Top

Journal of Autism and Developmental Disorders

Gepubliceerd in:

01-03-2013

Parents’ Perspectives on Participating in Genetic Research in Autism

Auteurs: Magan Trottier, Wendy Roberts, Irene Drmic, Stephen W. Scherer, Rosanna Weksberg, Cheryl Cytrynbaum, David Chitayat, Cheryl Shuman, Fiona A. Miller

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 3/2013

Abstract

Genetic research in autism depends on the willingness of individuals with autism to participate; thus, there is a duty to assess participants’ needs in the research process. We report on families’ motives and expectations related to their participation in autism genetic research. Respondents valued having a genetic result, as it alleviates guilt, promotes awareness, and may be used to tailor interventions and for family planning. The act of participating was distinctly significant, as it provided personal control, a connection to autism experts, networking with families, and hope for the future. The results of this study highlight complex factors involved in families’ decisions to participate in autism genetic research and provide points to consider for this population of research participants.

vorige artikel A Parent-Mediated Intervention to Increase Responsive Parental Behaviors and Child Communication in Children with ASD: A Randomized Clinical Trial

volgende artikel Effects of Computer Simulation Training on In Vivo Discrete Trial Teaching

Abelson, J., Miller, F. A., & Giacomini, M. (2009). What does it mean to trust a health care system? A qualitative study of Canadian health care values. Health Policy, 91(1), 60–63.CrossRef

Bailey, A., LeCouteur, A., Gottesman, I., Bolton, P., Siminoff, E., Yuzda, E., et al. (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. Psychological Medicine, 25(1), 63–77.PubMedCrossRef

Baret, L., & Godard, B. (2011). Opinions and intentions of parents of an autistic child toward genetic results: Two typical profiles. European Journal of Human Genetics, 19(11), 1127–1132.PubMedCrossRef

Berkenstadt, M., Shiloh, S., Barkai, G., Katznelson, M. B., & Goldman, B. (1999). Perceived personal control (PPC): A new concept in measuring outcome of genetic counseling. American Journal of Medical Genetics, 82(1), 53–59.PubMedCrossRef

Bouma, R., & Schweitzer, R. (1990). The impact of chronic childhood illness on family stress: A comparison between autism and cystic fibrosis. Journal of Clinical Psychology, 46(6), 722–730.PubMedCrossRef

Canvin, K., & Jacoby, A. (2006). Duty, desire or indifference? A qualitative study of patient decisions about recruitment to an epilepsy treatment trial. Trials, 12(7), 19–32.

Charmaz, K. (2000). Grounded theory objectives and constructive methods (2nd ed., pp. 509–535). Thousand Oaks, CA: Sage.

Codori, A. M., Waldeck, T., Petersen, G. M., Miglioretti, D., Trimbath, J. D., & Tillery, M. A. (2005). Genetic counseling outcomes: Perceived risk and distress after counseling for hereditary colorectal cancer. Journal of Genetic Counseling, 14(2), 119–132.PubMedCrossRef

Cook, E. H., Jr., & Scherer, S. W. (2008). Copy-number variations associated with neuropsychiatric conditions. Nature, 455(7215), 919–923.PubMedCrossRef

Croyle, R. T., Dutson, D. S., Tran, V. T., & Sun, Y. C. (1995). Need for certainty and interest in genetic testing. Women’s Health, 1(4), 329–339.PubMed

Folstein, S., & Rutter, M. (1977). Genetic influences and infantile autism. Nature, 265(5596), 726–728.PubMedCrossRef

Fombonne, E. (2005). Epidemiological studies of autism and pervasive developmental disorders. In F. Volkmar (Ed.), Handbook of autism and pervasive developmental disorders (3rd ed., pp. 42–69). New York: Wiley.

Geller, G., Tambor, E. S., Chase, G. A., & Holtzman, N. A. (1993). Measuring physicians’ tolerance for ambiguity and its relationship to their reported practices regarding genetic testing. Medical Care, 31(11), 989–1001.PubMedCrossRef

Guest, G., Bunce, A., & Johnson, L. (2006). How many interviews are enough? An experiment with data saturation and variability. Field Methods, 18(1), 59–82.CrossRef

Hallowell, N., Cooke, S., Crawford, G., Lucassen, A., Parker, M., & Snowdon, C. (2010). An investigation of patients’ motivations for their participation in genetics-related research. Journal of Medical Ethics, 36(1), 37–45.PubMedCrossRef

Hayeems, R. Z., Miller, F. A., Li, L., & Bytautas, J. P. (2011). Not so simple: A quasi-experimental study of how researchers adjudicate genetic research results. European Journal of Human Genetics, 19(7), 1–8.CrossRef

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, 142C(4), 232–240.PubMedCrossRef

MacLeod, R., Craufurd, D., & Booth, K. (2003). Patients’ perceptions of what makes genetic counseling effective: An interpretative phenomenological analysis. Journal of Health Psychology, 7(2), 145–156.CrossRef

Madsen, S. M., Mirza, M. R., Holm, S., Hilsted, K. L., Kampmann, K., & Riis, P. (2002). Attitudes towards clinical research amongst participants and nonparticipants. Journal of Internal Medicine, 251(2), 156–168.PubMedCrossRef

Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., et al. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics, 82(2), 477–488.PubMedCrossRef

McAllister, M., Wood, A. M., Dunn, G., Shiloh, S., & Todd, C. (2011). The perceived personal control (PPC) questionnaire: Reliability and validity in a sample from the United Kingdom. American Journal of Medical Genetics, 158A(2), 367–372.PubMed

Meiser, B., & Dunn, S. (2001). Psychological effect of genetic testing for Huntington’s disease: An update of the literature. Western Journal of Medicine, 174(5), 336–340.PubMedCrossRef

Meiser, B., Mitchell, P. B., McGirr, H., Van Herten, M., & Schofield, P. R. (2005). Implications of genetic risk information in families with a high density of bipolar disorder: An exploratory study. Social Science and Medicine, 60(1), 109–118.PubMedCrossRef

Meulenkamp, T. M., Gevers, S. K., Bovenberg, J. A., Koppelman, G. H., van Hylckama Vlieg, A., & Smets, E. M. (2010). Communication of biobanks’ research results: What do (potential) participants want? American Journal of Medical Genetics, 152A(10), 2482–2492.PubMedCrossRef

Miller, F. A., Giacomini, M., Ahern, C., Roberts, J. S., & de Laat, S. (2008). When research seems like clinical care: A qualitative study of the communication of individual cancer genetic research results. BMC Medical Ethics, 9(4), 1–12.

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

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.PubMedCrossRef

Miller, F. A., Hayeems, R. Z., & Bytautas, J. P. (2012a). What does ‘respect for persons’ require? Attitudes and reported practices of genetics researchers in informing research participants about research. Journal of Medical Ethics, 38(1), 48–52.PubMedCrossRef

Miller, F. A., Hayeems, R. Z., Li, L., & Bytautas, J. P. (2012b). One thing leads to another: The cascade of obligations when researchers report genetic research results to study participants. European Journal of Human Genetics, 18(8), 867–871.CrossRef

Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., et al. (2011). Recurrence risk for autism spectrum disorders: A baby sibling’s research consortium study. Pediatrics, 128(3), e488–e495.PubMed

Patton, M. Q. (2002). Qualitative research and evaluation methods (3rd ed.). Thousand Oaks/London/Delhi: Sage.

Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., et al. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466(7304), 368–372.PubMedCrossRef

Quillin, J. M., Silberg, J., Jones, R. M., Wilson, D. B., Maes, H., Bowen, D., et al. (2008). Tolerance for ambiguity could influence awareness of breast cancer genetic testing and inform health education. Cancer Causes and Control, 19(10), 1227–1232.PubMedCrossRef

Richards, M. P., Ponder, M., Pharoah, P., Everest, S., & Mackay, J. (2003). Issues of consent and feedback in a genetic epidemiological study of women with breast cancer. Journal of Medical Ethics, 29(2), 93–96.PubMedCrossRef

Ritvo, E. R., Jorde, L. B., Mason-Brothers, A., Freeman, B. J., Pingree, C., Jones, M. B., et al. (1989). The UCLA-University of Utah epidemiologic survey of autism: Recurrence risk estimates and genetic counseling. American Journal of Psychiatry, 146(8), 1032–1036.PubMed

Sanders, J., & Morgan, S. (1997). Family stress and adjustment as perceived by parents of children with autism or Down syndrome: Implications for interventions. Child & Family Behavior Therapy, 19(4), 15–32.CrossRef

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

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., et al. (2007). Strong association of de novo copy number mutations with autism. Science, 316(5823), 445–449.PubMedCrossRef

Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., et al. (2010). Clinical genetic testing for patients with autism spectrum disorders. Pediatrics, 125(4), 727–735.CrossRef

Simons Foundation. (2010). Simons VIP connect: Simons variation in individuals project (VIP). Copyright, Simons Foundation, 2010. http://www.simonsvipconnect.org/. Accessed March 16, 2012.

Slevin, M., Mossman, J., Bowling, A., Leonard, R., Steward, W., Harper, P., et al. (1995). Volunteers or victims: Patients’ views of randomised cancer clinical trials. British Journal of Cancer, 71(6), 1270–1274.PubMedCrossRef

State, M. W., & Levitt, P. (2011). The conundrums of understanding genetic risks for autism spectrum disorders. Nature Neuroscience, 14(12), 1499–1506.PubMedCrossRef

Stolt, G. U., Liss, P. E., Svensson, T., & Ludvigsson, J. (2002). Attitudes to bioethical issues: A case study of a screening project. Social Science and Medicine, 54(9), 1333–1344.PubMedCrossRef

Szatmari, P., Paterson, A. D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X., et al. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39(3), 319–328.PubMedCrossRef

Tabor, H., & Cho, M. (2007). Ethical implications of array comparative genomic hybridization in complex phenotypes: Points to consider in research. Genetics in Medicine, 9(9), 626–631.PubMedCrossRef

Tambor, E. S., Bernhardt, B. A., Chase, G. A., Faden, R. R., Geller, G., Hofman, K. J., et al. (1994). Offering cystic fibrosis carrier screening to an HMP population: Factors associated with utilization. American Journal of Human Genetics, 55(4), 626–637.PubMed

Treloar, S. A., Morley, K. I., Taylor, S. D., & Hall, W. D. (2007). Why do they do it? A pilot study towards understanding participant motivation and experience in a large genetic epidemiological study of endometriosis. Community Genetics, 10(2), 60–71.CrossRef

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

Webb, S. (2010). Drugmakers dance with autism. Nature Biotechnology, 28(8), 772–774.PubMedCrossRef

Weiss, M. (2002). Hardiness and social support as predictors of stress in mothers of typical children, children with autism, and children with mental retardation. Autism, 6(1), 115–130.PubMedCrossRef

Titel: Parents’ Perspectives on Participating in Genetic Research in Autism
Auteurs: Magan Trottier
Wendy Roberts
Irene Drmic
Stephen W. Scherer
Rosanna Weksberg
Cheryl Cytrynbaum
David Chitayat
Cheryl Shuman
Fiona A. Miller
Publicatiedatum: 01-03-2013
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 3/2013
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-012-1592-y

Bohn Stafleu van Loghum

Deel dit onderdeel of sectie (kopieer de link)

Abstract

Log in om toegang te krijgen

Andere artikelen Uitgave 3/2013

Effects of Computer Simulation Training on In Vivo Discrete Trial Teaching

Emotional Resonance Deficits in Autistic Children

A Systematic Review of Psychosocial Interventions for Adults with Autism Spectrum Disorders

Erratum to: Prevalence of Psychotropic Drug Use in Adults with Intellectual Disability: Positive and Negative Findings from a Large Scale Study

Is Infertility Associated with Childhood Autism?

Brief Report: Social Disability in Autism Spectrum Disorder: Results from Research Units on Pediatric Psychopharmacology (RUPP) Autism Network Trials