scholarly journals Zbtb16 regulates social cognitive behaviors and neocortical development

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Noriyoshi Usui ◽  
Stefano Berto ◽  
Ami Konishi ◽  
Makoto Kondo ◽  
Genevieve Konopka ◽  
...  
Keyword(s):  
Social Cognitive ◽  
Neural Progenitor Cell ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Social Impairment ◽  
Developmental Defects ◽  
Cognitive Behaviors ◽  
Btb Domain ◽  
Neocortical Development ◽  
Progenitor Cell Proliferation

AbstractZinc finger and BTB domain containing 16 (ZBTB16) play the roles in the neural progenitor cell proliferation and neuronal differentiation during development, however, how the function of ZBTB16 is involved in brain function and behaviors unknown. Here we show the deletion of Zbtb16 in mice leads to social impairment, repetitive behaviors, risk-taking behaviors, and cognitive impairment. To elucidate the mechanism underlying the behavioral phenotypes, we conducted histological analyses and observed impairments in thinning of neocortical layer 6 (L6) and a reduction of TBR1+ neurons in Zbtb16 KO mice. Furthermore, we found increased dendritic spines and microglia, as well as developmental defects in oligodendrocytes and neocortical myelination in the prefrontal cortex (PFC) of Zbtb16 KO mice. Using genomics approaches, we identified the Zbtb16 transcriptome that includes genes involved in neocortical maturation such as neurogenesis and myelination, and both autism spectrum disorder (ASD) and schizophrenia (SCZ) pathobiology. Co-expression networks further identified Zbtb16-correlated modules that are unique to ASD or SCZ, respectively. Our study provides insight into the novel roles of ZBTB16 in behaviors and neocortical development related to the disorders.

scholarly journals Zbtb16 regulates social cognitive behaviors and neocortical development

2020 ◽  
Author(s):  
Noriyoshi Usui ◽  
Stefano Berto ◽  
Ami Konishi ◽  
Makoto Kondo ◽  
Genevieve Konopka ◽  
...  
Keyword(s):  
Social Cognitive ◽  
Cognitive Disorders ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Social Impairment ◽  
Developmental Defects ◽  
Cognitive Behaviors ◽  
Neocortical Development ◽  
Risk Taking Behaviors

AbstractRecent genetic studies have underscored the pleiotropic effects of single genes to multiple cognitive disorders. Mutations of ZBTB16 are associated with autism spectrum disorder (ASD) and schizophrenia (SCZ), but how the function of ZBTB16 is related to ASD or SCZ remains unknown. Here we show the deletion of Zbtb16 in mice leads to both ASD- and SCZ-like behaviors such as social impairment, repetitive behaviors, risk-taking behaviors, and cognitive impairment. To elucidate the mechanism underlying the behavioral phenotypes, we carried out histological studies and observed impairments in thinning of neocortical layer 6 (L6) and a reduction of TBR1+ neurons in the prefrontal cortex (PFC) of Zbtb16 KO mice. Furthermore, we found increased dendritic spines and microglia as well as developmental defects in oligodendrocytes and neocortical myelination in the PFC of Zbtb16 KO mice. Using a genomics approach, we identified the Zbtb16-transcriptome that includes genes involved in both ASD and SCZ pathophysiology and neocortical maturation such as neurogenesis and myelination. Co-expression networks further identified Zbtb16-correlated modules that are unique to ASD or SCZ respectively. Our study provides insight into the differential role of ZBTB16 in ASD and SCZ.

Young boy with social impairment and repetitive behaviors

2021 ◽  
pp. 1-10
Author(s):  
Sirin Ozdemir ◽  
Craig L. Donnelly
Keyword(s):  
Occupational Therapy ◽  
Speech Therapy ◽  
Behavioral Therapy ◽  
Neurodevelopmental Disorder ◽  
Neuropsychological Testing ◽  
Educational Interventions ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Social Impairment ◽  
Child Psychiatrist

Autism spectrum disorder (ASD) is a lifelong, highly heterogeneous neurodevelopmental disorder characterized by deficits in social communication and interaction as well as restricted, repetitive patterns of behavior, interests, or activities. The symptoms begin early in development but may not become apparent until social demands exceed abilities. The diagnostic assessment should include a medical assessment; evaluation by a clinician familiar with the signs/symptoms of ASD such as a developmental pediatrician, child psychiatrist, or child neurologist; neuropsychological testing to assess for comorbid intellectual disability; a speech and language evaluation; and an occupational therapy evaluation. There is no cure for ASD, but early diagnosis and intervention are associated with better functional outcomes. The treatment approach should be multidisciplinary and may include behavioral therapy, speech therapy, occupational therapy, and educational interventions. Pharmacologic treatment may be used to manage psychiatric comorbidities and maladaptive behaviors.

scholarly journals Correction: Zbtb16 regulates social cognitive behaviors and neocortical development

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Noriyoshi Usui ◽  
Stefano Berto ◽  
Ami Konishi ◽  
Makoto Kondo ◽  
Genevieve Konopka ◽  
...  
Keyword(s):  
Social Cognitive ◽  
Cognitive Behaviors ◽  
Neocortical Development

scholarly journals Hyperactive Behavior and Altered Brain Morphology in Adult Complement C3a Receptor Deficient Mice

2021 ◽  
Vol 12 ◽  
Author(s):  
Andrea Pozo-Rodrigálvarez ◽  
Roosa Ollaranta ◽  
Jenny Skoog ◽  
Milos Pekny ◽  
Marcela Pekna
Keyword(s):  
Neural Plasticity ◽  
Cell Activation ◽  
Short Term Memory ◽  
Neural Progenitor Cell ◽  
Autism Spectrum ◽  
Brain Morphology ◽  
Immune Functions ◽  
Hyperactive Behavior ◽  
Progenitor Cell Proliferation ◽  
Neurodevelopmental Abnormalities

The C3a receptor (C3aR) is a seven trans-membrane domain G-protein coupled receptor with a range of immune modulatory functions. C3aR is activated by the third complement component (C3) activation derived peptide C3a and a neuropeptide TLQP-21. In the central nervous system (CNS), C3aR is expressed by neural progenitors, neurons as well as glial cells. The non-immune functions of C3aR in the adult CNS include regulation of basal neurogenesis, injury-induced neural plasticity, and modulation of glial cell activation. In the developing brain, C3aR and C3 have been shown to play a role in neural progenitor cell proliferation and neuronal migration with potential implications for autism spectrum disorder, and adult C3aR deficient (C3aR−/−) mice were reported to exhibit subtle deficit in recall memory. Here, we subjected 3 months old male C3aR−/− mice to a battery of behavioral tests and examined their brain morphology. We found that the C3aR−/− mice exhibit a short-term memory deficit and increased locomotor activity, but do not show any signs of autistic behavior as assessed by self-grooming behavior. We also found regional differences between the C3aR−/− and wild-type (WT) mice in the morphology of motor and somatosensory cortex, as well as amygdala and hippocampus. In summary, constitutive absence of C3aR signaling in mice leads to neurodevelopmental abnormalities that persist into adulthood and are associated with locomotive hyperactivity and altered cognitive functions.

scholarly journals Exploring the Impact of Augmented Reality in Children and Adolescents with Autism Spectrum Disorder: A Systematic Review

2020 ◽  
Vol 17 (17) ◽  
pp. 6143 ◽  
Author(s):  
Carmen Berenguer ◽  
Inmaculada Baixauli ◽  
Soledad Gómez ◽  
María de El Puig Andrés ◽  
Simona De Stasio
Keyword(s):  
Systematic Review ◽  
Augmented Reality ◽  
Children And Adolescents ◽  
Social Cognitive ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Adolescents With Autism ◽  
Future Work ◽  
The Impact

Autistic Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by persistent difficulties in communication and social interaction along with a restriction in interests and the presence of repetitive behaviors. The development and use of augmented reality technology for autism has increased in recent years. However, little is known about the impact of these virtual reality technologies on clinical health symptoms. The aim of this systematic review was to investigate the impact of augmented reality through social, cognitive, and behavioral domains in children and adolescents with autism. This study is the first contribution that has carried out an evidence-based systematic review including relevant science databases about the effectiveness of augmented reality-based intervention in ASD. The initial search identified a total of 387 records. After the exclusion of papers that are not research studies and are duplicated articles and after screening the abstract and full text, 20 articles were selected for analysis. The studies examined suggest promising findings about the effectiveness of augmented reality-based treatments for the promotion, support, and protection of health and wellbeing in children and adolescents with autism. Finally, possible directions for future work are discussed.

scholarly journals 4365 Family-Based Study of Sleep in Autism Spectrum Disorder without Intellectual Disability

2020 ◽  
Vol 4 (s1) ◽  
pp. 72-72
Author(s):  
Stacey Elkhatib Smidt ◽  
Arpita Ghorai ◽  
Brielle Gehringer ◽  
Holly Dow ◽  
Zoe Smernoff ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Inverse Correlation ◽  
Social Function ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Social Impairment ◽  
Relative Amplitude ◽  
Daytime Activity

OBJECTIVES/GOALS: Autism spectrum disorder (ASD) is characterized by difficulties in communication and social interaction as well as restricted and repetitive behaviors. Sleep problems are a common concern in children with ASD that can persist into adulthood. This study aims to further explore sleep in ASD without intellectual disability (ASD w/o ID). METHODS/STUDY POPULATION: We recruited individuals of both sexes with ASD w/o ID (probands) and relatives as part of the Autism Spectrum Program of Excellence (ASPE) at the University of Pennsylvania. Actimetry data were collected via a wrist-worn tri-axial accelerometer for 21 days. Data from 212 participants were considered. We analyzed sleep data using the algorithms GGIR, ChronoSapiens, and PennZzz. The sleep traits of proband and sibling pairs were compared using paired t-test or Wilcoxon signed-rank test. We used the Social Responsiveness Scale, Second Edition (SRS-2) to assess social impairment and restricted/repetitive traits. We compared SRS-2 scores to sleep traits using partial Spearman or Pearson correlations adjusting for age (171 participants). RESULTS/ANTICIPATED RESULTS: Probands demonstrated later sleep onset (p = 0.03), decreased M10 average (10-hour period of highest activity/day; p = 0.006), decreased relative amplitude (measure of rest-activity rhythm; p <0.001), and decreased total daytime activity (p = 0.005) compared to siblings. Regarding social function and restricted/repetitive traits, adult males showed an inverse correlation between SRS-2 total score and sleep efficiency (r = −0.2, p = 0.04) and a positive correlation between SRS-2 total score and intradaily variability (r = 0.3, p = 0.02). Adult females showed an inverse correlation between SRS-2 total score and M10 average (r = −0.3, p = 0.02) and between SRS-2 total score and relative amplitude (self-report r = −0.4, p = 0.001; informant r = −0.3, p = 0.005). DISCUSSION/SIGNIFICANCE OF IMPACT: This study focuses on the analysis of sleep traits in ASD including the relationship between social function and sleep. Thus far, the most robust findings are decreased daytime activity and relative amplitude in individuals with ASD w/o ID compared to siblings. We have also shown that ASD social impairment may be related to sleep dysfunction.

scholarly journals Beyond Axon Guidance: Roles of Slit-Robo Signaling in Neocortical Formation

2020 ◽  
Vol 8 ◽  
Author(s):  
Yuko Gonda ◽  
Takashi Namba ◽  
Carina Hanashima
Keyword(s):  
Axon Guidance ◽  
Neural Progenitor Cells ◽  
Autism Spectrum ◽  
Extracellular Signaling ◽  
Neocortical Development ◽  
Neocortical Neurons ◽  
Proliferation And Differentiation ◽  
Progenitor Cell Proliferation ◽  
And Migration ◽  
Proliferation And Migration

The formation of the neocortex relies on intracellular and extracellular signaling molecules that are involved in the sequential steps of corticogenesis, ranging from the proliferation and differentiation of neural progenitor cells to the migration and dendrite formation of neocortical neurons. Abnormalities in these steps lead to disruption of the cortical structure and circuit, and underly various neurodevelopmental diseases, including dyslexia and autism spectrum disorder (ASD). In this review, we focus on the axon guidance signaling Slit-Robo, and address the multifaceted roles of Slit-Robo signaling in neocortical development. Recent studies have clarified the roles of Slit-Robo signaling not only in axon guidance but also in progenitor cell proliferation and migration, and the maturation of neocortical neurons. We further discuss the etiology of neurodevelopmental diseases, which are caused by defects in Slit-Robo signaling during neocortical formation.

scholarly journals Subgroups of Children with Autism Spectrum Disorder without Intellectual Disability: A Longitudinal Examination of Executive and Socio-Adaptive Behaviors in Adolescence

2021 ◽  
Vol 10 (10) ◽  
pp. 2220
Author(s):  
Rocio Rosello ◽  
Carmen Berenguer ◽  
Jose Martinez-Raga ◽  
Ana Miranda ◽  
Samuele Cortese
Keyword(s):  
Intellectual Disability ◽  
Social Cognitive ◽  
Autism Spectrum ◽  
Social Impairment ◽  
Care Plans ◽  
The Social ◽  
Patterns Of Behavior ◽  
Living Skills ◽  
Core Symptoms

Within the autistic spectrum, there is remarkable variability in the etiology, presentation, and treatment response. This prospective study was designed to identify, through cluster analysis, subgroups of individuals with ASD without intellectual disability (ID) based on the severity of the core symptoms in childhood. The secondary aim was to explore whether these subgroups and a group with typical development (TD) differ in cognitive, adaptive, and social aspects measured in adolescence. The sample at baseline was comprised of 52 children with ASD without ID and 37 children with TD, aged 7–11. Among the ASD group, three clusters were identified. Cluster 1 (40%), ‘high severity’, presented high symptom severity on the DSM-5 criteria and the Social Communication Questionnaire. Cluster 2 (34%) showed ‘moderate severity’ on most of the scores. Cluster 3 (25%) corresponded to ‘low severity’, showing moderate social impairment and low restrictive, repetitive patterns of behavior, interests and activities. At 5-year follow-up, 45 adolescents with ASD without ID and 27 adolescents with TD were assessed. All clusters had significantly more difficulties in EF, ToM, socialization and adaptive behavior compared to TD. Social and adaptive trajectories between the ASD subgroups were relatively different; Cluster 3 showed poorer socialization and daily living skills than the other two subgroups. These findings highlight the importance of fully assessing social, cognitive, and adaptive profiles to develop care plans tailored to specific needs.

A Case Study: Unique Challenges of an Adolescent Female With Autism Spectrum Disorder

2020 ◽  
Vol 5 (1) ◽  
pp. 314-325
Author(s):  
Kimberly F. Frazier ◽  
Jessica Collier ◽  
Rachel Glade
Keyword(s):  
Autism Spectrum Disorder ◽  
Cognitive Abilities ◽  
Social Cognitive ◽  
Social Performance ◽  
Management Strategies ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Self Management ◽  
Adolescent Female ◽  
Social Thinking

Background The aim of this study was to determine the clinical efficacy of combining self-management strategies and a social thinking approach to address the social performance and executive function of an adolescent female with autism spectrum disorder. Method This research examined the effects of a social knowledge training program, “Think Social,” as well as strategies to improve higher order cognitive abilities. Results and Conclusion Although quantitative improvement was not found, several qualitative gains in behavior were noted for the participants of this study, suggesting a benefit from using structured environmental cues of self-management strategies, as well as improved social understanding through social cognitive training.

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