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Impact of Receiving Genetic Diagnoses on Parents’ Perceptions of Their Children with Autism and Intellectual Disability

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Abstract

To assess whether genetic test results identifying the cause of a child’s autism, when accompanied by other neurodevelopmental disorders (NDD), including intellectual disability, alter how parents perceive and treat their child. 28 parents of 22 individuals with autism (mean age: 15 years), usually with other NDDs, were interviewed after receiving genetic diagnoses indicating a de novo mutation through the Simons Foundation Powering Autism Research for Knowledge study. Diagnosis of a de novo genetic variant can alter parental perceptions of offspring with autism and other NDDs. Parents often blamed their child less, saw their child as less in control of symptoms, and developed more patience, framing expectations accordingly. Parents had mixed feelings about receiving genetic diagnoses, with sadness sometimes accompanying reframed expectations. Genetic diagnoses could change views of the child among extended family members, teachers, social service agencies, insurers, and broader communities and society. Genetic testing might also reduce delays in diagnoses of autism among African American, Latino and other children. These data, the first to examine several critical aspects of how parents and others view children with autism and other NDDs after receiving genetic diagnoses, highlight vital needs for education of multiple stakeholders (including geneticists, other physicians, genetic counselors, parents, individuals with autism, social service agencies, insurers, policymakers, and the broader public), research (to include perspectives of extended family members, insurers, social service agencies and teachers) and practice (to increase recognition and awareness of the potential benefits and effects of genetic testing for such children).

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Acknowledgements

Research leading to these results received funding from National Human Genome Research Institute (NHGRI), NIH Center for Excellence in ELSI Research (CEER) #RM1HG007257-06 (Paul Appelbaum, PI), and SPARK: Simons Powering Autism Research. The authors would like to thank Timothy Keith Hung, Beverly Gu, Rebecca Grinberg and especially Patricia Contino for their assistance with the manuscript; and the staff of the SPARK study for facilitating our access to these participants.

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Authors and Affiliations

  1. Department of Psychiatry, Vagelos College of Physicians and Surgeons, Joseph L. Mailman School of Public Health, Columbia University, 1051 Riverside Drive; Mail Unit #15, New York, NY, 10032, USA

    Robert Klitzman

  2. Department of Law Ethics and Psychiatry, Columbia University, New York, NY, USA

    Ekaterina Bezborodko

  3. Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Wendy K. Chung

  4. Department of Law Ethics and Psychiatry, Columbia University Irving Medical Center, New York Presbyterian Hospital, New York, NY, USA

    Paul S. Appelbaum

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  1. Robert Klitzman
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  4. Paul S. Appelbaum
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Robert Klitzman, Paul S. Appelbaum, Wendy K. Chung, and Ekaterina Bezborodko contributed to the conceptualization, writing, data analysis, revising and drafting of the article.

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Correspondence to Robert Klitzman.

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Klitzman, R., Bezborodko, E., Chung, W.K. et al. Impact of Receiving Genetic Diagnoses on Parents’ Perceptions of Their Children with Autism and Intellectual Disability. J Autism Dev Disord (2023). https://doi.org/10.1007/s10803-023-06195-0

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