Cost-effectiveness analysis of a psychosocial web-based intervention for adolescents distressed by a visible difference: Results from a randomized controlled trial in Norway.

Adolescents with a visible difference to the face or body (e.g., due to a congenital condition, illness, or injury), may be at risk of elevated psychological distress. Young Person's Face IT (YPF), a web-based psychosocial intervention, has displayed effectiveness, but no previous study has specifically evaluated its cost-effectiveness. The aim of our study was to investigate whether YPF could be a cost-effective alternative for psychosocial support to adolescents distressed by a visible difference, relative to care-as-usual (CAU). Within the context of a randomized controlled trial in Norway, 102 participants (43% boys) were allocated to intervention (n = 55) or waiting list control group (n = 47). Mean age was 13.9 years (SD = 1.71; range 11-18), and all self-identified as experiencing distress related to a visible difference. Participants answered questionnaires including measures of health-related quality of life and social anxiety at baseline and 3-month follow-up. A health economic evaluation using the method of cost-utility analysis was performed, including quality-adjusted life-years (QALYs). Results indicated that the incremental cost-effectiveness of YPF was 63,641 Norwegian kroner per QALYs gained, which is well within the acceptability threshold in the Norwegian healthcare sector. Hence, YPF could potentially be considered a cost-effective intervention for adolescents experiencing distress related to a visible difference, but more research is needed that includes comparisons of YPF to other health- and societal resources and long-term follow-ups. Our study also constitutes an addition to research as, compared to interventions for somatic diseases, there is a lack of studies exploring the cost-effectiveness of psychological interventions.

Social support experiences when growing up with a parent with Huntington's disease.

Background: Social support is a strong protector factor against the many negative effects stress and adversity in childhood can have on short- and long-term health. However, for young people who are exposed to adversity because their parent suffers from severe neurodegenerative disease, such as Huntington's disease (HD), support from close caregiving relationships can be compromised. This study aimed to investigate what current and past experiences young people who grow up with a parent with HD have with social support outside the parent-child context. Methods: A total of 36 semi-structured qualitative interviews with individuals who had current and past experiences growing up with a parent with HD were analysed using thematic analysis. Findings: Relationships were experienced as supportive when they provided a sense of love, care, or belonging; when they provided coping skills; and when they reduced or alleviated stressors at home. Barriers to receiving and accepting support included their parent's and others' lack of acknowledgement and understanding about their situation and the young people's own need to protect themselves or their family from support they feared could cause harm. Conclusion: Our findings highlight the many important roles persons other than caregivers can have in helping young people who grow up with the distress and adversity of having a parent with a severe disease, such as HD. The findings suggest that by sustaining positive and adaptive emotions and/ or changing distressing emotions, social support help and can compensate for a lack of support in their caregiving relationships. In order for others to be experienced as supportive, the many barriers this vulnerable group may encounter must be addressed and overcome. Most importantly, support providers must understand how HD affects young people.

Is it safe? Exploring positive and negative outcome changes following a web-based intervention for adolescents distressed by a visible difference (YP Face IT).

Despite the importance of making sure that psychological interventions are safe, research including both positive and negative effects of novel internet-delivered support is scarce. The aim of our study was to explore whether, and in what way, a new intervention for adolescents distressed by a visible difference (YP Face IT; YPF, Norwegian version) led to positive and/or negative outcome changes. Participants were 79 adolescents (62.00% girls; Mage = 13.84, SD = 1.73), with a visible difference. All had access to the YPF programme and answered questionnaires assessing social anxiety and body esteem pre- and post-intervention. Analyses included calculations of statistical as well as clinically significant and reliable changes. Results showed that fewer participants reported clinical levels of social anxiety and low body esteem after access to YPF. Results also indicated that participants who had a positive pre- to post-intervention change had lower levels of perceived self-worth pre-intervention, and spent more time on the intervention than those with a negative pre- to post change. Three participants showed a clinically significant negative and reliable change in social anxiety or body esteem from pre- to post-intervention. However, based on an examination of these participants' characteristics, preliminary findings support the safety of YPF.

Dilemmas when talking about Huntington's disease: A qualitative study of offspring and caregiver experiences in Norway.

Research provides a compelling list of reasons why offspring should be included in honest conversations about disease when the disease affects their caregivers. Despite this, we lack in-depth knowledge about how families affected by the severe and complex genetic condition Huntington's disease (HD) experience talking about the many aspects of how this disease affects their lives. This study aimed to provide an in-depth exploration of how offspring with a caregiver with HD and caregivers with a partner with HD experienced talking about disease throughout childhood. Thematic analysis was conducted with semistructured interviews of both caregivers (n = 14) and offspring (n = 36) from families affected by HD, reflecting both current and past experiences. In addition to highlighting the many needs offspring have for knowledge and conversation about the disease with their caregivers, our findings also show that a variety of dilemmas can follow these conversations, including when to talk, what to say, how often HD should be talked about on a day-to-day basis, and whether to share disease-related information with others outside the family. The findings show the complexity of talking with offspring about HD. A difficult task for both offspring and caregivers seemed to be finding out how to balance the many dilemmas that arise in conversations and how to use dialogue to best help offspring adapt and cope with the many challenges that can come with HD. The findings can assist health care professionals, such as genetic counselors, prepare, and guide families affected by HD in the many and complex conversations that arise about the disease, in turn helping offspring adjust and cope with their current lives or future lives affected by HD.

Reducing social anxiety in adolescents distressed by a visible difference: Results from a randomised control trial of a web-based intervention.

A visible difference to the face or body may challenge adolescents' adjustment and engagement in life activities, where some require psychosocial support. However, evidence is limited for whether existing interventions for this adolescent group reduce social or appearance-related distress. We therefore conducted a parallel-group, randomised control trial to evaluate the effectiveness of Young Person's Face IT, a self-guided web-based psychosocial intervention developed for adolescents with a visible difference who experience distress. Adolescents (N = 189, aged 11-18) from two countries (Norway and the Netherlands), were randomly allocated to an intervention group or care as usual (CAU). Outcomes were body esteem, social anxiety, perceived stigmatisation, and life disengagement. Compared with CAU, participants who completed Young Person's Face IT showed reductions in social anxiety symptoms (ηp2 = 0.06). No significant improvements were found for the other outcomes. This study endorses web-based psychosocial support in reducing social anxiety in adolescents distressed by a visible difference. Future studies are needed to confirm the effectiveness of Young Person's Face IT and to explore potential long-term effects.

'I knew it wasn't normal, I just didn't know what to do about it': adversity and caregiver support when growing up in a family with Huntington's disease.

OBJECTIVE: Excessive adversity in childhood can have long-term consequences on health and well-being. One group of children that may be at risk are those who grow up with a parent with Huntington's disease (HD). Despite this, there is little knowledge about how these children are impacted by adversity. We aimed to explore adverse childhood experiences (ACEs) of individuals who grew up with a parent with HD and their perceptions of caregiver support. DESIGN: Semi-structured qualitative interviews of 36 adults and adolescents were analysed using interpretative phenomenological analysis (IPA). RESULTS: First, the analysis revealed a range of frequent adverse events during participants' childhoods, leading to feelings of uncertainty, loss, fear, and a lack of care. Next, how the presence or absence of support had impacted participants' perceptions of these experiences was analysed. Results showed that participants without support were often overwhelmed by feelings of stress, whereas participants with support tolerated adversity better. CONCLUSION: Findings suggest that children in families with HD can be exposed to a range of adverse experiences. Findings also suggest that sufficient support from a caregiver without HD can buffer or protect against negative consequences of these experiences.

Adolescents and parents' perception of Young Person's Face IT: An online intervention for adolescents struggling with conditions affecting their appearance.

Objective: A visible difference in appearance caused by a congenital or acquired condition can negatively affect adolescents' psychosocial well-being. Young Person's Face IT (YPF) is an online intervention based on cognitive behavioural therapy and social skills training, developed to help adolescents who struggle with adjusting to a visible difference. The objective of the present study was to explore adolescents' and parents' perceptions of the intervention's relevance and usefulness in supporting young people with appearance-related psychosocial concerns. Methods: Participants were adolescents (N = 76, aged 11-18) and parents (N = 15), recruited in a larger randomised controlled trial aiming at evaluating YPF. This qualitative study with descriptive data includes adolescents' ratings on YPF's usefulness, and interview data from adolescents and parents on their experiences with YPF. The interviews were analysed using a thematic approach. Results: Results indicated that YPF was experienced as useful and relevant. Interviews showed that adolescents felt validated through the programme's content, discovered that other young people had similar experiences and felt that YPF could contribute to changing self-perceptions for the better. However, results could not confirm whether perceived usefulness led to the development and use of new social skills in real-life situations. Conclusion: This study offers new perspectives on the relevance and usefulness of YPF in supporting adolescents with appearance-related psychosocial concerns. Findings suggest that updates and modifications are required so that YPF stays relevant and useful for adolescents in need of support. Trial registration number: NCT03165331.

Recruiting hard-to-engage groups to online psychosocial interventions: Experiences from an RCT study targeting adolescents with a visible difference.

Online interventions have the potential to reach individuals who are otherwise difficult to engage due to stigma and sensitive topics. However, these individuals also tend to be hard to recruit in clinical trials, a crucial step in order to provide evidence-based interventions. This highlights a need for more information about efficient recruitment strategies for difficult-to-engage groups. The present study aimed to share the systematised experiences of recruiting adolescents with a visible difference to an online psychosocial intervention RCT. With the intention to recruit 160 participants (age 12-17), recruitment efforts were nationwide and included multiple arenas (e.g., hospitals, schools, social media), and methods (e.g., in-consultation, targeted letters, posters). Ultimately, 102 participants were recruited, and results showed that recruitment involving patient organisations, hospital departments, and specialised resource centres were most successful in reaching participants. The most efficient recruitment strategy was targeted letters sent home to eligible patients/members, as 78% of the participants were recruited this way. Media and social media recruitment efforts yielded comparatively few participants. No participants were recruited through schools and educational health care services, primary health care services, or municipal and regional authorities. Our results are discussed in relation to barriers with recruiting difficult-to-engage groups to RCTs, providing useful recruitment tools to future similar studies. For instance, future studies are recommended to utilise targeted approaches over general population approaches. Also, results from recruitment efforts should routinely be reported, as this ultimately will provide more general strategies for effective recruitment and support studies in reaching recruitment goals.

"It's tough because I see that it's upsetting her ": A qualitative exploration of parents' perceptions of talking with their adolescents about having a visible difference.

Many adolescents live with a visible difference that affects their lives in profound ways, but studies investigating parents' perceptions of raising appearance issues during conversations with their adolescent are lacking. As part of a larger study exploring the effectiveness of a web-based intervention (YP Face IT), semi-structured interviews were conducted with 18 parents of adolescents with a visible difference. Thematic analysis revealed four overarching themes: (1) Conversational settings; (2) Understanding adolescents' feelings and thoughts; (3) Providing parental guidance and encouragement; and (4) When the dialogue becomes difficult. Results showed that parents resorted to specific settings when instigating conversations about appearance, such as when their adolescents expressed a need for emotional care, were perceived to be upset, or whilst managing their condition. The choice of setting was also important as some parents generally felt uncomfortable raising appearance issues with their adolescent, for fear of fueling appearance concerns. Results further suggest that open communication can enable parents to stay informed about their adolescent's psychosocial adjustment to a visible difference. These results stress the need to make available support to facilitate open communication about appearance-related topics between parents and adolescents.

Life expectancy and cause of death in individuals with haemophilia A and B in Norway, 1986-2018.

OBJECTIVES: Evaluate trends over time in age- and cause of death in males with haemophilia (PWH) in Norway compared with the general male population and investigate its correlates with improvements in haemophilia treatment. METHODS: Data about age and cause of death in the period of 1986-2018, from two independent, high-quality national registries: the Norwegian Cause of Death Registry (NCoDR) and the patient registry at Centre for Rare Disorders (CRD), Oslo University Hospital. RESULTS: Life expectancy increased significantly from 1986 to 2018. However, PWH still had a decreased mean age at death of 56.8 years (SD = 24.7) in the NCoDR and 58.6 years (SD = 21.7) in the CRD data, compared with 73.9 years (SD = 16.3) in the general male population. There was a distinct shift in the most frequently reported haemophilia-related causes of death, such as haemorrhage and AIDS, to more age-related causes of death, such as cancer, reflecting an ageing population. CONCLUSION: Haemophilia treatment has improved significantly in the last three decades. Despite treatment-related improvements, PWH in Norway still have a decreased life expectancy compared with the general male population.

Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study.

There is a lack of qualitative research investigating the experience of individuals at risk for Huntington's disease (HD) during the period prior to undergoing predictive testing, as well as their reaction to the test result. This secondary analysis study aimed to explore the experiences during the predictive testing process of individuals who had been or who were at risk for HD. For the primary study, in-depth semi-structured interviews were conducted, and data were analyzed using inductive thematic analysis. We employed the explorative qualitative design for this study, which involved 33 individuals who had been or who were at risk for HD. Results indicate that many had been anticipating the onset of the disease even before they knew their mutation status. Their choice of whether to get tested or not was influenced by personal, social, and practical factors. Whether the test result was positive or negative, coping with the test result was reported to be difficult. Participants with a mutation-negative result felt a need for more follow-up consultations than what they had received. Findings indicate that the decision to undergo predictive testing for HD was not only a personal choice, but was also influenced by both proximal and distant factors. Similar to individuals who tested positive for the mutation, individuals who tested negative for the mutation may need comprehensive follow-up to adapt to the reality of the test result.

Living with a rare disorder: a systematic review of the qualitative literature.

BACKGROUND: Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically. METHODS: We performed a systematic review, including qualitative studies on adults, published between 2000 and 2016. Papers including more than one rare genetic or nongenetic diagnosis were included. Studies based on single diagnoses were excluded except for four specific conditions: hemophilia (bleeding disorder), phenylketonuria (metabolic disorder), Fabry disease (lysosomal storage disorder), and epidermolysis bullosa (skin disorder). RESULTS: The review identified 21 studies. Findings were synthesized and categorized according to three main themes: (1) Consequences of living with a rare disorder, (2) Social aspects of living with a rare disorder, and (3) Experiences with the health care system. Findings point to several unique challenges, such as the psychological, medical, and social consequences of a lack of knowledge about the condition in health care and social settings. CONCLUSION: The findings highlight the need for more research on the shared psychological and social impact of living with a rare diagnosis across conditions, in order to identify risk factors and inform clinical practice.

Socio-Economic Status and Reproduction among Adults Born with an Oral Cleft: A Population-Based Cohort Study in Norway.

BACKGROUND: It has been reported that people born with orofacial clefts do worse in life than their peers regarding a range of social markers, such as academic achievement and reproduction. We have compared otherwise healthy individuals with and without clefts, to investigate if these differences are due to the cleft or other background factors. MATERIALS AND METHODS: In a retrospective national cohort study, based on compulsory registers with data collected prospectively, we included everybody born in Norway between 1967 and 1992 (1490279 individuals, 2584 with clefts). This cohort was followed until the year 2010, when the youngest individuals were 18 years old. In order to ensure that the individuals were not affected by unknown syndromes or diseases, we excluded all individuals with any chronic medical condition, or who had other birth defects than clefts, hydroceles and dislocated hips. Individuals with oral clefts who were included in the study are said to have isolated clefts. RESULTS: Isolated cleft patients are similar to the general population regarding education, income and social class. Isolated cleft patients have lower fertility than the background population, but considering only married couples this difference in fertility disappeared. CONCLUSIONS: An oral cleft did not appear to affect future socioeconomic status or chances of becoming a parent for children born in Norway. An exception was males with cleft lip and palate, but differences were small.

Health Status Among Adults Born With an Oral Cleft in Norway.

Importance: Parents regularly express concern about long-term health outcomes for children who are born with an oral cleft. Objective: To assess whether oral clefts affect the health and ability to work of young adults. Design, Setting, and Participants: A population-based cohort study was conducted on all individuals born in Norway between calendar years 1967 and 1992 (n = 1 490 401). All patients treated for clefts in Norway during the study period were invited to participate (n = 2860). This study used population-based, long-term follow-up data from national registries to focus on the future health outcomes of individuals with cleft and no additional chronic medical conditions or congenital anomalies. A total of 523 individuals were excluded from the study cohort because they declined participation, could not be reached by mail, or had birth defects other than clefts. The final cohort, consisting of 2337 cases with isolated clefts and 1 413 819 unaffected individuals, was followed up until December 31, 2010, using compulsory national registries and clinical data. Data analysis was conducted from February 13, 2014, to April 18, 2016. Exposures: Oral clefts. Main Outcomes and Measures: Death, intellectual disability, schizophrenia, mood affective disorders, anxiety disorders, autism spectrum disorders, attention deficit/hyperactivity disorder, severe learning disability, cerebral palsy, epilepsy, muscle or skeletal disorders, trauma, and episodes of reduced health. Results: Of 2860 individuals born with an oral cleft, 2337 were included in the analysis; of these, 1401 were male (59.9%). Mean (SD) age in 2010 was 30.6 (7.7) years. Compared with unaffected individuals, no increased risks were found regarding morbidity or mortality among persons with isolated cleft lip only. Among individuals with isolated cleft lip and cleft palate, increased risks of intellectual disability (relative risk [RR], 2.2; 95% CI, 1.2-4.1) and cerebral palsy (RR, 2.6; 95% CI, 1.1-6.2) were found. Individuals with isolated cleft palate (ie, without cleft lip) had increased mortality (hazard ratio, 3.4; 95% CI, 2.1-5.7) in addition to an increased risk of intellectual disability (RR, 11.5; 95% CI, 8.5-15.6), anxiety disorders (RR, 2.9; 95% CI, 1.3-6.5), autism spectrum disorders (RR, 6.6; 95% CI, 2.8-15.7), severe learning disabilities (RR, 10.6; 95% CI, 5.5-20.2), cerebral palsy (RR, 4.8; 95% CI, 2.3-10.0), epilepsy (RR, 4.9; 95% CI, 2.2-10.8), and muscle or skeletal disorders (RR, 2.7; 95% CI, 1.4-5.4). Conclusions and Relevance: Young adults who were born with isolated cleft lip only did not differ significantly from unaffected individuals in their risk of health problems. However, individuals with isolated cleft palate had increased health risks and mortality. This information should be provided to genetic counselors, parents of children with clefts, and health care workers involved in the treatment or follow-up of these children.