Top

Journal of Autism and Developmental Disorders

Gepubliceerd in:

12-06-2015 | Original Paper

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

Auteurs: Marian Reiff, Ellen Giarelli, Barbara A. Bernhardt, Ebony Easley, Nancy B. Spinner, Pamela L. Sankar, Surabhi Mulchandani

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 10/2015

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.

vorige artikel Low but Increasing Prevalence of Autism Spectrum Disorders in a French Area from Register-Based Data

volgende artikel Accurate or Assumed: Visual Learning in Children with ASD

Agency for Healthcare Research and Quality (AHRQ). (2014). Genetic testing for developmental disabilities, intellectual disability and autism spectrum disorders. (Technical Brief). Washington DC: Agency for Healthcare Research and Quality (AHRQ), US Department of Health and Human Services. Retrieved from http://effectivehealthcare.ahrq.gov/ehc/products/602/2024/genetic-testing-developmental-disabilities-draft-141215.pdf.

Ali-Khan, S. E., Daar, A. S., Shuman, C., Ray, P. N., & Scherer, S. W. (2009). Whole genome scanning: Resolving clinical diagnosis and management amidst complex data. Pediatric Research, 66(4), 357–363.CrossRefPubMed

Battaglia, A., Doccini, V., Bernardini, L., Novelli, A., Loddo, S., Capalbo, A., & Carey, J. C. (2013). Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. European Journal of Paediatric Neurology, 17(6), 589–599.CrossRefPubMed

Bazeley, P. (2007). Qualitative analysis with Nvivo. Thousand Oaks, CA: Sage Publications Ltd.

Beaudet, A. L. (2013). The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. Child Development, 84(1), 121–132.CrossRefPubMed

Bernard, H. R. (2013). Social research methods: Qualitative and quantitative approaches. Thousand Oaks, CA: Sage Publications.

Biesecker, B. B., & Erby, L. (2008). Adaptation to living with a genetic condition or risk: A mini-review. Clinical Genetics, 74(5), 401–407. doi:10.1111/j.1399-0004.2008.01088.x.PubMedCentralCrossRefPubMed

Bradbury, A. R., Patrick-Miller, L., & Domchek, S. (2014). Multiplex genetic testing: Reconsidering utility and informed consent in the era of next-generation sequencing. Genetics in Medicine, 17, 97–98.CrossRefPubMed

Burke, W., Laberge, A. M., & Press, N. (2010). Debating clinical utility. Public Health Genomics, 13(4), 215–223. doi:10.1159/000279623.PubMedCentralCrossRefPubMed

Carter, M., & Scherer, S. (2013). Autism spectrum disorder in the genetics clinic: A review. Clinical Genetics, 83(5), 399–407.CrossRefPubMed

Chao, S., Roberts, J. S., Marteau, T. M., Silliman, R., Cupples, L. A., & Green, R. C. (2008). Health behavior changes after genetic risk assessment for Alzheimer disease: The REVEAL study. Alzheimer Disease and Associated Disorders, 22(1), 94–97. doi:10.1097/WAD.0b013e31815a9dcc.PubMedCentralCrossRefPubMed

Chen, L., Xu, L., Huang, T., & Dhar, S. U. (2013). Autism genetic testing: A qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders. Genetics in Medicine, 15(4), 274–281.CrossRefPubMed

Condit, C. (2010). Public understandings of genetics and health. Clinical Genetics, 77(1), 1–9.CrossRefPubMed

Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., et al. (2011). A copy number variation morbidity map of developmental delay. Nature Genetics, 43, 838–846.PubMedCentralCrossRefPubMed

Coulter, M. E., Miller, D. T., Harris, D. J., Hawley, P., Picker, J., Roberts, A. E., & Irons, M. (2011). Chromosomal microarray testing influences medical management. Genetics in Medicine, 13(9), 770–776.CrossRefPubMed

Cuccaro, M. L., Czape, K., Alessandri, M., Lee, J., Deppen, A. R., Bendik, E., & Hahn, S. (2014). Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD). American Journal of Medical Genetics Part A, 164(10), 2592–2600.CrossRef

Darilek, S., Ward, P., Pursley, A., Plunkett, K., Furman, P., Magoulas, P., & Eng, C. M. (2008). Pre-and postnatal genetic testing by array-comparative genomic hybridization: Genetic counseling perspectives. Genetics in Medicine, 10(1), 13–18.CrossRefPubMed

Dar-Nimrod, I., & Heine, S. J. (2011). Genetic essentialism: On the deceptive determinism of DNA. Psychological Bulletin, 137(5), 800.PubMedCentralCrossRefPubMed

Dawson, G., Rogers, S., Munson, J., Smith, M., Winter, J., Greenson, J., & Varley, J. (2010). Randomized, controlled trial of an intervention for toddlers with autism: The Early Start Denver Model. Pediatrics, 125(1), e17–e23. doi:10.1542/peds.2009-0958. Epub 2009 Nov 30.CrossRefPubMed

Ellison, J. W., Ravnan, J. B., Rosenfeld, J. A., Morton, S. A., Neill, N. J., Williams, M. S., & Traylor, R. N. (2012). Clinical utility of chromosomal microarray analysis. Pediatrics, 130(5), e1085–e1095.CrossRefPubMed

Eriksson, M. A., Westerlund, J., Hedvall, Å., Åmark, P., Gillberg, C., & Fernell, E. (2013). Medical conditions affect the outcome of early intervention in preschool children with autism spectrum disorders. European Child and Adolescent Psychiatry, 22(1), 23–33.CrossRefPubMed

Fanos, J. H. (2012). New “first families”: The psychosocial impact of new genetic technologies. Genetics in Medicine, 14(2), 189–190.CrossRefPubMed

Foster, M. W., Mulvihill, J. J., & Sharp, R. R. (2009). Evaluating the utility of personal genomic information. Genetics in Medicine, 11(8), 570–574.CrossRefPubMed

Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., & Ormond, K. E. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15, 565–574.PubMedCentralCrossRefPubMed

Grosse, S. D., & Khoury, M. J. (2006). What is the clinical utility of genetic testing? Genetics in Medicine, 8(7), 448–450.CrossRefPubMed

Haga, S. B., Barry, W. T., Mills, R., Ginsburg, G. S., Svetkey, L., Sullivan, J., & Willard, H. F. (2013). Public knowledge of and attitudes toward genetics and genetic testing. Genetic Testing and Molecular Biomarkers, 17(4), 327–335.PubMedCentralCrossRefPubMed

Hayeems, R. Z., Hoang, N., Chenier, S., Stavropoulos, D. J., Pu, S., Weksberg, R., & Shuman, C. (2014). Capturing the clinical utility of genomic testing: Medical recommendations following pediatric microarray. European Journal of Human Genetics. doi:10.1038/ejhg.2014.260.

Hayward, D., Eikeseth, S., Gale, C., & Morgan, S. (2009). Assessing progress during treatment for young children with autism receiving intensive behavioural interventions. Autism : The International Journal of Research and Practice, 13(6), 613–633. doi:10.1177/1362361309340029.CrossRef

Heil, K. M., & Schaaf, C. P. (2013). The genetics of autism spectrum disorders—A guide for clinicians. Current Psychiatry Reports, 15(1), 1–8.CrossRef

Henderson, L. B., Applegate, C. D., Wohler, E., Sheridan, M. B., Hoover-Fong, J., & Batista, D. A. (2014). The impact of chromosomal microarray on clinical management: A retrospective analysis. Genetics in Medicine, 16, 657–664.

Kearney, H. M., Thorland, E. C., Brown, K. K., Quintero-Rivera, F., & South, S. T. (2011). American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genetics in Medicine, 13(7), 680–685.CrossRefPubMed

Kegley, J. (2003). An ethical imperative: Genetics education for physicians and patients. Medicine and Law, 22(2), 275–283.PubMed

Khoury, M. J., McBride, C. M., Schully, S. D., Ioannidis, J. P., Feero, W. G., Janssens, A. C. J., & Cargill, M. (2010). The scientific foundation for personal genomics: Recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genetics in Medicine, 11(8), 559–567.CrossRef

Lebowitz, M. S., Rosenthal, J. E., & Ahn, W. K. (2013). Effects of biological versus psychosocial explanations on stigmatization of children with ADHD. Journal of Attention Disorders. doi:10.1177/1087054712469255.

Lenhard, W., Breitenbach, E., Ebert, H., Schindelhauer-Deutscher, H. J., & Henn, W. (2005). Psychological benefit of diagnostic certainty for mothers of children with disabilities: Lessons from down syndrome. American Journal of Medical Genetics, 133A(2), 170–175. doi:10.1002/ajmg.a.30571.CrossRefPubMed

Lintas, C., & Persico, A. M. (2009). Autistic phenotypes and genetic testing: State-of-the-art for the clinical geneticist. Journal of Medical Genetics, 46(1), 1–8. doi:10.1136/jmg.2008.060871.PubMedCentralCrossRefPubMed

Lipinski, S. E., Lipinski, M. J., Biesecker, L. G., & Biesecker, B. B. (2006). Uncertainty and perceived personal control among parents of children with rare chromosome conditions: The role of genetic counseling. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 142(4), 232–240. doi:10.1002/ajmg.c.30107.CrossRef

Makela, N. L., Birch, P. H., Friedman, J. M., & Marra, C. A. (2009). Parental perceived value of a diagnosis for intellectual disability (ID): A qualitative comparison of families with and without a diagnosis for their child’s ID. American Journal of Medical Genetics. Part A, 149A(11), 2393–2402. doi:10.1002/ajmg.a.33050.CrossRefPubMed

Manning, M., & Hudgins, L. (2010). Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genetics in Medicine, 12(11), 742–745. doi:10.1097/GIM.0b013e3181f8baad.PubMedCentralCrossRefPubMed

McMahon, W. M., Baty, B. J., & Botkin, J. R. (2006). Genetic counseling and ethical issues for autism. American Journal of Medical Genetics - Seminars in Medical Genetics, 142(1), 52–57. doi:10.1002/ajmg.c.30082.CrossRef

Mefford, H. C., Batshaw, M. L., & Hoffman, E. P. (2012). Genomics, intellectual disability, and autism. New England Journal of Medicine, 366(8), 733–743.PubMedCentralCrossRefPubMed

Miles, M. B., & Huberman, A. M. (1994). Qualitative data analysis: An expanded sourcebook (2nd ed.). Thousand Oaks, CA: Sage.

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., & Epstein, C. J. (2010a). Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. The American Journal of Human Genetics, 86(5), 749–764.CrossRefPubMed

Miller, F. A., Hayeems, R. Z., & Bytautas, J. P. (2010b). What is a meaningful result? Disclosing the results of genomic research in autism to research participants. European Journal of Human Genetics, 18(8), 867–871.PubMedCentralCrossRefPubMed

Narcisa, V., Discenza, M., Vaccari, E., Rosen-Sheidley, B., Hardan, A. Y., & Couchon, E. (2012). Parental interest in a genetic risk assessment test for autism spectrum disorders. Clinical Pediatrics, 52(2), 139–146.CrossRefPubMed

Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., & Hurles, M. E. (2006). Global variation in copy number in the human genome. Nature, 444(7118), 444–454. doi:10.1038/nature05329.PubMedCentralCrossRefPubMed

Regier, D., Friedman, J., Makela, N. L., Ryan, M., & Marra, C. (2009). Valuing the benefit of diagnostic testing for genetic causes of idiopathic developmental disability: Willingness to pay from families of affected children. Clinical Genetics, 75(6), 514–521.CrossRefPubMed

Reiff, M., Bernhardt, B. A., Mulchandani, S., Soucier, D., Cornell, D., Pyeritz, R. E., & Spinner, N. B. (2012). “What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing. Genetics in Medicine, 14(2), 250–258.PubMedCentralCrossRefPubMed

Reiff, M., & Mulchandani, S. (2015). Integrating genetics into healthcare: Implications of genomic testing for individuals with autism spectrum disorders. In E. Giarelli, & K. Fisher (Eds.), Integrated healthcare for people with autism spectrum disorders: Interdisciplinary planning and delivery of care. Springfield, IL: Charles C. Thomas, Publishers, Ltd.

Reiff, M., Ross, K., Mulchandani, S., Propert, K. J., Pyeritz, R. E., Spinner, N. B., & Bernhardt, B. A. (2013). Physicians’ perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clinical Genetics, 83(1), 23–30.PubMedCentralCrossRefPubMed

Riggs, E. R., Wain, K. E., Riethmaier, D., Smith-Packard, B., Faucett, W., Hoppman, N., & Miller, D. T. (2014). Chromosomal microarray impacts clinical management. Clinical Genetics, 85(2), 147–153.CrossRefPubMed

Roberts, J. L., Hovanes, K., Dasouki, M., Manzardo, A. M., & Butler, M. G. (2014). Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Gene, 535(1), 70–78.PubMedCentralCrossRefPubMed

Rosas-Blum, E., Shirsat, P., & Leiner, M. (2007). Communicating genetic information: A difficult challenge for future pediatricians. BMC Medical Education, 7(1), 17.PubMedCentralCrossRefPubMed

Rossi, J., Newschaffer, C., & Yudell, M. (2013). Autism spectrum disorders, risk communication, and the problem of inadvertent harm. Kennedy Institute of Ethics Journal, 23(2), 105–138.CrossRefPubMed

Sasson, N. J., Lam, K., Parlier, M., Daniels, J. L., & Piven, J. (2013). Autism and the broad autism phenotype: Familial patterns and intergenerational transmission. Journal of Neurodevelopmental Disorders, 5(1), 11.PubMedCentralCrossRefPubMed

Schaefer, G. B., & Mendelsohn, N. J. (2013). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genetics in Medicine, 15(5), 399–407.CrossRefPubMed

Scherer, S. W., & Dawson, G. (2011). Risk factors for autism: Translating genomic discoveries into diagnostics. Human Genetics, 130(1), 123–148.CrossRefPubMed

Selkirk, C. G., McCarthy Veach, P., Lian, F., Schimmenti, L., & Leroy, B. S. (2009). Parents’ perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors. Journal of Genetic Counseling, 18(5), 507–519. doi:10.1007/s10897-009-9233-0.CrossRefPubMed

Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., & Miller, D. T. (2010). Clinical genetic testing for patients with autism spectrum disorders. Pediatrics, 125(4), e727–e735. doi:10.1542/peds.2009-1684.PubMedCentralCrossRefPubMed

Shen, J., Lincoln, S., & Miller, D. T. (2014). Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. Current Genetic Medicine Reports, 2(3), 124–134.CrossRef

Shen, J., & Miller, D. T. (2014). Advances in genetic diagnosis of autism spectrum disorders. Current Pediatrics Reports, 2(2), 71–81.CrossRef

Tabor, H. K., & Cho, M. K. (2007). Ethical implications of array comparative genomic hybridization in complex phenotypes: Points to consider in research. Genetics in Medicine, 9(9), 626–631. doi:10.1097/GIM.0b013e3181485688.PubMedCentralCrossRefPubMed

Talkowski, M. E., Minikel, E. V., & Gusella, J. F. (2014). Autism spectrum disorder genetics: Diverse genes with diverse clinical outcomes. Harvard Review of Psychiatry, 22(2), 65–75.CrossRefPubMed

Trottier, M., Roberts, W., Drmic, I., Scherer, S. W., Weksberg, R., Cytrynbaum, C., & Miller, F. A. (2013). Parents’ perspectives on participating in genetic research in autism. Journal of Autism and Developmental Disorders, 43(3), 556–568.CrossRefPubMed

Turbitt, E., Halliday, J., Amor, D., & Metcalfe, S. (2014). Preferences for results from genomic microarrays: Comparing parents and health care providers. Clinical Genetics, 87, 21–29. CrossRefPubMed

Veenstra-VanderWeele, J., Christian, S. L., & Cook, E. H. (2004). Autism as a paradigmatic complex genetic disorder. Annual Review of Genomics and Human Genetics, 5, 379–405. doi:10.1146/annurev.genom.5.061903.180050.CrossRefPubMed

Walsh, P., Elsabbagh, M., Bolton, P., & Singh, I. (2011). In search of biomarkers for autism: Scientific, social and ethical challenges. Nature Reviews Neuroscience, 12(10), 603–612.CrossRefPubMed

Warren, Z., McPheeters, M. L., Sathe, N., Foss-Feig, J. H., Glasser, A., & Veenstra-VanderWeele, J. (2011). A systematic review of early intensive intervention for autism spectrum disorders. Pediatrics, 127(5), e1303–e1311. doi:10.1542/peds.2011-0426.CrossRefPubMed

Yudell, M., Tabor, H. K., Dawson, G., Rossi, J., Newschaffer, C. J., & Working Group in Autism Risk Communication and Ethics. (2013). Priorities for autism spectrum disorder risk communication and ethics. Autism: The International Journal of Research and Practice, 17(6), 701–722. doi:10.1177/1362361312453511.CrossRef

Titel: Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders
Auteurs: Marian Reiff
Ellen Giarelli
Barbara A. Bernhardt
Ebony Easley
Nancy B. Spinner
Pamela L. Sankar
Surabhi Mulchandani
Publicatiedatum: 12-06-2015
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 10/2015
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-015-2489-3

Bohn Stafleu van Loghum

Deel dit onderdeel of sectie (kopieer de link)

Abstract

Log in om toegang te krijgen

Andere artikelen Uitgave 10/2015

Mechanisms of Anxiety Related Attentional Biases in Children with Autism Spectrum Disorder

Tracking Social Motivation Systems Deficits: The Affective Neuroscience View of Autism

Gender Differences in Vocational Rehabilitation Service Predictors of Successful Competitive Employment for Transition-Aged Individuals with Autism

Model Invariance Across Genders of the Broad Autism Phenotype Questionnaire

Defining Treatment Response and Symptom Remission for Anxiety Disorders in Pediatric Autism Spectrum Disorders Using the Pediatric Anxiety Rating Scale

Brief Report: Systematic Review of Rett Syndrome in Males