Predictors of Adolescents' Response to a Web-Based Intervention to Improve Psychosocial Adjustment to Having an Appearance-Affecting Condition (Young Person's Face IT): Prospective Study.

BACKGROUND: Adolescents with a condition affecting their appearance that results in a visible difference can be at risk of psychosocial distress and impaired adjustment. Evidence for the effectiveness of existing interventions in improving psychosocial outcomes is limited, and relevant treatment can be difficult to access. Young Person's Face IT (YPF), a self-guided web-based intervention, has demonstrated potential in reducing social anxiety in adolescents with a visible difference. However, more knowledge is needed about the variables that contribute to variations in intervention effects to identify those who may benefit most from YPF. OBJECTIVE: This study aimed to investigate demographic, psychosocial, and intervention-related variables as predictors of overall intervention effects after adolescents' use of YPF. METHODS: We used longitudinal data collected as part of a larger, ongoing mixed methods project and randomized controlled trial (ClinicalTrials.gov NCT03165331) investigating the effectiveness of the Norwegian version of YPF. Participants were 71 adolescents (mean age 13.98, SD 1.74 years; range 11-18 years; 43/71, 61% girls) with a wide range of visible differences. The adolescents completed primary (body esteem and social anxiety symptoms) and secondary (perceived stigmatization, life disengagement, and self-rated health satisfaction) outcome measures at baseline and postintervention measurement. The predictor variables were demographic (age and gender), psychosocial (frequency of teasing experiences related to aspects of the body and appearance as well as depressive and anxiety symptoms), and intervention-related (time spent on YPF) variables. RESULTS: Two-thirds (47/71, 66%) of the adolescents completed all YPF sessions and spent an average of 265 (SD 125) minutes on the intervention. Backward multiple regression analyses with a 2-tailed P-value threshold of .20 revealed that several variables were retained in the final models and predicted postintervention outcome changes. Body esteem was predicted by age (P=.14) and frequency of teasing experiences (P=.09). Social anxiety symptoms were predicted by gender (P=.12), frequency of teasing experiences (P=.03), depressive and anxiety symptoms (P=.08), and time spent on YPF (P=.06). Perceived stigmatization was predicted by age (P=.09), gender (P=.09), frequency of teasing experiences (P=.19), and depressive and anxiety symptoms (P=.06). Life disengagement was predicted by gender (P=.03), depressive and anxiety symptoms (P=.001), and time spent on YPF (P=.14). Self-rated health satisfaction was predicted by age (P=.008). However, the results were limited by relatively low explained postintervention variance, ranging from 1.6% to 24.1%. CONCLUSIONS: This study suggests that adolescent boys, adolescents who experience higher levels of psychosocial distress related to their visible difference, and adolescents who spend sufficient time on YPF may obtain better overall intervention effects.

'It was Supposed to be a Secret': a study of disclosure and stigma as experienced by adults with differences of sex development.

Background: Differences of sex development (DSD) are a group of congenital conditions that involve variations in sex chromosomes, genes, external and/or internal genitalia, hormones, and secondary sex characteristics. The present study sought to highlight the everyday challenges faced by adults with DSD as well as to understand how issues such as disclosure, information sharing, and stigma affect their daily life. Method: We applied an interpretative phenomenological study design to explore the first-person perspectives. Semi-structured qualitative interviews of 15 adults aged 30-70 years living in Norway with five different DSD conditions (Turner syndrome, Klinefelter syndrome, congenital adrenal hyperplasia, Mayer-Rokitansky-Küster-Hauser syndrome and hypospadias) were analyzed using reflexive thematic analysis. Results: Living with DSD, indicated doing a balancing act between hiding and/or exposing what participants perceived differed from others bodies. Communication regarding sensitive topics proved to be important. The participants were doing invisible work to manage the balance between concealing and revealing their feeling of differentness, a work effort that was not necessarily perceivable to others but still affected everyday life of the participants. Furthermore, the participants' experiences of disclosure changed over time, as those who were diagnosed during childhood found that disclosure became easier with advancing age. However, being diagnosed as an adult seemed to increase the feeling of difference and complicate disclosure. Conclusion: Individuals with DSD should receive adequate information and have someone to practice disclosure towards, which could possibly strengthen the psychosocial aspects of living with their condition. The results emphasize the need to help individuals with DSD achieve a balance between disclosure and self-protection, overcome stigma, and determine when and how information about their DSD should be provided to others.

"Will You Still Feel Beautiful When You Find Out You Are Different?": Parents' Experiences, Reflections, and Appearance-Focused Conversations About Their Child's Visible Difference.

To investigate parents' reflections and experiences of having a child born with an appearance-altering condition, interviews with 33 parents of children born with rare craniofacial conditions were analyzed using inductive thematic analysis. Three themes emerged: "Managing emotions: A dynamic process," "Through another lens: External reminders of difference," and "Awareness of difference: Approaching the child." Findings suggest that although parents learned to accept and love their child's visible difference, external factors such as appearance-altering surgery and other people's reactions activated difficult emotions in parents. Parents struggled to decipher whether and when to raise appearance-related issues with their child, and how this could be done without distressing the child. Anticipatory guidance that facilitates positive appearance-focused conversations both within and outside the home seems to be needed. Parenting skills could also be strengthened by preparing parents for social reactions to the child's visible difference, and their child's changed appearance following surgery.

Speech and language difficulties in Huntington's disease: A qualitative study of patients' and professional caregivers' experiences.

BACKGROUND: Huntington's disease (HD) is a neurodegenerative disease characterized by a triad of motor, cognitive and psychological symptoms, leading to a gradual breakdown of communication skills. Few studies have investigated how people affected by HD and their professional caregivers, for example, medical doctors, physiotherapists and nurses, experience the patients' gradual loss of speech and language. AIMS: To examine communication-related experiences of patients and professional caregivers. Experiences with speech therapy and the use of augmentative and alternative communication aids (AAC) were also investigated. METHODS & PROCEDURES: Seven individuals with HD and seven professional caregivers were interviewed individually, using a semi-structured interview guide. Transcripts were analysed using a conventional content analysis, and the results presented in three main categories. OUTCOMES & RESULTS: Most individuals with HD were aware of having communication difficulties, struggling with understanding others as well as being understood. This was confirmed by professional caregivers, who also raised ethical issues encountered when patients struggled with communication. Both groups talked about external factors (such as noise or crowded social settings) as disrupting communication, and shared recommendations on how people in general, and speech and language therapists (SLTs) in particular, could optimize communication. Very few patients had received information about communication aids, and none was using AACs. Professional caregivers underlined the importance of interdisciplinary collaborations, including SLTs, in order to optimize care. CONCLUSIONS & IMPLICATIONS: Findings shed a light on everyday communication challenges faced by people with HD and their professional caregivers, and the lack of implementation of communication aids in this group. The dramatic impact of HD on patients' communication skills underscores the need to include SLTs in the follow-up of this patient group, ideally from the early stages of the disease, while the patient is still capable of voicing his/her own wishes and thoughts. Future research that explores how to optimize communication and implement the use of AACs for individuals with HD is needed. What this paper adds What is already known on this subject Although the ability to communicate gradually deteriorates in individuals affected by Huntington's disease (HD), there is little knowledge about how affected individuals experience the loss of speech and language skills. Interdisciplinary care is recognised as essential for this patient group. However, professional caregivers' thoughts and experiences of communicating with their patients have not been fully explored. Recent years have seen a rapid growth of available communication supporting technologies that could potentially be helpful for individuals with HD, but limited attention has been given to this subject. What this paper adds to existing knowledge What do we now know as a result of this study that we did not know before the results highlight that patients are aware of problems with speech and language even in early phases of the disease, and include patients' personal outlook on problems with communication. Professional caregivers raised ethical issues encountered when patients struggled with communication. Both groups described specific strategies that could facilitate communication. There was a significant lack of experience and knowledge about augmentative and alternative communication aids (AACs). What are the potential or actual clinical implications of this work? Clinical implications of this study. The introduction of communication aids in the follow-up of patients with HD needs to be discussed with the patients in the early phases of the disease, and implemented while the individual still has the capacity to learn and take advantage of alternative communication support. Results underline the importance of including speech and language therapists (SLTs) into multidisciplinary care of patients with HD. SLTs should be available also for professional caregivers who need advice on how to facilitate conversations and social interactions, in order to optimise care of patients with HD.

Age at Death and Causes of Death in Patients with Huntington Disease in Norway in 1986-2015.

BACKGROUND: The literature offers discrepant findings regarding age at death in individuals with Huntington disease (HD). OBJECTIVE: To study the age at death and causes of death in males and females with a diagnosis of HD in Norway. METHODS: Registry study of deaths in 1986-2015 using data from two national registries: the Norwegian Cause of Death Registry (NCDR) and the registry of the Centre for Rare Disorders (CRD), Oslo University Hospital. RESULTS: Mean age at death for individuals with HD was found to be 63.9 years (NCDR) and 61.7 years (CRD), compared to a mean of 76.9 years in the general population (NCDR). There were no significant gender differences for age at death in individuals with HD. The significant increase in age at death within the general population from 1986 to 2015 was not observed in individuals with HD. In 73.5% of individuals with HD, the underlying cause of death was HD, followed by cardiovascular diseases, cancer and respiratory diseases. The most common immediate cause of death was respiratory diseases (44.2%). Suicide was a more common cause of death in the population with HD (2.3%) compared to the general population (1.3%). CONCLUSION: The age at death of individuals with HD was stable over a period of 30 years and 13.3 years lower than in the general population. Longer life expectancy for females from the general population was not found in females with HD. Suicide was more common among individuals with HD compared to the general population.