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Gepubliceerd in: Journal of Autism and Developmental Disorders 10/2015

12-06-2015 | Original Paper

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

Auteurs: Marian Reiff, Ellen Giarelli, Barbara A. Bernhardt, Ebony Easley, Nancy B. Spinner, Pamela L. Sankar, Surabhi Mulchandani

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 10/2015

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Abstract

Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with autism spectrum disorders (ASDs). We explored the test’s perceived usefulness among parents of children with ASD who had undergone CMA, and received a result categorized as pathogenic, variant of uncertain significance, or negative. Fifty-seven parents participated in a semi-structured telephone interview, and 50 also completed a survey. Most parents reported that CMA was helpful for their child and family. Major themes regarding perceived usefulness were: medical care, educational and behavioral interventions, causal explanation, information for family members, and advancing knowledge. Limits to utility, uncertainties and negative outcomes were also identified. Our findings highlight the importance of considering both health and non-health related utility in genomic testing.
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Metagegevens
Titel
Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders
Auteurs
Marian Reiff
Ellen Giarelli
Barbara A. Bernhardt
Ebony Easley
Nancy B. Spinner
Pamela L. Sankar
Surabhi Mulchandani
Publicatiedatum
12-06-2015
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 10/2015
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-015-2489-3

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