scholarly journals Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study

2020 ◽  
Vol 10 (4) ◽  
pp. 160
Author(s):  
Sara Calderoni ◽  
Ivana Ricca ◽  
Giulia Balboni ◽  
Romina Cagiano ◽  
Denise Cassandrini ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Microarray Analysis ◽  
Copy Number Variants ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Single Center ◽  
Accurate Identification ◽  
Chromosome Microarray Analysis ◽  
Spectrum Disorders ◽  
Chromosome Microarray

Autism spectrum disorders (ASD) encompass a heterogeneous group of neurodevelopmental disorders resulting from the complex interaction between genetic and environmental factors. Thanks to the chromosome microarray analysis (CMA) in clinical practice, the accurate identification and characterization of submicroscopic deletions/duplications (copy number variants, CNVs) associated with ASD was made possible. However, the widely acknowledged excess of males on the autism spectrum reflects on a paucity of CMA studies specifically focused on females with ASD (f-ASD). In this framework, we aim to evaluate the frequency of causative CNVs in a single-center cohort of idiopathic f-ASD. Among the 90 f-ASD analyzed, we found 20 patients with one or two potentially pathogenic CNVs, including those previously associated with ASD (located at 16p13.2 16p11.2, 15q11.2, and 22q11.21 regions). An exploratory genotype/phenotype analysis revealed that the f-ASD with causative CNVs had statistically significantly lower restrictive and repetitive behaviors than those without CNVs or with non-causative CNVs. Future work should focus on further understanding of f-ASD genetic underpinnings, taking advantage of next-generation sequencing technologies, with the ultimate goal of contributing to precision medicine in ASD.

scholarly journals Restricted and Repetitive Behaviors as Predictors of Outcome in Autism Spectrum Disorders

2015 ◽  
Vol 46 (4) ◽  
pp. 1282-1296 ◽  
Author(s):  
Eva Troyb ◽  
Kelley Knoch ◽  
Lauren Herlihy ◽  
Michael C. Stevens ◽  
Chi-Ming Chen ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Predictors Of Outcome ◽  
Restricted And Repetitive Behaviors ◽  
Spectrum Disorders

scholarly journals SOCIAL STATUS AND GUT MICROBIAL DYSBIOSIS IN ADULTS AND CHILDREN WITH AUTISM SPECTRUM DISORDERS: A PROFOUND REVIEW OF THE AVAILABLE LITERATURE SOURCES

2021 ◽  
Vol 27 (3) ◽  
pp. 3939-3946
Author(s):  
Sevginar Ibryamova ◽  
◽  
Veselin Petkov ◽  
Tsveteslava Ignatova-Ivanova ◽  
Georgi Kolev ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Behavioral Problems ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Diagnostic Methods ◽  
Restricted Interests ◽  
Microbial Dysbiosis ◽  
Gastrointestinal Problems ◽  
Adults And Children ◽  
Spectrum Disorders

Autism is a complex disorder without a specific diagnosis, so the disease is defined by its specific characteristics described in the literature as cognitive defects, social, communication and behavioral problems, repetitive behaviors, unusual sensitivity to stimuli such as noise, restricted interests, and self stimulation. There are many models in the literature explaining the biology of autism, which are based on genetics, immunity, various environmental factors and diet. There is a lot of literature data that people with Autism Spectrum Disorders (ASD) often have gastrointestinal problems that also affect their behavior. ASD suffer developmental disabilities from an early age, which can be both physical and psychological. Often people suffer these problems even throughout their lives. This review aims to provide basic information on definitions, historical data, diagnostic methods, behavioral etiology, gastrointestinal and social problems in adults and children with ASD.

scholarly journals Altered Intestinal Morphology and Microbiota Composition in the Autism Spectrum Disorders Associated SHANK3 Mouse Model

2019 ◽  
Vol 20 (9) ◽  
pp. 2134 ◽  
Author(s):  
Ann Katrin Sauer ◽  
Juergen Bockmann ◽  
Konrad Steinestel ◽  
Tobias M. Boeckers ◽  
Andreas M. Grabrucker
Keyword(s):  
Autism Spectrum Disorders ◽  
Inflammatory Responses ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Intestinal Morphology ◽  
Microbiota Composition ◽  
Knock Out ◽  
E Coli ◽  
The Central Nervous System ◽  
Spectrum Disorders

Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders characterized by deficits in social interaction and communication, and repetitive behaviors. In addition, co-morbidities such as gastro-intestinal problems have frequently been reported. Mutations and deletion of proteins of the SH3 and multiple ankyrin repeat domains (SHANK) gene-family were identified in patients with ASD, and Shank knock-out mouse models display autism-like phenotypes. SHANK3 proteins are not only expressed in the central nervous system (CNS). Here, we show expression in gastrointestinal (GI) epithelium and report a significantly different GI morphology in Shank3 knock-out (KO) mice. Further, we detected a significantly altered microbiota composition measured in feces of Shank3 KO mice that may contribute to inflammatory responses affecting brain development. In line with this, we found higher E. coli lipopolysaccharide levels in liver samples of Shank3 KO mice, and detected an increase in Interleukin-6 and activated astrocytes in Shank3 KO mice. We conclude that apart from its well-known role in the CNS, SHANK3 plays a specific role in the GI tract that may contribute to the ASD phenotype by extracerebral mechanisms.

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