Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Jan 17;44(2):51.
doi: 10.1007/s10875-024-01652-6.

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

Nadine Kridli  1 , Julie Sturza  2 , Thomas F Michniacki  3
Affiliations

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

Nadine Kridli et al. J Clin Immunol. .

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.

Keywords: Ataxia-telangiectasia; Inborn errors of immunity; Medical provider satisfaction; Patient-reported outcomes; Primary immunodeficiency; Quality of life.

PubMed Disclaimer

References

    1. Petley E, Yule A, Alexander S, Ojha S, Whitehouse WP. The natural history of ataxia-telangiectasia (A-T): a systematic review. Plos ONE. 2022;17(3):e0264177. https://doi.org/10.1371/journal.pone.0264177 . - DOI - PubMed - PMC
    1. van Os NJH, et al. Classic ataxia-telangiectasia: the phenotype of long-term survivors. J Neurol. 2020;267(3):830–7. https://doi.org/10.1007/s00415-019-09641-1 . - DOI - PubMed
    1. McGlashan HL, et al. Quality of life and neurological disability in children and young people with ataxia telangiectasia. Eur J Paediatr Neurol. 2022;40:34–9. https://doi.org/10.1016/j.ejpn.2022.07.004 . - DOI - PubMed
    1. Félix E, Gimenes AC, Costa-Carvalho BT. Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia. Pediatr Pulmonol. 2014;49(3):238–44. https://doi.org/10.1002/ppul.22828 . - DOI - PubMed
    1. Robinson CA. Trust, health care relationships, and chronic illness. Glob Qual Nurs Res. 2016;3:2333393616664823. https://doi.org/10.1177/2333393616664823 . - DOI - PubMed - PMC

LinkOut - more resources