Mothers' appreciation of chromosomal microarray analysis for autism spectrum disorder

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.