Literature DB >> 29879582

Genetic testing and autism: Tutorial for communication sciences and disorders.

Laura S DeThorne1, Stephanie Ceman2.   

Abstract

This tutorial provides professionals in communication sciences and disorders with an overview of the molecular basis and parental perceptions of genetic testing as associated with autism. The introduction notes the prominence of genetic testing within present-day medical practices and highlights related limitations and concerns through the lens of disability critique. The body of the tutorial provides an overview of four different forms of genetic variation, highlighting the potential associations with autism and available genetic testing. In sum, most autism cases cannot be associated directly with specified forms of genetic variation but are attributed instead to multiple genetic and environmental influences working in concert. Finally, the discussion focuses on parental perceptions of the genetic testing associated with autism, both the potential benefits and harms, and emphasizes the need to integrate first-person perspectives from autistic individuals.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Autism; Disability critique; Genetic testing; Geneticization; Neurodiversity

Mesh:

Year:  2018        PMID: 29879582      PMCID: PMC6083877          DOI: 10.1016/j.jcomdis.2018.05.003

Source DB:  PubMed          Journal:  J Commun Disord        ISSN: 0021-9924            Impact factor:   2.288


  75 in total

1.  Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y.

Authors:  K H Nicolaides; A Syngelaki; M Gil; V Atanasova; D Markova
Journal:  Prenat Diagn       Date:  2013-04-24       Impact factor: 3.050

2.  What are the most common first-trimester ultrasound findings in cases of Turner syndrome?

Authors:  Marcin Wiechec; Anna Knafel; Agnieszka Nocun; Ewa Wiercinska; Artur Ludwin; Inga Ludwin
Journal:  J Matern Fetal Neonatal Med       Date:  2016-08-29

3.  Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis.

Authors:  Kypros H Nicolaides; Thomas J Musci; Craig A Struble; Argyro Syngelaki; M M Gil
Journal:  Fetal Diagn Ther       Date:  2013-12-11       Impact factor: 2.587

Review 4.  Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting.

Authors:  Catalina Betancur
Journal:  Brain Res       Date:  2010-12-01       Impact factor: 3.252

5.  Variation in genome-wide mutation rates within and between human families.

Authors:  Donald F Conrad; Jonathan E M Keebler; Mark A DePristo; Sarah J Lindsay; Yujun Zhang; Ferran Casals; Youssef Idaghdour; Chris L Hartl; Carlos Torroja; Kiran V Garimella; Martine Zilversmit; Reed Cartwright; Guy A Rouleau; Mark Daly; Eric A Stone; Matthew E Hurles; Philip Awadalla
Journal:  Nat Genet       Date:  2011-06-12       Impact factor: 38.330

Review 6.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

7.  Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

Authors:  Stephan J Sanders; Xin He; A Jeremy Willsey; A Gulhan Ercan-Sencicek; Kaitlin E Samocha; A Ercument Cicek; Michael T Murtha; Vanessa H Bal; Somer L Bishop; Shan Dong; Arthur P Goldberg; Cai Jinlu; John F Keaney; Lambertus Klei; Jeffrey D Mandell; Daniel Moreno-De-Luca; Christopher S Poultney; Elise B Robinson; Louw Smith; Tor Solli-Nowlan; Mack Y Su; Nicole A Teran; Michael F Walker; Donna M Werling; Arthur L Beaudet; Rita M Cantor; Eric Fombonne; Daniel H Geschwind; Dorothy E Grice; Catherine Lord; Jennifer K Lowe; Shrikant M Mane; Donna M Martin; Eric M Morrow; Michael E Talkowski; James S Sutcliffe; Christopher A Walsh; Timothy W Yu; David H Ledbetter; Christa Lese Martin; Edwin H Cook; Joseph D Buxbaum; Mark J Daly; Bernie Devlin; Kathryn Roeder; Matthew W State
Journal:  Neuron       Date:  2015-09-23       Impact factor: 17.173

8.  Parental interest in a genetic risk assessment test for autism spectrum disorders.

Authors:  Vivien Narcisa; Marie Discenza; Erica Vaccari; Beth Rosen-Sheidley; Antonio Y Hardan; Elizabeth Couchon
Journal:  Clin Pediatr (Phila)       Date:  2012-11-27       Impact factor: 1.168

Review 9.  Autism spectrum disorders--a genetics review.

Authors:  Judith H Miles
Journal:  Genet Med       Date:  2011-04       Impact factor: 8.822

10.  Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders.

Authors:  Lei-Shih Chen; Lei Xu; Tse-Yang Huang; Shweta U Dhar
Journal:  Genet Med       Date:  2013-01-03       Impact factor: 8.822

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  1 in total

1.  Is Serum TGF-β1 and TGF-β2 levels Correlated to Children with Autism Intensity?

Authors:  Jamshid Yousefi; Mohammad Reza Khakzad; Maryam Hojati; Seyed Ali Ebrahimi; Mitra Hosseinpour; Javad Akhondian
Journal:  Iran J Child Neurol       Date:  2021-03-01
  1 in total

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