Convergent and Divergent Contribution of Vitamin A and Oxytocin to Autism Spectrum Disorder Aetiology DOI
Tao Wang,

liqiu liu,

Tianda Fan

и другие.

SSRN Electronic Journal, Год журнала: 2022, Номер unknown

Опубликована: Янв. 1, 2022

Background: Rare genetic variations have been revealed to contribute the heterogeneity of autism spectrum disorder (ASD) and heterogeneous responses various interventions in ASD patients. However, potential clinical application rare intervention remains poorly investigated.Methods: Using publicly available de novo mutations (DNMs), inherited variants, copy number (CNVs) from 9,902, 3,572, 21,598 individuals, respectively, including probands normal controls, we estimated association between each type 410 vitamin A (VA)-related genes (VARGs) andASD aetiology. Additionally, compared similarities differences VA oxytocin with respect aetiology using same dataset. Findings: Functional DNMs pathogenic CNVs VARGs were found significantly pathogenesis. a combined model, 324 VA-related biomarkers identified ~8% Comparing them 458 previously oxytocin-related biomarkers, 243 shared, 81 VA-only, 215 oxytocin-only revealed, affecting ~7%, ~1%, ~3% patients, respectively. Moreover, convergent divergent functions such as MAPK3 beingassociated both oxytocin, whereas UBE3A SHANK3 exclusively associated Interpretation: Our findings provide basis for future studies aimed at understanding pathophysiological mechanisms underlying ASD, set molecular VA-, oxytocin-, or combination-based treatments.Funding Information: This work was supported by Guangdong Key Project "Early diagnosis treatment disorders" (#202007030002 ZSS), "Development new tools Autism" (#2018B030335001 National Natural Science Foundation China (#31871191 Strategic Priority Research Program Chinese Academy Sciences (XDPB16 Technology Major Hunan Provincial Department (#2021SK1010 Kun Xia),National (#82130043 #81730036 Xia).Declaration Interests: We declare no competing interests.

Язык: Английский

El conocimiento del profesorado sobre el Trastorno del Espectro Autista DOI Creative Commons
Andrea Fuster‐Rico, María Pérez‐Marco, Carolina Gonzálvez

и другие.

Multidisciplinary Journal of Educational Research, Год журнала: 2023, Номер 13(1)

Опубликована: Фев. 15, 2023

Este trabajo se propuso estudiar el nivel de conocimientos sobre Trastorno del Espectro Autismo (TEA) que poseen 51 maestros. Se empleó Autism Knowledge Questionnarie (AKQ) como instrumento para evaluar conocimiento TEA. obtuvo un 5.9 %, 47.1 % y los participantes presentaron, respectivamente, débil, aceptable bueno. Las carencias asociaron con la comorbilidad, las características TEA efectos medicación. Los resultados ANOVAS evidenciaron puntuaciones medias en AKQ no difirieron significativamente función género, formación universitaria, años experiencia docente tipo centro. Respecto al perfil profesional actual, maestros Educación Especial o Audición Lenguaje obtuvieron más elevadas Primaria (d = 6.41). Del mismo modo, aquellos profesionales habían tenido contacto personas presentaban considerablemente alto 7.62). En conclusión, es necesaria una reconceptualización donde prime alumnado enriquecer su y, así, llevar a cabo Inclusiva.

Процитировано

0

Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder DOI Creative Commons
Tao Wang,

Liqiu Liu,

Tianda Fan

и другие.

Computational and Structural Biotechnology Journal, Год журнала: 2023, Номер 21, С. 3109 - 3123

Опубликована: Янв. 1, 2023

Rare genetic variations contribute to the heterogeneity of autism spectrum disorder (ASD) and responses various interventions for ASD probands. However, associated molecular underpinnings remain unclear. Herein, we estimated association between rare in 410 vitamin A (VA)-related genes (VARGs) aetiology using publicly available de novo mutations (DNMs), inherited variants, copy number (CNVs) from about 50,000 probands 20,000 normal controls (discovery validation cohorts). Additionally, given functional relevance VA oxytocin, systematically compared similarities differences oxytocin with respect evaluated their potential clinical applications. Functional DNMs pathogenic CNVs VARGs contributed pathogenesis discovery cohorts. 324 VA-related biomarkers were identified, 243 which shared previously identified oxytocin-related biomarkers, while 81 unique biomarkers. Moreover, multivariable logistic regression analysis revealed that both VA- able predict individuals carrying DNM corresponding an average precision 0.94. As well as, convergent divergent functions also The findings this study provide a basis future studies aimed at understanding pathophysiological mechanisms underlying defining set adjuvant diagnosis intervention ASD.

Язык: Английский

Процитировано

0

Patterns of neural activity in response to threatening faces are predictive of autistic traits: modulatory effects of oxytocin receptor genotype DOI Creative Commons
Keith M. Kendrick, Xiaoxiao Zheng, Feng Zhou

и другие.

Research Square (Research Square), Год журнала: 2023, Номер unknown

Опубликована: Окт. 3, 2023

Abstract Autistic individuals generally demonstrate impaired emotion recognition but it is unclear whether effects are emotion-specific or influenced by oxytocin receptor (OXTR) genotype. Here we implemented a dimensional approach using an implicit task together with functional MRI in large cohort of subjects (N = 255) to establish associations between autistic traits and neural behavioral responses specific face emotions, modulatory OXTR A searchlight-based multivariate pattern analysis (MVPA) revealed extensive network frontal, basal ganglia, cingulate limbic regions exhibiting significant predictability for from patterns angry relative neutral expression faces. Functional connectivity analyses genotype interaction (rs2254298, rs2268491) coupling the orbitofrontal cortex mid-cingulate during processing, negative association risk-allele group positive one non-risk allele group. Overall, results indicate primarily faces processing motivation, reward salience not early visual processing. connections these identified were only associated also Thus, altered threatening may be potential biomarker symptoms although influences need taken into account.

Язык: Английский

Процитировано

0

Convergent and Divergent Contribution of Vitamin A and Oxytocin to Autism Spectrum Disorder Aetiology DOI
Tao Wang,

liqiu liu,

Tianda Fan

и другие.

SSRN Electronic Journal, Год журнала: 2022, Номер unknown

Опубликована: Янв. 1, 2022

Background: Rare genetic variations have been revealed to contribute the heterogeneity of autism spectrum disorder (ASD) and heterogeneous responses various interventions in ASD patients. However, potential clinical application rare intervention remains poorly investigated.Methods: Using publicly available de novo mutations (DNMs), inherited variants, copy number (CNVs) from 9,902, 3,572, 21,598 individuals, respectively, including probands normal controls, we estimated association between each type 410 vitamin A (VA)-related genes (VARGs) andASD aetiology. Additionally, compared similarities differences VA oxytocin with respect aetiology using same dataset. Findings: Functional DNMs pathogenic CNVs VARGs were found significantly pathogenesis. a combined model, 324 VA-related biomarkers identified ~8% Comparing them 458 previously oxytocin-related biomarkers, 243 shared, 81 VA-only, 215 oxytocin-only revealed, affecting ~7%, ~1%, ~3% patients, respectively. Moreover, convergent divergent functions such as MAPK3 beingassociated both oxytocin, whereas UBE3A SHANK3 exclusively associated Interpretation: Our findings provide basis for future studies aimed at understanding pathophysiological mechanisms underlying ASD, set molecular VA-, oxytocin-, or combination-based treatments.Funding Information: This work was supported by Guangdong Key Project "Early diagnosis treatment disorders" (#202007030002 ZSS), "Development new tools Autism" (#2018B030335001 National Natural Science Foundation China (#31871191 Strategic Priority Research Program Chinese Academy Sciences (XDPB16 Technology Major Hunan Provincial Department (#2021SK1010 Kun Xia),National (#82130043 #81730036 Xia).Declaration Interests: We declare no competing interests.

Язык: Английский

Процитировано

0