Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders
M Reiff, E Giarelli, BA Bernhardt, E Easley… - Journal of autism and …, 2015 - Springer
Journal of autism and developmental disorders, 2015•Springer
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 …
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 …
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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