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

Neurofibromatosis type 1 (NF1) is a genetic, autosomal dominant multi-organ disease characterized by susceptibility to tumor formation, changes in skin pigmentation, skeletal abnormalities, and neuropsychological deficits. Clinical studies have shown impaired health-related quality of life (HQoL) in adults with NF1. However, little is known about HQoL in non-clinical NF1 samples. We conducted a cross-sectional self-report survey of 142 persons with NF1 (M age = 50.3 years, SD = 12.0, range 32 to 80; 62.0% females) recruited from non-clinical settings. Several HQoL domains, including life satisfaction, mental health, sleep, pain, gastrointestinal problems, oral health, and social support, were compared between the NF1 sample and 46,293 controls from the HUNT3 population study. We also examined gender differences within the NF1 sample and predictors of HQoL. Compared to controls, the NF1 sample reported significantly poorer life satisfaction, mental health, sleep, and oral health, and more pain, gastrointestinal problems, comorbid diseases, and memory problems. Several HQoL domains were significantly correlated. Mental health was the only unique significant predictor of overall life satisfaction. Women with NF1 reported significantly more mental health, sleep, and pain problems than men with NF1. Mental health assessment and management should be integrated into clinical care of persons with NF1 to potentially improve their HQoL.

"She came out of mum's tummy the wrong way". (Mis)conceptions among siblings of children with rare disorders.

Misconceptions or uncertainty about the rare disorder of a sibling may cause adjustment problems among children. New knowledge about their misconceptions may enable genetic counselors to provide targeted information and increase siblings' knowledge. This study aims to describe misconceptions and uncertainties of siblings of children with rare disorders. Content analysis was applied to videotapes of 11 support group sessions with 56 children aged 6 to 17. First, children's statements about the disorder (turns) were categorized into the categories "identity," "cause," "cure," "timeline," and "consequences" and then coded as medically "correct," "misunderstood," or "uncertain." Next, turns categorized as "misunderstood" or "uncertain" were analyzed to explore prominent trends. Associations between sibling age, type of disorder, and frequency of misconceptions or uncertainties were analyzed statistically. Approximately 16 % of the children's turns were found to involve misconceptions or uncertainty about the disorder, most commonly about the identity or cause of the disorder. Misconceptions seemed to originate from information available in everyday family life, generalization of lay beliefs, or through difficulties understanding abstract medical concepts. Children expressed uncertainty about the reasons for everyday experiences (e.g. the abnormal behavior they observed). A lack of available information was described as causing uncertainty. Misconceptions and uncertainties were unrelated to child age or type of disorder. The information needs of siblings should always be addressed during genetic counseling, and advice and support offered to parents when needed. Information provided to siblings should be based on an exploration of their daily experiences and thoughts about the rare disorder.

Health service experiences among adults with hereditary spastic paraparesis or neurofibromatosis type 1.

BACKGROUND: Persons with rare disorders may experience poorer health services due to limited knowledge about rare disorders among health professionals. Knowledge about how persons with rare disorders perceive health services can help inform service providers to enhance their practices. METHODS: We conducted a self-report survey among adults with the rare disorders hereditary spastic paraparesis (HSP; n = 108; mean age 57.7 years; 54.2% females) and neurofibromatosis type 1 (NF1, n = 142; mean age = 50.3 years; 62.0% females). Their responses concerning perceived health experiences were compared to healthy controls from the population study HUNT-3 (n = 7,312). RESULTS: Both rare disorder groups reported lower satisfaction, trust, and participation in meetings with their general practitioner and specialist health services. More reported health problems were overall associated with poorer health service experiences. CONCLUSION: There is a need to identify predictors of health service experiences at the patient and health service provider levels with the aim to tighten the gap between the health experiences of patients with and without rare disorders.