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1.
Siglo cero (Madr.) ; 54(4): 65-83, oct.-dic. 2024.
Article in Spanish | IBECS | ID: ibc-229229

ABSTRACT

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)


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Educational Technology , Autism Spectrum Disorder , Autistic Disorder
2.
Siglo cero (Madr.) ; 54(4): 65-83, oct.-dic. 2024.
Article in Spanish | IBECS | ID: ibc-EMG-559

ABSTRACT

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)


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Educational Technology , Autism Spectrum Disorder , Autistic Disorder
3.
Article in English | MEDLINE | ID: mdl-38989796

ABSTRACT

BACKGROUND: Parental input plays a central role in typical language acquisition and development. In autism spectrum disorder (ASD), characterized by social communicative and language difficulties, parental input presents an important avenue for investigation as a target for intervention. A rich body of literature has identified which aspects of grammatical complexity and lexical diversity are most associated with child language ability in both typical development and autism. Yet, the majority of these studies are conducted with English-speaking children, thus potentially overlooking nuances in parental input derived from cross-linguistic variation. AIMS: To examine the differences in verbal parental input to Bulgarian- and English-speaking children with ASD. To examine whether aspects of verbal parental input found to be concurrent predictors of English-speaking children's expressive language ability are also predictors of the expressive language of Bulgarian-speaking children with ASD. METHODS & PROCEDURES: We compared parental input to Bulgarian-speaking (N = 37; 2;7-9;10 years) and English-speaking (N = 37; 1;8-4;9 years) children with ASD matched on expressive language. Parent-child interactions were collected during free play with developmentally appropriate toys. These interactions were transcribed, and key measures of parental input were extracted. OUTCOMES & RESULTS: English-speaking parents produced more word tokens and word types than Bulgarian-speaking parents. However, Bulgarian parents produced more verbs in relation to nouns and used more statements and exclamations but asked fewer questions than English-speaking parents. In addition, child age and parents' use of questions were significant concurrent predictors of child expressive vocabulary. CONCLUSIONS & IMPLICATIONS: This is one of the first studies to conduct a cross-linguistic comparison of parental input in ASD. The differences found emphasize the need to further study parental input to Bulgarian children and adapt naturalistic parent-mediated interventions to the local language and its specific characteristics. WHAT THIS PAPER ADDS: What is already known on the subject A rich body of literature has identified the specific aspects of grammatical complexity, lexical diversity, and question-asking that are concurrently and longitudinally associated with the language ability of children with typical development and of children with ASD. Yet, the majority of these studies are conducted with English-speaking children. What this paper adds to the existing knowledge The present study finds that there are specific differences in verbal parental input to Bulgarian- and English-speaking children with autism in terms of lexical composition and question-asking. Bulgarian parents used more verbs than nouns, and the opposite pattern was found for English-speaking parents. In addition, Bulgarian parents asked fewer questions but used more statements and exclamations. Nevertheless, parental question use was significantly correlated with children's language ability across both groups, suggesting that question-asking should be further examined as a potential target for parent-mediated language interventions for Bulgarian children with autism. What are the potential or actual clinical implications of this work? Most language and social communication interventions for autism are designed and piloted with English-speaking children. These interventions are often simply translated and used in different countries, with different populations and in different contexts. However, considering that one of the defining characteristics of autism is language difficulty, more studies should examine (1) how these language difficulties manifest in languages other than English, and (2) what characterizes verbal parental input in these other contexts. Such research investigations should inform future language and social communication interventions. The present study emphasizes the cross-linguistic differences between Bulgarian- and English-speaking parents' verbal input to their children with autism.

4.
Exp Eye Res ; 245: 109988, 2024 Jul 02.
Article in English | MEDLINE | ID: mdl-38964496

ABSTRACT

Autism spectrum disorder (ASD) is a group of neurodevelopment disorders characterized by deficits in social interaction and communication, and repetitive or stereotyped behavior. Autistic children are more likely to have vision problems, and ASD is unusually common among blind people. However, the mechanisms behind the vision disorders in autism are unclear. Stabilizing WNT-targeted scaffold protein Axin2 by XAV939 during embryonic development causes overproduction of cortical neurons and leads to autistic-like behaviors in mice. In this study, we investigated the relationship between vision abnormality and autism using an XAV939-induced mouse model of autism. We found that the mice receiving XAV939 had decreased amplitude of bright light-adaptive ERG. The amplitudes and latency of flash visual evoked potential recorded from XAV939-treated mice were lower and longer, respectively than in the control mice, suggesting that XAV939 inhibits visual signal processing and conductance. Anatomically, the diameters of RGC axons were reduced when Axin2 was stabilized during the development, and the optic fibers had defective myelin sheaths and reduced oligodendrocytes. The results suggest that the WNT signaling pathway is crucial for optic nerve development. This study provides experimental evidence that conditions interfering with brain development may also lead to visual problems, which in turn might exaggerate the autistic features in humans.

5.
Neuropharmacology ; 257: 110057, 2024 Jul 02.
Article in English | MEDLINE | ID: mdl-38964596

ABSTRACT

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by alterations and imbalances in multiple brain neurochemical systems, particularly the serotonergic neurotransmission. This includes changes in serotonin (5-HT) levels, aberrations in 5-HT transporter activity, and decreased synthesis and expression of 5-HT receptors (5-HT7Rs). The exact role of the brain 5-HT system in the development of ASD remains unclear, with conflicting evidence on its involvement. Recently, we have reported research has shown a significant decrease in serotonergic neurons originating from the raphe nuclei and projecting to the CA1 region of the dorsal hippocampus in autistic-like rats. Additionally, we have shown that chronic activation of 5-HT7Rs reverses the effects of autism induction on synaptic plasticity. However, the functional significance of 5-HT7Rs at the cellular level is still not fully understood. This study presents new evidence indicating an upregulation of 5-HT7R in the CA1 subregion of the hippocampus following the induction of autism. The present account also demonstrates that activation of 5-HT7R with its agonist LP-211 can reverse electrophysiological abnormalities in hippocampal pyramidal neurons in a rat model of autism induced by prenatal exposure to VPA. Additionally, in vivo administration of LP-211 resulted in improvements in motor coordination, novel object recognition, and a reduction in stereotypic behaviors in autistic-like offspring. The findings suggest that dysregulated expression of 5-HT7Rs may play a role in the pathophysiology of ASD, and that agonists like LP-211 could potentially be explored as a pharmacological treatment for autism spectrum disorder.

6.
Soa Chongsonyon Chongsin Uihak ; 35(3): 197-209, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38966201

ABSTRACT

Objectives: In this functional magnetic resonance imaging study, we aimed to investigate the differences in brain activation between individuals with autism spectrum disorder (ASD) and typically developing (TD) individuals during perspective taking. We also examined the association between brain activation and empathic and interoceptive abilities. Methods: During scanning, participants from the ASD (n=17) and TD (n=22) groups were shown pain stimuli and asked to rate the level of the observed pain from both self- and other-perspectives. Empathic abilities, including perspective taking, were measured using an empathic questionnaire, and three dimensions of interoception were assessed: interoceptive accuracy, interoceptive sensibility, and interoceptive trait prediction errors. Results: During self-perspective taking, the ASD group exhibited greater activation in the left precuneus than the TD group. During other-perspective taking, relative hyperactivation extended to areas including the right precuneus, right superior frontal gyrus, left caudate nucleus, and left amygdala. Brain activation levels in the right superior frontal gyrus while taking other-perspective were negatively correlated with interoceptive accuracy, and those in the left caudate were negatively correlated with perspective taking ability in the ASD group. Conclusion: Individuals with ASD show atypical brain activation during perspective taking. Notably, their brain regions associated with stress reactions and escape responses are overactivated when taking other-perspective. This overactivity is related to poor interoceptive accuracy, suggesting that individuals with ASD may experience difficulties with the self-other distinction or atypical embodiment when considering another person's perspective.

7.
Behav Anal Pract ; 17(2): 442-455, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38966271

ABSTRACT

This article addresses the relationship between applied behavior analysis (ABA) and the emergence of positive behavior support (PBS) in context of autism spectrum disorder (ASD) in the UK and Ireland. Two overarching issues that are salient in this discussion are professional training and certification. To date, there has been a lack of standardized training or statutory requirements to practice PBS despite proponents insisting that its practice should be grounded in behavior analytic principles. Furthermore, there is an undercurrent of anti-ABA bias fueled by misinterpretation and unsubstantiated anecdotal claims used to promote an alternative "value based" approach to managing behavior.

8.
Behav Anal Pract ; 17(2): 371-388, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38966268

ABSTRACT

ABA research abounds with articles on increasing or decreasing a small set of behaviors. These articles fit nicely within the framework of Focused ABA Treatment in which the goal of treatment centers on only a few behaviors. However, many behavioral practitioners spend most of their time developing Comprehensive ABA Treatment in which a large number of behaviors are systematically changed across multiple developmental domains. Few resources are available to help in designing and implementing such programming. This article presents a model from the field of instructional design for the development of comprehensive programming. Applying the ADDIE model-Analyze, Design, Develop, Implement, Evaluate-the article identifies a consistent process to follow, critical actions to take, and helpful resources to use when developing comprehensive programming for individuals with autism.

9.
Behav Anal Pract ; 17(2): 533-543, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38966279

ABSTRACT

Specifically designed data sheets have been recommended to assist with the fidelity of implementation of treatment procedures. The present study extended previous research (e.g., Bottini et al. Behavior Analysis: Research & Practice 21(2), 140-152, 2021; LeBlanc et al. Behavior Analysis in Practice 13(1), 53-62, 2020) by comparing an enhanced data sheet (i.e., the inclusion of randomized targets, prompts for treatment components of securing attending and reinforcement) to a standard data sheet (i.e., targets not preset, no prompts for treatment components) on the fidelity of tact training of features. Ten behavior therapists participated in each condition (n = 20). Participants first watched a brief instructional video explaining the teaching procedure and their assigned data sheet, followed by conducting a treatment session with a confederate serving as a child with autism spectrum disorder. The enhanced data sheet resulted in higher fidelity on multiple variables including randomizing of targets and data collection.

10.
Behav Anal Pract ; 17(2): 565-580, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38966278

ABSTRACT

Promoting excellence in autism intervention is arguably more urgent than ever for the field of applied behavior analysis. To fulfill this objective, autism agencies must operate from validated program systems and do so with fidelity. Program components include, but are not limited to, staff training and evaluation of clinical skills, functional personnel roles designed to promote positive outcomes for those served, and professional staff-communication-skill repertoires. Data on client outcomes must be tied to implementation of core program variables; and, contingencies between the data on client outcomes and staff performance must exist. Furthermore, these contingencies must be yoked across members of the organization to ensure a sustainable and effective program model. Finally, data on consumer satisfaction must be collected and used to evaluate program components and agency practices. Members of the Alliance for Scientific Autism Intervention have implemented key program-wide systems based upon the work of McClannahan and Krantz Journal of Applied Behavior Analysis, 26, 589-596 (1993) for decades and across various agency cultures. Data collected by six independent educational agencies on client outcomes, program implementation, and consumer feedback for a 10-year time span demonstrate the sustainability of the model and support the importance of key organizational systems and the relationship between implementation of the model and high-quality outcomes for individuals with autism.

11.
Nutr Neurosci ; : 1-35, 2024 Jul 05.
Article in English | MEDLINE | ID: mdl-38968136

ABSTRACT

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that impairs communication, socialization, and behavior. The association of ASD with folic acid has been investigated due to the importance of this vitamin for neurological health. This study is an update of the publication 'Folic acid and autism: What do we know?' and aims to systematically review studies examining the relationship between folic acid and ASD. The search resulted in 2,389 studies on folic acid and ASD, which were selected by two reviewers based on their titles and abstracts. Studies meeting the inclusion criteria were fully read. The 52 included studies involved 10,429 individuals diagnosed with ASD and assessed the intake of vitamin B6, folic acid, and vitamin B12; serum levels of these vitamins, homocysteine, and methionine; therapeutic interventions using folic acid; and the association between maternal exposure to this vitamin and the risk of ASD. The evidence of insufficient folic acid intake in most individuals with ASD remains consistent in this update. No association was found between maternal exposure to folic acid and the risk of ASD in their children. Despite observed improvements in communication, socialization, and behavior in individuals with ASD following folic acid interventions, it is crucial to consider the individuality and complexity of ASD. Given the relevance of the topic, there remains a need for more high-quality research and clinical trials characterized by rigorous methodological designs.

12.
Article in English | MEDLINE | ID: mdl-38969925

ABSTRACT

The electronic health record (EHR) should contain information to support culturally responsive care and research; however, the widely used default "Asian" demographic variable in most US social systems (including EHRs) lacks information to describe the diverse experience within the Asian diaspora (e.g., ethnicities, languages). This has a downstream effect on research, identifying disparities, and addressing health equity. We were particularly interested in EHRs of autistic patients from the Asian diaspora, since the presence of a developmental diagnosis might call for culturally responsive care around understanding causes, treatments, and services to support good outcomes. The aim of this study is to determine the degree to which information about Asian ethnicity, languages, and culture is documented and accessible in the EHR, and whether it is differentially available for patients with or without autism. Using electronic and manual medical chart review, all autistic and "Asian" children (group 1; n = 52) were compared to a randomly selected comparison sample of non-autistic and "Asian" children (group 2; n = 50). Across both groups, manual chart review identified more specific approximations of racial/ethnic backgrounds in 54.5% of patients, 56% for languages spoken, and that interpretation service use was underestimated by 13 percentage points. Our preliminary results highlight that culturally responsive information was inconsistent, missing, or located in progress notes rather than a central location where it could be accessed by providers. Recommendations about the inclusion of Asian ethnicity and language data are provided to potentially enhance cultural responsiveness and support better outcomes for families with an autistic child.

13.
Matern Health Neonatol Perinatol ; 10(1): 13, 2024 Jul 03.
Article in English | MEDLINE | ID: mdl-38956743

ABSTRACT

INTRODUCTION: The constellation of pre and perinatal predictors are introduced as predictor for autism spectrum disorders (ASD), however, the information about the direction and strength of these predictors are lacking in Western, Iran. The current study aimed to determine the pre and perinatal predictors of ASD among children in this region. METHODS: This case-control study was conducted in Hamadan, Western Iran during January to March 2022. The study included 100 children with ASD who referred to the autism center as case group. Hundred children without ASD from registration system of health service centers were selected as control group and were matched (1:1) to cases by age and place of residency. A structured questionnaire about pre and perinatal predictors of ASD was developed by an expert panel. The questionnaire was administered by interviewing the mothers of children. RESULTS: Boy gender (OR: 3.51, 95% CI: 1.74-7.10, p-value < 0.001), small for gestational age (SGA) (3.92, 1.64-9.39, 0.002), maternal diabetes (3.51, 1.03-24.95, 0.04) and family history of mental disorders (3.64, 1.18-11.27, 0.04) were identified as significant predictors in a multivariable analysis. CONCLUSION: Our study emphasizes on the importance of screening and monitoring for ASD in the boys, those with history of SGA, from mothers with history of diabetes and with family history of mental disorders. Proposing the replication of findings emphasizes the necessity of conducting studies with larger sample sizes.

14.
Nagoya J Med Sci ; 86(2): 216-222, 2024 May.
Article in English | MEDLINE | ID: mdl-38962417

ABSTRACT

Psychiatric disorders are highly inheritable, and most psychiatric disorders exhibit genetic overlap. Recent studies associated the 3q29 recurrent deletion with schizophrenia (SCZ) and autism spectrum disorder (ASD). In this study, we investigated the association of genes in the 3q29 region with SCZ and ASD. TM4SF19 and PAK2 were chosen as candidate genes for this study based on evidence from previous research. We sequenced TM4SF19 and PAK2 in 437 SCZ cases, 187 ASD cases and 524 controls in the Japanese population. Through targeted sequencing, we identified 6 missense variants among the cases (ASD & SCZ), 3 missense variants among controls, and 1 variant common to both cases and controls; however, no loss-of-function variants were identified. Fisher's exact test showed a significant association of variants in TM4SF19 among cases (p=0.0160). These results suggest TM4SF19 variants affect the etiology of SCZ and ASD in the Japanese population. Further research examining 3q29 region genes and their association with SCZ and ASD is thus needed.


Subject(s)
Asian People , Autism Spectrum Disorder , Genetic Predisposition to Disease , Schizophrenia , Humans , Autism Spectrum Disorder/genetics , Schizophrenia/genetics , Female , Male , Japan , Asian People/genetics , Genetic Predisposition to Disease/genetics , p21-Activated Kinases/genetics , Chromosomes, Human, Pair 3/genetics , Adult , Mutation, Missense/genetics , Case-Control Studies , Genetic Association Studies , East Asian People
15.
Anal Verbal Behav ; 40(1): 28-52, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38962516

ABSTRACT

This study examined the effect of a serial multiple exemplar training (S-MET) procedure on bidirectional naming (BiN) in four preschool children diagnosed with autism spectrum disorder (ASD). A non-concurrent multiple baseline design was used to evaluate the effects of training listener and speaker behavior for one stimulus at a time until BiN occurred. When BiN occurred, probes were conducted to measure whether generalization occurred across settings and people. Three out of four participants' responding met the mastery criterion for BiN, while the fourth participant improved her performance. The results of this study suggest that S-MET may be a promising intervention and contribute to our knowledge about learning histories required for BiN.

16.
Article in English | MEDLINE | ID: mdl-38964630

ABSTRACT

OBJECTIVE: Naturalistic developmental behavioral interventions (NDBI) for children with autism spectrum disorder (ASD) show evidence for effectiveness for specific social communication targets such as joint attention or engagement. However, combining evidence from different studies and comparing intervention effects across those studies have not been feasible due to lack of a standardized outcome measure of broader social communication skills that can be applied uniformly across trials. This investigation examines the usefulness of the Brief Observation of Social Communication Change (BOSCC) as a common outcome measure of general social communication skills based on secondary analyses of data obtained from previously conducted randomized control trials (RCTs) of three intervention models, the Early Social Intervention (ESI), Early Start Denver Model (ESDM) and Joint Attention Symbolic Play Engagement and Regulation (JASPER). METHOD: The subset of datasets from the three RCTs was created to examine differences in the BOSCC scores between intervention and control groups over the course of the interventions. RESULTS: Based on 582 videos from 207 caregiver-child dyads, the BOSCC noted significant differences between intervention vs. control groups in broad social communication skills within two of the three intervention models which were longer in duration and focused on a broad range of developmental skills. CONCLUSION: The BOSCC offers the potential to take a uniform measurement approach across different intervention models to capture the effect of intervention on general social communication skills but may not pick up the effects of some brief interventions targeting proximal outcomes.

17.
Genes Cells ; 2024 Jul 04.
Article in English | MEDLINE | ID: mdl-38964745

ABSTRACT

An autism-associated gene Shank3 encodes multiple splicing isoforms, Shank3a-f. We have recently reported that Shank3a/b-knockout mice were more susceptible to kainic acid-induced seizures than wild-type mice at 4 weeks of age. Little is known, however, about how the N-terminal and ankyrin repeat domains (NT-Ank) of Shank3a/b regulate multiple molecular signals in the developing brain. To explore the functional roles of Shank3a/b, we performed a mass spectrometry-based proteomic search for proteins interacting with GFP-tagged NT-Ank. In this study, NT-Ank was predicted to form a variety of complexes with a total of 348 proteins, in which RNA-binding (n = 102), spliceosome (n = 22), and ribosome-associated molecules (n = 9) were significantly enriched. Among them, an X-linked intellectual disability-associated protein, Nono, was identified as a NT-Ank-binding protein. Coimmunoprecipitation assays validated the interaction of Shank3 with Nono in the mouse brain. In agreement with these data, the thalamus of Shank3a/b-knockout mice aberrantly expressed splicing isoforms of autism-associated genes, Nrxn1 and Eif4G1, before and after seizures with kainic acid treatment. These data indicate that Shank3 interacts with multiple RNA-binding proteins in the postnatal brain, thereby regulating the homeostatic expression of splicing isoforms for autism-associated genes after birth.

18.
Clin Neurophysiol ; 165: 55-63, 2024 Jun 08.
Article in English | MEDLINE | ID: mdl-38959536

ABSTRACT

OBJECTIVE: Electroencephalography (EEG) measures of visual evoked potentials (VEPs) provide a targeted approach for investigating neural circuit dynamics. This study separately analyses phase-locked (evoked) and non-phase-locked (induced) gamma responses within the VEP to comprehensively investigate circuit differences in autism. METHODS: We analyzed VEP data from 237 autistic and 114 typically developing (TD) children aged 6-11, collected through the Autism Biomarkers Consortium for Clinical Trials (ABC-CT). Evoked and induced gamma (30-90 Hz) responses were separately quantified using a wavelet-based time-frequency analysis, and group differences were evaluated using a permutation-based clustering procedure. RESULTS: Autistic children exhibited reduced evoked gamma power but increased induced gamma power compared to TD peers. Group differences in induced responses showed the most prominent effect size and remained statistically significant after excluding outliers. CONCLUSIONS: Our study corroborates recent research indicating diminished evoked gamma responses in children with autism. Additionally, we observed a pronounced increase in induced power. Building upon existing ABC-CT findings, these results highlight the potential to detect variations in gamma-related neural activity, despite the absence of significant group differences in time-domain VEP components. SIGNIFICANCE: The contrasting patterns of decreased evoked and increased induced gamma activity in autistic children suggest that a combination of different EEG metrics may provide a clearer characterization of autism-related circuitry than individual markers alone.

19.
Cell ; 2024 Jun 28.
Article in English | MEDLINE | ID: mdl-38959890

ABSTRACT

Hypothalamic neural circuits regulate instinctive behaviors such as food seeking, the fight/flight response, socialization, and maternal care. Here, we identified microdeletions on chromosome Xq23 disrupting the brain-expressed transient receptor potential (TRP) channel 5 (TRPC5). This family of channels detects sensory stimuli and converts them into electrical signals interpretable by the brain. Male TRPC5 deletion carriers exhibited food seeking, obesity, anxiety, and autism, which were recapitulated in knockin male mice harboring a human loss-of-function TRPC5 mutation. Women carrying TRPC5 deletions had severe postpartum depression. As mothers, female knockin mice exhibited anhedonia and depression-like behavior with impaired care of offspring. Deletion of Trpc5 from oxytocin neurons in the hypothalamic paraventricular nucleus caused obesity in both sexes and postpartum depressive behavior in females, while Trpc5 overexpression in oxytocin neurons in knock-in mice reversed these phenotypes. We demonstrate that TRPC5 plays a pivotal role in mediating innate human behaviors fundamental to survival, including food seeking and maternal care.

20.
Am J Clin Nutr ; 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38960320

ABSTRACT

BACKGROUND: Prenatal fish intake is a key source of omega-3 polyunsaturated fatty acids needed for brain development, yet intake is generally low, and studies addressing associations with autism spectrum disorder (ASD) and related traits are lacking. OBJECTIVE: To examine associations of prenatal fish intake and omega-3 supplement use with both autism diagnosis and broader autism-related traits. METHODS: Participants were drawn from 32 cohorts in the Environmental influences on Child Health Outcomes (ECHO) Cohort Consortium. Children were born between 1999 and 2019 and part of ongoing follow-up with data available for analysis by August 2022. Exposures included self-reported maternal fish intake and omega-3/fish oil supplement use during pregnancy. Outcome measures included parent report of clinician-diagnosed ASD and parent-reported autism-related traits measured by the Social Responsiveness Scale (SRS)-Second Edition (n=3939 and n=3609 for fish intake analyses, respectively; n=4537 and n=3925 for supplement intake analyses, respectively). RESULTS: In adjusted regression models, relative to no fish intake, fish intake during pregnancy was associated with reduced odds of autism diagnosis (OR=0.84, 95% CI 0.77 to 0.92), and a modest reduction in raw total SRS scores (b=-1.69, 95% CI -3.3 to -0.08). Estimates were similar across categories of fish consumption from "any" or "less than once per week" to "more than twice per week." For omega-3 supplement use, relative to no use, no significant associations with autism diagnosis were identified, whereas a modest relation with SRS score was suggested (ß=1.98, 95% CI 0.33-3.64). CONCLUSIONS: These results extend prior work by suggesting that prenatal fish intake, but not omega-3 supplement use, may be associated with lower likelihood of both autism diagnosis and related traits. Given the low fish intake in the U.S. general population and the rising autism prevalence, these findings suggest the need for better public health messaging regarding guidelines on fish intake for pregnant individuals.

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