title: Mothers' appreciation of chromosomal microarray analysis for autism spectrum disorder.
abstract: OBJECTIVE
  The aim of this study was to examine mothers' experiences with chromosomal microarray analysis (CMA) for a child with autism spectrum disorder (ASD).
  
  
  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.
  
  
  CONCLUSIONS
  The test "appreciated" in value when results could be linked to the phenotype.
authors.affiliation: College of Nursing and Health Professions, Doctoral Nursing Program, Drexel University.
authors.forename: Ellen
authors.initials: E
authors.lastname: Giarelli
authors.affiliation: Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Marian
authors.initials: M
authors.lastname: Reiff
mesh_terms: D000293:Adolescent; D000328:Adult; D000067877:Autism Spectrum Disorder / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005069:Evaluation Studies as Topic; D005260:Female; D006801:Humans; D007407:Interviews as Topic; D008134:Long-Term Care; D008297:Male; D046228:Microarray Analysis / Q000379:methods*; D008875:Middle Aged; D009034:Mother-Child Relations; D009035:Mothers / Q000523:psychology; D010342:Patient Acceptance of Health Care; D010549:Personal Satisfaction
keywords: Autism spectrum disorder; chromosomal microarray analysis; mothers; thematic analysis