scholarly journals Environmental Influences Measured by Epigenetic Clock and Vulnerability Components at Birth Impact Clinical ASD Heterogeneity

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1433
Author(s):  
Viviane Neri de Souza Reis ◽  
Ana Carolina Tahira ◽  
Vinícius Daguano Gastaldi ◽  
Paula Mari ◽  
Joana Portolese ◽  
...  
Keyword(s):  
Maternal Education ◽  
Principal Component ◽  
Autism Spectrum ◽  
Epigenetic Clock ◽  
Stress Exposure ◽  
Regulatory Regions ◽  
Dna Methylation Age ◽  
Spectrum Disorders ◽  
Stress Burden

Although Autism Spectrum Disorders (ASD) is recognized as being heavily influenced by genetic factors, the role of epigenetic and environmental factors is still being established. This study aimed to identify ASD vulnerability components based on familial history and intrauterine environmental stress exposure, explore possible vulnerability subgroups, access DNA methylation age acceleration (AA) as a proxy of stress exposure during life, and evaluate the association of ASD vulnerability components and AA to phenotypic severity measures. Principal Component Analysis (PCA) was used to search the vulnerability components from 67 mothers of autistic children. We found that PC1 had a higher correlation with psychosocial stress (maternal stress, maternal education, and social class), and PC2 had a higher correlation with biological factors (psychiatric family history and gestational complications). Comparing the methylome between above and below PC1 average subgroups we found 11,879 statistically significant differentially methylated probes (DMPs, p < 0.05). DMPs CpG sites were enriched in variably methylated regions (VMRs), most showing environmental and genetic influences. Hypermethylated probes presented higher rates in different regulatory regions associated with functional SNPs, indicating that the subgroups may have different affected regulatory regions and their liability to disease explained by common variations. Vulnerability components score moderated by epigenetic clock AA was associated with Vineland Total score (p = 0.0036, adjR2 = 0.31), suggesting risk factors with stress burden can influence ASD phenotype.

Critical role of dysfunctional mitochondria and defective mitophagy in autism spectrum disorders

2021 ◽  
Vol 168 ◽  
pp. 138-145
Author(s):  
Yuan-Mei Wang ◽  
Ming-Yue Qiu ◽  
Qing Liu ◽  
Huang Tang ◽  
Hong-Feng Gu
Keyword(s):  
Autism Spectrum Disorders ◽  
Critical Role ◽  
Autism Spectrum ◽  
Spectrum Disorders

scholarly journals Mutation analysis of the NRXN1 gene in autism spectrum disorders

2016 ◽  
Vol 19 (2) ◽  
pp. 17-22 ◽  
Author(s):  
H Onay ◽  
D Kacamak ◽  
AN Kavasoglu ◽  
B Akgun ◽  
M Yalcinli ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Children And Adolescents ◽  
Gene Mutations ◽  
Autism Spectrum ◽  
Syndromic Autism ◽  
Spectrum Disorders ◽  
Strong Candidate ◽  
Reduced Penetrance

AbstractThe aim of this study was to identify the sequence mutations in the Neurexin 1 (NRXN1) gene that has been considered as one of the strong candidate genes. A total of 30 children and adolescents (aged 3-18) with non syndromic autism were enrolled this study. Sequencing of the coding exons and the exon-intron boundaries of the NRXN1 gene was performed. Two known mutations were described in two different cases. Heterozygous S14L was determined in one patient and heterozygous L748I was determined in another patient. The S14L and L748I mutations have been described in the patients with autism before. Both of these mutations were inherited from their father. In this study, two of 30 (6.7%) autism spectrum disorder (ASD) patients carrying NRXN1 gene mutations were detected. It indicates that variants in the NRXN1 gene might confer a risk of developing nonsyndromic ASD. However, due to the reduced penetrance in the gene, the causal role of the NRXN1 gene mutations must be evaluated carefully in all cases.

scholarly journals The role of genetic factors and pre- and peri-natal influences in the etiology of autism spectrum disorders – indications for genetic referral

2016 ◽  
Vol 50 (3) ◽  
pp. 543-554 ◽  
Author(s):  
Filip Rybakowski ◽  
Izabela Chojnicka ◽  
Piotr Dziechciarz ◽  
Andrea Horvath ◽  
Małgorzata Janas-Kozik ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Genetic Factors ◽  
Autism Spectrum ◽  
Spectrum Disorders

scholarly journals Preparation for Independent Life of People with ASD and Other Developmental Disorders in The Autonomous Noncommercial Organization «Adain Lo» (ANO «Adain Lo»).

2018 ◽  
Vol 16 (1) ◽  
pp. 29-35
Author(s):  
A.A. Ginsburg ◽  
M.E. Gitshabash ◽  
Ya.L. Ivanova
Keyword(s):  
Developmental Disorders ◽  
Autism Spectrum ◽  
Adults With Autism ◽  
Saint Petersburg ◽  
Independent Life ◽  
Spectrum Disorders ◽  
Self Service ◽  
Role Of Parents ◽  
Commercial Organization

The problems of preparation of children and adults with autism spectrum disorders and other developmental disabilities for independent life, modern ways of development of their independence are considered. The role of parents in this process and parent-specialist interaction are stressed. The techniques of tutor support, parents and other specialists are described. Presented techniques are realized in autonomous non-commercial organization «Adain Lo» (Saint-Petersburg) and aimed for maintenance of independent life, self-service, game, communication and education of people with special needs.

scholarly journals The Role of Iron in the Pathogenesis of Autism Spectrum Disorders in Children

2018 ◽  
Vol 17 (4) ◽  
pp. 281-286 ◽  
Author(s):  
Olga V. Kostina
Keyword(s):  
Autism Spectrum Disorders ◽  
Iron Metabolism ◽  
Biochemical Parameters ◽  
Children With Autism ◽  
Neuropsychiatric Disorders ◽  
Perinatal Period ◽  
Autism Spectrum ◽  
Spectrum Disorders ◽  
The Brain

The review presents an analysis of the mechanisms of iron effect on the brain development. The importance of iron deficiency in the perinatal period is considered as a risk factor for the development of neuropsychiatric disorders in children with autism spectrum disorders (ASDs). Possible causes of sideropenia are discussed; data on haematological and biochemical parameters characterizing iron metabolism in children with ASDs are presented. The demand for studying the role of iron metabolism imbalance in the development of neuropsychiatric disorders in order to clarify pathogenetic mechanisms of ASDs and to determine methods for their correction is emphasized.

scholarly journals Does theatrical play promote social skills development in students with autism? A systematic review of the methods and measures employed in the literature

2018 ◽  
Vol 6 (2) ◽  
pp. 96
Author(s):  
Maria Mpella ◽  
Christina Evaggelinou
Keyword(s):  
Systematic Review ◽  
Social Skills ◽  
Autism Spectrum ◽  
Skills Development ◽  
Social Skill Development ◽  
Pedagogical Strategies ◽  
Theatrical Play ◽  
Students With Autism ◽  
Spectrum Disorders

This systematic review cites a number of programs and critically analyzes methods and measures used to develop social skills in young students with Autism Spectrum Disorders (ASD). Social skills are interpreted through a ToM theory lens, emphasizing interactions such as understanding, explaining, predicting, and manipulating the behavior of themselves and the others. The aim of this review is to study the role of the theatrical play programs and its effect on social interactions and social skills on students with ASD. An online search through Proquest and First Search resulted in twelve studies of diverse methodologies. All these studies support the value of theatrical play as a means of social skill development. More specifically, the qualitative, as well as the quantitative data, indicate the benefits of these programs on ASD students’ social skills such as cooperation, communication, and social awareness. More longitudinal studies are needed to develop and test pedagogical strategies for social skills development of ASD students in light of theatrical play activities. In addition, studies should be geared towards the teacher’s ability to teach theatrical play and thus promote social interaction between students with and without ASD in integrated school environments. Synchronizing theory with art and cooperative play seems to be the key to answer such assumptions positively.

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