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1.
J Autism Dev Disord ; 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39249576

RESUMEN

PURPOSE: Restricted and/or repetitive displays of behavior, interests, or activities (RRBs) are one of the core symptom domains of autism spectrum disorder (ASD). Current and past research indicates two 'clusters' of RRBs in children with ASD: repetitive sensorimotor (e.g., hand/finger and more complex motor mannerisms) and insistence on sameness (e.g., resistance to changes in the environment) behaviors. The current study aims to fill a gap by examining how RRBs may diverge in individuals with ASD and with other neurodevelopmental disorders (ONDD) in a clinical sample. METHODS: A total of 558 individuals were seen at a tertiary care clinic for a comprehensive clinical assessment of ASD. The sample was split into ASD (n = 292 individuals) and ONDD (n = 266) groups based on clinical diagnosis. Exploratory factor analyses were conducted using Autism Diagnostic Interview-Revised (ADI-R) RRB item scores for the overall sample, the ASD group, and the ONDD group. RESULTS: Exploratory factor analysis of ADI-R RRB items indicated a 2-factor solution for the full sample and ASD group. Items loaded onto two factors comprised of "Repetitive Sensorimotor" and "Insistence on Sameness" behaviors, consistent with previous literature. Results demonstrated a unique loading pattern for the non-ASD group, with items clustering into "Higher Order" (e.g., circumscribed interests) and "Lower Order" (e.g., hand and finger mannerisms) behaviors. CONCLUSION: The results of the current study may point towards using RRBs to guide screening of children who are referred for an ASD evaluation to better identify children who are at higher risk of having ASD.

2.
Autism Res ; 2024 Aug 21.
Artículo en Inglés | MEDLINE | ID: mdl-39166396

RESUMEN

There is a paucity of research that explores associations between emotion dysregulation and the expression and severity of core and co-occurring characteristics of autism spectrum disorder (ASD), especially in autistic youth with co-occurring intellectual disability (ID). This study explored the interplay between developmental characteristics and emotion dysregulation, anxiety, and specific subtypes of RRBs that are elevated in autistic youth with co-occurring ID. Generalized additive models demonstrated that age, sex, language level, dysregulation, and anxiety showed unique patterns of association with subtypes of RRBs in a sample of 150 autistic youth with co-occurring ID who are non-speaking or minimally verbal. More specifically, higher anxiety levels were significantly associated with elevations in repetitive sensory motor behaviors (RSMB), self-injurious behaviors (SIB), insistence on sameness (IS), and unusual interests (UI). While emotion dysregulation was a significant predictor of UI, it demonstrated positive, albeit not significant, associations with the intensity of SIB and RSMB. Language level was a significant predictor of RSMB, such that the intensity of RSMB was higher for individuals who were non-speaking relative to those who spoke in single words. These findings provide preliminary insights into patterns of associations between emotion dysregulation, anxiety, and specific subdomains of RRBs in autistic youth with ID.

3.
Psychiatry Investig ; 21(1): 44-51, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38281738

RESUMEN

OBJECTIVE: Sibling relationships in early childhood can have a positive impact on children's social interaction and communication skills. Similarly, autistic children can benefit from interactions with their siblings, who can serve as readily available partners for social interaction. However, there is a lack of research on the effects of siblings based on specific characteristics of the sibling. Therefore, the aim of this study is to compare social interactions and communication skills of autistic children based on sibling status and characteristics. METHODS: We conducted a retrospective data review involving 895 autistic children and their siblings at Seoul National University Bundang Hospital. Variety of diagnostic assessments or questionnaires were administered. Based on the characteristics of the data, Quade's test for nonparametric analysis of covariance was used to compare autism-related symptoms and levels of functioning of the autistic child according to 1) sibling status, 2) birth order, 3) sex, and 4) diagnosis of the sibling. Pearson correlation was used to explore associations between the sibling age gap and different clinical scores. RESULTS: Having siblings was associated with fewer difficulties in restricted and repetitive behaviors. Based on the comparison of the Autism Diagnostic Interview-Revised scores, autistic children with multiple siblings demonstrated better nonverbal behaviors. Autistic children with autistic siblings experienced greater difficulties in social interactions and communications, such as peer relationships, sharing enjoyment, and engaging in social imitative play. CONCLUSION: The study revealed differences in social interactions and communication skills of autistic children based on sibling status, birth order, affected sibling, age gap, and sex.

4.
Front Psychiatry ; 14: 1249071, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38034929

RESUMEN

Background: One of the core features of autism spectrum disorder (ASD) is restricted, repetitive patterns of behavior, interests and activities (RRBs). RRBs are known to adversely affect cognition and adaptive functioning. We explored the relationship of RRBs with cognition and adaptive functioning in children with ASD in an Asian setting. Methods: This cross-sectional study was conducted at a tertiary developmental pediatrics center in Singapore from September 2019 to October 2021. Parent-child dyads (parents and their children ≤7 years old diagnosed with ASD) were recruited. Parents completed the Repetitive Behavior Questionnaire-2 (RBQ-2), which reports total score and two subscales - Motor/Sensory Behaviors (RBQ-2 MS) and Rigidity/Routines/Preoccupation with Restricted Interests (RBQ-2 RRPRI). Standardized assessments included Mullen Scales of Early Learning (MSEL) and Vineland Adaptive Behavior Scales (VABS-II). Data analysis utilized descriptive statistics and Pearson's correlation. Results: Parents of 113 children [75.2% male, mean (SD) age 5.0 (1.2) years] participated. Median (IQR) RBQ-2 score was 29.0 (11.0). Significant negative correlations (adjusted for age, gender and family history of ASD) were observed for total RBQ-2 scores with MSEL ELC scores (r = -0.248, n = 101, p = 0.014) and VABS-II ABC scores (r = -0.281, n = 88, p = 0.009). Specifically, these correlations of fair strength were seen only with the RBQ-2 MS subscale for both ELC (r = -0.321, n = 101, p = 0.001) and ABC (r = -0.3478, n = 88, p = 0.001). Conclusion: In children with ASD, severity of RRBs correlated with adverse cognition and adaptive functioning measures in our study, consistent with Western literature. While our study does not show causality, it adds to literature serving as a foundation for further research for both clinicians and researchers to target RRBs in improving outcomes with children in ASD.

5.
Front Behav Neurosci ; 17: 1085404, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36935892

RESUMEN

Background: Restricted and repetitive behaviors (RRBs) are a broad class of behaviors characterized by frequent action repetition and intense preference for sameness. Research has predominantly focused on RRBs in diagnosed clinical groups, particularly in autism spectrum disorder and genetic disorders. Using a transdiagnostic approach, the current study examined RRBs in a diverse sample of children in relation to developmental and demographic correlates (age, language, non-verbal ability, child anxiety, sex, and socioeconomic status). Separate analyses examined two RRB subtypes; repetitive sensory and motor behaviors (RSMB) and insistence on sameness (IS). Method: Children (N = 260, age 4-8 years, 174 male, 86 female) in mainstream schools identified by teachers as having behavioral, emotional, and/or cognitive difficulties, were assessed using the Repetitive Behavior Questionnaire-2 (RBQ-2), the British Picture Vocabulary Scale (BPVS), Lucid Ability Scale, the Welsh Index of Multiple Deprivation (WIMD) and the Screen for Child Anxiety Related Emotional Disorders (SCARED). Recruitment excluded diagnosed clinical conditions. The Strengths and Difficulties Questionnaire (SDQ) was used to assess children's difficulties. Results: RRB scores were of high frequency and the scores for the IS were higher than for RSMB. The severity of anxiety symptoms and male sex were significantly associated with both RRB subtypes, and younger age and SES scores were associated with IS. Elevated RRB total and subtype scores were significantly related to SDQ scores for emotion, conduct, hyperactivity, and peer-relations. Discussion: The study provides the first evidence of RRBs in a diverse sample of young children with emerging difficulties in behavior, cognition, and/or emotion. The results contribute to proposals about psychological development in RRB and indicate that RRBs are best represented on a continuum of severity found across children in the early school years. The results support previous findings of a relation between RRB and anxiety reported in clinical samples and importantly, they indicate that it is time to move beyond the study of categorically defined groups and consider correlates of RRBs that include broad indices of mental health and well-being.

6.
J Autism Dev Disord ; 53(2): 624-632, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33459916

RESUMEN

Previous research has identified possible sex-based differences in restricted and repetitive behaviors in autism spectrum disorder (ASD). However, this finding is mixed, particularly among preschool-aged children. We investigated the presence of sex-based differences in parent-rated ASD symptomatology, using the Autism Spectrum Rating Scale (ASRS). Participants consisted of a large (n = 481,100 female), clinically-referred sample of preschoolers (ages 2-5) diagnosed with ASD (NVIQ: M = 67.11, SD = 21.79). Females had less severe symptoms on the Total, Unusual Behaviors, DSM-5, and Stereotypy scales on the ASRS. The effects were small-to-medium, but statistically significant. There was evidence of differential relationships between nonverbal IQ and ASRS scores among males and females. This study provides additional evidence of sex-based differences in ASD symptoms present from an early age.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Trastorno de Movimiento Estereotipado , Masculino , Humanos , Niño , Preescolar , Femenino , Trastorno del Espectro Autista/diagnóstico , Conducta Estereotipada , Padres
7.
Front Pediatr ; 10: 939841, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36160810

RESUMEN

Restricted and repetitive behaviors (RRBs) are one of the two main diagnostic features of autism spectrum disorder (ASD). To date, a growing body of research on RRB in children with ASD has recently attracted academic attention. The Repetitive Behavior Scale-Revised (RBS-R) was primarily intended for use in evaluating RRBs observed in ASD. This study recruited 381 Chinese children with ASD aged 2-4 years to measure the reliability and validity of the RBS-R. Confirmatory factor analysis (CFA) was applied to the structuring models of the four proposed structural models, indicating that a 6-factor model demonstrated good internal consistency and the best fit based on common overall fit indices. These findings suggest the utility of the Chinese version of RBS-R.

8.
Biol Psychiatry ; 92(8): 654-662, 2022 10 15.
Artículo en Inglés | MEDLINE | ID: mdl-35965107

RESUMEN

BACKGROUND: Sex differences in the prevalence of neurodevelopmental disorders are particularly evident in autism spectrum disorder (ASD). Heterogeneous symptom presentation and the potential of measurement bias hinder early ASD detection in females and may contribute to discrepant prevalence estimates. We examined trajectories of social communication (SC) and restricted and repetitive behaviors (RRBs) in a sample of infant siblings of children with ASD, adjusting for age- and sex-based measurement bias. We hypothesized that leveraging a prospective elevated familial likelihood sample, deriving data-driven behavioral constructs, and accounting for measurement bias would reveal less discrepant sex ratios than are typically seen in ASD. METHODS: We conducted direct assessments of ASD symptoms at 6 to 9, 12 to 15, 24, and 36 to 60 months of age (total nobservations = 1254) with infant siblings of children with ASD (n = 377) and a lower ASD-familial-likelihood comparison group (n = 168; nobservations = 527). We established measurement invariance across age and sex for separate models of SC and RRB. We then conducted latent class growth mixture modeling with the longitudinal data and evaluated for sex differences in trajectory membership. RESULTS: We identified 2 latent classes in the SC and RRB models with equal sex ratios in the high-concern cluster for both SC and RRB. Sex differences were also observed in the SC high-concern cluster, indicating that girls classified as having elevated social concerns demonstrated milder symptoms than boys in this group. CONCLUSIONS: This novel approach for characterizing ASD symptom progression highlights the utility of assessing and adjusting for sex-related measurement bias and identifying sex-specific patterns of symptom emergence.


Asunto(s)
Trastorno del Espectro Autista , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios Prospectivos , Caracteres Sexuales , Razón de Masculinidad , Hermanos
9.
J Autism Dev Disord ; 2022 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-35821544

RESUMEN

Individuals with autism spectrum disorder (ASD) engage in less physical activity than typically-developing peers. This can result in serious negative consequences for individual well-being and may contribute to the physical, behavioral, and emotional challenges associated with ASD. This study explored the potential benefits of trainer-led, individualized, physical fitness sessions specialized for ASD. Eleven individuals (ages 7-24 years) with ASD were assessed at baseline and following 15 fitness sessions. Participants demonstrated improvements in core and lower-body strength and reductions in restricted and repetitive patterns of behavior, along with non-significant but marked reductions in issues with daytime sleepiness. Results suggest the merit of specialized fitness programs and emphasize the need for larger and more rigorous research studies on this topic.

10.
Infant Behav Dev ; 67: 101721, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35504051

RESUMEN

BACKGROUND: Executive functions (EFs) and restricted and repetitive behaviors (RRBs) have been studied mainly in older individuals with autism spectrum disorder (ASD), while little is known about the relationship between EFs and RRBs in toddlers. AIMS: The purpose of this study was to investigate the relationship between EFs and RRBs of toddlers with ASD symptoms. In addition, we tested whether EFs were predictive of RRBs in toddlers. METHODS: Cross-sectional data were collected from parents of forty-five toddlers under 36 months old. The modified checklist for autism in toddlers (M-CHAT), the Gilliam autism rating scale (GARS-2), the behavior rating inventory of executive functioning-preschool version (BRIEF-P), and the repetitive behavior scale- revised (RBS-R) administered to parents. RESULTS: We found significant associations between EFs and (1) stereotyped behaviors, (2) self-injurious behaviors, (3) ritualistic behaviors, (4) sameness behaviors, (5) restricted behaviors, (6) compulsive behaviors, and (7) repetitive behaviors total score. Increases in EFs differences predicted an increase in RRBs. CONCLUSIONS: Our results indicate a link between EFs and RRBs. Future research on RRBs in ASD may benefit from focusing on specific EFs rather than general categories.


Asunto(s)
Trastorno del Espectro Autista , Anciano , Trastorno del Espectro Autista/diagnóstico , Preescolar , Cognición , Estudios Transversales , Función Ejecutiva , Humanos , Lactante , Conducta Estereotipada
11.
Front Psychiatry ; 13: 874090, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35401246

RESUMEN

Introduction: Autism spectrum disorder (ASD) is a lifelong condition. Autistic symptoms can persist into adulthood. Studies have reported that autistic symptoms generally improved in adulthood, especially restricted and repetitive behaviors and interests (RRBIs). We explored brain networks that are related to differences in RRBIs in individuals with ASDs among different ages. Methods: We enrolled 147 ASD patients from the Autism Brain Imaging Data Exchange II (ABIDEII) database. The participants were divided into four age groups: children (6-9 years old), younger adolescents (10-14 years old), older adolescents (15-19 years old), and adults (≥20 years old). RRBIs were evaluated using the Repetitive Behaviors Scale-Revised 6. We first explored differences in RRBIs between age groups using the Kruskal-Wallis test. Associations between improvements in RRBIs and age were analyzed using a general linear model. We then analyzed RRBIs associated functional connectivity (FC) links using the network-based statistic method by adjusting covariates. The association of the identified FC with age group, and mediation function of the FC on the association of age-group and RRBI were further analyzed. Results: Most subtypes of RRBIs improved with age, especially stereotyped behaviors, ritualistic behaviors, and restricted behaviors (p = 0.012, 0.014, and 0.012, respectively). Results showed that 12 FC links were closely related to overall RRBIs, 17 FC links were related to stereotyped behaviors. Among the identified 29 FC links, 15 were negatively related to age-groups. The mostly reported core brain regions included superior occipital gyrus, insula, rolandic operculum, angular, caudate, and cingulum. The decrease in FC between the left superior occipital lobe and right angular (effect = -0.125 and -0.693, respectively) and between the left insula and left caudate (effect = -0.116 and -0.664, respectively) might contribute to improvements in multiple RRBIs with age. Conclusion: We identified improvements in RRBIs with age in ASD patients, especially stereotyped behaviors, ritualistic behaviors, and restricted behaviors. The decrease in FC between left superior occipital lobe and right angular and between left insula and left caudate might contribute to these improvements. Our findings improve our understanding of the pathogenesis of RRBIs and suggest potential intervention targets to improve prognosis in adulthood.

12.
Soa Chongsonyon Chongsin Uihak ; 33(2): 35-40, 2022 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-35418801

RESUMEN

Objectives: Restricted and repetitive behaviors (RRBs) are a core symptom in the diagnosis of autism spectrum disorder (ASD). The complexity of behavioral patterns has called for the creation of phenotypically homogeneous subgroups among individuals with ASD. The purpose of this study was 1) to investigate the different types of RRBs and 2) to explore whether subgroups created by RRBs would show unique levels of functioning in toddlers and young children with ASD. Methods: A total of 313 children with ASD, aged 12-42 months were included in the analysis. The Autism Diagnostic Interview-Revised was used to obtain information on the different types of RRBs by grouping 15 items into six categories. The Vineland Adaptive Behaviors Scale, a parent-reported questionnaire, was used to measure adaptive functioning. A portion of the children were analyzed separately for verbal-related RRBs based on their expressive language level. Two-step cluster analysis using RRB groups as features was used to create subgroups. Analysis of covariance while covarying for age and language was performed to explore the clinical characteristics of each cluster group. Results: Sensory-related RRBs were the most prevalent, followed by circumscribed interests, interest in objects, resistance to change, and repetitive body movements. A subset of the children was analyzed separately to explore verbal-related RRBs. Four cluster groups were created based on reported RRBs, with multiple RRBs demonstrating significant delays in adaptive functioning. Conclusion: Heterogeneity of RRBs emerges at a young age. The different patterns of RRBs can be used as valuable information to determine developmental trajectories with better implications for treatment approaches.

13.
Mol Autism ; 13(1): 10, 2022 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-35246237

RESUMEN

BACKGROUND: There is still no approved medication for the core symptoms of autism spectrum disorder (ASD). This network meta-analysis investigated pharmacological and dietary-supplement treatments for ASD. METHODS: We searched for randomized-controlled-trials (RCTs) with a minimum duration of seven days in ClinicalTrials.gov, EMBASE, MEDLINE, PsycINFO, WHO-ICTRP (from inception up to July 8, 2018), CENTRAL and PubMed (up to November 3, 2021). The co-primary outcomes were core symptoms (social-communication difficulties-SCD, repetitive behaviors-RB, overall core symptoms-OCS) measured by validated scales and standardized-mean-differences (SMDs). Associated symptoms, e.g., irritability/aggression and attention-deficit/hyperactivity disorder (ADHD) symptoms, dropouts and important side-effects, were investigated as secondary outcomes. Studies in children/adolescents and adults were analyzed separately in random-effects pairwise and network meta-analyses. RESULTS: We analyzed data for 41 drugs and 17 dietary-supplements, from 125 RCTs (n = 7450 participants) in children/adolescents and 18 RCTs (n = 1104) in adults. The following medications could improve at least one core symptom domain in comparison with placebo: aripiprazole (k = 6 studies in analysis, SCD: SMD = 0.27 95% CI [0.09, 0.44], RB: 0.48 [0.26, 0.70]), atomoxetine (k = 3, RB:0.49 [0.18, 0.80]), bumetanide (k = 4, RB: 0.35 [0.09, 0.62], OCS: 0.61 [0.31, 0.91]), and risperidone (k = 4, SCM: 0.31 [0.06, 0.55], RB: 0.60 [0.29, 0.90]; k = 3, OCS: 1.18 [0.75, 1.61]) in children/adolescents; fluoxetine (k = 1, RB: 1.20 [0.45, 1.96]), fluvoxamine (k = 1, RB: 1.04 [0.27, 1.81]), oxytocin (k = 6, RB:0.41 [0.16, 0.66]) and risperidone (k = 1, RB: 0.97 [0.21,1.74]) in adults. There were some indications of improvement by carnosine, haloperidol, folinic acid, guanfacine, omega-3-fatty-acids, probiotics, sulforaphane, tideglusib and valproate, yet imprecise and not robust. Confidence in these estimates was very low or low, except moderate for oxytocin. Medications differed substantially in improving associated symptoms, and in their side-effect profiles. LIMITATIONS: Most of the studies were inadequately powered (sample sizes of 20-80 participants), with short duration (8-13 weeks), and about a third focused on associated symptoms. Networks were mainly star-shaped, and there were indications of reporting bias. There was no optimal rating scale measuring change in core symptoms. CONCLUSIONS: Some medications could improve core symptoms, although this could be likely secondary to the improvement of associated symptoms. Evidence on their efficacy and safety is preliminary; therefore, routine prescription of medications for the core symptoms cannot be recommended. Trial registration PROSPERO-ID CRD42019125317.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Adolescente , Adulto , Trastorno del Espectro Autista/tratamiento farmacológico , Niño , Humanos , Metaanálisis en Red , Oxitocina/uso terapéutico , Risperidona/uso terapéutico
14.
Front Hum Neurosci ; 16: 1052604, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36895201

RESUMEN

The pupil light reflex (PLR), a marker of neuronal response to light, is a well-studied index of autonomic functioning. Studies have found that autistic children and adults have slower and weaker PLR responses compared to non-autistic peers, suggesting lower autonomic control. Altered autonomic control has also been associated with increased sensory difficulties in autistic children. With autistic traits varying in the general population, recent studies have begun to examine similar questions in non-autistic individuals. The current study looked at the PLR in relation to individual differences in autistic traits in non-autistic children and adults, asking how differences in the PLR could lead to variation in autistic traits, and how this might change across development. Children and adults completed a PLR task as a measure of sensitivity to light and autonomic response. Results showed that, in adults, increased levels of restricted and repetitive behaviors (RRB) were associated with a weaker and slower PLR. However, in children, PLR responses were not associated with autistic traits. Differences in PLR were also found across age groups, with adults showing smaller baseline pupil diameter and stronger PLR constriction as compared with children. The current study expanded on past work to examine the PLR and autistic traits in non-autistic children and adults, and the relevance of these findings to sensory processing difficulties is discussed. Future studies should continue to examine the neural pathways that might underlie the links between sensory processing and challenging behaviors.

15.
Genes (Basel) ; 12(12)2021 12 20.
Artículo en Inglés | MEDLINE | ID: mdl-34946972

RESUMEN

The neuroanatomy of autism spectrum disorder (ASD) shows highly heterogeneous developmental trajectories across individuals. Mapping atypical brain development onto clinical phenotypes, and establishing their molecular underpinnings, is therefore crucial for patient stratification and subtyping. In this longitudinal study we examined intra- and inter-individual differences in the developmental trajectory of cortical thickness (CT) in childhood and adolescence, and their genomic underpinnings, in 33 individuals with ASD and 37 typically developing controls (aged 11-18 years). Moreover, we aimed to link regional atypical CT development to intra-individual variations in restricted and repetitive behavior (RRB) over a two-year time period. Individuals with ASD showed significantly reduced cortical thinning in several of the brain regions functionally related to wider autism symptoms and traits (e.g., fronto-temporal and cingulate cortices). The spatial patterns of the neuroanatomical differences in CT were enriched for genes known to be associated with ASD at a genetic and transcriptomic level. Further, intra-individual differences in CT correlated with within-subject variability in the severity of RRBs. Our findings represent an important step towards characterizing the neuroanatomical underpinnings of ASD across development based upon measures of CT. Moreover, our findings provide important novel insights into the link between microscopic and macroscopic pathology in ASD, as well as their relationship with different clinical ASD phenotypes.


Asunto(s)
Trastorno del Espectro Autista/diagnóstico por imagen , Trastorno del Espectro Autista/psicología , Corteza Cerebral/patología , Interpretación de Imagen Radiográfica Asistida por Computador/métodos , Adolescente , Trastorno del Espectro Autista/genética , Trastorno del Espectro Autista/patología , Estudios de Casos y Controles , Corteza Cerebral/diagnóstico por imagen , Niño , Femenino , Perfilación de la Expresión Génica , Redes Reguladoras de Genes , Humanos , Estudios Longitudinales , Imagen por Resonancia Magnética , Masculino
16.
Cell ; 184(24): 5916-5931.e17, 2021 11 24.
Artículo en Inglés | MEDLINE | ID: mdl-34767757

RESUMEN

There is increasing interest in the potential contribution of the gut microbiome to autism spectrum disorder (ASD). However, previous studies have been underpowered and have not been designed to address potential confounding factors in a comprehensive way. We performed a large autism stool metagenomics study (n = 247) based on participants from the Australian Autism Biobank and the Queensland Twin Adolescent Brain project. We found negligible direct associations between ASD diagnosis and the gut microbiome. Instead, our data support a model whereby ASD-related restricted interests are associated with less-diverse diet, and in turn reduced microbial taxonomic diversity and looser stool consistency. In contrast to ASD diagnosis, our dataset was well powered to detect microbiome associations with traits such as age, dietary intake, and stool consistency. Overall, microbiome differences in ASD may reflect dietary preferences that relate to diagnostic features, and we caution against claims that the microbiome has a driving role in ASD.


Asunto(s)
Trastorno Autístico/microbiología , Conducta Alimentaria , Microbioma Gastrointestinal , Adolescente , Factores de Edad , Trastorno Autístico/diagnóstico , Conducta , Niño , Preescolar , Heces/microbiología , Femenino , Humanos , Masculino , Fenotipo , Filogenia , Especificidad de la Especie
17.
Front Psychiatry ; 12: 737890, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34658971

RESUMEN

The Rapid Interactive screening Test for Autism in Toddlers (RITA-T) is a fast and inexpensive early screening measure for autism spectrum disorder (ASD) that was tested previously in children 18-36 months-old; the current validation study compared the RITA-T with the Autism Diagnostic Observation Schedule™ Second Edition (ADOS-2). The hypothesis is to validate the RITA-T with comparison to the ADOS-2. Thirty-five individuals (18-84 months-old) identified as at risk for ASD received the RITA-T and the ADOS-2 during a single visit. Participants were split into two age groups and both whole-group and sub-group data analysis were conducted. With all participants, RITA-T scores correlated significantly with ADOS-2 total scores (P < 0.001), social affect (SA) sub-scores (P < 0.001), and restrictive and repetitive behavior (RRB) sub-scores (P < 0.05). Similarly, ADOS-2 total and SA scores were significantly correlated in both age groups, while the RRB sub-score was only significant in females (P < 0.05). Lastly, correlations using subgroups based on ethnicity were only significant in the minority ("Other") group for ADOS-2 total scores and in the Asian group for SA sub-scores (P < 0.05). Our receiver operating characteristic analysis showed that the optimal cut-off score of the RITA-T was consistently at 14, with a sensitivity of 81% and a specificity of 89% in the combined age group with the ADOS-2 and with a sensitivity 74% and specificity 50% with the DSM-5; The area under the curve was 0.84 (95%CI: 0.69-0.99) for ASD classified by ADOS-2 and 0.89 (95%CI: 0.79-0.99) for ASD diagnosed by DSM-5. The RITA-T performed similarly to the ADOS-2 when both were administered in a single visit. Significant correlations between the measures help validate the potential usefulness of the RITA-T as a rapid early screening measure of ASD. This study helps to show that the RITA-T may be used in a larger age range than originally reported and in different ethnic groups. The study involves human participants and was reviewed and approved by the Institutional Review Board (IRB) of Massachusetts General Hospital (MGH, 2017P0000857).

18.
Netw Neurosci ; 5(2): 295-321, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34189366

RESUMEN

The intrinsic function of the human brain is dynamic, giving rise to numerous behavioral subtypes that fluctuate distinctively at multiple timescales. One of the key dynamical processes that takes place in the brain is the interaction between core-periphery brain regions, which undergoes constant fluctuations associated with developmental time frames. Core-periphery dynamical changes associated with macroscale brain network dynamics span multiple timescales and may lead to atypical behavior and clinical symptoms. For example, recent evidence suggests that brain regions with shorter intrinsic timescales are located at the periphery of brain networks (e.g., sensorimotor hand, face areas) and are implicated in perception and movement. On the contrary, brain regions with longer timescales are core hub regions. These hubs are important for regulating interactions between the brain and the body during self-related cognition and emotion. In this review, we summarize a large body of converging evidence derived from time-resolved fMRI studies in autism to characterize atypical core-periphery brain dynamics and how they relate to core and contextual sensory and cognitive profiles.

19.
Autism Res ; 14(6): 1163-1185, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33410263

RESUMEN

There is a consensus on the centrality of restricted and repetitive behaviors (RRBs) in the diagnosis of Autism Spectrum Disorder (ASD), yet the origins of these behaviors are still debated. We reconsider whether executive function (EF) accounts of RRBs should be revisited. EF deficits and high levels of RRBs are often pronounced in individuals with ASD and are also prevalent in young typically developing children. Despite this, the evidence is mixed, and there has been no systematic attempt to evaluate the relationship across studies and between task batteries. We examine recent evidence, and in three highly powered random-effects analyses (N = 2964), examine the strength of the association between RRB levels and performance on set shifting, inhibitory control, and parental-report based EF batteries. The analyses confirm significant associations between high levels of the behaviors and poor EF skills. Moreover, the associations remained stable across typical development and in individuals with ASD and across different types of EF measures. These meta-analyses consolidate recent evidence identifying that cognitive mechanisms correlate with high RRBs that are seen in individuals with ASD, as well as in typical development. We propose that the EF account may be critical for guiding future interventions in ASD research. LAY SUMMARY: Restricted and repetitive behaviors (RRBs) are diagnostic criteria for Autism yet also common in typical development, and if they persist over time some can have a negative impact on learning and social acceptance. The present meta-analyses found that high levels of RRBs related to poor performance on set-shifting and inhibitory control tasks, as well as high ratings on parental report scales. Future studies should create interventions that aim to improve these skills as they may help manage challenging RRBs.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Niño , Cognición , Función Ejecutiva , Humanos , Metaanálisis como Asunto , Padres
20.
J Autism Dev Disord ; 51(10): 3456-3468, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33387232

RESUMEN

Prior studies investigating restricted and repetitive behavior (RRB) subtypes within autism spectrum disorder (ASD) have found varied factor structures for symptom groupings, in part, due to variation in symptom measurement and broad sample age ranges. This study examined RRBs among 827 preschool-age children, ages 35 to 71 months, through an exploratory factor analysis of RRB items from the Autism Diagnostic Interview-Revised (ADI-R) collected through the Study to Explore Early Development. The factor structures of RRBs among children with confirmed ASD versus those with non-autism developmental concerns were qualitatively compared. Correlations between RRB factors and participant characteristics were examined in the ASD group. Three conceptually well-defined factors characterized as repetitive sensorimotor behaviors (RSMB), insistence on sameness (IS), and a novel stereotyped speech (SPEECH) factor emerged for the ASD group only. Distinct factors were supported by different clinical correlates. Findings have implications for improving differential diagnosis and understanding of ASD symptomatology in this age range.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Niño , Preescolar , Cognición , Análisis Factorial , Humanos , Conducta Estereotipada
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