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ERIC Number: EJ1468813
Record Type: Journal
Publication Date: 2025-May
Pages: 15
Abstractor: As Provided
ISBN: N/A
ISSN: ISSN-0162-3257
EISSN: EISSN-1573-3432
Available Date: 2024-04-05
Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions
Julia Wynn1; Anna Karlsen2; Benjamin Huber3; Alina Levine3; Amanie Salem4; L. Casey White5; Marti Luby5; Ekaterina Bezborodko4; Sabrina Xiao5; Wendy K. Chung1,5,6; Robert L. Klitzman7; Paul S. Appelbaum8
Journal of Autism and Developmental Disorders, v55 n5 p1809-1823 2025
Genetic testing is recommended as part of an autism assessment, and most parents support genetic testing for their minor children. However, the impact on parents of receiving a monogenetic/ copy number variant diagnosis for autism in their child is not well understood. To explore this, we surveyed and interviewed parents of children in the SPARK study, a study of autism that includes genetic testing. Surveys were administered one month before and one and 12 months after parents received their child's genetic result. Interviews were conducted approximately one month after results disclosure. A genetic diagnosis (GD) for their child appeared to reduce parents' sense of self-blame and feelings of guilt, and this impact was relatively stable. The data also indicate a modest impact on parents' actions related to the condition, perceptions of themselves, and some aspects of life planning for their child, as measured by quantitative instruments at one month and 12 months after receipt of results. Other measures of parental identity and expectations for their child, in contrast, showed little change following receipt of genetic findings. Overall, parents who were told that no GD was identified showed minimal changes in their responses over time. These results suggest a discernable but relatively limited impact of genetic test results on parents of children with autism. These results should be reassuring to clinicians caring for children with autism and are consistent with studies in other areas of medicine that have suggested that genetic results tend to have fewer effects--negative or positive--than were anticipated.
Springer. Available from: Springer Nature. One New York Plaza, Suite 4600, New York, NY 10004. Tel: 800-777-4643; Tel: 212-460-1500; Fax: 212-460-1700; e-mail: customerservice@springernature.com; Web site: https://link-springer-com.bibliotheek.ehb.be/
Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: National Human Genome Research Institute (NHGRI) (DHHS/NIH)
Authoring Institution: N/A
Grant or Contract Numbers: RM1HG007257
Author Affiliations: 1Columbia University Irving Medical Center, Department of Pediatrics, New York, USA; 2Columbia University, Columbia University Genetic Counseling Graduate Program, Vagelos College of Physicians and Surgeons, New York, USA; 3Columbia University Irving Medical Center, Department of Epidemiology, New York, USA; 4Columbia University Irving Medical Center, Department of Psychiatry, New York, USA; 5Simons Foundation, New York, USA; 6Harvard Medical School, Boston Children’s Hospital, Boston, USA; 7Columbia University, Department of Psychiatry and Masters of Bioethics Program, and New York State Psychiatric Institute, New York, USA; 8Columbia University Irving Medical Center, Department of Psychiatry, and New York State Psychiatric Institute, New York, USA