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.

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 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 Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders

2020 ◽  
Author(s):  
Liliana Rojas-Charry ◽  
Leonardo Nardi ◽  
Axel Methner ◽  
Michael J. Schmeisser
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorders ◽  
Digeorge Syndrome ◽  
Clinical Presentation ◽  
Current Knowledge ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Pathogenic Factors ◽  
Mitochondrial Functions

AbstractAutism spectrum disorder (ASD) is a neurodevelopmental condition primarily characterized by an impairment of social interaction combined with the occurrence of repetitive behaviors. ASD starts in childhood and prevails across the lifespan. The variability of its clinical presentation renders early diagnosis difficult. Mutations in synaptic genes and alterations of mitochondrial functions are considered important underlying pathogenic factors, but it is obvious that we are far from a comprehensive understanding of ASD pathophysiology. At the synapse, mitochondria perform diverse functions, which are clearly not limited to their classical role as energy providers. Here, we review the current knowledge about mitochondria at the synapse and summarize the mitochondrial disturbances found in mouse models of ASD and other ASD-related neurodevelopmental disorders, like DiGeorge syndrome, Rett syndrome, Tuberous sclerosis complex, and Down syndrome.

scholarly journals Core-Symptom-Defined Cortical Gyrification Differences in Autism Spectrum Disorder

2021 ◽  
Vol 12 ◽  
Author(s):  
Mingmin Ning ◽  
Cuicui Li ◽  
Lei Gao ◽  
Jingyi Fan
Keyword(s):  
Autism Spectrum Disorder ◽  
Brain Imaging ◽  
Data Exchange ◽  
Developmental Trajectories ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Cortical Folding ◽  
The Core ◽  
Core Symptom

Autism spectrum disorder (ASD) is a heterogeneous disease that is characterized by abnormalities in social communication and interaction as well as repetitive behaviors and restricted interests. Structural brain imaging has identified significant cortical folding alterations in ASD; however, relatively less known is whether the core symptoms are related to neuroanatomical differences. In this study, we aimed to explore core-symptom-anchored gyrification alterations and their developmental trajectories in ASD. We measured the cortical vertex-wise gyrification index (GI) in 321 patients with ASD (aged 7–39 years) and 350 typically developing (TD) subjects (aged 6–33 years) across 8 sites from the Autism Brain Imaging Data Exchange I (ABIDE I) repository and a longitudinal sample (14 ASD and 7 TD, aged 9–14 years in baseline and 12–18 years in follow-up) from ABIDE II. Compared with TD, the general ASD patients exhibited a mixed pattern of both hypo- and hyper- and different developmental trajectories of gyrification. By parsing the ASD patients into three subgroups based on the subscores of the Autism Diagnostic Interview—Revised (ADI-R) scale, we identified core-symptom-specific alterations in the reciprocal social interaction (RSI), communication abnormalities (CA), and restricted, repetitive, and stereotyped patterns of behavior (RRSB) subgroups. We also showed atypical gyrification patterns and developmental trajectories in the subgroups. Furthermore, we conducted a meta-analysis to locate the core-symptom-anchored brain regions (circuits). In summary, the current study shows that ASD is associated with abnormal cortical folding patterns. Core-symptom-based classification can find more subtle changes in gyrification. These results suggest that cortical folding pattern encodes changes in symptom dimensions, which promotes the understanding of neuroanatomical basis, and clinical utility in ASD.

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.

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.

Specialized Diet Therapies: Exploration for Improving Behavior in Autism Spectrum Disorder (ASD)

2020 ◽  
Vol 27 (40) ◽  
pp. 6771-6786
Author(s):  
Geir Bjørklund ◽  
Nagwa Abdel Meguid ◽  
Maryam Dadar ◽  
Lyudmila Pivina ◽  
Joanna Kałużna-Czaplińska ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorder ◽  
Caloric Intake ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Nutritional Deficiencies ◽  
Childhood And Adolescence ◽  
Restricted Interests ◽  
Balanced Diet ◽  
The Individual

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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