scholarly journals Assessment and Treatment in Autism Spectrum Disorders: A Focus on Genetics and Psychiatry

2012 ◽  
Vol 2012 ◽  
pp. 1-11 ◽  
Author(s):  
Merlin G. Butler ◽  
Erin L. Youngs ◽  
Jennifer L. Roberts ◽  
Jessica A. Hellings

Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD affects approximately 1% of children and is on the rise with significant genetic mechanisms underlying these disorders. We review the current understanding of the role of genetic and metabolic factors contributing to ASD with the use of new genetic technology. Fifty percent is diagnosed with chromosomal abnormalities, small DNA deletions/duplications, single-gene conditions, or metabolic disturbances. Genetic evaluation is discussed along with psychiatric treatment and approaches for selection of medication to treat associated challenging behaviors or comorbidities seen in ASD. We emphasize the importance of prioritizing treatment based on target symptom clusters and in what order for individuals with ASD, as the treatment may vary from patient to patient.

2020 ◽  
Vol 21 (17) ◽  
pp. 6274
Author(s):  
Maria Vittoria Ristori ◽  
Stefano Levi Mortera ◽  
Valeria Marzano ◽  
Silvia Guerrera ◽  
Pamela Vernocchi ◽  
...  

Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by behavioral alterations and currently affect about 1% of children. Significant genetic factors and mechanisms underline the causation of ASD. Indeed, many affected individuals are diagnosed with chromosomal abnormalities, submicroscopic deletions or duplications, single-gene disorders or variants. However, a range of metabolic abnormalities has been highlighted in many patients, by identifying biofluid metabolome and proteome profiles potentially usable as ASD biomarkers. Indeed, next-generation sequencing and other omics platforms, including proteomics and metabolomics, have uncovered early age disease biomarkers which may lead to novel diagnostic tools and treatment targets that may vary from patient to patient depending on the specific genomic and other omics findings. The progressive identification of new proteins and metabolites acting as biomarker candidates, combined with patient genetic and clinical data and environmental factors, including microbiota, would bring us towards advanced clinical decision support systems (CDSSs) assisted by machine learning models for advanced ASD-personalized medicine. Herein, we will discuss novel computational solutions to evaluate new proteome and metabolome ASD biomarker candidates, in terms of their recurrence in the reviewed literature and laboratory medicine feasibility. Moreover, the way to exploit CDSS, performed by artificial intelligence, is presented as an effective tool to integrate omics data to electronic health/medical records (EHR/EMR), hopefully acting as added value in the near future for the clinical management of ASD.


2021 ◽  
Vol 11 (4) ◽  
pp. 547-556
Author(s):  
Ali A. Danesh ◽  
Stephanie Howery ◽  
Hashir Aazh ◽  
Wafaa Kaf ◽  
Adrien A. Eshraghi

Hyperacusis is highly prevalent in the autism spectrum disorder (ASD) population. This auditory hypersensitivity can trigger pragmatically atypical reactions that may impact social and academic domains. Objective: The aim of this report is to describe the relationship between decreased sound tolerance disorders and the ASD population. Topics covered: The main topics discussed include (1) assessment and prevalence of hyperacusis in ASD; (2) etiology of hyperacusis in ASD; (3) treatment of hyperacusis in ASD. Conclusions: Knowledge of the assessment and treatment of decreased sound tolerance disorders within the ASD population is growing and changing.


Author(s):  
Fabrizio Stasolla ◽  
Alessandro O. Caffò ◽  
Viviana Perilli

This chapter emphasizes a selective overview of the newest empirical contributions available in the literature within the last decade (i.e., 2008-2019) regarding the use of assistive technology for the inclusion of children with autism spectrum disorders (ASD) in daily settings. According to the including and excluding criteria, 40 studies were retained and grouped in five main categories, namely (1) communication skills, (2) adaptive and/or social skills, (3) life skills, (4) challenging behaviors, and (5) academic performance. The first aim of the chapter was to outline strengths and weaknesses of the aforementioned studies. The second objective of the chapter was to provide some practical and illustrative examples of assistive technology-based programs aimed at the integration of children with ASD in daily settings. Finally, the third purpose was to discuss the findings pointing out some useful guidelines for future research and practice. Results were fairly positive, although some failure occurred. Clinical, educational, psychological, and rehabilitative implications were critically discussed.


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