“Down Syndrome is Not a Curse”: parent Perspectives on the Medicalization of Down Syndrome

Abstract

Background

Potential clinical interventions to mitigate or eliminate symptoms of Down syndrome (DS) continue to be an active area of pre-clinical and clinical research. However, views of members of the DS community have yet to be fully explored.

Methods

We conducted a survey with parents/caregivers of people with DS (n = 532) to explore interest in potential therapeutic approaches during fetal development or childhood that may improve neurocognition and modulate the DS phenotype. We qualitatively analyzed open-ended responses.

Results

Some respondents rejected the development of therapies for DS categorically as being fundamentally ableist and promoting the erasure of diverse individuals. Many reflected tensions between the desire to improve quality of life and an aversion to erasure of a child’s personality.

Conclusion

Findings suggest that views on identity, personality, and disability may influence the acceptance of new interventions, especially if they are thought to mitigate positive attributes of the phenotype or negatively influence social acceptance of people with DS.

LAY SUMMARY

• Prenatal and pediatric approaches to reduce the signs of Down syndrome are being investigated.

• Parents of children with Down syndrome expressed conflicted feelings about the idea of removing signs of Down syndrome from their child.

• Many parents expressed that Down syndrome was a valued part of their child and should not be taken away.

• Findings suggest that greater communication between the Down syndrome community and the research community is necessary to ensure that research aligns with their values and priorities of the patient community.

Keywords:

• Down syndrome
• medical model of disability
• social model of disability
• Trisomy 21
• chromosome silencing

Acknowledgements

The authors would like to acknowledge the participants who shared their experiences with us.

Authors’ contributions

Marsha Michie and Megan Allyse contributed to the study conception, design, and data collection. Data analysis was performed by Kirsten Riggan. The first draft of the manuscript was written by Kirsten Riggan and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Consent to participate

Informed consent was obtained for all individuals who voluntarily completed the online survey.

Disclosure statement

The authors have no competing interests to declare that are relevant to the content of this article.

Ethical approval

This study was determined to be exempt from requiring ethics approval by Mayo Clinic’s Institutional Review Board (#17-004368) and was performed in accordance with the ethical standards in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

Data availability statement

The data that supports the findings of this article are available from the corresponding author upon reasonable request

Additional information

Funding

This work was supported by the Mayo Clinic Center for Individualized Medicine. Dr. Michie was additionally supported by R00HG006452. This study was also supported by Grant Number UL1TR002377 from the National Center for Advancing Translational Sciences (NCATS). Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the NIH.