1. Clinical Presentations of Adolescents with Neurofibromatosis- 1 Experiencing Recurrent Pain Jessica M. Joseph 1, Kathi M. Fine 1, Kathryn S. Holman 1, Molly M. Garwood 2 1 University of Wisconsin-Milwaukee, and 2 Medical College of Wisconsin OBJECTIVESRESULTS CONCLUSIONS FUTURE DIRECTIONS CONTACT INFORMATION Corresponding Author: Jessica M. Joseph, B.A. University of Wisconsin-Milwaukee 2441 E. Hartford Ave. Milwaukee, WI 53211 Email address: josephjm@uwm.edujosephjm@uwm.edu Neurofibromatosis (NF-1) is the most common single-gene autosomal dominant disorder (North et al., 1994) affecting approximately 1 in 3000 individuals of all races and ethnicities.Neurofibromatosis (NF-1) is the most common single-gene autosomal dominant disorder (North et al., 1994) affecting approximately 1 in 3000 individuals of all races and ethnicities. Research has identified that adolescents with NF-1 are at increased risk of psychological problems and cognitive dysfunction (e.g., Counterman, et al. 1995).Research has identified that adolescents with NF-1 are at increased risk of psychological problems and cognitive dysfunction (e.g., Counterman, et al. 1995). Few studies have examined pain in individuals with NF-1. Patients with NF-1 have a higher frequency of headaches than that of the general population (DiMario & Langshur, 2000). The presence of abdominal migraine (Heuschkel et al., 2001) and neuropathy (Ferner, et al., 2004) have also been documented in case studies.Few studies have examined pain in individuals with NF-1. Patients with NF-1 have a higher frequency of headaches than that of the general population (DiMario & Langshur, 2000). The presence of abdominal migraine (Heuschkel et al., 2001) and neuropathy (Ferner, et al., 2004) have also been documented in case studies. Patients with recurrent headaches report detrimental effects on their functioning and health related quality of life (HRQOL; Powers et al., 2003) including reports of greater pain and poorer overall functioning/quality of life than patients with Juvenile Idiopathic Arthritis or sickle cell disease (Peterson & Palermo, 2004).Patients with recurrent headaches report detrimental effects on their functioning and health related quality of life (HRQOL; Powers et al., 2003) including reports of greater pain and poorer overall functioning/quality of life than patients with Juvenile Idiopathic Arthritis or sickle cell disease (Peterson & Palermo, 2004). The goal of this study is to examine the impact of pain on individual functioning in adolescents with NF-1.The goal of this study is to examine the impact of pain on individual functioning in adolescents with NF-1. METHODOLOGY Three participants were recruited through a NF-1 clinic at a large Midwestern children’s hospital. Selection criteria included being between the ages of 12 and 18 years and living within 100 miles of the hospital, but did not require the experience of recurrent pain. Families were interviewed in their homes.Three participants were recruited through a NF-1 clinic at a large Midwestern children’s hospital. Selection criteria included being between the ages of 12 and 18 years and living within 100 miles of the hospital, but did not require the experience of recurrent pain. Families were interviewed in their homes. Pain intensity was rated on a 0-10 point Visual Analog Scale for 14 days (prior to the home visit) in the morning, mid-day, and before retiring at night. Participants used a similar daily rating scale to rate their degree of feeling upset (mad/sad/anxious/ worried/scared).Pain intensity was rated on a 0-10 point Visual Analog Scale for 14 days (prior to the home visit) in the morning, mid-day, and before retiring at night. Participants used a similar daily rating scale to rate their degree of feeling upset (mad/sad/anxious/ worried/scared). Pain-related functional limitations were assessed with the Functional Disability Inventory (FDI; Claar & Walker, 2006), a 15 item scale with total scores ranging from 0-60.Pain-related functional limitations were assessed with the Functional Disability Inventory (FDI; Claar & Walker, 2006), a 15 item scale with total scores ranging from 0-60. Quality of life (QoL) was assessed with the Pediatric Quality of Life Inventory v 4.0 (PedsQL; Varni et al., 2001).Quality of life (QoL) was assessed with the Pediatric Quality of Life Inventory v 4.0 (PedsQL; Varni et al., 2001). The data collected were then organized into three separate case summaries.The data collected were then organized into three separate case summaries. Poster presented at the 2008 National Child Health Psychology Conference, Miami Beach, FL Our findings suggest that these three adolescents with NF-1 are experiencing episodic pain and co-occurring functional impairment.Our findings suggest that these three adolescents with NF-1 are experiencing episodic pain and co-occurring functional impairment. Although reported levels of pain were relatively low, there were times when pain was clinically significant and this was often accompanied by higher feelings of emotional upset.Although reported levels of pain were relatively low, there were times when pain was clinically significant and this was often accompanied by higher feelings of emotional upset. In addition to experiencing episodic pain and emotional upset, all three adolescents reported experiencing quality of life levels below the normal range specifically in the areas of emotional and social functioning.In addition to experiencing episodic pain and emotional upset, all three adolescents reported experiencing quality of life levels below the normal range specifically in the areas of emotional and social functioning. These findings indicate that further research should address the impact of pain on adolescents with NF-1 and how this pain may further impact the emotional and social functioning deficits typical in adolescents with this genetic disorder.These findings indicate that further research should address the impact of pain on adolescents with NF-1 and how this pain may further impact the emotional and social functioning deficits typical in adolescents with this genetic disorder. This study is part of a larger ongoing project and in the future, when greater sample sizes have been recruited, the generalizability of these findings in the larger NF-1 adolescent sample should be examined.This study is part of a larger ongoing project and in the future, when greater sample sizes have been recruited, the generalizability of these findings in the larger NF-1 adolescent sample should be examined. Within subject correlations were computed by manipulating the data so that each participant had unique variables for pain intensity and feelings of upset, which were then correlated with each other.Within subject correlations were computed by manipulating the data so that each participant had unique variables for pain intensity and feelings of upset, which were then correlated with each other. Within-subject correlations were used for each individual to examine the association between their ratings of pain with their reported level of being upset. For Case 1 and Case 3 there was a significant correlation between their level of feeling upset and their reported pain.Within-subject correlations were used for each individual to examine the association between their ratings of pain with their reported level of being upset. For Case 1 and Case 3 there was a significant correlation between their level of feeling upset and their reported pain. Case #2 reported no feelings of upset throughout his two weeks of reporting.Case #2 reported no feelings of upset throughout his two weeks of reporting. All three adolescents reported PedsQL total scores falling below the normal range (≥83) with higher scores indicating higher QoL (Varni, Seid, & Kurtin, 2001).All three adolescents reported PedsQL total scores falling below the normal range (≥83) with higher scores indicating higher QoL (Varni, Seid, & Kurtin, 2001). In contrast, FDI scores associated with pain-related functional limitations were all within the non-clinical range.In contrast, FDI scores associated with pain-related functional limitations were all within the non-clinical range. Case 1Case 2Case 3 GenderMale Female Age16 years old18 years old16 years old RaceAfrican American Caucasian Pain Intensity (0-10 scale) Best Worst Usual 0 8 2.02 0 4 0.21 0 5 0.70 Feelings of Upset (0-10 scale) Best Worst Usual 0 5 1.24 0 0.00 0 5 1.54 PedsQL (0-100 scale) Physical Emotional Social School Psychosocial Total 81.25 70.00 85.00 90.00 81.67 81.52 78.13 75.00 65.00 75.00 85.00 76.09 90.63 50.00 65.00 80.00 65.00 73.91 FDI (0-60)952 RESULTS (cont) Within-Subject Correlations between Pain Intensity and Feelings of Upset Pearson’s rp Case 10.55<0.01 Case 2-- Case 30.70<0.01