Using tissue microstructure and multimodal MRI to parse the phenotypic heterogeneity and cellular basis of autism spectrum disorder

2021 ◽  
Author(s):  
Bradley S. Peterson ◽  
Jiaqi Liu ◽  
Louis Dantec ◽  
Courtney Newman ◽  
Siddhant Sawardekar ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Phenotypic Heterogeneity ◽  
Spectrum Disorder ◽  
Tissue Microstructure ◽  
Cellular Basis ◽  
Multimodal Mri

scholarly journals Dissecting the phenotypic heterogeneity in sensory features in autism spectrum disorder: a factor mixture modelling approach

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
J. Tillmann ◽  
◽  
M. Uljarevic ◽  
D. Crawley ◽  
G. Dumas ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Phenotypic Heterogeneity ◽  
Spectrum Disorder ◽  
Mixture Modelling ◽  
Sensory Features ◽  
Modelling Approach

scholarly journals Examining the phenotypic heterogeneity of early autism spectrum disorder: subtypes and short-term outcomes

2015 ◽  
Vol 57 (1) ◽  
pp. 93-102 ◽  
Author(s):  
So Hyun Kim ◽  
Suzanne Macari ◽  
Judah Koller ◽  
Katarzyna Chawarska
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Phenotypic Heterogeneity ◽  
Spectrum Disorder ◽  
Short Term

Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach

2012 ◽  
Vol 54 (2) ◽  
pp. 206-215 ◽  
Author(s):  
Stelios Georgiades ◽  
Peter Szatmari ◽  
Michael Boyle ◽  
Steven Hanna ◽  
Eric Duku ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Mixture Modeling ◽  
Phenotypic Heterogeneity ◽  
Spectrum Disorder ◽  
Modeling Approach ◽  
Factor Mixture Modeling ◽  
Mixture Modeling Approach

scholarly journals Transcriptional subtyping explains phenotypic variability in genetic subtypes of autism spectrum disorder

2020 ◽  
Vol 32 (4) ◽  
pp. 1353-1361
Author(s):  
Sandy Trinh ◽  
Anne Arnett ◽  
Evangeline Kurtz-Nelson ◽  
Jennifer Beighley ◽  
Marta Picoto ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Communication ◽  
Phenotypic Variability ◽  
Expression Patterns ◽  
Brain Regions ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Phenotypic Heterogeneity ◽  
Spectrum Disorder ◽  
Genetic Subtypes

AbstractAutism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by deficits in social communication and presence of restricted, repetitive behaviors, and interests. However, individuals with ASD vary significantly in their challenges and abilities in these and other developmental domains. Gene discovery in ASD has accelerated in the past decade, and genetic subtyping has yielded preliminary evidence of utility in parsing phenotypic heterogeneity through genomic subtypes. Recent advances in transcriptomics have provided additional dimensions with which to refine genetic subtyping efforts. In the current study, we investigate phenotypic differences among transcriptional subtypes defined by neurobiological spatiotemporal co-expression patterns. Of the four transcriptional subtypes examined, participants with mutations to genes typically expressed highly in all brain regions prenatally, and those with differential postnatal cerebellar expression relative to other brain regions, showed lower cognitive and adaptive skills, higher severity of social communication deficits, and later acquisition of speech and motor milestones, compared to those with mutations to genes highly expressed during the postnatal period across brain regions. These findings suggest higher-order characterization of genetic subtypes based on neurobiological expression patterns may be a promising approach to parsing phenotypic heterogeneity among those with ASD and related neurodevelopmental disorders.

Classification of Preschoolers with Low-Functioning Autism Spectrum Disorder Using Multimodal MRI Data

2022 ◽  
Author(s):  
Johanna Inhyang Kim ◽  
Sungkyu Bang ◽  
Jin-Ju Yang ◽  
Heejin Kwon ◽  
Soomin Jang ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Multimodal Mri ◽  
Low Functioning

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.

Sign in / Sign up

Export Citation Format

Share Document