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Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients

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Abstract

Purpose

Ataxia-telangiectasia (A-T) is a rare genetic condition with malfunctioning DNA repair processes resulting in significant clinical findings, including progressive neurologic decline, elevated malignancy risk, immunodeficiency, oculocutaneous telangiectasias, and severe pulmonary disease. Research has been limited into the quality of life of such patients and yet to be completed are studies quantitatively analyzing psychosocial, physical, and cognitive patient-reported outcomes (PROs) within the A-T population.

Methods

PRO evaluations of 90 international adult and pediatric A-T patients and their caregivers were completed via secure online administration of Patient-Reported Outcomes Measurement Information System (PROMIS) short forms evaluating anger, cognition, mood, social health, fatigue, pain, anxiety, and upper extremity function. The impact of age, gender, race/ethnicity, prior malignancy diagnosis, and current supportive treatment interventions on such PROs was additionally assessed. Finally, given the importance of medical providers in the care of A-T patients and the impact of patient satisfaction on healthcare outcomes, we further analyzed, via a novel survey, how patients and caregivers perceived their primary A-T healthcare provider’s A-T expertise, trustworthiness, accessibility, and level of compassion.

Results/Conclusion

It was found that a diagnosis of A-T complexly impacts patient PROs, but such data offers the potential for preventative and therapeutic interventions to improve the care of such patients. While most A-T patients and their caregivers feel their primary A-T medical provider has expertise and compassion in addition to being accessible and trustworthy, a significant percentage of study subjects did not agree that their provider was an expert in A-T or overall trustworthy.

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Data Availability

The datasets generated and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

Thank you to the A-T patients and families who participated in the study. Thank you to the A-T Children’s Project, particularly Ms. Jennifer Thornton. More information about the organization can be found at www.atcp.org.

Author information

Authors and Affiliations

  1. University of Massachusetts Chan Medical School, Worcester, MA, USA

    Nadine Kridli

  2. Department of Statistics, University of Michigan, Ann Arbor, MI, USA

    Julie Sturza

  3. Department of Pediatrics, Pediatric Hematology/Oncology, University of Michigan, D4202 Medical Professional Building, 1500 E. Medical Center Drive, Ann Arbor, MI, 48109-5718, USA

    Thomas F. Michniacki

Authors
  1. Nadine Kridli
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  2. Julie Sturza
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  3. Thomas F. Michniacki
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Contributions

NK and TM drafted the original manuscript. JS provided edits to the manuscript and statistical support for the project.

Corresponding author

Correspondence to Thomas F. Michniacki.

Ethics declarations

Ethics Approval

This study was performed in line with the principles of the Declaration of Helsinki. Study approval was secured via the University of Michigan institutional review board (HUM00148246).

Consent to Participate

Informed consent was obtained from all individual participants included in the study.

Competing Interests

The authors have no relevant financial or non-financial interests to disclose. PROMIS measures are publicly available for use in one’s individual research, clinical practice, educational assessment, or other applications without licensing or royalty fees. This individual and non-commercial research study was facilitated through a tax-exempt academic institution and was therefore exempt from licensing fees.

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Kridli, N., Sturza, J. & Michniacki, T.F. Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients. J Clin Immunol 44, 51 (2024). https://doi.org/10.1007/s10875-024-01652-6

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  • DOI: https://doi.org/10.1007/s10875-024-01652-6

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