scholarly journals Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders: Phenotype Stratification and Biomarker Discovery

2020 ◽  
Vol 21 (17) ◽  
pp. 6274
Author(s):  
Maria Vittoria Ristori ◽  
Stefano Levi Mortera ◽  
Valeria Marzano ◽  
Silvia Guerrera ◽  
Pamela Vernocchi ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Biomarker Discovery ◽  
Chromosomal Abnormalities ◽  
Single Gene ◽  
Clinical Decision Support Systems ◽  
Clinical Decision ◽  
Autism Spectrum ◽  
Added Value ◽  
Diagnostic Tools ◽  
Spectrum Disorders

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.

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
Keyword(s):  
Autism Spectrum Disorders ◽  
Chromosomal Abnormalities ◽  
Psychiatric Treatment ◽  
Single Gene ◽  
Challenging Behaviors ◽  
Autism Spectrum ◽  
Metabolic Disturbances ◽  
Dna Deletions ◽  
Assessment And Treatment ◽  
Spectrum Disorders

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.

Autism spectrum disorders associated with chromosomal abnormalities

2010 ◽  
Vol 4 (3) ◽  
pp. 319-327 ◽  
Author(s):  
Adriana Lo-Castro ◽  
Arianna Benvenuto ◽  
Cinzia Galasso ◽  
Cristina Porfirio ◽  
Paolo Curatolo
Keyword(s):  
Autism Spectrum Disorders ◽  
Chromosomal Abnormalities ◽  
Autism Spectrum ◽  
Spectrum Disorders

scholarly journals Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders

2019 ◽  
Vol 50 (06) ◽  
pp. 367-377
Author(s):  
S. Monteiro ◽  
J. Pinto ◽  
A. Mira Coelho ◽  
M. Leão ◽  
S. Dória
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number ◽  
Array Cgh ◽  
Chromosomal Abnormalities ◽  
Daily Practice ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Uncertain Significance ◽  
Spectrum Disorders

Background Autism spectrum disorders (ASD) affect many children with an estimated prevalence of 1%. Array-comparative genomic hybridization (CGH) offers significant sensitivity for the identification of submicroscopic chromosomal abnormalities and it is one of the most used techniques in daily practice. The main objective of this study was to describe the usefulness of array-CGH in the etiologic diagnosis of ASD. Methods Two-hundred fifty-three patients admitted to a neurogenetic outpatient clinic and diagnosed with ASD were selected for array-CGH (4 × 180K microarrays). Public databases were used for classification in accordance with the American College of Medical Genetics Standards and Guidelines. Results About 3.56% (9/253) of copy number variations (CNVs) were classified as pathogenic. When likely pathogenic CNVs were considered, the rate increased to 11.46% (29/253). Some CNVs apparently not correlated to the ASD were also found. Considering a phenotype–genotype correlation, the patients were divided in two groups. One group according to previous literature includes all the CNVs related to ASDs (23 CNVs present in 22 children) and another with those apparently not related to ASD (10 CNVs present in 7 children). In 18 patients, a next-generation sequencing (NGS) panel were performed. From these, one pathogenic and 16 uncertain significance variants were identified. Conclusion The results of our study are in accordance with the literature, highlighting the relevance of array-CGH in the genetic of diagnosis of ASD population, namely when associated with other features. Our study also reinforces the need for complementarity between array-CGH and NGS panels or whole exome sequencing in the etiological diagnosis of ASD.

scholarly journals Diagnostic Tools for Autism Spectrum Disorders by Sex: Analysis of Current Status and Future Lines

2021 ◽  
Author(s):  
Esperanza Navarro-Pardo ◽  
Fernanda López-Ramón ◽  
Yurena Alonso-Esteban ◽  
Francisco Alcantud-Marín
Keyword(s):  
Autism Spectrum Disorders ◽  
Protective Factor ◽  
Diagnostic Procedures ◽  
Autism Spectrum ◽  
Current Status ◽  
Diagnostic Tools ◽  
Second Line ◽  
Spectrum Disorders ◽  
Low Prevalence

Studies on the prevalence of Autism Spectrum Disorders show a gender disproportion. In the last years, there has been an increasing interest in the search for an explanation. There are two main lines of research; the first one looks for sex-related biological reasons that justifies the low prevalence of ASD in women (some protective factor related to hormones or immune system among others), and the second line of studies is related to the possible biases introduced in the diagnostic tools or procedures. In this article, a review of the latter line of research is made. Theoretical analysis following two objectives: a) Analysis of possible biases in diagnostic tools and b) Other non-biological explanations for gender differences in the prevalence of ASD. The literature analyzed provides contradictory results although it evidences the possible bias both in the construction of the diagnostic tools and in the assessment and determination of their standards. It is necessary to develop specific or complementary tools and diagnostic procedures differentiated by gender in order to control for this bias.

scholarly journals Gene Therapies for Monogenic Autism Spectrum Disorders

Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1667
Author(s):  
Wout Weuring ◽  
Jeroen Geerligs ◽  
Bobby P. C. Koeleman
Keyword(s):  
Autism Spectrum Disorders ◽  
Single Gene ◽  
Autism Spectrum ◽  
Gene Therapies ◽  
Monogenic Disorders ◽  
Ideal Candidate ◽  
The Past ◽  
Syndromic Autism ◽  
Spectrum Disorders ◽  
Syndromic Asd

Novel genome editing and transient gene therapies have been developed the past ten years, resulting in the first in-human clinical trials for monogenic disorders. Syndromic autism spectrum disorders can be caused by mutations in a single gene. Given the monogenic aspect and severity of syndromic ASD, it is an ideal candidate for gene therapies. Here, we selected 11 monogenic ASD syndromes, validated by animal models, and reviewed current gene therapies for each syndrome. Given the wide variety and novelty of some forms of gene therapy, the best possible option must be decided based on the gene and mutation.

scholarly journals Chromosomal Abnormalities in Patients With Autism Spectrum Disorders From Taiwan

2013 ◽  
Vol 162 (7) ◽  
pp. 734-741 ◽  
Author(s):  
Hsiao-Mei Liao ◽  
Susan Shur-Fen Gau ◽  
Wen-Che Tsai ◽  
Jye-Siung Fang ◽  
Ying-Cheng Su ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Chromosomal Abnormalities ◽  
Autism Spectrum ◽  
Spectrum Disorders

scholarly journals Diagnostic Tools for Autism Spectrum Disorders by Gender: Analysis of Current Status and Future Lines

Children ◽  
2021 ◽  
Vol 8 (4) ◽  
pp. 262
Author(s):  
Esperanza Navarro-Pardo ◽  
Fernanda López-Ramón ◽  
Yurena Alonso-Esteban ◽  
Francisco Alcantud-Marín
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Current Status ◽  
Diagnostic Tools ◽  
Gender Analysis ◽  
Main Research ◽  
Investigation Area ◽  
Assessment Standards ◽  
Spectrum Disorders ◽  
Diagnostic Biases

Studies on the prevalence of autism spectrum disorders have shown gender disproportion. In recent years, there has been an increasing interest in this investigation area. There are two main research lines; the first is focused mostly on gender-related biological reasons that could account for low ASD prevalence in women (i.e., related to some protective factors related to hormones or the immune system, among others), and the second research line studies possible diagnostic biases. In the present study, a review of the latter line of research is made based on two main objectives: (a) analysis of possible biases in diagnostic tools and (b) other nonbiological ASD prevalence explained by gender differences. As a result of our theoretical review, we found that the articles reviewed showed contradictory results and possible diagnostic biases, not only in their design but also in their assessment standards. We concluded that specific or complementary diagnostic tools and procedures differentiated by gender should be developed in order to reduce these biases.

Sign in / Sign up

Export Citation Format

Share Document