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1.
Siglo cero (Madr.) ; 54(4): 65-83, oct.-dic. 2024.
Artículo en Español | IBECS | ID: ibc-229229

RESUMEN

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)


Asunto(s)
Humanos , Preescolar , Niño , Adolescente , Tecnología Educacional , Trastorno del Espectro Autista , Trastorno Autístico
2.
Siglo cero (Madr.) ; 54(4): 65-83, oct.-dic. 2024.
Artículo en Español | IBECS | ID: ibc-EMG-559

RESUMEN

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)


Asunto(s)
Humanos , Preescolar , Niño , Adolescente , Tecnología Educacional , Trastorno del Espectro Autista , Trastorno Autístico
3.
BMC Res Notes ; 17(1): 283, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39354582

RESUMEN

OBJECTIVE: Japan has a system of occupational therapy programs known as self-reliance training (training for daily living), which helps people with various disabilities lead more meaningful lives. Recently, it has been shown that green care farms are beneficial for dementia care and that agricultural and horticultural work has a positive impact on people with intellectual disabilities and mental disorders. This study examined the health-improving effects of farm activities and developed an attractive program for adolescents with developmental and intellectual disabilities who use independent training facilities. The program comprised agricultural and horticultural activities such as vegetable cultivation and management, flower planting, and flower arrangement. RESULTS: No significant differences were observed in any of the measures for positive mood before and after the usual program (UP). However, anger-hostility and depression-dejection improved significantly after the farm program (FP) (p < .05). Self-efficacy improved significantly after both UP and FP (p < .10). Free responses were obtained from UP (131 responses) and FP (126 responses) participants; thematic analysis of FP participants' statements revealed that positive comments included "confidence in accomplishing tasks," "anticipation and joy of growing plants," and "motivation for gardening activities."


Asunto(s)
Agricultura , Estudios de Factibilidad , Humanos , Masculino , Femenino , Adolescente , Agricultura/métodos , Agricultura/educación , Emociones/fisiología , Japón , Discapacidad Intelectual/psicología , Autoeficacia , Discapacidades del Desarrollo/psicología , Adulto Joven
4.
JNMA J Nepal Med Assoc ; 62(271): 207-210, 2024 Feb 29.
Artículo en Inglés | MEDLINE | ID: mdl-39356783

RESUMEN

INTRODUCTION: Autism Spectrum Disorder is a complex neurodevelopmental condition. Early identification of symptoms is crucial for timely intervention, yet diagnosing very young children can be challenging due to the variability in symptom presentation and the influence of other developmental factors. This study aimed to find the prevalence of the emergence of early behavioural signs in Nepalese children with Autism Spectrum Disorder. METHODS: A descriptive cross-sectional study was conducted at the Centre for Autism in Kathmandu, Nepal, from January 2023 to June 2023. Ethical approval was obtained, and a sample of 120 children diagnosed with Autism Spectrum Disorder was included in the study. Convenience sampling method was used. Point estimate at 95% Confidence Interval was calculated. RESULTS: Among 120 children with Autism Spectrum Disorder, the prevalence of emergence of early behavioural signs was seen in 112 (93.33%) (88.83-97.77, 95% Confidence Interval) children. CONCLUSIONS: This study provides insights into the emergence of early behavioural signs in Nepalese children with Autism Spectrum Disorder which align with global patterns in prevalence and severity.


Asunto(s)
Trastorno del Espectro Autista , Humanos , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/diagnóstico , Nepal/epidemiología , Estudios Transversales , Masculino , Femenino , Preescolar , Prevalencia , Niño , Lactante
5.
Case Rep Psychiatry ; 2024: 5535830, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39359715

RESUMEN

Kinesin family member 11 (KIF11)-associated disorder, a rare condition caused by autosomal dominant mutations in the KIF11 gene, presents with microcephaly, chorioretinal dysplasia, lymphoedema, and varying degrees of intellectual disability. While intellectual disability is often described in the literature on KIF11 mutations, autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are only mentioned by a few authors but not thoroughly investigated. We present a case report of an 8-year-old boy with KIF11-associated disorder alongside ADHD and ASD but without intellectual disability. Genetic testing confirmed a KIF11 mutation. Cognitive, language, and motor assessments revealed delays in fine motor skills and attention deficits. The diagnosis of ADHD was confirmed by a child neurologist through multidisciplinary investigations, while the ASD diagnosis was established by a child psychiatrist. Despite the challenges of delayed psychiatric assessment, interventions including physiotherapy and medication management were initiated with positive results. We designed a parent support group survey that showed a higher prevalence of neurodevelopmental disorders in children with KIF11 mutations compared to the general population. Therefore, low-threshold referrals to a child psychiatrist have to be made when the potential presence of developmental problems is suspected. Collaboration between ophthalmologists, paediatricians, and child psychiatrists is crucial for early detection and intervention. Addressing developmental disorders promptly improves long-term outcomes and enhances quality of life. Moreover, gaining a deeper understanding of the higher prevalence of ASD and ADHD in individuals with KIF11 mutations could offer valuable insights into the genetic mechanisms underlying neurodevelopmental disorders.

6.
J Autism Dev Disord ; 2024 Oct 03.
Artículo en Inglés | MEDLINE | ID: mdl-39361064

RESUMEN

The Child Sleep Hygiene Questionnaire (CSHQ) and its adapted version for autistic children, known as CSHQ-Autism, have gained recognition as essential tools for studying pediatric sleep patterns. 67 autistic children were evaluated using these questionnaires. 52 children screened positive on the CSHQ while 18 were screened positive on the CSHQ-Autism. Notably, both tools showed elevated ratings in the domains of sleep anxiety and co-sleeping, which may hinder their ability to accurately distinguish sleep disturbances. However, the prevalence of sleep anxiety/co-sleeping in Indian culture was found to be linked to more severe sleep disorders, while also serving as a protective factor against separation anxiety and sudden infant death syndrome (SIDS). Therefore, while the CSHQ and CSHQ-Autism serve as valuable assessment tools, their scores may be inflated by ingrained cultural norms in the Indian context.

7.
J Autism Dev Disord ; 2024 Oct 03.
Artículo en Inglés | MEDLINE | ID: mdl-39361065

RESUMEN

Recent theoretical accounts suggest that differences in the processing of probabilistic events underlie the core and associated traits of autism spectrum disorder (ASD). These theories hypothesize that autistic individuals are differentially impacted by disruptions in probabilistic input relative to neurotypical peers. According to this view, autistic individuals assign disproportionate weight to prediction errors such that novel input is overweighted relative to the aggregation of prior input; this is referred to as 'hyperplasticity' of learning. Prediction among autistic individuals has primarily been examined in nonverbal, visual contexts with older children and adults. The present study examined 32 autistic and 32 cognitively-matched neurotypical (NT) children's ability to generate predictions and adjust to changes in predictive relationships in auditory stimuli using two eye gaze tasks. In both studies, children were trained and tested on an auditory-visual cue which predicted the location of a reward stimulus. In Experiment 1 the cue was non-linguistic (instrumental sound) whereas in Experiment 2 the cue was linguistically-relevant (speaker gender). In both experiments, the cue-reward contingency was switched after the first block of trials, and predictive behavior was evaluated across a second block of trials. Results: Analyses of children's looking behavior revealed similar performance in both groups on the non-linguistic task (Exp. 1). In the linguistically-relevant task (Exp. 2), predictive looking was less disrupted by the contingency switch for autistic children than NT children. Results suggest that autistic children may demonstrate hyperplastic learning in linguistically-relevant contexts, relative to NT peers.

8.
Artículo en Inglés | MEDLINE | ID: mdl-39361099

RESUMEN

The utilization of biomarkers for the diagnosis and management of autism spectrum disorders (ASD) remains a relatively unexplored frontier in clinical practice. Proteomics and metabolomics are important tools for revealing key biomarkers and evaluating biological pathways in ASD. We conducted an individual meta-analysis to compare the consistency of biomarkers of ASD from central nervous system (brain and cerebrospinal fluid), circulatory system (blood), and non-invasive samples (urine, saliva, and faeces) and performed pathway enrichment analyses to identify pathways enriched in ASD. After screening 926 proteomics and 619 metabolomics articles, we collected data from 10 studies involving 940 differential proteins and 16 studies assessing a total of 748 differential metabolites. In brain tissue, blood, and urine of ASD cases and controls, flotillin-2 (FLOT2), apolipoprotein E (ApoE), and EH domain-containing protein 3 (EHD3) exhibit differential expression, while vinculin (VCL) displays variations in saliva, blood, and urine. Similarly, in case-control studies, gelsolin (GSN) shows differential expression in brain tissue, saliva, and urine, and malate dehydrogenase 2 (MDH2) in brain tissue, blood, and saliva. Hippuric acid and salicyluric acid were simultaneously found in the brain, blood, urine, and faeces. In terms of pathways, glycolysis/gluconeogenesis, carbon metabolism, and glutathione metabolism were enriched in the brain as well as in saliva or urine. In our study, we identified six shared protein and two metabolic markers in central nervous system, circulatory system, and non-invasive samples, underscoring their potential value for ASD diagnosis and management, warranting further research.

9.
Sports Med Open ; 10(1): 107, 2024 Oct 03.
Artículo en Inglés | MEDLINE | ID: mdl-39361117

RESUMEN

Autism, or autism spectrum disorders, is a neurodevelopmental condition characterized by limitations in social interaction, communication skills, and repetitive behaviors. Although motor disorders were previously considered marginal in autism, recent research has highlighted their significance. Numerous studies have underscored the positive impact of sports on autistic individuals. This article presents a comprehensive overview of the literature regarding the effects of sport interventions on autistic individuals and aims to extract general and practical recommendations. Initially, the article reviews the various characteristics of autism that are positively impacted by sports, ranging from psycho-social skills to motor behavior. Subsequently, it examines how different configurations of sports practice (individual/collective, indoor/outdoor, etc.) may be suitable for autistic individuals. Literature research was conducted in two databases, resulting in the inclusion of 92 articles meeting longitudinal criteria (i.e., containing full sport/physical activity programs with pre-to-post analyses) out of 1665 initially identified articles. The findings suggest that individuals with autism can benefit from sports across a wide range of physical, psychological, and social factors. Importantly, there is no full contraindication for any activity, although some may require specific step-by-step preparation. Each activity has the potential to provide benefits in specific areas, as discussed in the article. In conclusion, further research is needed to explore the most effective strategies for implementing sports programs and maximizing their benefits for individuals across the autism spectrum.

10.
Cureus ; 16(8): e68292, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39350805

RESUMEN

Background and objectives This study aimed to explore the frequency of gastrointestinal (GI) symptoms and associated risk factors among children with autism spectrum disorder (ASD). Methods This was a retrospective case-control study including children aged 2-14 years diagnosed with ASD by the Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 criteria and the assessment card in the ASD center at King Salman Armed Forces Hospital. Data were obtained using a self-developed questionnaire that included demographic features, nutritional and behavioral characteristics, and GI symptoms in the previous six months. The control group consisted of typically developing (TD) children matched to the ASD group for age and gender. Syndromic autism with defined somatic abnormalities and recognized genetic causes (e.g., fragile X syndrome, tuberous sclerosis) were excluded Results A total of 146 ASD children and 114 normal children were included. No significant demographic differences were found between the groups. The ASD group had a higher frequency of low income and a significantly lower rate of exclusive breastfeeding in the first six months. GI symptoms, specifically constipation, abdominal gases and distension, diarrhea, undigested food particles in stool, and mouth ulcers, were significantly more frequent in the ASD group. Weight abnormalities (both increase and decrease) were also more common. Family history of ASD was significantly more in ASD children with GI symptoms while low maternal education was more in those without. Conclusion This study reveals a high prevalence of GI symptoms in ASD children. Family history of ASD and maternal education may influence the GI symptoms reported in ASD children.

11.
World J Clin Pediatr ; 13(3): 98468, 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39350903

RESUMEN

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by heterogeneous symptoms and genetic underpinnings. Recent advancements in genetic and epigenetic research have provided insights into the intricate mechanisms contributing to ASD, influencing both diagnosis and therapeutic strategies. AIM: To explore the genetic architecture of ASD, elucidate mechanistic insights into genetic mutations, and examine gene-environment interactions. METHODS: A comprehensive systematic review was conducted, integrating findings from studies on genetic variations, epigenetic mechanisms (such as DNA methylation and histone modifications), and emerging technologies [including Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas9 and single-cell RNA sequencing]. Relevant articles were identified through systematic searches of databases such as PubMed and Google Scholar. RESULTS: Genetic studies have identified numerous risk genes and mutations associated with ASD, yet many cases remain unexplained by known factors, suggesting undiscovered genetic components. Mechanistic insights into how these genetic mutations impact neural development and brain connectivity are still evolving. Epigenetic modifications, particularly DNA methylation and non-coding RNAs, also play significant roles in ASD pathogenesis. Emerging technologies like CRISPR-Cas9 and advanced bioinformatics are advancing our understanding by enabling precise genetic editing and analysis of complex genomic data. CONCLUSION: Continued research into the genetic and epigenetic underpinnings of ASD is crucial for developing personalized and effective treatments. Collaborative efforts integrating multidisciplinary expertise and international collaborations are essential to address the complexity of ASD and translate genetic discoveries into clinical practice. Addressing unresolved questions and ethical considerations surrounding genetic research will pave the way for improved diagnostic tools and targeted therapies, ultimately enhancing outcomes for individuals affected by ASD.

12.
Front Digit Health ; 6: 1462682, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39351075

RESUMEN

Introduction: Challenging behaviour (CB) is a common issue among children with autism spectrum disorder or intellectual and developmental disability. Mental health applications are low-threshold cost-effective tools to address the lack of resources for caregivers. This pre-post study evaluated the feasibility and preliminary effectiveness of the smartphone app ProVIA-Kids using algorithm-based behaviour analysis to identify causes of CB and provide individualized practical guidance to manage and prevent CB. Methods: A total of 18 caregivers (M = 38.9 ± 5.0) of children with a diagnosis of autism spectrum disorder (44%), intellectual and developmental disabilities (33%) or both (22%) aged 4-11 years (M = 7.6 ± 1.8) were included. Assessments were performed before and after an 8-week intervention period. The primary outcome was the change in parental stress. Caregiver stress experience due to CB was also rated daily via ecological momentary assessments within the app. Secondary outcomes included the intensity of the child's CB, dysfunctional parenting, feelings of parental competency as well as caregivers' mood (rated daily in the app) and feedback on the app collected via the Mobile Application Rating Scale. Results: We observed increases in parental stress in terms of conscious feelings of incompetence. However, we also saw improvements in parental stress experience due to CB and overreactive parenting, and descriptive improvements in CB intensity and caregiver mood. Discussion: ProVIA-Kids pioneers behaviour analysis in a digital and automated format, with participants reporting high acceptance. Pilot results highlight the potential of the ProVIA-Kids app to positively influence child behaviour and caregiver mental health over a longer intervention period. Registration: The study was registered at https://www.drks.de (ID = DRKS00029039) on May 31, 2022.

13.
Cell Rep ; 43(10): 114797, 2024 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-39352808

RESUMEN

Human-specific genes are potential drivers of brain evolution. Among them, SRGAP2C has contributed to the emergence of features characterizing human cortical synapses, including their extended period of maturation. SRGAP2C inhibits its ancestral copy, the postsynaptic protein SRGAP2A, but the synaptic molecular pathways differentially regulated in humans by SRGAP2 proteins remain largely unknown. Here, we identify CTNND2, a protein implicated in severe intellectual disability (ID) in Cri-du-Chat syndrome, as a major partner of SRGAP2. We demonstrate that CTNND2 slows synaptic maturation and promotes neuronal integrity. During postnatal development, CTNND2 moderates neuronal excitation and excitability. In adults, it supports synapse maintenance. While CTNND2 deficiency is deleterious and results in synaptic loss of SYNGAP1, another major ID-associated protein, the human-specific protein SRGAP2C, enhances CTNND2 synaptic accumulation in human neurons. Our findings suggest that CTNND2 regulation by SRGAP2C contributes to synaptic neoteny in humans and link human-specific and ID genes at the synapse.

14.
Comput Biol Med ; 182: 109184, 2024 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-39353297

RESUMEN

PROBLEM: Diagnosing Autism Spectrum Disorder (ASD) remains a significant challenge, especially in regions where access to specialists is limited. Computer-based approaches offer a promising solution to make diagnosis more accessible. Eye tracking has emerged as a valuable technique in aiding the diagnosis of ASD. Typically, individuals' gaze patterns are monitored while they view videos designed according to established paradigms. In a previous study, we developed a method to classify individuals as having ASD or Typical Development (TD) by processing eye-tracking data using Random Forest ensembles, with a focus on a paradigm known as joint attention. AIM: This article aims to enhance our previous work by evaluating alternative algorithms and ensemble strategies, with a particular emphasis on the role of anticipation features in diagnosis. METHODS: Utilizing stimuli based on joint attention and the concept of "floating regions of interest" from our earlier research, we identified features that indicate gaze anticipation or delay. We then tested seven class balancing strategies, applied seven dimensionality reduction algorithms, and combined them with five different classifier induction algorithms. Finally, we employed the stacking technique to construct an ensemble model. RESULTS: Our findings showed a significant improvement, achieving an F1-score of 95.5%, compared to the 82% F1-score from our previous work, through the use of a heterogeneous stacking meta-classifier composed of diverse induction algorithms. CONCLUSION: While there remains an opportunity to explore new algorithms and features, the approach proposed in this article has the potential to be applied in clinical practice, contributing to increased accessibility to ASD diagnosis.

15.
S Afr J Commun Disord ; 71(1): e1-e8, 2024 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-39354795

RESUMEN

BACKGROUND:  Caregiver expectations have been shown to impact child outcomes. There is limited research regarding caregivers of non-verbal autistic children in rural South Africa. Autistic individuals form part of a larger environment, which they influence and which impacts them. Caregivers form part of this environment. OBJECTIVES:  This study aims to explore caregivers' expectations of communication, education, social implications and intervention for their non-verbal autistic child in rural KwaZulu-Natal (KZN). METHOD:  Bronfenbrenner's ecological and bioecological systems theory framed the study and allowed the child's interaction with their environment to be understood through the use of a qualitative study design via interviews. Eleven caregivers (pilot study: n = 1 and main study: n = 10) of non-verbal autistic children were selected and interviewed. Data were analysed thematically. RESULTS:  Caregivers had varied expectations. Grandparents were often the primary caregivers (microsystem). Relationships within the mesosystem (caregiver and therapist) and caregiver's understanding affected their feelings and expectations that changed over time (chronosystem). Education was the predominant expectation. The study highlighted limited resources (schools) within the exosystem. Caregivers reported both support and judgement from their communities. CONCLUSION:  There is a need for public awareness, caregiver counselling and autism support groups in rural KZN and more specialised education options in order to improve caregivers' expectations.Contribution: This study contributes to the limited literature in the field of autism in South Africa, more specifically the rural context and communication disorders.


Asunto(s)
Trastorno Autístico , Cuidadores , Población Rural , Humanos , Sudáfrica , Cuidadores/psicología , Masculino , Femenino , Niño , Trastorno Autístico/psicología , Investigación Cualitativa , Preescolar , Adulto , Comunicación no Verbal , Abuelos/psicología , Adolescente , Apoyo Social
16.
Curr Comput Aided Drug Des ; 20(7): 1087-1099, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39354858

RESUMEN

BACKGROUND: Recent epidemic survey data have revealed a globally increasing prevalence of autism spectrum disorders (ASDs). Currently, while Western medicine mostly uses a combination of comprehensive intervention and rehabilitative treatment, patient outcomes remain unsatisfactory. Polygala-Acorus, used as a pair drug, positively affects the brain and kidneys, and can improve intelligence, wisdom, and awareness; however, the underlying mechanism of action is unclear. OBJECTIVES: We performed network pharmacology analysis of the mechanism of Polygala-Acorus in treating ASD and its potential therapeutic effects to provide a scientific basis for the pharmaceutical's clinical application. METHODS: The chemical compositions and targets corresponding to Polygala-Acorus were obtained using the Traditional Chinese Medicine Systematic Pharmacology Database and Analysis Platform, Chemical Source Website, and PharmMapper database. Disease targets in ASD were screened using the DisGeNET, DrugBank, and GeneCards databases. Gene Ontology functional analysis and metabolic pathway analysis (Kyoto Encyclopedia of Genes and Genomes) were performed using the Metascape database and validated via molecular docking using AutoDock Vina and PyMOL software. RESULTS: Molecular docking analysis showed that the key active components of Polygala- Acorus interacted with the following key targets: EGFR, SRC, MAPK1, and ALB. Thus, the key active components of Polygala-Acorus (sibiricaxanthone A, sibiricaxanthone B tenuifolin, polygalic acid, cycloartenol, and 8-isopentenyl-kaempferol) have been found to bind to EGFR, SRC, MAPK1, and ALB. CONCLUSION: This study has preliminarily revealed the active ingredients and underlying mechanism of Polygala-Acorus in the treatment of ASD, and our predictions need to be proven by further experimentation.


Asunto(s)
Trastorno del Espectro Autista , Simulación del Acoplamiento Molecular , Farmacología en Red , Polygala , Trastorno del Espectro Autista/tratamiento farmacológico , Humanos , Polygala/química , Medicamentos Herbarios Chinos/farmacología , Medicamentos Herbarios Chinos/química , Medicina Tradicional China/métodos
17.
Autism Res ; 2024 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-39350488

RESUMEN

Atypical perception has been widely reported in autism spectrum disorders, and deficits in face recognition, specifically, are argued to be closely associated with social impairment experienced by these individuals. However, it is still debated (a) whether deficits are perceptually based, and (b) what the role is of experience-based refinements of perceptual face representations in autism. We investigated the effect of short- and long-term experienced stimulus history on face processing. Autistic and non-autistic individuals performed same-different judgments in a serial discrimination task where two consecutive faces were drawn from a distribution of morphed faces. Use of stimulus statistics was measured by testing the gravitation of face representations towards, the mean of a range of morphed faces around which they were sampled (regression-to-the-mean). The results show that unlike non-autistic individuals, representations of own- and other-race faces were equally biased by stimulus statistics in autistic individuals. Moreover, autistic individuals used the most recently exposed faces without forming a strong internal representation based on the overall experienced faces, indicating a weaker internal model of the "typical" averaged face. This accumulated history of faces may underlie typical face specialization, and thus may account for the reduced specialization for own-race faces shown in autism. The results shed light on the way autistic people process and recognize faces, and on the basic mechanisms underlying atypical face perception.

18.
Artículo en Inglés | MEDLINE | ID: mdl-39350682

RESUMEN

Patients with autism spectrum disorder (ASD) are often accompanied by inflammatory bowel disease (IBD) in observational research; however, the potential causal link between the two conditions remains unknown. In this study, we used a two-sample bidirectional Mendelian randomization (MR) approach to assess the causal relationship between ASD and IBD and its main subtypes, Crohn's disease (CD), and ulcerative colitis (UC). Independent genetic instruments from a genome-wide association study (GWAS) for IBD (25,042 cases and 34,915 controls) were used to investigate the association of IBD with ASD data obtained from the PGC and the iPSYCH consortia (N = 46,351). The primary analysis employed the random effects inverse variance weighting (IVW) method. Horizontal pleiotropy was detected using the MR Egger regression and the MR-pleiotropy residual sum and outlier (MR-PRESSO) analysis while heterogeneity was detected using Cochran's Q. The IVW method indicated a positive causal relationship of IBD with ASD (odds ratio (OR) = 1.028, 95% confidence interval (CI) = 1.001-1.056, p = 0.042). In subtype analyses, CD was positively related to ASD (OR = 1.036; 95% CI = 1.004-1.069; p = 0.02); however, UC showed no relationship (OR = 1.021; 95% CI = 0.999-1.044; p = 0.065). In contrast, no evidence of a causal relationship between ASD and IBD or its subtypes (p > 0.05) was found. Our findings provided evidence in support of potential causal associations between IBD/CD and ASD.

20.
Arch. argent. pediatr ; 122(5): e202310171, oct. 2024. tab
Artículo en Inglés, Español | LILACS, BINACIS | ID: biblio-1568649

RESUMEN

Introducción. El trastorno del espectro autista (TEA) se caracteriza por dificultades de comunicación social y comportamientos repetitivos y estereotipados. Además de la categoría diagnóstica, las actividades que los niños, niñas y adolescentes (NNyA) pueden realizar y la participación social son los aspectos principales por considerar desde el marco de la Clasificación Internacional del Funcionamiento, la Discapacidad y la Salud (CIF), propuesta por la Organización Mundial de la Salud, para describir los estados de salud. En una investigación previa, elaboramos la primera versión de una herramienta pediátrica basada en la CIF llamada TEA-CIFunciona para evaluación funcional de NNyA con diagnóstico de TEA, que permitió captar características funcionales adaptadas a nuestro contexto cultural. Se propuso como objetivo posterior aplicar TEA-CIFunciona en formato multicéntrico para evaluar NNyA de diferentes regiones, revisar y actualizar la herramienta, e identificar barreras y facilitadores. Población y métodos. Se administró TEA-CIFunciona versión 1.0 a NNyA con diagnóstico confirmado de TEA (según criterios del DSM-5), menores de 16 años, en seguimiento en cinco centros de atención pediátrica del país. Resultados. Se obtuvo la versión 2.0 de TEA-CIFunciona con 34 categorías (10 funciones corporales, 15 actividades y participación, y 9 factores ambientales). Se elaboró el perfil funcional de la muestra completa (n = 308). Conclusiones. La versión actualizada de TEA-CIFunciona contribuye a estandarizar y a sistematizar la obtención de información necesaria para adecuar el seguimiento de los NNyA con TEA a nivel nacional. Además, permite identificar barreras por superar y facilitadores para generalizar


Introduction. Autism spectrum disorder (ASD) is characterized by difficulties in social communication and repetitive and stereotyped behaviors. In addition to the diagnostic category, the activities performed by children and adolescents and their social involvement are the main aspects to be considered according to the International Classification of Functioning, Disability, and Health (ICF) proposed by the World Health Organization to describe health status. In a previous study, we developed the first version of a pediatric tool based on the ICF called ICF-ASD for the functional assessment of children and adolescents with ASD to capture functional characteristics adapted to our cultural setting. Our subsequent objective was to apply the ICF-ASD in a multicenter format to assess children and adolescents from different regions, review, and update it, and identify barriers and facilitators. Population and methods. The ICF-ASD version 1.0 was administered to children and adolescents younger than 16 years with a confirmed diagnosis of ASD (as per DSM-5 criteria), who were receiving follow-up at 5 children's health centers across Argentina. Results. Version 2.0 of the ICF-ASD was obtained, which included 34 categories (10 under body function, 15 under activities and participation, and 9 under environmental factors). A functional profile was developed for the whole sample (n = 308). Conclusions. The updated version of the ICF-ASD helps to standardize and systematize the collection of necessary data for an adequate follow-up of children and adolescents with ASD at a national level. It also allows to identify barriers to overcome and facilitators to be generalized


Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Adolescente , Trastorno del Espectro Autista/clasificación , Trastorno del Espectro Autista/diagnóstico , Argentina , Clasificación Internacional del Funcionamiento, de la Discapacidad y de la Salud , Estudios Transversales , Evaluación de la Discapacidad
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