Related Experiment Video
Updated: Dec 8, 2025
Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development
Published on: May 17, 2024
Transition Readiness Assessment in Adolescents and Young Adults with Neurofibromatosis Type 1 (NF1)
Allison Goetsch Weisman1,2, Tina Haws3, Joanna Lee1,2,4
1Division of Genetics, Birth Defects & Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Insights
Individuals with Neurofibromatosis type 1 (NF1) show lower transition readiness, impacting young adult life. Developing NF1-specific healthcare transition (HCT) interventions is crucial for improving care and quality of life.
Area of Science:
- Medical Genetics
- Pediatric Oncology
- Adolescent Medicine
Background:
- Neurofibromatosis type 1 (NF1) significantly impacts quality of life and health outcomes.
- Healthcare transition (HCT) interventions improve care and outcomes in other patient groups.
- Assessing transition readiness in NF1 is essential for developing targeted interventions.
Purpose of the Study:
- To assess the transition readiness of young adults with NF1.
- To evaluate the impact of NF1 on young adult life factors.
- To inform the design of a future NF1-specific HCT intervention.
Main Methods:
- A survey was distributed by the Children's Tumor Foundation (CTF) to assess transition readiness and NF1's impact.
- 101 participants aged 14-26 years with NF1 completed the survey.
- The Transition Readiness Assessment Questionnaire (TRAQ) and NF1-specific knowledge (NF1-TRAQ) were utilized.
Main Results:
- NF1 significantly impacted education, career, relationships, and family planning for most participants.
- The median TRAQ score (3.50/5.00) was lower than in healthy peers (3.93/5.00) (p < .001).
- Lower TRAQ and NF1-TRAQ scores correlated with greater negative impact of NF1 on young adult life domains.
Conclusions:
- Young adults with NF1 exhibit decreased transition readiness compared to healthy peers.
- Transition readiness is linked to the perceived impact of NF1 on various life aspects.
- Developing NF1-specific HCT interventions is necessary to enhance quality of life and standardize care.
Abstract:
Neurofibromatosis type 1 (NF1) conveys significant disease morbidity and lower quality of life compared to the general population. Research has shown that decreased positive health outcomes are directly correlated with inadequate development of health-related self-management skills among similar patient populations, and among these populations a healthcare transition (HCT) intervention improves provision of care and health outcomes. Thus, HCT intervention may improve care and outcomes in NF1. To design a future informed NF1 HCT intervention, baseline transition readiness must be assessed. A survey distributed by Children's Tumor Foundation (CTF) was developed to assess transition readiness and the impact of NF1 on factors of young adult life. A total of 101 participants aged 14-26 years living in the United States completed the survey with a median [IQR] age of 18 [16, 21]. The majority of participants reported that NF1 had significant or some impact on all factors of young adult life including education, career, relationships, and family planning. The median Transition Readiness Assessment Questionnaire (TRAQ) score in this study (3.50/5.00) was significantly lower than the previously published score of healthy peers (3.93/5.00) (p< .001). Higher TRAQ scores correlated with higher NF1-specific transition knowledge and skills (NF1-TRAQ) (r = 0.632). Participants self-report adequate knowledge of NF1 and comfort in talking to medical providers. They report discomfort with appointment keeping, insurance related tasks, addressing NF1 emergencies, and discussing NF1 with non-medical providers and peers. Further, TRAQ and NF1-TRAQ scores were lower in individuals who reported that their diagnosis of NF1 had some or significant impact on education, career, and relationships. Findings demonstrate that among individuals with NF1 in this study, decreased transition readiness is associated with a negative impact on young adult life. Data from this study supports the need to develop NF1-specific HCT intervention tools, with an effort to improve quality of life and standardize NF1 care.
