Knowledge and Self‐Esteem of Individuals with Neurofibromatosis Type 1 (NF1)

Abstract

Neurofibromatosis Type 1 (NF1) is a progressive genetic disorder characterized by physical findings such as café-au-lait macules, Lisch nodules, and neurofibromas in addition to other medical complications. Learning and social problems are more prevalent among individuals affected with NF1. It has been reported that people with NF1 have lower self-esteem (SE) when compared to the general population. Additionally, a study published over 20 years ago found that overall knowledge of NF1 was lacking in individuals affected with the condition. The goals of our study were to evaluate NF1 knowledge in adolescents and adults with the condition, as well as to determine if there is a link between patient knowledge and SE. Furthermore, we explored the impact of other factors, such as attendance at a NF1 support group and having a family history of NF1, on knowledge and SE. A survey comprised of knowledge-based questions and the Rosenberg Self-Esteem Scale was distributed to individuals with NF1 through the Texas NF Foundation. Overall, the 49 respondents (13 to 73 years of age) had a mean knowledge score of 77.9 % correct answers. Consistent with previous studies, the SE of our study population was lower when compared to general population norms. Although no correlation between knowledge and SE was observed, SE scores were on average higher if a person reported the following: having friends with NF1 (p = 0.009); attending a NF1 support group (p = 0.006); receiving care at a NF clinic (p = 0.049); or having received genetic counseling (p = 0.008). Further research is needed to better understand the relationship between these factors and SE in the NF1 population.

Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls

“…To the best of our knowledge, no studies of adults with NF1 have addressed social support as a main variable. In a recent survey of 73 persons with NF1 aged 13 to 73 years, Rosnau et al (2017) found higher self-esteem among persons who reported they had friends with NF1 and among those who took part in NF1 support groups.…”

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors

“…The same group employed a related intervention of mind–body therapy provided by videoconferencing (Vranceanu et al., 2016), which has similar benefits in terms of improving resiliency (Zale, Pierre‐Louis, Macklin, Riklin, & Vranceanu, 2018). Rosnau et al found that adolescents with NF1 who attended a support group comprised of other similarly affected individuals were associated with higher reported self‐esteem (Rosnau et al., 2017). Studies of an Internet support group for parents of children with NF1 showed this method of support as a feasible and possibly effective option for parental support, and additional studies evaluating qualitative analysis continue (Martin et al., 2016, 2018).…”

Factors associated with parental knowledge of neurofibromatosis type 1 (NF1): Parental affected status and genetic counseling

“…Are clubbed feet associated with NF1? (Benjamin et al, 1993;Rosnau et al, 2017). To our knowledge, this study is the first to identify an association between parental NF1 status and NF1-related knowledge and serves as an important addition to the existing body of research.…”

“…Neurofibromatosis type 1 knowledge items were adapted from questions used in the Benjamin et al (1993), Rosnau et al (2017), and Erblich et al (2005) studies. Additional questions were formulated and reviewed by genetic counselors who specialize in NF1 diagnosis and management.…”

“…counseling is associated with higher levels of NF1 knowledge among affected and unaffected individuals (Benjamin et al, 1993;Rosnau et al, 2017). Kolesnik et al (2017) found that unless parents are familiar with the condition or express concern, most infants with NF1 do not receive regular developmental examinations.…”