Health-Related Quality of Life in Adolescents with Neurofibromatosis-1: A Pattern of Similarity with Other Serious Chronic IllnessesJessica M. Joseph1, Rebecca E. Shefsky1, W. Hobart Davies2, 3, Bonita P. Klein-Tasman1, & Molly M. Garwood3

1University of Wisconsin-Milwaukee, and 2Children’s Hospital of Wisconsin, 3Medical College of Wisconsin

OBJECTIVES RESULTS

CONCLUSIONS

CONTACT INFORMATIONCorresponding Author: Jessica M. Joseph, B.A.

University of Wisconsin-Milwaukee2441 E. Hartford Ave. Milwaukee, WI 53211

Email address: josephjm@uwm.edu

• Neurofibromatosis (NF-1) is the most common single-gene Neurofibromatosis (NF-1) is the most common single-gene autosomal dominant disorder (North et al., 1994) affecting autosomal dominant disorder (North et al., 1994) affecting approximately 1 in 3000 individuals of all races and approximately 1 in 3000 individuals of all races and ethnicities. ethnicities.

• NF-1 is the result of a random or inherited genetic mutation NF-1 is the result of a random or inherited genetic mutation with approximately 50% of individuals having a parent with with approximately 50% of individuals having a parent with NF-1. NF-1.

• Previous research has shown that adolescents with NF-1 Previous research has shown that adolescents with NF-1 report lower rates of health-related quality of life (HRQOL) report lower rates of health-related quality of life (HRQOL) than healthy children (Graf, et al., 2006; Wolkenstein, et a., than healthy children (Graf, et al., 2006; Wolkenstein, et a., 2006). 2006).

• Preliminary research has also examined the impact of Preliminary research has also examined the impact of having a parent with NF-1 on HRQOL (Reiter-Purtill et al., having a parent with NF-1 on HRQOL (Reiter-Purtill et al., 2008) which will be further examined in this study. 2008) which will be further examined in this study.

• The goal of the current study is to compare HRQOL in The goal of the current study is to compare HRQOL in adolescents with NF-1 with both healthy children and adolescents with NF-1 with both healthy children and children with other chronic medical conditions using a children with other chronic medical conditions using a measure well validated for a variety of pediatric populations. measure well validated for a variety of pediatric populations.

METHODOLOGY

• Participants were recruited through a NF-1 clinic at a large Participants were recruited through a NF-1 clinic at a large Midwestern children’s hospital. Participants had a diagnosis Midwestern children’s hospital. Participants had a diagnosis of NF-1, were between the ages of 12 and 18 years, and lived of NF-1, were between the ages of 12 and 18 years, and lived within 120 miles of the hospital. Families were interviewed in within 120 miles of the hospital. Families were interviewed in their homes. their homes.

• The final sample size was twenty-five adolescents ages 12 to The final sample size was twenty-five adolescents ages 12 to 18 years (M = 13.96, SD = 2.03), with 56 percent of the 18 years (M = 13.96, SD = 2.03), with 56 percent of the sample being female. sample being female.

• Twenty-four mothers and 14 fathers participated in this study Twenty-four mothers and 14 fathers participated in this study but demographic information was provided for all 50 parents. but demographic information was provided for all 50 parents.

• Twelve of the adolescents (48%) had a parent with NF-1.Twelve of the adolescents (48%) had a parent with NF-1.

• HRQOL was assessed with the Pediatric Quality of Life HRQOL was assessed with the Pediatric Quality of Life Inventory v 4.0 (PedsQL; Varni et al., 2001). Higher HRQOL Inventory v 4.0 (PedsQL; Varni et al., 2001). Higher HRQOL scores indicate better functioning. scores indicate better functioning.

• NF-1 HRQOL scores were compared with healthy control and NF-1 HRQOL scores were compared with healthy control and chronic illness composites that were established by Varni chronic illness composites that were established by Varni (2001) from a sample of 963 children and 1677 parents who (2001) from a sample of 963 children and 1677 parents who completed the PedsQL during their visits to hospital specialty completed the PedsQL during their visits to hospital specialty clinics. clinics.

Poster presented at the 2009 Midwest Conference on Pediatric Psychology, Kansas City, MissouriPoster presented at the 2009 Midwest Conference on Pediatric Psychology, Kansas City, MissouriThis project is supported by a grant awarded to the last author from the Children’s Research Institute, Children’s Hospital of Wisconsin.This project is supported by a grant awarded to the last author from the Children’s Research Institute, Children’s Hospital of Wisconsin.

• The use of the PedsQL allowed for the comparison of HRQOL in The use of the PedsQL allowed for the comparison of HRQOL in youth with NF-1 to other chronic illness populations and established youth with NF-1 to other chronic illness populations and established control groups (Varni et al., 2001). control groups (Varni et al., 2001).

• Child-, mother-, and father- HRQOL total score means were all Child-, mother-, and father- HRQOL total score means were all closer to the scores of the chronic illness composite than the healthy closer to the scores of the chronic illness composite than the healthy controls although only mother-reported values were statistically controls although only mother-reported values were statistically different from healthy controls.different from healthy controls.

• There were no significant differences between reported HRQOL There were no significant differences between reported HRQOL and the chronic illness composites suggesting that adolescents with and the chronic illness composites suggesting that adolescents with NF-1 and their parents are reporting rates of impaired quality of life NF-1 and their parents are reporting rates of impaired quality of life similar to other chronic illness populations (Varni et al., 1999). similar to other chronic illness populations (Varni et al., 1999).

• Adolescents’ self-report of their overall, physical and psychosocial Adolescents’ self-report of their overall, physical and psychosocial functioning did not vary by parental NF-1 status. There was a large functioning did not vary by parental NF-1 status. There was a large effect size found for youths’ reports of their ability to do physical effect size found for youths’ reports of their ability to do physical activities, though, indicating that with a larger sample size a activities, though, indicating that with a larger sample size a significant difference would be anticipated. significant difference would be anticipated.

• In summary, adolescents with NF-1 were described as having lower In summary, adolescents with NF-1 were described as having lower quality of life compared with adolescents without chronic illnesses at quality of life compared with adolescents without chronic illnesses at rates that were similar with other chronic illness populations. rates that were similar with other chronic illness populations.

• Future work with multiple measures and larger samples would allow Future work with multiple measures and larger samples would allow differences to be examined within the domains of quality of life and differences to be examined within the domains of quality of life and obtain a better description of the impact of having NF-1 on social, obtain a better description of the impact of having NF-1 on social, emotional, school and physical functioning. emotional, school and physical functioning.

• Adolescent reports of HRQOL (Adolescent reports of HRQOL (MM=77.30) were not significantly =77.30) were not significantly different than healthy controls (different than healthy controls (MM=83.00) or the chronic illness =83.00) or the chronic illness composite (composite (M=M=77.19). 77.19).

• There were also no significant differences based on fathers’ reports of There were also no significant differences based on fathers’ reports of total HRQOL (total HRQOL (MM=75.23) with either the chronic illness composite =75.23) with either the chronic illness composite ((MM= 74.11) or the healthy controls (= 74.11) or the healthy controls (MM = 87.61). = 87.61).

• Mother’s reports of total HRQOL (Mother’s reports of total HRQOL (MM=69.04) did differ significantly =69.04) did differ significantly from that of healthy controls (from that of healthy controls (MM=87.61) and was numerically less than =87.61) and was numerically less than but did not differ significantly from the chronic illness composite (but did not differ significantly from the chronic illness composite (MM = = 74.22). 74.22).

• No significant differences were found for youth-report HRQOL No significant differences were found for youth-report HRQOL ratings between adolescents with a parent with NF-1 and adolescents ratings between adolescents with a parent with NF-1 and adolescents without a parent with NF-1. without a parent with NF-1.

RESULTS (cont)

• HRQOL ratings from this sample were compared to previously established composites HRQOL ratings from this sample were compared to previously established composites using one-sample t-tests (see Table 1). using one-sample t-tests (see Table 1).

• Differences in HRQOL for children with and without a parent with NF-1 were also Differences in HRQOL for children with and without a parent with NF-1 were also examined with independent samples t-tests (see Table 2).examined with independent samples t-tests (see Table 2).

Table 1 : One-Sample T-Tests Comparing HRQOL Total Scores of Adolescents with NF-1, Healthy Controls,

and Children with Chronic Illnesses

df t p Cohen’s d

Child Report

NF-1 and Healthy Controls 24 -.1.78 .09 .37

NF-1 and Chronic Illness Composite 24 .03 .97 .01

Mother Report

NF-1 and Healthy Controls 23 -4.64 <.01** 1.13

NF-1 and Chronic Illness Composite 23 -1.29 .21 .27

Father Report

NF-1 and Healthy Controls 13 -2.07 .06 .69

NF-1 and Chronic Illness Composite 13 .17 .89 .05

Table 2: Independent Samples T-tests Examining HRQOL Differences in Adolescents with a Parent with

NF-1 and Adolescents without a Parent with NF-1

M SD df t p Cohen’s d

Total Score 23 .94 .36 .37

Parents without NF-1 80.18 15.33

Parents with NF-1 74.17 16.85

Physical Summary Score 23 1.77 .09 .70

Parents without NF-1 87.50 11.41

Parents with NF-1 75.36 21.70

Psychosocial Summary Score 23 .37 .72 .15

Parents without NF-1 76.28 20.74

Parents with NF-1 73.53 16.30

*T-test is significant at the 0.05 level (2-tailed), **T-test is significant at the 0.01 level (2-tailed)*T-test is significant at the 0.05 level (2-tailed), **T-test is significant at the 0.01 level (2-tailed)

*T-test is significant at the 0.05 level (2-tailed), **T-test is significant at the 0.01 level (2-tailed)*T-test is significant at the 0.05 level (2-tailed), **T-test is significant at the 0.01 level (2-tailed)