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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
3.
Telemed Rep ; 5(1): 67-77, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38558955

RESUMO

Aims: We compared the efficacy, fidelity, acceptability, and feasibility of a creative movement (CM) intervention for children with autism spectrum disorder (ASD), delivered face-to-face (F2F) or through telehealth (TH). Methods: Fifteen children with ASD received the CM intervention F2F or through TH. Motor assessments were used to evaluate effects of F2F and TH interventions on children's motor skills, while video coding was used to assess affect, socially directed verbalization, interpersonal synchrony, and motor coordination during training. Stakeholder feedback and training fidelity data on the intervention were also collected. Results: Children in both subgroups showed similar baseline performance and training-related improvements in motor skills, positive/interested affect, socially directed verbalization, interpersonal synchrony, and dual/multilimb coordination. Parents in the TH subgroup considered the intervention feasible and acceptable; however, they reported greater effort to supervise and redirect their child's attention compared to the F2F subgroup. Trainers for the TH subgroup reported more communication difficulties, technological issues, and longer session lengths, but found greater parental involvement compared to the F2F subgroup. Conclusions: CM interventions are consistent, acceptable, feasible, and effective in improving social, behavioral-affective, and motor skills of children with ASD, regardless of the method of delivery. Clinicians should make efforts to reduce communication/technological issues and parental burden when delivering CM interventions through TH. ClinicalTrials.Gov Study ID-NCT04258254.

4.
Health Sci Rep ; 7(4): e2005, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38559412

RESUMO

Background and Aims: Autism spectrum disorder (ASD) is a neurodevelopmental condition that impacts the brain, characterized by challenges in social communication and interaction, often accompanied by repetitive behaviors or focused interests. This study sheds light on the prevalence of ASD within the Southeast Asian region. Methods: The study protocol was registered in PROSPERO (Registration No: CRD42023413915). Appropriate search terms and Boolean operators were employed to explore electronic databases for relevant articles. Data thus extracted were prepared in Excel and analyzed in Comprehensive Meta-Analysis Software. The effect measure utilized in the study was represented by the proportion, and the choice between a fixed or random-effect model depended on the observed heterogeneity. Visual feedback was provided through the use of forest plots and funnel plots. Results: A total of 14 studies were included in the qualitative and quantitative synthesis after screening the imported studies. The prevalence of ASD was six per 1000 population (proportion: 0.006; CI: 0.002-0.017; I 2: 99.263%). Among the ASD cases, 64.4% (proportion: 0.644; CI: 0.590-0.693; I 2: 9.937%) were males and 35.6% (proportion: 0.356; CI: 0.307-0.410; I 2: 9.937%) were females. Conclusion: The prevalence of ASD in Southeast Asia was estimated to be six cases per 1000 individuals, with a higher prevalence among males. This study contributes to our understanding of ASD prevalence in the region, although it is essential to note certain limitations in estimating prevalence.

5.
ArXiv ; 2024 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-38560734

RESUMO

Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a wide range of behavioral and cognitive impairments. While genetic and environmental factors are known to contribute to its etiology, the underlying metabolic perturbations associated with ASD which can potentially connect genetic and environmental factors, remain poorly understood. Therefore, we conducted a metabolomic case-control study and performed a comprehensive analysis to identify significant alterations in metabolite profiles between children with ASD and typically developing (TD) controls. Objective: To elucidate potential metabolomic signatures associated with ASD in children and identify specific metabolites that may serve as biomarkers for the disorder. Methods: We conducted metabolomic profiling on plasma samples from participants in the second phase of Epidemiological Research on Autism in Jamaica (ERAJ-2), which was a 1:1 age (±6 months)-and sex-matched cohort of 200 children with ASD and 200 TD controls (2-8 years old). Using high-throughput liquid chromatography-mass spectrometry techniques, we performed a targeted metabolite analysis, encompassing amino acids, lipids, carbohydrates, and other key metabolic compounds. After quality control and imputation of missing values, we performed univariable and multivariable analysis using normalized metabolites while adjusting for covariates, age, sex, socioeconomic status, and child's parish of birth. Results: Our findings revealed unique metabolic patterns in children with ASD for four metabolites compared to TD controls. Notably, three of these metabolites were fatty acids, including myristoleic acid, eicosatetraenoic acid, and octadecenoic acid. Additionally, the amino acid sarcosine exhibited a significant association with ASD. Conclusions: These findings highlight the role of metabolites in the etiology of ASD and suggest opportunities for the development of targeted interventions.

6.
Front Pediatr ; 12: 1372980, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38562136

RESUMO

Objective: The acquisition of fine motor skills is considered to be a crucial developmental milestone throughout early childhood. This study aimed to investigate the fine motor performance of young children with different disability diagnoses. Methods: We enrolled a sample of 1,897 young children under the age of 6 years who were at risk of developmental delays and were identified by a transdisciplinary team. A series of standardized developmental assessments included the Bayley Scales of Infant Development-Third Edition, Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition, Peabody Developmental Motor Scale-Second Edition, and Movement Assessment Battery for Children-Second Edition were used. Retrospective chart reviews were conducted on all children to identify specific developmental disorders. The number of autism spectrum disorder (ASD), intellectual disability (ID), attention-deficit/hyperactivity disorder (ADHD), comorbidity, motor dysfunction, and unspecified developmental delays (DD) were 363 (19.1%), 223 (11.8%), 234 (12.3%), 285 (15.0%), 128 (6.7%), and 590 (31.1%), respectively. Results: Young children with ID, comorbidity, and motor dysfunction demonstrated significant difficulty in performing manual dexterity and visual motor integration tasks and scored significantly lower in these areas than children with ASD, ADHD, and unspecified DD. In addition, fine motor performance was associated with cognitive ability in children with different disability diagnoses, indicating that young children showed better fine motor performance when they demonstrated better cognitive ability. Conclusion: Our findings support that differences in fine motor performance differ by disability type. Close links between fine motor performance and cognitive ability in children under the age of 6 years were seen in all disability types.

7.
Front Behav Neurosci ; 18: 1357453, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38562516

RESUMO

Introduction: Autism spectrum disorder (ASD) is a neurological condition that is marked by deficits in social interaction, difficulty expressing oneself, lack of enthusiasm, and stereotypical conduct. The TOMATIS training method is an effective music therapy for children with ASD for its individually developed programs to improve behavioral deficits. Methods: The research employed both longitudinal and crosssectional designs. Results: In the cross-sectional study, the experimental group showed significant improvement in symptoms after TOMATIS training compared to the control group of children with ASD. The results validated the effect of TOMATIS treatment for ASD-related deficits, including perceptual-motor, attentional, social, and emotional issues. Discussion: ASD's auditory hypersensitivity hampers social information processing, but TOMATIS enhances cochlear frequency selectivity, aiding in capturing relevant auditory stimuli. In addition, the longitudinal study confirmed these findings, which proved TOMATIS training effective in clinically treating ASD. This study focused on audiometric indicators and behavioural improvement, elucidating the mechanisms behind the training's success. Behavioral improvements might stem from TOMATIS' frequency selectivity, reshaping auditory organ-cortical feedback loops to filter interference and focus on valid information.

8.
J Autism Dev Disord ; 2024 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-38565777

RESUMO

The COVID-19 pandemic and the subsequent social distancing policies forced healthcare teams to drastically alter the way they deliver services. This was particularly challenging for clinicians involved in diagnosing autism spectrum disorder (ASD), as assessment tools and methods required face-to-face social interactions between clinicians and children. To address this, the Brief Observation of Symptoms of Autism (BOSA) was developed to ensure that people suspected of ASD can receive diagnostic assessments during the pandemic. This project aimed to explore clinicians' opinions on the BOSA, particularly regarding the usefulness of the assessment for clinicians to clarify diagnostic outcomes of ASD assessments. Both quantitative and qualitative data was gathered within an NHS community paediatric team. This included a questionnaire for clinicians to complete, and data from the BOSA assessments done in the service. Thematic analysis and descriptive statistics revealed that many clinicians felt that the BOSA can be beneficial in certain cases, such as selective mutism, and found the BOSA particularly helpful for observing parent-child interactions. These findings highlighted important information that the Autism Diagnostic Observation Schedule Second Edition (ADOS-2) does not give opportunities to observe. Clinicians reported that at times, the BOSA materials, brevity and parental administration created barriers to gathering information for diagnostic decisions. As may be expected, clinicians showed a clear preference for the more familiar and validated ADOS-2. However, the study highlights perceived limitations of the ADOS-2 and strengths of the BOSA, with recommendations made for future practice and research.

9.
J Autism Dev Disord ; 2024 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-38565778

RESUMO

PURPOSE: The current study aims to investigate the effectiveness of sensory-motor integration exercises on social skills and motor performance in children with autism spectrum disorder (ASD). METHODS: This is a quasi-experimental study with a pre-test-post-test design and with a control group. The statistical population of this research included all children with ASD aged 9-11 years old in Babolsar city in 2022, among whom 30 were selected through convenient sampling from the transplant center of Babolsar, and were randomly assigned into two experimental and control groups. Then, the experimental group received the treatment program in 12 sessions. The data collection instrument included Gresham and Elliott's social skills questionnaire (Gresham FM, Elliott SN (1993) Social skills intervention guide: systematic approaches to social skills training. Spec Serv Sch 8(1):137-158) and Ulrich's motor performance test (Ulrich B, Ulrich D (1985) The role of balancing ability in performance of fundamental motor skills in 3-, 4-, and 5-year-old children. Motor Dev: Curr Select Res 1:87-97). Data analysis was conducted using covariance analysis in SPSS21. RESULTS: The multivariate covariance analysis test showed that there is a significant difference between the experimental and control groups in the variable of social skills and motor performance, respectively (P < 0.001). CONCLUSION: According to the research findings, it can be concluded that sensory-motor integration exercises can be used as an appropriate intervention in promoting and improving social skills and motor performance of children with autism spectrum. Results of this study can be helpful for therapists and educators who deal with autistic children.

10.
Artigo em Inglês | MEDLINE | ID: mdl-38568167

RESUMO

BACKGROUND: The ability to understand the mental state of others (social cognition), as well as language, is crucial for children to have good social adaptation. Social cognition (SC) has been shown to be a hierarchical model of three factors (Cognitive, intermediate and affective SC) interrelated with linguistic processes. Children on the autism spectrum and children with developmental language disorder (DLD) or social communication disorder (SCD) manifest language and SC difficulties, albeit in different ways. AIMS: This systematic review aims to find how language and SC interact with each other and identify linguistic and socio-affective profiles in the target population. METHODS: About 1593 articles were systematically reviewed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guide in November 2022, obtaining, through inclusion/exclusion criteria, a total of 38 articles for qualitative assessment. The majority of them were on autism (26) or DLD (14) and to a lesser extent SCD (3). MAIN CONTRIBUTION: Although SC is related to all components of language, SC is strongly related to narrative and morphosyntax and partially related to lexicon. Pragmatics shows a complex relation with SC due to greater sensitivity to other factors such as age or task, and prosody appears to be more related to emotional processes. Besides, autistic, SCD and DLD children showed differences in their language and socio-affective performance. Mainstream DLD children have lower performance in general language, where autistic and SCD children have more linguistic variation and are lower in pragmatic and SC tasks, SCD children being more associated with language production difficulties and autistic children with both receptive and productive language. CONCLUSION: Each language component has a different interaction with SC. Likewise, different linguistic profiles are partially found for each disorder. These results are important for future lines of research focusing on specific components of interaction and socio-emotional processes, as well as for clinical and educational treatment. WHAT THIS PAPER ADDS: What is already known on the subject The hierarchical model of Schurz et al. (2021), divide social cognition into three brain constructs: cognitive social cognition (CSC), affective social cognition (ASC) and intermediate social cognition (ISC). They observe a large relationship between language and ISC, a fact that has been corroborated with some other studies. Studies have also found lower linguistic and socio-affective abilities in children with autism and language and communication disorders compared with children with neurotypical development, and large behavioural and neurocognitive overlaps between these disorders (Durrleman et al., 2019; Löytömäki et al., 2019). What this paper adds to existing knowledge This is the first review that relates all linguistic components (narrative, lexicon, morphosyntax, pragmatic and prosody) with the three constructs of social cognition (Cognitive, intermediate and affective). Moreover, it is the first review that studies the socio-linguistic factors comparing autism, developmental language disorder and social communication disorder with each other and with neurotypical development in children aged from 4 to 9 years. What are the potential or actual clinical implications of this work? Understanding how language and social cognition interact with each other in autism spectrum disorder, developmental language disorder and social communication disorder allows us to trace socio-linguistic profiles for each of the studied disorders, understand better children with these difficulties, and, with this, find specific potential intervention points to improve and prevent these difficulties.

11.
J Autism Dev Disord ; 2024 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-38568366

RESUMO

Autistic adults are often challenged to engage in and complete life skill tasks independently and are underrepresented in employment. No prior study has explored the perceptions of autistic individuals regarding K-12 life skills experiences and postsecondary employment. As such, the purposes of this study were to explore the association between components of life skills instruction and employment for 12 autistic individuals, and to elicit the perspectives of and experiences in K-12 education and employment of six autistic adults. As this was a mixed methods study, surveys and semi-structured interviews were conducted. Results of Fisher's test indicated no statistically significant associations between employment and instructional components; however, the associations between employment and household chores [Cramer's V = .60]; cooking [Cramer's V = .66]; one-on-one instruction [Cramer's V = .63]; and field trips [Cramer's V = .41]) were large. The associations between employment and job site training [Cramer's V = .33] and token boards [Cramer's V = .33]) were moderate. Three themes and 10 subthemes emerged. Specifically, participants remembered Memorable Components from K-12 instruction: (a) job site training, (b) field trips, and (c) household chores. Participants perceived Beneficial Practices as: (a) job site training and (b) skills learned. Participants described shortcomings of K-12 instruction as need (a) for more skills training, (c) for social skills training, (d) to eliminate unnecessary instruction and (e) to carefully consider student placement. In conclusion, participants described experiences that helped them gain and attain post-secondary employment. More specific individualized programming in K-12 instruction would be beneficial to develop independence and post-secondary employment.

12.
Am J Med Genet A ; : e63606, 2024 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-38563110

RESUMO

The clinical and genetic characteristics of SYNGAP1 mutations in Korean pediatric patients are not well understood. We retrospectively analyzed 13 individuals with SYNGAP1 mutations from a longitudinal aspect. Clinical data, genetic profiles, and electroencephalography (EEG) patterns were examined. Genotypic analyses included gene panels and whole-exome sequencing. All patients exhibited global developmental delay from early infancy, with motor development eventually reaching independent ambulation by 3 years of age. Language developmental delay varied significantly from nonverbal to simple sentences, which plateaued in all patients. Patients with the best language outcomes typically managed 2-3-word sentences, corresponding to a developmental age of 2-3 years. Epilepsy developed in 77% of patients, with onset consistently following developmental delays at a median age of 31 months. Longitudinal EEG data revealed a shift from occipital to frontal epileptiform discharges with age, suggesting a correlation with synaptic maturation. These findings suggest that the critical developmental plateau occurs between the ages of 2 and 5 years and is potentially influenced by epilepsy. By analyzing longitudinal data, our study contributes to a deeper understanding of SYNGAP1-related DEE, provides potential EEG biomarkers, and underlines the importance of early diagnosis and intervention to address this complex disorder.

13.
J Autism Dev Disord ; 2024 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-38564065

RESUMO

Children with developmental disabilities have different feeding and swallowing problems. The purposes of the present study were to develop an Arabic version of the FHI-C and to evaluate its validity, consistency, and reliability in Arabic children with developmental disabilities for assessing how feeding and swallowing problems impair the physical, functional, and emotional aspects of children's lives. A prospective study including 113 children [62 children with autism spectrum disorder (ASD), 24 with cerebral palsy (CP), 27 with intellectual disability (ID)], in the age range of 2 to 10 years, selected randomly from the swallowing clinic, phoniatrics unit, Otorhinolaryngology department, University hospital between September 2023 and December 2023 complaining of feeding and swallowing problems. Validity was established by comparing patients` scores to typically developed controls (31 children). For test-retest reliability, forty parents filled out the A-FHI-C again two weeks after their initial visit. Cronbach's alpha for A-FHI-C was 0.986, indicating good internal consistency. Intraclass correlation showed 0.850 with a 95% confidence interval from 0.779 to 0.898. All three clinical groups had significantly higher total FHI-C and FHI-C domain scores than the control group, indicating good validation. A-FHI-C was found to have significantly high test-retest reliability. The current study indicates that in children with ASD, CP, ID, feeding problems are more prevalent than children who are typically developed. The scores obtained can be used by phoniatricans to evaluate feeding problems and monitor the progress of the therapy plan in children with developmental disorders.

14.
Front Hum Neurosci ; 18: 1245707, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38571523

RESUMO

Background: Motor Imagery (MI) is a cognitive process consisting in mental simulation of body movements without executing physical actions: its clinical use has been investigated prevalently in adults with neurological disorders. Objectives: Review of the best-available evidence on the use and efficacy of MI interventions for neurorehabilitation purposes in common and rare childhood neurological disorders. Methods: systematic literature search conducted according to PRISMA by using the Scopus, PsycArticles, Cinahl, PUBMED, Web of Science (Clarivate), EMBASE, PsychINFO, and COCHRANE databases, with levels of evidence scored by OCEBM and PEDro Scales. Results: Twenty-two original studies were retrieved and included for the analysis; MI was the unique or complementary rehabilitative treatment in 476 individuals (aged 5 to 18 years) with 10 different neurological conditions including, cerebral palsies, stroke, coordination disorders, intellectual disabilities, brain and/or spinal cord injuries, autism, pain syndromes, and hyperactivity. The sample size ranged from single case reports to cohorts and control groups. Treatment lasted 2 days to 6 months with 1 to 24 sessions. MI tasks were conventional, graded or ad-hoc. MI measurement tools included movement assessment batteries, mental chronometry tests, scales, and questionnaires, EEG, and EMG. Overall, the use of MI was stated as effective in 19/22, and uncertain in the remnant studies. Conclusion: MI could be a reliable supportive/add-on (home-based) rehabilitative tool for pediatric neurorehabilitation; its clinical use, in children, is highly dependent on the complexity of MI mechanisms, which are related to the underlying neurodevelopmental disorder.

15.
Front Genet ; 15: 1363849, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38572415

RESUMO

Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social interaction and communication associated with repetitive behaviors and interests, with strong clinical heterogeneity. Genetic factors play an important role in ASD, but about 75% of ASD cases have an undetermined genetic risk. Methods: We extensively investigated an ASD cohort made of 102 families from the Middle Eastern population of Qatar. First, we investigated the copy number variations (CNV) contribution using genome-wide SNP arrays. Next, we employed Next Generation Sequencing (NGS) to identify de novo or inherited variants contributing to the ASD etiology and its associated comorbid conditions in families with complete trios (affected child and the parents). Results: Our analysis revealed 16 CNV regions located in genomic regions implicated in ASD. The analysis of the 88 ASD cases identified 41 genes in 39 ASD subjects with de novo (n = 24) or inherited variants (n = 22). We identified three novel de novo variants in new candidate genes for ASD (DTX4, ARMC6, and B3GNT3). Also, we have identified 15 de novo variants in genes that were previously implicated in ASD or related neurodevelopmental disorders (PHF21A, WASF1, TCF20, DEAF1, MED13, CREBBP, KDM6B, SMURF1, ADNP, CACNA1G, MYT1L, KIF13B, GRIA2, CHM, and KCNK9). Additionally, we defined eight novel recessive variants (RYR2, DNAH3, TSPYL2, UPF3B KDM5C, LYST, and WNK3), four of which were X-linked. Conclusion: Despite the ASD multifactorial etiology that hinders ASD genetic risk discovery, the number of identified novel or known putative ASD genetic variants was appreciable. Nevertheless, this study represents the first comprehensive characterization of ASD genetic risk in Qatar's Middle Eastern population.

16.
Child Neuropsychol ; : 1-9, 2024 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-38578305

RESUMO

The size and regulation of personal space are reportedly atypical in autistic individuals. As personal space regulates social interaction, its developmental change is essential for understanding the nature of social difficulties that autistic individuals face. Adolescence is an important developmental period in which social relationships become complex. We conducted a three-year longitudinal study of interpersonal distances in autistic and typically developing (TD) individuals aged 12-18 years at Time 1 and 15-21 years at Time 2. Their preferred interpersonal distances were measured when an experimenter approached the participants with and without eye contact. The interpersonal distances of autistic individuals were shorter than those of TD individuals at both Time 1 and Time 2. Furthermore, the interpersonal distances of autistic individuals at Time 1 and Time 2 were highly correlated, but no such correlation was found in TD individuals. The results suggest that the interpersonal distances of autistic individuals are stable and that the shorter preferred interpersonal distances in autistic individuals compared to those of TD individuals are maintained during adolescence.

17.
J Pharm Bioallied Sci ; 16(Suppl 1): S905-S908, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38595631

RESUMO

Background and Objectives: Numerous therapeutic and dietary interventions have been examined in the last thirty years for pediatric patients diagnosed with autism spectrum disorder (ASD). Our interventional study aimed to assess the effectiveness of the gluten-free, casein-free (GFCF) diet in a cohort of Egyptian children with ASD. Materials and Methods: The present clinical trial was conducted as a prospective 12-month, open-label, case-controlled interventional study. Thirty-six ASD children who were newly diagnosed and had not taken any prior psychiatric or rehabilitation therapy were included in this study. The patients were randomly assigned into two groups: group A, which received the GFCF diet, and group B, which served as the control group and was not restricted to food containing gluten and casein for 12 months. All patients were followed up for 1 year. Results: Following the implementation of the GFCF diet in group A, significant improvements in CARS scores were observed compared to group B after 6-month and 1-year follow-up periods. Conclusions: The introduction of the GFCF diet could be helpful and promising for autistic children. Conclusive evidence regarding the effectiveness of the GFCF diet remains a subject of controversy. Nonetheless, our study contributes some evidence supporting its potential benefits for children with ASD. It is recommended that future research on the GFCF diet employ a more sophisticated research design, incorporating a consistent baseline measure that can effectively assess the therapeutic effects of these interventions for individuals with ASD.

18.
EClinicalMedicine ; 71: 102586, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38596613

RESUMO

Background: Many autistic people, particularly women, do not receive an autism diagnosis until adulthood, delaying their access to timely support and clinical care. One possible explanation is that autistic traits may initially be misinterpreted as symptoms of other psychiatric conditions, leading some individuals to experience misdiagnosis of other psychiatric conditions prior to their autism diagnosis. However, little is currently known about the frequency and nature of psychiatric misdiagnoses in autistic adults. Methods: Using data collected in the first half of 2019 from an ongoing longitudinal register of autistic adults in the Netherlands, this study explored the frequency of perceived psychiatric misdiagnoses before receiving an autism diagnosis. Gender differences were also explored. A sample of 1211 autistic adults (52.6% women, mean age 42.3 years), the majority of whom were Dutch and relatively highly educated, was evaluated. Findings: Results showed that 24.6% (n = 298) of participants reported at least one previous psychiatric diagnosis that was perceived as a misdiagnosis. Personality disorders were the most frequent perceived misdiagnoses, followed by anxiety disorders, mood disorders, chronic fatigue syndrome/burnout-related disorders, and attention-deficit/hyperactivity disorder. Autistic women (31.7%) reported perceived misdiagnoses more frequently than men (16.7%). Women were specifically more likely than men to report perceived misdiagnoses of personality disorders, anxiety disorders, and mood disorders. Women also reported prior psychiatric diagnoses more often in general (65.8% versus 34.2% in men). Within the group of individuals with a prior diagnosis, perceived misdiagnoses were equally likely for men and women. Interpretation: One in four autistic adults, and one in three autistic women, reported at least one psychiatric diagnosis, obtained prior to being diagnosed with autism, that was perceived as a misdiagnosis. Inaccurate diagnoses are linked to long diagnostic pathways and delayed recognition of autism. These findings highlight the need for improved training of mental health practitioners, in order to improve their awareness of the presentation of autism in adulthood and of the complex relationship between autism and co-occurring conditions. The current study constitutes a first step towards showing that autistic adults, and particularly women, may be at greater risk of experiencing misdiagnoses. Future studies based on larger, more representative samples are required, to replicate current findings and provide more reliable estimates of the overall frequency of misdiagnoses as well as the frequency of misdiagnoses for specific psychiatric conditions. Funding: This study was made possible by funding from the Netherlands Organisation for Health Research and Development (ZonMW), project number 60-63600-98-834.

19.
Front Psychiatry ; 15: 1338776, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38596630

RESUMO

The study of atypical language acquisition in children with, autism spectrum disorder (ASD) is crucial for both practical and theoretical reasons. Understanding the course of language development in ASD can inform potential interventions and treatments while shedding light on the necessary conditions for language development in typically developing children. This scientometric review aims to provide a comprehensive overview of the research landscape in this field, identifying trends, patterns, and knowledge gaps. The methods employed in this review comprise a systematic search of three major databases: Scopus (5,026 documents), Web of Science (WoS; 4,570 documents), and Lens (3,235 documents). The analysis includes bibliometric indicators such as knowledge production size by year, country, university, source, subject area, author, and citation. Scientometric indicators consist of burst detection, silhouette, clusters, citation, and co-occurrence of keywords. The analysis reveals clusters focusing on various aspects of language development in ASD, such as motor skills, parental communication strategies, cognitive processes, and genetics. Key clusters include the relationship between fine motor gestures and language usage patterns, the role of expressive language skills and maternal gesture use, and the effectiveness of online parent training modules for improving prelinguistic predictors. Other noteworthy clusters explore the importance of core language skills, the role of natural language input and syntactic complexity, and the genetic underpinnings of language abilities in high-functioning adults with ASD. In conclusion, this scientometric review highlights the top 10 clusters and their respective Silhouette values, providing valuable insights into language acquisition in ASD. These findings have important implications for guiding future research directions and informing the creation of targeted and effective interventions to support language acquisition in this population.

20.
Comput Biol Med ; 174: 108415, 2024 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-38599070

RESUMO

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that requires objective and accurate identification methods for effective early intervention. Previous population-based methods via functional connectivity (FC) analysis ignore the differences between positive and negative FCs, which provide the potential information complementarity. And they also require additional information to construct a pre-defined graph. Meanwhile, two challenging demand attentions are the imbalance of performance caused by the class distribution and the inherent heterogeneity of multi-site data. In this paper, we propose a novel dynamic graph Transformer network based on dual-view connectivity for ASD Identification. It is based on the Autoencoders, which regard the input feature as individual feature and without any inductive bias. First, a dual-view feature extractor is designed to extract individual and complementary information from positive and negative connectivity. Then Graph Transformer network is innovated with a hot plugging K-Nearest Neighbor (KNN) algorithm module which constructs a dynamic population graph without any additional information. Additionally, we introduce the PolyLoss function and the Vrex method to address the class imbalance and improve the model's generalizability. The evaluation experiment on 1102 subjects from the ABIDE I dataset demonstrates our method can achieve superior performance over several state-of-the-art methods and satisfying generalizability for ASD identification.

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