Health-Related Quality of Life in Young Children with Neurofibromatosis Type 1

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) = -.267, p\u3c.792). However, we did identify a significant correlation between executive functioning and psychosocial (rho(18) = -.609, p=.004) and total (rho(18) = -.449, p=.047) HRQOL. We also found a medium-sized (though nonsignificant) relation between adaptive functioning and physical HRQOL (rho(16) = .413, p=.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