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Show SCHOOL OF MEDICINE AND HEALTH SCIENCES UNDERGRADUATE RESEARCH ABSTRACT; Austin Stevens David Stevenson QUALITY OF LIFE IN CHILDREN AND ADOLESCENTS WITH NEUROFIBROMATOSIS TYPE 1 AND SKELETAL ABNORMALITIES Austin Stevens (David Stevenson) Department of Pediatrics University of Utah Background: Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder. It affects 1/3500 individuals worldwide (Friedman, 2002). It is classically characterized as a neurocutaneous disorder, but osseous and spinal abnormalities are clearly associated with NF1. These complications are not well understood and rarely emphasized, even though as high as 3 8 % have been reported to have osseous manifestations (Crawford and Schorry, 1999). In particular, the medical management of scoliosis and tibial dysplasia in NF1 are problematic with no consensus on preferred treatment strategies. More information on the natural history and health-related quality of life (HRQL) is needed before effective therapies can be designed as assessment of treatment efficacy is complex and outcome measures difficult to define. Specific outcome measures are needed for the development of clinical trials. Methods: Our objective was to determine if specific quality of life instruments can be utilized in the population for the skeletal manifestations. A battery of H R Q L instruments were used given that it was not known which instrument would be most appropriate for the various manifestations of NF1 (Table 1). Categorical data of health status was summarized as frequency distributions and differences among groups were assessed using chi-square tests of proportions. The PODCI questionnaire data was summarized as mean, standard deviation, 9 5 % confidence bounds. T-tests and analysis of variance techniques will be used to test differences in means between groups. TABLE I. Description of HRQL qaestjounaira utilized HROOI Inslnim.nl PODCI 1 Pediatric Outcomes Data Collection Instrument) PedsQL (Pediatric Qualm of Life Inventory) ASK (Activities Scale for Kids) < .ill. iu F A Q (Functional Assessment Quesiounaire) Dncrajrtkui • I0O- questions • Cociprebensive. onbopedje-spealic • 2? questions (less burdensome) • Modular approach, genetic & disease-specific nsrytnlr^ used • JOquesoons • Ortbopcdtc-sricctfic. designed for most donwns ui muscnJoskeiclal dividers 4 0 l|Ue»IK»I> FtuKtiou-specific. assesses most complete range of wllrmn aWIMr i Results: A total of 186 patients were enrolled in this study (Table 2), and the questionnaires were administered and recorded. There was a significant decrease in the quality of life (QOL) in the T D group versus controls in all of the domains of the PODCI except upper extremities and happiness. A significant decrease in Q O L was found in the Scoliosis group in Pain & Comfort, along with a decrease in Sports Physical Functioning and Global Functioning (not statistically significant) (Table 3). Table 2. Number of individuals in each subject category that completed the P O D CI Category Bracing, Surgery, Scoliosis > 20J_ Tibial Dysplasia N F 1 , N o Scoliosis > 20° or IifeM Dysplasia N u m b e r of Subjects 11 37 138 Summary: Our preliminary data suggest that the PODCI is able to distinguish quality of life measures in individuals with scoliosis and tibial dysplasia. The PODCI would be a reasonable outcome measure to use in clinical trials for the skeletal defects of NF1. 1 VIII 1 S < ompartvtn of POIM 1 Score* In lac M i IKunalns la >r 1 ( a w «Ha llblal Ih.pU.la. Vollo. Dnnaln UaaaiBaaalq v.i. I,~.l„ A ruu. >M,.lm V " s It' 1 1 " P..uA<..ml.* Hqajtaw Crlofel ruaCtMlanJ «.r<m|i V.'liou. TD i ,.,»..i TO < gatral v . J U - TD Control UU TO c gam! TIIUMII TD < M M! V-tl..M. TO iv HiKtlnit Sun M f M N.«rr K it'll< M0OT0JJ H.n»75 •M <N<:»I M4U4II •7.J4ISM -• 1.M1I.I M.0MO4I UTJTIIS •«<«*»« M.MMS1 u nw ICOWOT (| i.;in> J»T>, 4 M l ( octroi* < i*lflil.»ir I m n . M.OMill »• m m MMI'41 »0:7»M!I <**«».: i.' t (MINN 32I1M4* B.70UM <kjss,n«; TI7MUI |7 |7W4 -», ItMM T7 70M04 »><-J-vl< • > n » i: »» WTMJ .,;;,!.« |«] „'»..*• MMO>«" M I;IO" H J MM MJOfTI] »r.«Mlft' •,WI>:I>< •». M M ti tarn »; »iuii: •,<;.«.M IS-I u"tt ....1 Ml '' OtUI 0IM< (Oil |