined foods and hidden ingredients. The findings highlight the need for further investigation into the relationships between parents' influence on their children's eating behavior and food consumption, as well as possible reciprocal impacts.


Assuntos
Comportamento Infantil/psicologia , Seletividade Alimentar , Transtornos do Neurodesenvolvimento/psicologia , Poder Familiar/psicologia , Pais/psicologia , Adulto , Análise de Variância , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtorno do Espectro Autista/psicologia , Distribuição de Qui-Quadrado , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Relações Pais-Filho , Inquéritos e Questionários
16.
Sensors (Basel) ; 21(14)2021 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-34300402

RESUMO

In this work, we propose a Bluetooth low energy (BLE) beacon-based algorithm to enable remote measurement of the social behavior of the participants of an observational Autism Spectrum Disorder (ASD) clinical trial (NCT03611075). We have developed a mobile application for a smartphone and a smartwatch to collect beacon signals from BLE beacon sensors as well as to store information about the participants' household rooms. Our goal is to collect beacon information about the time the participants spent in different rooms of their household to infer sociability information. We applied the same technology and setup in an internal experiment with healthy volunteers to evaluate the accuracy of the proposed algorithm in 10 different home setups, and we observed an average accuracy of 97.2%. Moreover, we show that it is feasible for the clinical study participants/caregivers to set up the BLE beacon sensors in their homes without any technical help, with 96% of them setting up the technology on the first day of data collection. Next, we present results from one-week location data from study participants collected through the proposed technology. Finally, we provide a list of good practice guidelines for optimally applying beacon technology for indoor location monitoring. The proposed algorithm enables us to estimate time spent in different rooms of a household that can pave the development of objective sociability features and eventually support decisions regarding drug efficacy in ASD.


Assuntos
Transtorno do Espectro Autista , Aplicativos Móveis , Transtorno do Espectro Autista/diagnóstico , Estudos de Viabilidade , Humanos , Smartphone , Comportamento Social
17.
Nutrients ; 13(6)2021 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-34208488

RESUMO

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with increasing incidence. An expanding body of literature is examining connections between ASD and dietary interventions. Existing reports suggest a beneficial effect of ketogenic dietary therapies (KDTs) in improving behavioral symptoms in ASD. In this context, the purpose of this scoping review was to identify and map available evidence in the literature about the feasibility and potential efficacy of KDTs in pediatric patients with ASD and to inform clinical practice in the field. Moreover, based on the resulting data from the literature review, we aimed to provide a shared protocol to develop a personalized KDT intervention in patients with ASD. A comprehensive and structured web-based literature search was performed using PubMed and Scopus and it yielded 203 records. Seven papers were finally selected and included in the review. Data were abstracted by independent coders. High variability was identified in study designs and dietary aspects emerged among selected studies. Results supported the effectiveness of KDTs in promoting behavioral improvements. Clinical recommendations on which patients may benefit most from KDTs implementation and difficulties in dietary adherence were discussed.


Assuntos
Transtorno do Espectro Autista/dietoterapia , Dieta Cetogênica , Dieta Cetogênica/métodos , Humanos , Resultado do Tratamento
20.
Handb Clin Neurol ; 182: 121-140, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34266588

RESUMO

Oxytocin and vasopressin systems have been studied separately in autism spectrum disorder (ASD). Here, we provide evidence from an evolutionary and neuroscience perspective about the shared mechanisms and the common roles in regulating social behaviors. We first discuss findings on the evolutionary history of oxytocin and vasopressin ligands and receptors that highlight their common origin and clarify the evolutionary background of the crosstalk between them. Second, we conducted a comprehensive review of the increasing evidence for the role of both neuropeptides in regulating social behaviors. Third, we reviewed the growing evidence on the associations between the oxytocin/vasopressin systems and ASD, which includes oxytocin and vasopressin dysfunction in animal models of autism and in human patients, and the impact of treatments targeting the oxytocin or the vasopressin systems in children and in adults. Here, we highlight the potential of targeting the oxytocin/vasopressin systems to improve social deficits observed in ASD and the need for further investigations on how to transfer these research innovations into clinical applications.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Animais , Humanos , Ocitocina , Comportamento Social , Vasopressinas
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