To our knowledge, this is the first study to explore social–emotional functioning among a sample of youth with NF1 and PNs. The pattern of significant correlations provides support for our primary hypothesis. That is, cognitive scores, disease variables, and environmental stressors all related to social–emotional scores. Specifically, each cognitive score was associated with one or more BASC-2 parent scores, providing further support for a previously reported (Huijbregts & de Sonneville, 2010
) link between cognitive and social–emotional functioning in children with NF1. Notably, the Leadership and Functional Communication subscale scores each were associated with at least four of the five cognitive variables, indicating that these aspects of adaptive functioning are particularly at risk among children with NF1 and cognitive deficits. Consistent with this finding, Noll et al. (2007)
found that children with NF1 had fewer reciprocated friendships and were less well liked than healthy peers, and that unpopularity was associated with more severe neurological symptoms. Research on nonverbal learning disabilities (Casey, Rourke, & Picard, 1991
) suggest that the visual-perceptual impairments evidenced by the children in our study may relate to their weakness in social skills. In sum, neurocognitive deficits in children with NF1 may underlie their poor social skills, exemplified in our study by not taking leadership roles in peer groups and difficulty expressing themselves to others.
Cognitively, our sample performed similarly to other studies of children with NF1 in general. For example, a relative deficit in visual-spatial perception on the JLO test also has been reported by Krab et al. (2005) and Clements-Stephens, Rimrodt, Gaur, & Cutting (2008)
. However, in contrast to past studies of NF1 noting a relative impairment in working memory (Huijbregts, Swaab, & de Sonneville, 2010
; Payne et al., 2011
), our sample did not evidence such a deficit. Prior reports in the literature on the frequency of learning problems in NF1 and the notable percentage (25%) of teacher-reported learning problems in our study implicate the need for studies assessing cognitive interventions in this population. The fact that several cognitive test scores predicted social–emotional scores suggests that some of the cognitive deficits experienced by these children may negatively influence their emotional wellbeing, although the cross-sectional nature of our study limits causal implications. Future research should investigate whether interventions targeting cognitive deficits may ameliorate some of the social–emotional impairments in children with NF1. Early results on computerized training techniques such as Cogmed (McNab et al., 2009
) are promising in other illness groups. However, more data are needed and the applicability of these techniques to NF1 has yet to be evaluated. Moreover, the field could benefit from exploration of the underlying biological mechanisms linking cognitive and social–emotional functioning in youth with NF1, as well as comparisons of children with and without learning disabilities.
Nurse-practitioner rated disease severity related to only one aspect of social–emotional functioning: parent-reported somatization symptoms. It is worth noting that the items on the Somatization subscale go beyond simply experiencing physical symptoms. Many items refer to the child complaining about and being concerned about their symptoms. Parental response to a child's physical complaints can influence the child's distress (Blount et al., 1997
). Thus, the way that parents of children with NF1 react to their child's pain and complaints may mediate the relationship between physical symptoms and social–emotional outcomes. Interventions targeting chronic pain and other physical symptoms may help patients cope with their disease more effectively.
Higher tumor burden percentages were related to more parent-reported attention problems in our sample. While this specific relationship has not been reported previously, some evidence has in fact indicated the presence of a shared neural pathway that causes both PNs and cognitive problems (Weiss, Bollag, & Shannon, 1999
; Wolters et al., 2011
). However, our finding should be considered with appreciation of the complexity of PNs. In addition to the volume of these tumors, their location is of central importance; a small spinal or orbital tumor can cause more severe problems than an extensive PN in a different location. Results of these exploratory analyses are presented tentatively.
Stressful school events were associated with multiple aspects of social–emotional functioning, including depression, anxiety, aggression, and attention problems, providing the first account of the relationship between these variables within the NF1 population. Social problems (e.g., being teased by peers) and behavior difficulties in school were common in this study. It is well-established that children with learning disabilities (Wiener & Schneider, 2002
) and ADHD (Murray-Close et al., 2010
) are prone to peer rejection and behavior problems. These diagnoses may serve to elicit the stressful school events experienced in our sample. Conversely, repeated occurrence of stressful school events may lead to greater internalizing and/or externalizing problems in the child. Healthcare professionals should be pro-active by referring children with NF1 for psychological assessments to identify potential learning problems if they are struggling in school. In addition, studies are needed to assess the efficacy of social skills training with these children.
In line with previous reports (e.g., Barton & North, 2004
), mean scores on the Parent and Teacher BASC-2 scales were all within normal limits, which initially suggests healthy functioning. Interestingly, mean scores within normal limits were also reported in the BASC-2 manual for the normative sample of children with ADHD as well as in studies of social–emotional functioning in children with cancer and HIV that used the BASC-2 (Malee et al., 2011; Wolfe-Christensen et al., 2009
). However, closer inspection of our data reveals that the percentages of children in our sample falling in the At-Risk and Clinically Significant ranges are substantial, ranging from 11% to 32% on the Composite scales. Thus, while our overall sample of youth with NF1 and PNs may be functioning well, a notable subgroup is dealing with a variety of social–emotional problems. Malee et al. (2011) utilized the parent BASC-II to compare behavior problems in HIV perinatally exposed children and HIV-positive children. Results were similar to our study, with mean scores within normal limits but substantial proportions of children in both groups with scores in the at-risk or clinically significant ranges. In their conclusions, the authors emphasize the prevalence of mental health problems in their samples, thus underscoring the importance of looking beyond mean scores that may mask the problems that exist in subgroups of children. Percentages of children scoring in clinical ranges were not reported in the BASC-2 manual or in the study of children with cancer noted above. Inclusion of such information would be helpful in future studies on social–emotional functioning in pediatric illness groups. Furthermore, the need to focus subsequent research on the subgroups scoring in the at-risk and clinically significant ranges as well as on what variables contribute to their significant scores is implicated.
Parents and teachers consistently indicated that somatization, attention problems, depression, and withdrawal are among the most significant problems in our sample. Importantly, internalizing problems (i.e., scores in the AR/CS range) were more common than externalizing problems. Similarly, in Barton & North's (2004)
study, the mean CBCL Internalizing Problems score was slightly higher (57.1) than the mean Externalizing Problems score (53.0). Comparisons between our study and Barton and North's must be tempered since different measures were used (BASC-2 vs. CBCL), and all children in our sample had PNs, which may be associated with a different psychological profile (Wolters et al., 2011
). The presence or absence of PNs in Barton and North's sample was not reported.
Limitations and Future Directions
While the descriptive, cross-sectional nature of this study and our lack of a comparison group limit their implications, our results nonetheless can be used for planning future studies. Descriptive research is important in new areas of scientific inquiry, and is particularly useful for gathering information and generating further hypotheses (Marincola, 2007
). Our results should be interpreted in this context. The next steps will be to explore social–emotional functioning and related variables using a comparison group, such as unaffected siblings. Comparisons of children with NF1 with and without PNs will be important as well, since PNs are an important aspect of disease severity. The generalizability of our results to children without PNs is limited.
Results of the multiple regression analyses suggest that combinations of cognitive functioning, disease severity, and environmental stressors may influence social–emotional outcomes in children with NF1, although a longitudinal design would lend support to a possible causal relationship. The conceptual framework underlying our hypotheses was guided by a systems and social-ecological model, which has been applied to other pediatric illness groups. This is the first time such a model has been adapted and applied to NF1. Working from this model can help develop a more definitive and elaborate framework that can be tested for its applicability to NF1. However, given our relatively small sample size and the fact that some of the cognitive measures did not span the entire age range of the sample, findings must be interpreted with caution.
Inclusion of additional variables from the systems and social-ecological model, such as coping and family functioning, would be useful in future studies. Also, systems models typically include longitudinal assessments to capture developmental changes over time. Thus, research incorporating multiple timepoints will be important as well.