scholarly journals The Causes of Individual Differences in Autism Spectrum Disorder

2021 ◽  
Vol 5 (5) ◽  
pp. 86-89
Author(s):  
Yufei Jin

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.

2018 ◽  
Author(s):  
Annelies van’t Westeinde ◽  
Élodie Cauvet ◽  
Roberto Toro ◽  
Ralf Kuja-Halkola ◽  
Janina Neufeld ◽  
...  

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.


Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 28
Author(s):  
Iris W. Riemersma ◽  
Robbert Havekes ◽  
Martien J. H. Kas

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.


PRILOZI ◽  
2020 ◽  
Vol 41 (2) ◽  
pp. 81-88
Author(s):  
Tatjana Zorcec ◽  
Nada Pop-Jordanova

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.


Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 2024
Author(s):  
Valentina Bieneck ◽  
Anke Bletsch ◽  
Caroline Mann ◽  
Tim Schäfer ◽  
Hanna Seelemeyer ◽  
...  

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.


Autism ◽  
2019 ◽  
Vol 23 (8) ◽  
pp. 2043-2054 ◽  
Author(s):  
Leslie A Rescorla ◽  
Courtney Given ◽  
Siobhan Glynn ◽  
Masha Y Ivanova ◽  
Thomas M Achenbach

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.


Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 2068
Author(s):  
Antonio Narzisi ◽  
Gabriele Masi ◽  
Enzo Grossi

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 [...]


2021 ◽  
Author(s):  
Jurgen Germann ◽  
Flavia Venetucci Gouveia ◽  
Helena Brentani ◽  
Saashi A Bedford ◽  
Stephanie Tullo ◽  
...  

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.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jürgen Germann ◽  
Flavia Venetucci Gouveia ◽  
Helena Brentani ◽  
Saashi A. Bedford ◽  
Stephanie Tullo ◽  
...  

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.


2020 ◽  
Vol 27 (40) ◽  
pp. 6771-6786
Author(s):  
Geir Bjørklund ◽  
Nagwa Abdel Meguid ◽  
Maryam Dadar ◽  
Lyudmila Pivina ◽  
Joanna Kałużna-Czaplińska ◽  
...  

As a major neurodevelopmental disorder, Autism Spectrum Disorder (ASD) encompasses deficits in communication and repetitive and restricted interests or behaviors in childhood and adolescence. Its etiology may come from either a genetic, epigenetic, neurological, hormonal, or an environmental cause, generating pathways that often altogether play a synergistic role in the development of ASD pathogenesis. Furthermore, the metabolic origin of ASD should be important as well. A balanced diet consisting of the essential and special nutrients, alongside the recommended caloric intake, is highly recommended to promote growth and development that withstand the physiologic and behavioral challenges experienced by ASD children. In this review paper, we evaluated many studies that show a relationship between ASD and diet to develop a better understanding of the specific effects of the overall diet and the individual nutrients required for this population. This review will add a comprehensive update of knowledge in the field and shed light on the possible nutritional deficiencies, metabolic impairments (particularly in the gut microbiome), and malnutrition in individuals with ASD, which should be recognized in order to maintain the improved socio-behavioral habit and physical health.


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