Neurofibromatosis Type 1 (NF1) may have many psychosocial consequences for affected adults. More knowledge is needed about the experience of psychosocial aspects in different stages of adulthood. This qualitative study aims to describe the experiences and concerns of persons living with NF1 in the early stages of adulthood. In semi-structured interviews, Norwegian adults with NF1 (n = 15) between 18 and 37 years of age described their experiences and concerns. Interview transcripts were analysed in a both concept and data driven way. Severity of NF1 was assessed from interview data. Our data indicate that many informants have more friends than in childhood, including friends with NF1. An important topic is whether or not to inform others about the NF1 diagnosis . Low self-confidence is common, often related to early school failure and bullying or to visible neurofibromas. The unpredictable development of NF1 causes much concern. The experience of NF1's impact seems less associated with the assessed severity than with social network, relation to the labour market, and psychological factors.

BackgroundHereditary spastic paraparesis (HSP) is a rare neurodegenerative condition characterized by slowly progressive spastic weakness of the lower limbs and urinary sphincter dysfunction. Complex HSP involves additional neurologic symptoms and signs like ataxia, extra pyramidal signs, polyneuropathy, and cognitive decline. Little is known about the disease burden for adults with HSP beyond the described core symptoms.MethodsA cross-sectional survey of 108 adults aged 30 years and older (Mage = 57.7 years, SD = 11.5, range 30 to 81; 54.2 % females) recruited from a national center of expertise for rare disorders and a patient advocacy organization in Norway. Self-report data from the HSP sample was compared to self-report data from a large Norwegian population study, HUNT3 (N = 46,293), covering health-related variables such as overall life satisfaction, mental wellbeing, memory function, perceived pain, and co-morbid diseases. In addition, the HSP sample reported specific items developed for this study in co-operation with the patient advocacy organization.ResultsThe HSP sample more frequently lived alone. Overall, the HSP sample reported lower life satisfaction, lower mental wellbeing and lower social support, as well as poorer memory and sleep, compared to controls. Furthermore, the HSP sample more frequently reported musculoskeletal pain, constipation, and urinary incontinence compared to controls. There was no difference between samples in frequency of physical activity and alcohol and tobacco use. Men with HSP reported higher impact of HSP, lower life satisfaction, and less ability to perform activities of daily living compared to women with HSP.ConclusionsAdults with HSP experience disease burden on a larger number of areas than previously documented, and men with HSP may represent a particularly vulnerable group.

A pilot programme was developed for training professionals to communicate in counselling situations via videoconferencing, with participants from Norwegian resource centres for rare disorders. The programme was conducted at three videoconferencing studios, and entailed three sessions involving role play, feedback, reflection, and discussion. After each session, participants received a short web-based questionnaire. The programme was generally perceived as realistic, with 95% of participants considering it to be a suitable training method and 94% reporting greater awareness of how to engage successfully in dialogue during videoconferencing. Those who experienced technical difficulties reported significantly lower satisfaction with the role play, feedback, and discussion segments. Experiences conveyed in the feedback and reflection segments are described, demonstrating the importance of an appropriate technical infrastructure and giving useful insights into how videoconferences should be performed. The programme could be replicated and developed further and offered to professionals who give counselling services via videoconferences.