Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders.
Marian ReiffEllen GiarelliBarbara A BernhardtEbony EasleyNancy B SpinnerPamela L SankarSurabhi MulchandaniPublished in: Journal of autism and developmental disorders (2016)
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.
Keyphrases
- autism spectrum disorder
- mental health
- healthcare
- young adults
- physical activity
- depressive symptoms
- social support
- copy number
- primary care
- public health
- intellectual disability
- health information
- type diabetes
- clinical practice
- skeletal muscle
- metabolic syndrome
- risk assessment
- social media
- dna methylation
- weight loss
- working memory
- glycemic control
- health promotion