Complexity Of Autism Spectrum Disorder Research Articles

The spectrum of pre-mRNA splicing in autism.

Disruptions in spatiotemporal gene expression can result in atypical brain function. Specifically, autism spectrum disorder (ASD) is characterized by abnormalities in pre-mRNA splicing. Abnormal splicing patterns have been identified in the brains of individuals with ASD, and mutations in splicing factors have been found to contribute to neurodevelopmental delays associated with ASD. Here we review studies that shed light on the importance of splicing observed in ASD and that explored the intricate relationship between splicing factors and ASD, revealing how disruptions in pre-mRNA splicing may underlie ASD pathogenesis. We provide an overview of the research regarding all splicing factors associated with ASD and place a special emphasis on five specific splicing factors-HNRNPH2, NOVA2, WBP4, SRRM2, and RBFOX1-known to impact the splicing of ASD-related genes. In the discussion of the molecular mechanisms influenced by these splicing factors, we lay the groundwork for a deeper understanding of ASD's complex etiology. Finally, we discuss the potential benefit of unraveling the connection between splicing and ASD for the development of more precise diagnostic tools and targeted therapeutic interventions. This article is categorized under: RNA in Disease and Development > RNA in Disease RNA Evolution and Genomics > RNA and Ribonucleoprotein Evolution RNA Evolution and Genomics > Computational Analyses of RNA RNA-Based Catalysis > RNA Catalysis in Splicing and Translation.

Организация тьюторского сопровождения учебного процесса младших школьников с РАС. Технология «Классный тьютор»

<p style="text-align: justify;">The heterogeneity and complexity of autism spectrum disorders (ASD) determines the need to develop special education and support environment for children with ASD, considering children special educational needs. Tutor support is a necessary, guaranteed and learning model-independent condition for the effective adaptation of a child with autism in the school environment. The «Class tutor» technology is an original education intervention developed within the framework of the concept of inclusive education. The technology focuses on the group tutor support in a grade for children with ASD. Goals of the intervention are: the adaptation of students to the educational process the individual inclusion of the student in the team; participation of a tutor in group lesson activities and tutor assistance to the group in the mastering of the education program (special type of the educational program for children with ASD); developing of the individual learning conditions, developing of the functional skills and reducing of the episodes of unwanted behavior. The specific tasks of the stages (preliminary, adaptive-diagnostic, main, final) of the technology implementation are presented. During the work with the unwanted behavior tutor uses following applied behavioral analysis techniques implemented in the «Class tutor» intervention: the use of motivational stimuli; the dosed use of prompts of various levels; extinction; positive weakening; the establishment of instructional control; an increase in the period of problem-free behavior; support and consolidation of alternative and replacing forms of behavior, maintaining an adequate pace of work; training functional communication. The game interaction during the break has been chosen as the model for the description of the intervention scheme. The principles of the intervention effectiveness study design include multiple case and multiple-baseline methodology.</p>

Can a combination of mental health services and ADL therapies improve quality of life in families of children with autism spectrum disorder?

Due to the nature and complexity of autism spectrum disorder (ASD), which typically requires coordination among various treatments targeting different areas of need, the entire family is impacted. Family quality of life (FQOL) research has emerged to address the range of adaptation families experience when raising a child with ASD. One factor that is likely to impact FQOL relates to families' service use to support their child's needs. The goal of the present study was to examine the relations between specific domains of FQOL and service usage type among families of children with ASD. A total of 164 caregivers of children diagnosed with ASD were asked which autism services they were currently using and completed the Beach Center Family Quality of Life Scale and the Nisonger Child Behaviour Rating Form. Findings revealed that service usage type significantly predicted families' satisfaction with their emotional well-being, physical/material well-being, and disability-related support. Specifically, families using a combination of mental health services and ADL therapies reported greater satisfaction in these FQOL domains. Present findings underscore that families need access to a sufficiently broad range of child services and supports in order to benefit their FQOL.

Review of The Complexity of Autism Spectrum Disorders

Review of The Complexity of Autism Spectrum Disorders

Синдром Кабукі як причина генетично детермінованої затримки психомоторного розвитку та розладів аутистичного спектра

Kabuki syndrome is a rare non+progressive genetic disease and characterized by a combination of phenotypic traits. The main symptoms of the pathology are facial features that resemble the make-up of Kabuki actors, mental retardation, delay of speech and movement development, postnatal growth retardation, skeletal abnormalities, dermatoglyphic features, and can also be symptoms of autism spectrum disorder. Patients with this disease can attract attention of pediatricians, as well as others specialists such as neurologists, psychiatrists, orthopedists, endocrinologists. Herein we presented the case that illustrates the diagnostic complexity of autism spectrum disorder in children. Autism spectrum disorder in most cases can occur in the structure of genetic syndromes or other rare diseases. A detailed examination of the child with symptoms of autism spectrum disorder can help in establishing the correct diagnosis, tactics of follow+up and patient rehabilitation. Key words: Kabuki syndrome, orphan disease, autism spectrum disorder, delay of movement and mental development.

Exploring Autism Spectrum Disorders Using HLT.

The phenotypic complexity of Autism Spectrum Disorder motivates the application of modern computational methods to large collections of observational data, both for improved clinical diagnosis and for better scientific understanding. We have begun to create a corpus of annotated language samples relevant to this research, and we plan to join with other researchers in pooling and publishing such resources on a large scale. The goal of this paper is to present some initial explorations to illustrate the opportunities that such datasets will afford.

Common circuit defect of excitatory-inhibitory balance in mouse models of autism

One unifying explanation for the complexity of Autism Spectrum Disorders (ASD) may lie in the disruption of excitatory/inhibitory (E/I) circuit balance during critical periods of development. We examined whether Parvalbumin (PV)-positive inhibitory neurons, which normally drive experience-dependent circuit refinement (Hensch Nat Rev Neurosci 6:877–888, 1), are disrupted across heterogeneous ASD mouse models. We performed a meta-analysis of PV expression in previously published ASD mouse models and analyzed two additional models, reflecting an embryonic chemical insult (prenatal valproate, VPA) or single-gene mutation identified in human patients (Neuroligin-3, NL-3 R451C). PV-cells were reduced in the neocortex across multiple ASD mouse models. In striking contrast to controls, both VPA and NL-3 mouse models exhibited an asymmetric PV-cell reduction across hemispheres in parietal and occipital cortices (but not the underlying area CA1). ASD mouse models may share a PV-circuit disruption, providing new insight into circuit development and potential prevention by treatment of autism.Electronic supplementary materialThe online version of this article (doi:10.1007/s11689-009-9023-x) contains supplementary material, which is available to authorized users.