scholarly journals Involvement of the habenula in the pathophysiology of autism spectrum disorder

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jürgen Germann ◽  
Flavia Venetucci Gouveia ◽  
Helena Brentani ◽  
Saashi A. Bedford ◽  
Stephanie Tullo ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Human Subjects ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Support Vector ◽  
Social Responsiveness ◽  
Restricted Interests ◽  
Machine Modeling ◽  
Age Range

AbstractThe habenula is a small epithalamic structure with widespread connections to multiple cortical, subcortical and brainstem regions. It has been identified as the central structure modulating the reward value of social interactions, behavioral adaptation, sensory integration and circadian rhythm. Autism spectrum disorder (ASD) is characterized by social communication deficits, restricted interests, repetitive behaviors, and is frequently associated with altered sensory perception and mood and sleep disorders. The habenula is implicated in all these behaviors and results of preclinical studies suggest a possible involvement of the habenula in the pathophysiology of this disorder. Using anatomical magnetic resonance imaging and automated segmentation we show that the habenula is significantly enlarged in ASD subjects compared to controls across the entire age range studied (6–30 years). No differences were observed between sexes. Furthermore, support-vector machine modeling classified ASD with 85% accuracy (model using habenula volume, age and sex) and 64% accuracy in cross validation. The Social Responsiveness Scale (SRS) significantly differed between groups, however, it was not related to individual habenula volume. The present study is the first to provide evidence in human subjects of an involvement of the habenula in the pathophysiology of ASD.

scholarly journals Sex differences in brain structure: An autism twin study on restricted and repetitive behaviors

2018 ◽  
Author(s):  
Annelies van’t Westeinde ◽  
Élodie Cauvet ◽  
Roberto Toro ◽  
Ralf Kuja-Halkola ◽  
Janina Neufeld ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Sex Differences ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Brain Anatomy ◽  
Social Responsiveness ◽  
Autism Symptoms ◽  
Twin Design ◽  
Restricted And Repetitive Behaviors

AbstractFemales with autism spectrum disorder have been reported to exhibit fewer and less severe restricted and repetitive behaviors and interests compared to males. This difference might indicate sex specific alterations of brain networks involved in autism symptom domains, especially within cortico-striatal and sensory integration networks. This study used a well-controlled twin design to examine sex differences in brain anatomy in relation to repetitive behaviors. In 75 twin pairs (n=150, 62 females, 88 males) enriched for autism spectrum disorder (n=32), and other neurodevelopmental disorders (n =32), we explored the association of restricted and repetitive behaviors and interests – operationalized by the Autism Diagnostic Interview-Revised (C domain) and the Social Responsiveness Scale-2 (Restricted Interests and Repetitive Behavior subscale), with cortical volume, surface area and thickness of neocortical, sub-cortical and cerebellar networks. Cotwin control analyses revealed within-pair associations between RRBI symptoms and the right intraparietal sulcus and right orbital gyrus in females only. These findings endorse the importance of investigating sex differences in the neurobiology of autism symptoms, and indicate different etiological pathways underlying restricted and repetitive behaviors and interests in females and males.

scholarly journals Spatial and Temporal Gene Function Studies in Rodents: Towards Gene-Based Therapies for Autism Spectrum Disorder

Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 28
Author(s):  
Iris W. Riemersma ◽  
Robbert Havekes ◽  
Martien J. H. Kas
Keyword(s):  
Autism Spectrum Disorder ◽  
Gene Function ◽  
Current Knowledge ◽  
Developmental Trajectories ◽  
Autism Spectrum ◽  
Synaptic Function ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Restricted Interests ◽  
Highly Correlated

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that is characterized by differences in social interaction, repetitive behaviors, restricted interests, and sensory differences beginning early in life. Especially sensory symptoms are highly correlated with the severity of other behavioral differences. ASD is a highly heterogeneous condition on multiple levels, including clinical presentation, genetics, and developmental trajectories. Over a thousand genes have been implicated in ASD. This has facilitated the generation of more than two hundred genetic mouse models that are contributing to understanding the biological underpinnings of ASD. Since the first symptoms already arise during early life, it is especially important to identify both spatial and temporal gene functions in relation to the ASD phenotype. To further decompose the heterogeneity, ASD-related genes can be divided into different subgroups based on common functions, such as genes involved in synaptic function. Furthermore, finding common biological processes that are modulated by this subgroup of genes is essential for possible patient stratification and the development of personalized early treatments. Here, we review the current knowledge on behavioral rodent models of synaptic dysfunction by focusing on behavioral phenotypes, spatial and temporal gene function, and molecular targets that could lead to new targeted gene-based therapy.

scholarly journals Main Needs and Challenges of Parents of Children with Autism Spectrum Disorder

PRILOZI ◽  
2020 ◽  
Vol 41 (2) ◽  
pp. 81-88
Author(s):  
Tatjana Zorcec ◽  
Nada Pop-Jordanova
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorders ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Service Encounters ◽  
Restricted Interests ◽  
School Work ◽  
Heavy Burden ◽  
Adults With Asd

AbstractAutism spectrum disorder (ASD) comprises a group of complex lifelong neurodevelopmental disorders, characterized with symptoms related to the difficulty of communication and interaction with other people, as well as restricted interests and repetitive behaviors. These symptoms affects the person’s ability to function properly in school, work, and other areas of life.For better understanding the needs and challenges of families the survey developed by Autism Speaks in collaboration with the National Coordinators for Autism from nine Balkan countries was established. The aim of this research is to obtain an overview of some important data for children with some form of autistic disorder.The same questionnaire was used in two different periods of time (during 2015 and at the beginning of 2020) including samples of 60 and 140 parents respectively.The questionnaire comprises 57 questions in the following four domains: demographic characteristics, index child characteristics, service encounters and parent/caregiver perceptions. Results are compared and discussed.The survey results underscore that parents and families of children with ASD in our country carry a heavy burden. They face significant financial difficulties and need improved services from the health, educational and social sectors.It was concluded that there is a critical need to strengthen national capacity in caring for children, young people and adults with ASD and other neurodevelopmental disorders.

scholarly journals Functional connectivity-based subtypes of individuals with and without autism spectrum disorder

2019 ◽  
Vol 3 (2) ◽  
pp. 344-362 ◽  
Author(s):  
Amanda K. Easson ◽  
Zainab Fatima ◽  
Anthony R. McIntosh
Keyword(s):  
Autism Spectrum Disorder ◽  
Functional Connectivity ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Social Responsiveness ◽  
Multivariate Statistical ◽  
Subtype A ◽  
Brain Behavior

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder, characterized by impairments in social communication and restricted, repetitive behaviors. Neuroimaging studies have shown complex patterns and functional connectivity (FC) in ASD, with no clear consensus on brain-behavior relationships or shared patterns of FC with typically developing controls. Here, we used a dimensional approach to characterize two distinct clusters of FC patterns across both ASD participants and controls using k-means clustering. Using multivariate statistical analyses, a categorical approach was taken to characterize differences in FC between subtypes and between diagnostic groups. One subtype was defined by increased FC within resting-state networks and decreased FC across networks compared with the other subtype. A separate FC pattern distinguished ASD from controls, particularly within default mode, cingulo-opercular, sensorimotor, and occipital networks. There was no significant interaction between subtypes and diagnostic groups. Finally, a dimensional analysis of FC patterns with behavioral measures of IQ, social responsiveness, and ASD severity showed unique brain-behavior relations in each subtype and a continuum of brain-behavior relations from ASD to controls within one subtype. These results demonstrate that distinct clusters of FC patterns exist across ASD and controls, and that FC subtypes can reveal unique information about brain-behavior relationships.

International comparisons of autism spectrum disorder behaviors in preschoolers rated by parents and caregivers/teachers

Autism ◽  
2019 ◽  
Vol 23 (8) ◽  
pp. 2043-2054 ◽  
Author(s):  
Leslie A Rescorla ◽  
Courtney Given ◽  
Siobhan Glynn ◽  
Masha Y Ivanova ◽  
Thomas M Achenbach
Keyword(s):  
Autism Spectrum Disorder ◽  
Child Behavior Checklist ◽  
International Comparisons ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Restricted Interests ◽  
Diagnostic And Statistical Manual ◽  
Base Rates ◽  
Teacher Report Form

This study tested international similarities and differences in scores on a scale comprising 12 items identified by international mental health experts as being very consistent with the Diagnostic and Statistical Manual of Mental Disorders (5th ed.) category of autism spectrum disorder. Participants were 19,850 preschoolers in 24 societies rated by parents on the Child Behavior Checklist for Ages 1½–5; 10,521 preschoolers from 15 societies rated by caregivers/teachers on the Caregiver–Teacher Report Form, and 7380 children from 13 societies rated by both types of informant. Rank ordering of the items with respect to base rates and mean ratings was more similar across societies for parent ratings than caregiver/teacher ratings, especially with respect to the items tapping restricted interests and repetitive behaviors. Items 80. Strange behavior; 63. Repeatedly rocks head or body; 67. Seems unresponsive to affection; and 98. Withdrawn, doesn’t get involved with others had low base rates in these population samples across societies and types of informants, suggesting that they may be particularly discriminating for identifying autism spectrum disorder in young children. Cross-informant agreement was stronger for the items tapping social communication and interaction problems than restricted interests and repetitive behaviors. The findings support the feasibility of international use of the scale for autism spectrum disorder screening in population samples.

scholarly journals Using the big data approach to clarify the structure of restricted and repetitive behaviors across the most commonly used autism spectrum disorder measures

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Mirko Uljarević ◽  
Booil Jo ◽  
Thomas W. Frazier ◽  
Lawrence Scahill ◽  
Eric A. Youngstrom ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Structural Equation ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Equation Modeling ◽  
Social Responsiveness ◽  
Insistence On Sameness ◽  
Restricted And Repetitive Behaviors ◽  
The Social

Abstract Background Restricted and repetitive behaviors (RRB) in autism spectrum disorder (ASD) encompass several distinct domains. However, commonly used general ASD measures provide broad RRB scores rather than assessing separate RRB domains. The main objective of the current investigation was to conduct a psychometric evaluation of the ability of the Social Responsiveness Scale (SRS-2), the Social Communication Questionnaire (SCQ), the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) to capture different RRB constructs. Methods Exploratory Structural Equation Modeling (ESEM) was conducted using individual item-level data from the SRS-2, SCQ, ADI-R and the ADOS. Data were obtained from five existing publicly available databases. For the SRS-2, the final sample consisted of N = 16,761 individuals (Mage = 9.43, SD = 3.73; 18.5% female); for the SCQ, of N = 15,840 (Mage = 7.99, SD = 4.06; 18.1% female); for the ADI-R, of N = 8985 (Mage = 8.86, SD = 4.68; 19.4% female); and for the ADOS, of N = 6314 (Mage = 12.29, SD = 6.79; 17.7% female). Results The three-factor structure provided the most optimal and interpretable fit to data for all measures (comparative fit index ≥ .983, Tucker Lewis index ≥ .966, root mean square error of approximation ≤ .028). Repetitive-motor behaviors, insistence on sameness and unusual or circumscribed interests factors emerged across all instruments. No acceptable fit was identified for the ADOS. Limitations The five datasets used here afforded a large as well as wide distribution of the RRB item scores. However, measures used for establishing convergent and divergent validity were only available for a portion of the sample. Conclusions Reported findings offer promise for capturing important RRB domains using general ASD measures and highlight the need for measurement development.

scholarly journals The Causes of Individual Differences in Autism Spectrum Disorder

2021 ◽  
Vol 5 (5) ◽  
pp. 86-89
Author(s):  
Yufei Jin
Keyword(s):  
Autism Spectrum Disorder ◽  
Individual Differences ◽  
Study Design ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Restricted Interests ◽  
Twin Design ◽  
Classical Twin Design ◽  
Clinical Profiles

Autism spectrum disorder (ASD) is characterized by various symptoms including impaired social interactions, unusually repetitive behaviors, and highly restricted interests etc. People with ASD differ significantly on their clinical profiles and the causes of such individual differences are not yet fully understood. The present paper provides an overview of the causes of individual differences in ASD from three different perspectives: genetic, environmental, and neurobiological perspectives. The present paper also describes one study design in detail within each perspective (i.e., classical twin design, epidemiological case-control design, and magnetic resonance imaging), and explains how each study design is informative about the causes of ASD.

scholarly journals Nutrition and Autism Spectrum Disorder: Between False Myths and Real Research-Based Opportunities

Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 2068
Author(s):  
Antonio Narzisi ◽  
Gabriele Masi ◽  
Enzo Grossi
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Communication ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Restricted Interests

Autism Spectrum Disorder (ASD) is a multicomplex disorder characterized by an umbrella of specific issues in the areas of social communication, restricted interests, and repetitive behaviors [...]

scholarly journals Involvement of the habenula in the pathophysiology of autism spectrum disorder.

2021 ◽  
Author(s):  
Jurgen Germann ◽  
Flavia Venetucci Gouveia ◽  
Helena Brentani ◽  
Saashi A Bedford ◽  
Stephanie Tullo ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Interactions ◽  
Social Communication ◽  
Sensory Integration ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Resonance Imaging ◽  
Restricted Interests ◽  
Adults With Asd

The habenula is a small epithalamic structure that has rich widespread connections to multiple cortical, subcortical and brainstem regions. It has been identified as the central structure modulating the reward value of social interactions, behavioral adaptation, sensory integration and circadian rhythm. Autism spectrum disorder is characterized by social communication deficits, restricted interests and repetitive behaviors, and frequently associated with altered sensory perception and mood and sleep disorders. The habenula is implicated in all these behaviors and results of preclinical studies suggest a possible involvement of the habenula in the pathophysiology of this disorder. Using anatomical magnetic resonance imaging and automated segmentation we show that the habenula is significantly enlarged in children and adults with ASD compared to age matched controls. The present study is first to provide evidence of the involvement of the Hb in the pathophysiology of ASD.

The Influence of Language Context on Repetitive Speech Use in Children With Autism Spectrum Disorder

2020 ◽  
Vol 29 (1) ◽  
pp. 327-334 ◽  
Author(s):  
Allison Gladfelter ◽  
Cassidy VanZuiden
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Individual Characteristics ◽  
Receptive Vocabulary ◽  
Spectrum Disorder ◽  
School Age Children ◽  
Social Responsiveness ◽  
Contributing Factors ◽  
Children With Asd ◽  
Language Context

Purpose Although repetitive speech is a hallmark characteristic of autism spectrum disorder (ASD), the contributing factors that influence repetitive speech use remain unknown. The purpose of this exploratory study was to determine if the language context impacts the amount and type of repetitive speech produced by children with ASD. Method As part of a broader word-learning study, 11 school-age children with ASD participated in two different language contexts: storytelling and play. Previously collected language samples were transcribed and coded for four types of repetitive speech: immediate echolalia, delayed echolalia, verbal stereotypy, and vocal stereotypy. The rates and proportions of repetitive speech were compared across the two language contexts using Wilcoxon signed-ranks tests. Individual characteristics were further explored using Spearman correlations. Results The children produced lower rates of repetitive speech during the storytelling context than the play-based context. Only immediate echolalia differed between the two contexts based on rate and approached significance based on proportion, with more immediate echolalia produced in the play-based context than in the storytelling context. There were no significant correlations between repetitive speech and measures of social responsiveness, expressive or receptive vocabulary, or nonverbal intelligence. Conclusions The children with ASD produced less immediate echolalia in the storytelling context than in the play-based context. Immediate echolalia use was not related to social skills, vocabulary, or nonverbal IQ scores. These findings offer valuable insights into better understanding repetitive speech use in children with ASD.

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