The Role of Appearance in Adolescents’ Experiences of Neurofibromatosis Type 1: A Survey of Young People and Parents

Neurofibromatosis type 1 (NF1) is a genetic condition which can result in varying degrees of visible difference (disfigurement). Adolescence is a time when appearance concerns become more salient for many young people and is acknowledged as a particularly challenging time for individuals with NF1. There is currently little research into the psychosocial impact of the appearance changes associated with NF1 during this stage of life. In order to address this, surveys of young people with NF1 aged 14–24 years (n = 73), and parents of young people with NF1 (n = 55) were developed following interview studies with these groups. The surveys included the Perceived Stigma Questionnaire, Social Comfort Questionnaire, Body Esteem Scale (appearance subscale) and the Subjective Happiness Scale. Young people and parents identified appearance as central to young peoples’ experience of NF1, however no significant difference was found on measures of body esteem, happiness, stigma or social comfort between those young people who reported their NF1 was noticeable to others and those who reported it was not. Findings from the parent survey indicated that their reports of greater perceived noticeability did relate to greater perceived stigma and lower levels of social comfort. Findings highlight the importance of attending to young people’s concerns around appearance in general and managing the possibility of future appearance changes, rather than the current noticeability of NF1.


Introduction
Neurofibromatosis type 1 (NF1) is a genetic condition which occurs in 1:2500-1:3000 people (Ferner et al. 2007). Fifty percent of people with NF1 will have inherited their condition from a parent while the remainder of cases are new to families. The condition can result in varying degrees of visible difference (disfigurement) including cafe au lait spots (coffee coloured birthmarks), neurofibromas (benign tumors on the skin), skin fold freckles, plexiform neurofibromas (diffuse tumors that grow along a nerve) and scoliosis (curvature of the spine).
NF1 is unpredictable and variable both between individuals and over time, making it difficult for those diagnosed with the condition to know how it will affect them over their lifetime. In addition, people with NF1 are at increased risk of varying degrees of learning and behavioural difficulties including Attention Deficit Hyperactivity Disorder (ADHD) and Autistic Spectrum Disorders (ASD) (Barton and North 2004;Ferner et al. 2007;Lehtonen et al. 2013), and have been identified as having lowered social skills and difficulties processing social information (Barton and North 2004;Huijbregts et al. 2010;Noll et al. 2007). The myriad of challenges that can arise from managing both the uncertainty of the condition and its impact on appearance and social interactions (Ablon 1999;Ferner et al. 2007) may impact both quality of life and psychological adjustment (Graf et al. 2006;Krab et al. 2009;Noll et al. 2007;Wolkenstein et al. 2009).
Predictability around appearance changes and strong social skills have been identified within the literature as being important factors in adjusting to an appearance that is in any way different to 'the norm' (Rumsey et al. 2010;Rumsey and Harcourt 2012). An existing visible difference may become more challenging during adolescence (Griffiths et al. 2012), although this may also be a particularly difficult time to acquire a disfigurement of any sort (Ben-Tovim and Walker 1995). Therefore the unpredictable nature of NF1, and its possible impact on social skills can present particular risks to positive adaptation for young people during adolescence.
Little research has directly explored the role of appearance and NF1 during adolescence. Previous exploratory interviews with young people with NF1 ( Barke et al. 2014), and parents of young people with the condition (Barke et al. 2016), have identified that thoughts and feelings about appearance, their confidence in managing appearance-related issues and experience of social situations are central to young people's wellbeing and experiences of NF1. The role of noticeability appeared to differ between the two groups. Parents reported that visible NF1 had a significant impact on their child's life whereas young people themselves reported that how their appearance might or might not change in the future was more of a concern than was the current noticeability of the condition. In the current study we built on this qualitative work to explore the role of appearance and experience of social situations focusing on the impact of subjective noticeability from the viewpoint of young people with NF1 and parents. Specifically we aimed to explore the following:

Participants
The two surveys used in this study were developed to further explore and quantify the findings of previous exploratory interview studies (Barke et al. 2014;Barke et al. 2016), one for young people and one for parents. The inclusion criteria were (a) young people with a diagnosis of NF1 aged between 14 years (the age at which neurofibromas commonly appear) and 24 years of age (in line with the World Health Organisation's upper definition of youth) or (b) parents of young people who were aged 14-24 years and who had a diagnosis of NF1 (parents were not excluded if they had a diagnosis of NF1 themselves, but it was not an inclusion criteria). Participants were recruited internationally and had to be able to complete a questionnaire in English. In order to be as inclusive as possible, young people and parents in the same family did not all have to participate in order for either of them to take part in the current study; this was made clear in study information.

Procedures
Young people were identified through reviewing and searching clinical notes and databases at three NHS clinic sites in England. Information about the study was then sent by their consultants to young people and their parents. Letters were addressed to young people aged 16 or over, and to the parent/caregiver if the young person was aged 14 or 15. Those wishing to participate could either complete the survey that was enclosed with the study information letter or complete the survey online which was developed using Qualtrics. Details of the study were also included on web sites, Facebook pages, internet forums and newsletters of relevant support groups in the UK, USA, Canada, Australia and New Zealand. Informed consent was sought for all participants and young people aged 14 and 15 were required to provide parental consent.

Instrumentation
Findings from previous qualitative studies ( Barke et al. 2014;Barke et al. 2016) defined areas to explore and informed the formation of a series of research questions (as set out above) to guide the development of surveys. Measures were then chosen to specifically address these questions. Feedback on the content, presentation and wording of the survey was sought from individuals who had been involved in earlier interview studies and some minor adjustments to instructions were made. The survey contained the following standardised measures.

Young people's Survey
Appearance The appearance subscale of the Body Esteem Scale (Mendelson et al. 2001) measures young people's overall feelings about their appearance. The scale was developed with a sample of 1334 young people aged 12-25 (Mendelson et al. 2001) and has been widely used internationally with clinical and non-clinical populations including young people with chronic conditions and general population groups of adolescents and young adults (Forbes et al. 2012;McVey et al. 2003;Pinquart 2013). Furthermore the measure has been previously used with young people with a visible difference (Lawrence et al. 2007). The appearance subscale is a 10 item measure of overall feelings about appearance, with potential scores ranging from 0 to 4 and higher numbers indicating greater body esteem (the self evaluation of one's body or appearance). In the current study internal consistency was good (α = .90). Young people were also asked whether or not they felt their NF1 was noticeable to others (Yes/No) and completed an open ended statement 'My main concern about NF1 is.....' in order to investigate whether appearance was identified as an issue for them.

Social Experience The Perceived Stigmatization
Questionnaire (PSQ; Lawrence et al. 2010) is a 21 item measure of how frequently respondents experience various stigmatising social behaviours. Possible scores range from 1 to 5, with a higher score indicating greater perceived stigma. The Social Comfort Questionnaire (SCQ; Lawrence et al. 2010) was chosen specifically as it measures social isolation and the violation of privacy (increased staring and questions being asked about the appearance) which was highlighted in a previous study (Barke et al. 2014) as being a particularly challenging aspect of NF1. The scale has 8 items and asks respondents to indicate (on a 5 point scale) how often they feel or think a series of statements. Possible scores range from 1 to 5, with a higher score indicating greater social comfort. The PSQ and SCQ have been validated with adults (Lawrence et al. 2006), and children and young people (Lawrence et al. 2010) with burns. The PSQ has also been used with children with a variety of visible differences (Masnari et al. 2012). In the current study, internal consistency was good to excellent (α = .91 on the PSQ and α = .87 on the SCQ).
Happiness A measure of subjective happiness was used in order to assess how the variables identified thus far impacted on young people's happiness (a positive sense of fulfilment, contentment, enjoyment of life and pleasure, often seen as one of the most important goals for life). It has been linked with many measures of positive wellbeing and is associated with many benefits across life. The relationship between happiness and health is well documented (Borghesi and Vercelli 2012) and the World Health Organisation emphasises happiness as a component of health (DeGargino 2004).
Happiness was measured using the Subjective Happiness Scale (SHS) (Lyubomirsky and Lepper 1999). This measure is based upon the evidence that objective circumstances, demographics and dispositional factors are not strongly correlated with happiness. People can consider themselves happy in spite of personal circumstances that would seem to predict otherwise. The SHS is a four item scale of global subjective happiness. Possible scores range from 4 to 28, with higher scores indicating greater subjective happiness. The SHS has been used in studies with children, young people and adults (Holder et al. 2012;Moghnie and Kazarian 2012;Swami 2008). In the current study, internal consistency was good (α = .88).

Parents' Survey
Appearance Parents were asked how often their child expressed concern about appearance (generally and NF1 specifically), and how confident they, as parents felt managing any concerns their child raised about appearance. In order to explore if appearance was a concern, parents were asked how NF1 affects (a) them and (b) their child and what the concerns they had at initial diagnosis and at the time of completing the questionnaire. They were also asked how noticeable they thought their child's NF1 was to others on a scale of 0 (not at all) to 10 (highly noticeable).
Child's Social Experience The PSQ and SCQ, as described above, were used in order to explore parents' perceptions of their child's social experience. Questions were altered to focus on 'my child' rather than the respondent (parent). The PSQ has been used previously to compare parent and child perceptions of stigma, again with burn survivors (Lawrence et al. 2011) and with children/adolescents with acquired and congenital facial differences and their parents (Masnari et al. 2012). The SCQ has not been used in this way previously. In the current study the PSQ and SCQ demonstrate good internal consistency (PSQ α = .89 and SCQ α = .90).
As parents were included specifically to explore differences between them and their child regarding noticeability and accounts of social comfort they were not asked to complete measures related to their child's body esteem or happiness.

Data Analysis
The quantitative data resulting from standardised measures was analysed using the statistical program SPSS (version 19), after checking the distribution of variables, examining histograms and checking for outliers by examining boxplots.
The use of parametric tests was found to be justified. Alongside exploring descriptive data, independent ttests, a multiple regression analysis and Pearson product moment tests of correlation were employed. If any data was missing on a measure the person's scores were not included in the analysis.
Qualitative data was analysed using content analysis, whereby text is classified into smaller categories that can be quantified; it is systematic and replicable and can deal with large volumes of data (Stemler 2001). Open ended responses to questions were compiled into a list and were read several times by the first author. Responses were coded comment by comment leading to an initial list of codes which were refined through sharing and discussing codes within the team (Morse et al. 2002). Once a final list was identified all comments were then coded into this list. Data was then quantified by counting the frequency of each code.

Young People
Seventy three young people completed the survey (22 paper copies, 51 online) and all confirmed they had a diagnosis of NF1. 34 % (n = 25) had a family member with NF1, 59 % (n = 43) had no family history of the condition and 7 % (n = 5) were unsure whether any family members had the condition. Further details are provided in Table 1. Table 2 summarises results from standardized measures in the young people's questionnaires.
One quarter (n = 17) of young people in this study scored below one on the BE scale, indicating very low body esteem while 33.9 % (n = 23) scored three or four indicating positive body esteem. An independent t-test showed no significant difference on any measure (PSQ, SCQ, SHS, BE) between the 33 (47.1 %) who reported NF1 was noticeable to other people and the 37 (52.9 %) who did not.
No participants reported total PSQ scores in the 'often' or 'always' categories, 36.2 % (n = 21) of participants reported perceived stigma in the 'sometimes' range and 63.8 % (n = 37) scored in the range of 'never' to 'almost never'. The majority of participants (84.6 %, n = 55) scored social comfort in the 'sometimes' and 'often' range, 13.8 % (n = 9) reported low levels of social comfort and 1.5 % (n = 1) felt social comfort 'always'.
On the SHS, 61 % rated themselves as slightly to extremely happy, 17.3 % were slightly to extremely unhappy while 21.7 % scored in the neutral range.
The relationship between the SHS, PSQ, SCQ and BE (appearance) was investigated, findings are shown in Table 3.
A Multiple regression analysis was used to test if participants' ratings of Body Esteem, Perceived Stigma and Social Comfort significantly predicted participants' ratings of Happiness (see Table 4). The results of the regression indicated the predictors explained 45 % of the variance overall (R 2 = .45, F (3, 51) =15.82, p < .05), it was found that only Body Esteem significantly predicted happiness (β =0.53, p < .01) suggesting that the BE appearance subscale explains over half of the variance in happiness.
Sixty four participants responded to the open ended question about their main concern about NF1. Using content analysis, responses were coded into eight categories (see Table 5).

Parents
Fifty five parents completed the survey (32 online, 23 paper), 94.5 % (n = 52) were White British, American or Irish. All respondents indicated that they had a child aged 14-24 with NF1, 45.6 % (n = 24) of these children were male (1 person did not provided this information). Just over half (56.3 %, n = 31) of respondents had children aged under 18. Twenty three parents (41.8 %) had a diagnosis of NF1 themselves, 43.6 % (n = 24) reported that their child's NF1 was inherited and 52.7 % (n = 29) said it was new to the family, whilst two respondents were unsure. Further details are provided in Table 1. Table 6 provides details of data from standardized measures in parents' questionnaires.
The majority of parents reported that their child rarely or never expressed concern regarding appearance in general (79 %; n = 42) or about appearance-related aspects of NF1 (85 %; n = 45). Most parents (66 %, n = 24) were confident above the mid-point on the scale (scoring 6-10 on a scale of 0-10, with 10 being very confident) in managing their child's appearance concerns, however 34 % (n = 12) indicated confidence levels between 0 and 5 on the scale suggesting low levels of confidence. The majority of parents (60 %, n = 32) felt their child's attitude towards appearance had not really changed at any point. Of those who did feel their child's attitude had changed, many thought this was due to being a teenager (46 % n = 13).
Around a quarter of parents (28 %, n = 15) felt their child's NF1 was not at all noticeable to others (scoring 0). The same number felt it was noticeable over the midpoint (between 6 and 10). The mean noticeability score was 3.57 (SD 3.220). The relationship between noticeability and the PSQ and SCQ was investigated using Pearson product moment correlation coefficient. There was a strong positive correlation between noticeability and the PSQ, and a strong negative correlation with the SCQ (see Table 7), indicating that greater perceived noticeability related to greater perceived stigma and lower levels of social comfort.
PSQ scores indicated most parents (n = 30, 70 %) perceived that their child never or almost never felt they were stigmatized, although 9 % (n = 4) thought that their child often felt stigmatized by others. Scores on the SCQ indicated parents were fairly evenly divided between thinking their children felt socially comfortable almost never (25 %, n = 12), sometimes (37.5 %, n = 18) or often (31.3 %, n = 15). No parents reported that their child was never socially comfortable and three (6.3 %) reported 'always'.
Parents' reports of the main ways in which NF1 affected their child and the way in which having a child with NF1 affected them were coded and grouped into categories shown in Table 8.
In addition to considering the effect of NF1 on themselves and their child, parents were asked to reflect on their concerns at the time of initial diagnosis and at the time of completing the questionnaire. The most commonly reported concern at the time of diagnosis related to understanding the condition and the medical prognosis (n = 22, 59 %). At the time of completing the questionnaire the most common concern related to their child being generally happy and living a normal adult life (n = 26, 43 %).

Discussion
Previous research has reported negative body image and appearance concerns amongst adults with NF1 (Granström et al. 2012;Smith et al. 2013) and a less positive body image amongst young people with a chronic condition than healthy peers (Pinquart 2013), but there has been a dearth of research exploring body image amongst young people with NF1. The mean body esteem scores for the young people in the current study were similar to those reported in a normative population (Mendelson et al. 2001) and amongst burn survivors and a normative group (Lawrence et al. 2006). This, in addition to just 15 % of those in this survey reporting highly negative body esteem, suggests that while some young people with NF1 have low body esteem and may benefit from support, many had positive body esteem. It would therefore be premature to assume that NF1 necessarily has a negative impact on body image, although there is still a need for support for those who are negatively affected by the changes to their appearance.  The noticeability of NF1 was a significant factor within parents' reports of their child's experience of NF1, but not within young people's own reports. Differences between parents' and young people's perceptions of the impact of severity of NF1, both in terms of appearance and clinical severity, have been reported previously (Counterman et al. 1995;Sebold et al. 2004). Sebold suggests that these differences relate to young people's changing cognitive ability, which enables a greater understanding of the effects of their condition and point out that older adolescents' scores were more closely aligned to their parents' assessments of severity. In the current study, young people were substantially older (survey mean age = 20.4 years) than both Counterman's and Sebold's adolescent groups (mean ages =11.8 and 15 years, respectively) yet the differing importance of noticeability between parents and young people was still apparent.
It is unclear exactly why parents reported noticeability as important. The interviews with parents within our programme of research (see Barke et al. 2016) suggest it may relate to vigilance in searching for signs of the condition and concerns over how visible differences could impact on a child's life, both of which Thompson and Kent (2001) have suggested increase the emphasis parents place on appearance. Managing uncertainty has been highlighted as central to the experience of parenting a child with a chronic health condition (Stewart and Mishel 2000) and vigilance is a coping mechanism that parents use to manage this uncertainty (Jessop & Stein 1985).
It is important to note that the parents and young people in the current study were not necessarily from the same family. Therefore some differences in the reported noticeability between the two respondent groups may not be a difference in perceptions, but an actual difference in noticeability. While we cannot rule this out it is interesting to reflect that this difference was also apparent during earlier interview studies, including when interviewing parents and young people in the same family.
Our finding that young people's reports of noticeability were not significantly associated with happiness, social interactions or body esteem contradicts previous research with adults with NF1 which has linked reported visibility of NF1 and psychological wellbeing (Granström et al. 2012;Wolkenstein et al. 2009;Mendelson et al. 2001). It is important to note that quality of life and body experience (defined as how secure and confident people felt about their bodies) mediated the relationship between visibility and psychological stress in Granstrom et al's study. Similarly, Lawrence et al. (2006) found that the importance placed on appearance by burns survivors moderated the relationship between subjectively reported severity and body esteem. This suggests that the importance placed on appearance generally is relevant to people's experiences of living with a visible difference, possibly more so than the noticeability of the visible difference.
Adapting to, and living with, a visibly different appearance is an evolving process (Prior and O'Dell 2009) and managing a changeable, unpredictable appearance may be particularly challenging (Rumsey et al. 2010). Appearance-related concerns reported by the young people in this survey related to possible changes to appearance in the future, more often than current appearance. Young people with NF1 did not report particularly low levels of happiness, appearance evaluations or negative social interactions. In line with findings with young adults with other genetic conditions, such as Marfan syndrome (Van Tongerloo and De Paepe 1998), and young people with other visible differences (Rumsey and Harcourt 2007) many young people with NF1 were happy and felt positive about social interactions and their appearance.   Main concern N (%) Specific medical concern 18 (28 %) Appearance changes in the future 16 (25 %), Passing NF1 on to future children 15 (23 %), Current appearance concern 5 (8 %), Learning difficulties and educational issues 4 (6 %), Social concerns 4 (6 %), Others not knowing about NF1 1 (2 %) No concerns 1 (2 %)

Study Limitations
A limitation of this study is the different ways in which noticeability was measured in the parents' and young people's surveys, since we used questions which reflected how young people and parents discussed the concept in the interviews that informed the development of these surveys. This has meant that the findings of the two surveys could not be directly compared. With hindsight, the surveys could have used the same assessment of noticeability for both the young people and parents. Robust methods for measuring subjective accounts of noticeability that can be used with different population groups are still needed in order to further understand the role of noticeability within people's experiences of a visible difference. It is important to note that the parents and young people in the current study were not necessarily from the same family. Therefore some differences in the reported noticeability between the two respondent groups may reflect a difference in actual (ie. objective) as opposed to perceived (subjective) noticeability. While we cannot rule this out, it is interesting to reflect that this finding was also apparent during previous qualitative research that informed the current study, including when interviewing parents and young people in the same family. Whilst the international reach of the questionnaire has increased the sample size and does not limit our findings to a single service, this could also be considered a limitation when considering the application of findings, since individuals were reporting on experiences in different healthcare systems. We attempt to overcome this by discussing the implications of findings broadly rather than particular clinical applications.
It is also important to note that NF1 has an incidence of around 1:2500/3000 and therefore we recognize that a sample size of 73 young people with NF1 and 55 parents is small.
Replication of this study with a larger sample size is needed in order to further explore the findings presented in this paper.
Whilst we attempted to address the possibility of selection effects through a broad and comprehensive recruitment strategy including promotion of the study through a range of national and international avenues, it is still possible that the volunteer sample, particularly those recruited online, may bias the respondents towards those who have had more similar experiences that may not be typical of NF1 patients as a whole.

Practice Implications
A particular implication of the current study is that whilst some young people clearly require support to manage a visible difference it is important that young people's experiences are not assumed to be negative. Given the highly varied accounts of appearance and NF1, supporting families and young people to be resilient and happy against a backdrop of uncertainty may be particularly beneficial for young people with NF1. This is not to suggest that issues around appearance should not be addressed. Parents and professionals working with young people with NF1 should be aware that young people's  concerns are not necessarily related to the noticeability of the condition and that any appearance concerns they hold may relate to uncertainty around future changes rather than how they look at a particular point in time.
Health professionals can play a key role in supporting appearance concerns simply by talking about appearance and normalising patients' concerns (Clarke 1999). In light of the findings presented in this study it may be appropriate for health professionals to ask young people directly about appearance, regardless of the noticeability of the individual's symptoms, and to feel confident in how, when and where to refer on those who may benefit from additional psychosocial support in relation to appearance.

Research Recommendations
Further research is needed to explore and understand the relationship between noticeability of a visible difference and psychosocial experience and adaptation. Longitudinal research that explores this through childhood, adolescence and into adulthood from the perspectives of young people with NF1, parents and clinicians would be particularly valuable.
To conclude, this survey highlights the importance of general aspects of appearance and concerns about possible future changes to appearance rather than the noticeability of NF1, and emphasises the importance of realising that young people's concerns may differ to those reported by parents.