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Accepted (AM)Open Access (License Unspecified), Open
Journal article
Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders
Journal of autism and developmental disorders, v 45(10), pp 3262-3275
Oct 2015
PMID: 26066358
Featured in Collection : UN Sustainable Development Goals @ Drexel
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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Details
- Title
- Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders
- Creators
- Marian Reiff - University of PennsylvaniaEllen Giarelli - Drexel UniversityBarbara A Bernhardt - University of PennsylvaniaEbony Easley - University of PennsylvaniaNancy B Spinner - Children's Hospital of PhiladelphiaPamela L Sankar - University of PennsylvaniaSurabhi Mulchandani - Children's Hospital of Philadelphia
- Publication Details
- Journal of autism and developmental disorders, v 45(10), pp 3262-3275
- Publisher
- Springer Nature
- Grant note
- R21 HG006560 / NHGRI NIH HHS
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- [Retired Faculty]
- Web of Science ID
- WOS:000361430200018
- Scopus ID
- 2-s2.0-84941935819
- Other Identifier
- 991019169571704721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Psychology, Developmental