High prevalence of pathologic copy number variants detected by chromosomal microarray in Swiss-Italian children with autism spectrum disorders

2015 ◽  
Vol 19 (3) ◽  
pp. 386-387 ◽  
Author(s):  
Giorgia Pellanda ◽  
Sebastiano A.G. Lava ◽  
Alessandra Ferrarini ◽  
Gian Paolo Ramelli
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number ◽  
Copy Number Variants ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
High Prevalence ◽  
Spectrum Disorders ◽  
Italian Children

scholarly journals Parent Perceptions of Environmental Triggers for Autism: A community-Based Pilot Study among Parents of Children with Autism Spectrum Disorders in Rural Settings

2020 ◽  
Vol 34 (2) ◽  
Author(s):  
Lei Xu ◽  
Jo Anne Balanay
Keyword(s):  
Autism Spectrum Disorders ◽  
Environmental Factors ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Contributing Factors ◽  
Face To Face ◽  
Parental Awareness ◽  
High Prevalence ◽  
Spectrum Disorders ◽  
Eastern North Carolina

Environmental factors have been increasingly identi ed as the cause of the current high prevalence of autism spectrum disorders (ASD). Objective: The purpose of this study is to understand parents’ perceptions regarding environmental in uence and autism. Methods: We conducted individual, face-to-face interviews with parents of children with ASD in Eastern North Carolina. Results: Our sample is comprised of 25 parents of children with autism with an average age of 39.08 and 68% were mothers. Our data indicated that 19 (76%) parents believed that environmental factors impacted the development of their children’s autism, half of whom indicated >50% of influence. Among these environmental triggers, food and water (52%), air pollution (40%), pesticides and cleaning products (20%) were the most identied contributing factors associated with the onset of autism. Conclusions: Our findings reflected some unmet needs to improve parental awareness of environmental triggers of ASD.

scholarly journals Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders

2019 ◽  
Vol 10 (1) ◽  
Author(s):  
L. D’Abate ◽  
S. Walker ◽  
R. K. C. Yuen ◽  
K. Tammimies ◽  
J. A. Buchanan ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number ◽  
Copy Number Variants ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Recurrence Prediction ◽  
Common Genetic Variants ◽  
Spectrum Disorders ◽  
Atypical Development ◽  
Research Consortium

AbstractIdentification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically.

scholarly journals Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

2013 ◽  
Vol 22 (1) ◽  
pp. 71-78 ◽  
Author(s):  
Caroline Nava ◽  
Boris Keren ◽  
Cyril Mignot ◽  
Agnès Rastetter ◽  
Sandra Chantot-Bastaraud ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Copy Number ◽  
Copy Number Variants ◽  
Autism Spectrum ◽  
Diagnostic Analysis ◽  
Snp Microarrays ◽  
Spectrum Disorders

HLA polymorphisms in Italian children with autism spectrum disorders: Results of a family based linkage study

2011 ◽  
Vol 230 (1-2) ◽  
pp. 135-142 ◽  
Author(s):  
Franca R. Guerini ◽  
Elisabetta Bolognesi ◽  
Matteo Chiappedi ◽  
Annalisa De Silvestri ◽  
Alessandro Ghezzo ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Linkage Study ◽  
Spectrum Disorders ◽  
Family Based ◽  
Italian Children

High prevalence of serum folate receptor autoantibodies in children with autism spectrum disorders

Biomarkers ◽  
2018 ◽  
Vol 23 (7) ◽  
pp. 622-624 ◽  
Author(s):  
Jiaxiu Zhou ◽  
Aiping Liu ◽  
Fusheng He ◽  
Ya Jin ◽  
Shaoming Zhou ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Folate Receptor ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Serum Folate ◽  
High Prevalence ◽  
Spectrum Disorders
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