Marie Enderle, “Health-Related Quality of Life in Young Children with Neurofibromatosis Type 1”
Mentor: Bonnie Klein-Tasman, Psychology
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting 1 in 3,000 births and children with NF1 are at increased risk of cognitive, attention and social difficulties. Children with NF1 also tend to show difficulties related to Health-Related Quality of Life (HRQOL), which refers to the happiness, fulfillment, and health of a child’s life. There is little research in young children with NF1 characterizing HRQOL or about relations between HRQOL and other aspects of functioning including executive and adaptive abilities. In our past research, we have identified a significant relation between adaptive and executive functioning in young children with NF1. The purpose of the current study is to characterize HRQOL in young children with NF1, as well as examine whether executive and adaptive functioning are related to HRQOL. Participants are twenty children with NF1 (ages 4-6) and their parent. Parents completed the Pediatric Quality of Life Inventory (Peds QL), the Adaptive Behavior Assessment System 3rd Edition (ABAS-3), and the Behavior Rating Inventory Executive Functioning Preschool or 2nd edition, depending on age. In the current investigation, we found that overall young children with NF1 did not significantly differ from healthy age-matched peers in HRQOL (t(19) = -0.267, p<0.792). However, we did identify a significant correlation between executive functioning and psychosocial (rho(18) = -0.609, p= 0.004) and total (rho(18) = -0.449, p= 0.047) HRQOL. We also found a medium-sized (though nonsignificant) relation between adaptive functioning and physical HRQOL (rho(16) = 0.413, p= 0.089). In future research, an important next step includes a longitudinal analysis of how quality of life, and relations to adaptive and executive functioning, change throughout childhood. As HRQOL has been linked in research to mental and physical health, further research into HRQOL can help identify specific areas of a child’s life to target for intervention strategies.
Hello! My name is Marie Enderle, and this is my presentation. I have been working in my research lab for 4 years, and I have focused past research on social functioning, mainly adaptive functioning. This specific research project has been in the works for about a year and a half, as I am also writing a senior thesis on HRQOL in young children with NF1. I have thoroughly enjoyed doing this research, and I am excited to continue doing further research into social functioning next year in my graduate program at UWM! Please comment any questions or comments about my presentation, or email me at enderlem@uwm.edu. Thank you for watching!
Hello Marie,
I thought you did a lovely job with this poster. The graphs really help with making the information much more digestible.
I would be interested to see how much the bias of the parents, when filling out the three questionnaires, affects the results of the data. Are there controls in place for this? Is there a lot of variance in how their opinions may affect the results of the questionnaires?
Great job with this presentation!
Hello! Thank you for your question.
This is something that is a limitation in our research! We do not have controls for this age group for parental bias. If the sample was older, we would have been able to use self reports as well, which allow us to control for parental bias. With our young sample, however, the PedsQL only has a self report available for children aged 5-6. There is no available self report for children aged 4. We hope to include self-reports in further research that involve older children.
To answer your second question, their opinions may bias their answers on the questionnaires. The measures themselves are worded to be as neutral as possible, and it is also important to note that child self-reports also show some bias as well (as some children have trouble with self-reporting of issues). These are definitely important things to keep in mind throughout my research!
Thank you for a clearly-laid out and interesting presentation. A detail I didn’t quite catch from the presentation – did you establish the baseline yourself, or were you comparing your sample of 20 individuals to published data? If the latter, do you think it would be more informative to have a comparative baseline drawn from the same population you are studying? Best of luck continuing your work during your graduate education.
Hello! Thank you for your questions.
The PedsQL manual does not post normative data, so we were comparing to a healthy sample from Varni et al., 2003 and an age-separated sample of children with NF1 from the same study. And yes, I agree that it would be better to have a control group from our lab! That is a limitation of our study, that we do not have a control group available. We are currently working on establishing a typically developing control group of children with NF1 to combat this limitation in future research.