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Mothers' appreciation of chromosomal microarray analysis for autism spectrum disorder
Ellen Giarelli1, Marian Reiff2
1College of Nursing and Health Professions, Doctoral Nursing Program, Drexel University.
Purpose:
The aim of this study was to examine mothers' experiences with chromosomal microarray analysis (CMA) for a child with autism spectrum disorder (ASD).
Design And Methods:
This is a descriptive qualitative study using thematic content analysis of in-depth interview with 48 mothers of children who had genetic testing for ASD.
Results:
The principal theme, "something is missing," included missing knowledge about genetics, information on use of the results, explanations of the relevance to the diagnosis, and relevance to life-long care. Two subordinate themes were (a) disappreciation of the helpfulness of scientific information to explain the diagnosis, and (b) returning to personal experience for interpretation.
Practice Implications:
The test "appreciated" in value when results could be linked to the phenotype.
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02:34DNA Microarrays
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