scholarly journals Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder

2012 ◽  
Vol 53 (8) ◽  
pp. 589-598 ◽  
Author(s):  
Michelle M. Mitchell ◽  
Rima Woods ◽  
Lai-Har Chi ◽  
Rebecca J. Schmidt ◽  
Isaac N. Pessah ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Postmortem Brain ◽  
Human Postmortem Brain ◽  
Environmental Involvement

scholarly journals Defects of myelination are common pathophysiology in syndromic and idiopathic autism spectrum disorder

2017 ◽  
Author(s):  
BaDoi N. Phan ◽  
Stephanie Cerceo Page ◽  
Morganne N. Campbell ◽  
Joseph F. Bohlen ◽  
Courtney L. Thaxton ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Mouse Models ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Postmortem Brain ◽  
Protein Levels ◽  
Gene Sets ◽  
Significant Enrichment ◽  
Transcriptional Changes ◽  
Syndromic Asd

AbstractAutism Spectrum Disorder (ASD) is genetically heterogeneous in nature with convergent symptomatology, suggesting dysregulation of common molecular pathways. We analyzed transcriptional changes in the brains of five independent mouse models of Pitt-Hopkins Syndrome (PTHS), a syndromic ASD caused by autosomal dominant mutation in TCF4, and identified considerable overlap in differentially expressed genes (DEGs). Gene and cell-type enrichment analyses of these DEGs identified oligodendrocyte dysregulation that was subsequently validated by decreased protein levels. We further showed significant enrichment of myelination genes was prevalent in two additional mouse models of ASD (Ptenm3m4/m3m4, Mecp2KO). Moreover, we integrated syndromic ASD mouse model DEGs with ASD risk-gene sets (SFARI) and human idiopathic ASD postmortem brain RNA-seq and found significant enrichment of overlapping DEGs and common biological pathways associated with myelination and oligodendrocyte differentiation. These results from seven independent mouse models are validated in human brain, implicating disruptions in myelination is a common ASD pathophysiology.

scholarly journals Alterations in connectome dynamics in autism spectrum disorder: A harmonized mega- and meta-analysis study using the ABIDE dataset

2021 ◽  
Author(s):  
Yapei Xie ◽  
Zhilei Xu ◽  
Mingrui Xia ◽  
Jin Liu ◽  
Xiaojing Shou ◽  
...  
Keyword(s):  
Gene Expression ◽  
Autism Spectrum Disorder ◽  
Data Exchange ◽  
Expression Profiles ◽  
Autism Spectrum ◽  
Case Control ◽  
Spectrum Disorder ◽  
Postmortem Brain ◽  
Brain Dynamics ◽  
Healthy Controls

Neuroimaging studies have reported functional connectome aberrancies in autism spectrum disorder (ASD). However, the time-varying patterns of connectome topology in ASD individuals and the connection between these patterns and gene expression profiles remain unknown. To investigate case-control differences in dynamic connectome topology, we conducted mega- and meta-analyses of resting-state fMRI data of 939 participants (440 ASD patients and 499 healthy controls, all males) from 18 sites, selected from the ABIDE (Autism Brain Imaging Data Exchange) dataset. Functional data was preprocessed using harmonized protocols, and brain module dynamics was assessed using a multilayer network model. We further leveraged postmortem brain-wide gene expression data to identify transcriptomic signatures associated with ASD-related alterations in brain dynamics. Compared to healthy controls, ASD individuals exhibited a higher global mean and lower standard deviation of whole-brain module dynamics, indicating an unstable and less regionally differentiated pattern. More specifically, ASD individuals showed increased module switching, primarily in the default-mode regions, and reduced switching in the visual regions, with the largest case-control differences in the medial prefrontal cortex. These alterations in brain dynamics were predictive of social impairments in ASD individuals and were linked with expression profiles of genes primarily involved in the regulation of neurotransmitter transport and secretion, as well as with previously identified autism-related genes. This study is the first to identify consistent alterations in brain network dynamics in ASD, and the transcriptomic signatures related to those alterations, furthering insights into the biological basis behind this disorder.

Development of Neural Structure and Function in Autism Spectrum Disorder: Potential Implications for Learning Language

2020 ◽  
Vol 29 (4) ◽  
pp. 1783-1797
Author(s):  
Kelly L. Coburn ◽  
Diane L. Williams
Keyword(s):  
Autism Spectrum Disorder ◽  
Language Development ◽  
Diffusion Tensor ◽  
Autism Spectrum ◽  
Language Intervention ◽  
Spectrum Disorder ◽  
Autistic Children ◽  
Neural Structure ◽  
Complex Information ◽  
And Function

Purpose Neurodevelopmental processes that begin during gestation and continue throughout childhood typically support language development. Understanding these processes can help us to understand the disruptions to language that occur in neurodevelopmental conditions, such as autism spectrum disorder (ASD). Method For this tutorial, we conducted a focused literature review on typical postnatal brain development and structural and functional magnetic resonance imaging, diffusion tensor imaging, magnetoencephalography, and electroencephalography studies of the neurodevelopmental differences that occur in ASD. We then integrated this knowledge with the literature on evidence-based speech-language intervention practices for autistic children. Results In ASD, structural differences include altered patterns of cortical growth and myelination. Functional differences occur at all brain levels, from lateralization of cortical functions to the rhythmic activations of single neurons. Neuronal oscillations, in particular, could help explain disrupted language development by elucidating the timing differences that contribute to altered functional connectivity, complex information processing, and speech parsing. Findings related to implicit statistical learning, explicit task learning, multisensory integration, and reinforcement in ASD are also discussed. Conclusions Consideration of the neural differences in autistic children provides additional scientific support for current recommended language intervention practices. Recommendations consistent with these neurological findings include the use of short, simple utterances; repetition of syntactic structures using varied vocabulary; pause time; visual supports; and individualized sensory modifications.

Parent Education in Studies With Nonverbal and Minimally Verbal Participants With Autism Spectrum Disorder: A Systematic Review

2020 ◽  
Vol 29 (2) ◽  
pp. 890-902
Author(s):  
Lynn Kern Koegel ◽  
Katherine M. Bryan ◽  
Pumpki Lei Su ◽  
Mohini Vaidya ◽  
Stephen Camarata
Keyword(s):  
Systematic Review ◽  
Autism Spectrum Disorder ◽  
Parent Education ◽  
Autism Spectrum ◽  
Verbal Communication ◽  
Fidelity Of Implementation ◽  
Spectrum Disorder ◽  
Education Programs ◽  
Minimally Verbal ◽  
Parent Education Programs

Purpose The purpose of this systematic review was to identify parent education procedures implemented in intervention studies focused on expressive verbal communication for nonverbal (NV) or minimally verbal (MV) children with autism spectrum disorder (ASD). Parent education has been shown to be an essential component in the habilitation of individuals with ASD. Parents of individuals with ASD who are NV or MV may particularly benefit from parent education in order to provide opportunities for communication and to support their children across the life span. Method ProQuest databases were searched between the years of 1960 and 2018 to identify articles that targeted verbal communication in MV and NV individuals with ASD. A total of 1,231 were evaluated to assess whether parent education was implemented. We found 36 studies that included a parent education component. These were reviewed with regard to (a) the number of participants and participants' ages, (b) the parent education program provided, (c) the format of the parent education, (d) the duration of the parent education, (e) the measurement of parent education, and (f) the parent fidelity of implementation scores. Results The results of this analysis showed that very few studies have included a parent education component, descriptions of the parent education programs are unclear in most studies, and few studies have scored the parents' implementation of the intervention. Conclusions Currently, there is great variability in parent education programs in regard to participant age, hours provided, fidelity of implementation, format of parent education, and type of treatment used. Suggestions are made to provide both a more comprehensive description and consistent measurement of parent education programs.

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.

Instruction Using Augmentative and Alternative Communication Supports: Description of Current Practices by Speech-Language Pathologists Who Work With Children With Autism Spectrum Disorder

2020 ◽  
Vol 29 (2) ◽  
pp. 586-596 ◽  
Author(s):  
Kaitlyn A. Clarke ◽  
Diane L. Williams
Keyword(s):  
Autism Spectrum Disorder ◽  
Augmentative And Alternative Communication ◽  
Communication Systems ◽  
Diagnostic Category ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Alternative Communication ◽  
Speech Language Pathologists ◽  
Processing Differences

Purpose The aim of this research study was to examine common practices of speech-language pathologists (SLPs) who work with children with autism spectrum disorder (ASD) with respect to whether or not SLPs consider processing differences in ASD or the effects of input during their instruction. Method Following a qualitative research method, how SLPs instruct and present augmentative and alternative communication systems to individuals with ASD, their rationale for method selection, and their perception of the efficacy of selected interventions were probed. Semistructured interviews were conducted as part of an in-depth case report with content analysis. Results Based on completed interviews, 4 primary themes were identified: (a) instructional method , (b) input provided , (c) decision-making process , and (d) perceived efficacy of treatment . Additionally, one secondary theme, training and education received , was identified . Conclusions Clinicians reported making decisions based on the needs of the child; however, they also reported making decisions based on the diagnostic category that characterized the child (i.e., ASD). The use of modeling when teaching augmentative and alternative communication to individuals with ASD emerged as a theme, but variations in the method of modeling were noted. SLPs did not report regularly considering processing differences in ASD, nor did they consider the effects of input during instruction.

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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