Neurofibromatosis type 1 affects quality of life (QoL) through association with severe complications, impact on cosmetic features, and uncertainty of the effects of the disorder.
Objective
To evaluate the impact of the severity and visibility of neurofibromatosis type 1 on QoL.
Design
Monocenter, cross-sectional study.
Setting
One French academic dermatological and neurofibromatoses clinic.
Patients
A total of 128 adult patients with neurofibromatosis type 1.
Main Outcome Measures
Evaluation of severity and visibility using, respectively, the Riccardi and Ablon scales. Evaluation of skin disease–specific and general QoL using, respectively, Skindex-France and SF-36 (Short Form 36 health survey) profiles controlled for sex, age, severity, and visibility.
Results
In a multiple regression model controlling for sex, age, and visibility, visibility remained independently associated with the alteration of 3 aspects of the skin disease–specific QoL (Skindex-France): emotions, physical symptoms, and functioning (P= .03,P= .009, andP= .002, respectively). Patients with more severe neurofibromatosis reported more effects on the following domains of their general health QoL (SF-36): physical function, bodily pain, general health perception, and vitality (P= .006,P= .03,P= .01, andP= .04, respectively).
Conclusions
Neurofibromatosis type 1 has a significant impact on QoL through alteration of health and appearance. The consequences of visibility and severity from the viewpoint of patients can be evaluated using Skindex and the SF-36, respectively.
Context: Untreated hypothyroidism is known to impair hearing, but little is known about the long-term hearing of patients treated for congenital hypothyroidism (CH) since the neonatal period. Objective: The purpose of this study was to assess hearing and its determinants in a population-based registry of young adult patients with CH. Design, Setting, and Participants: Self-declared hearing loss was evaluated in 1202 of the 1748 eligible patients with CH who completed a questionnaire on health status at a median age of 23.4 years. Audiograms were obtained for one third of the patients declaring hearing loss (37 of 107). Main Outcome Measures: Self-declared hearing loss and audiogram characteristics for patients reporting hearing impairment were measured. Results: These patients had a risk of self-declared hearing loss more than 3 times higher than that for the reference population (relative risk [RR] = 3.7; 95% confidence interval [CI], 2.9–4.7). Hearing impairment was diagnosed at a median age of 7.0 (25th–75th percentiles, 3.4–19.0) years, and 17% of affected patients required hearing support in early adulthood. Hearing loss was associated with the type of CH (patients with athyreosis and gland in situ were more frequently affected than those with an ectopic gland [RR = 2.61; 95% CI, 1.77–3.88]), with disease severity, as assessed by bone maturation delay at the time of diagnosis, with at least one knee epiphyseal ossification center absent in the most severe form (RR = 2.29; 95% CI, 1.39–3.79), and with other associated chronic diseases (RR = 3.64; 95% CI, 2.35–5.62). A trend for association with serum free T4 concentration at diagnosis was also observed (RR = 1.47; 95% CI, 0.96–2.23). Hearing loss was mostly bilateral (90%), mild to moderate (96%), of the sensorineural type (76%), and concerned high or very high frequencies. Conclusion: Despite major improvements in prognosis, hearing loss remains a significant problem, particularly in patients with severe CH. Parents and primary care providers should be aware of this risk, because early diagnosis and intervention could improve the long-term prognosis in these patients.
Objective. To further document the measurement properties of each domain of the OA of knee and hip quality of life (OAKHQOL) questionnaire by a Rasch analysis.
Background: The long-term safety of growth hormone treatment is uncertain. Raised risks of death and certain cancers have been reported inconsistently, based on limited data or short-term follow-up by pharmaceutical companies. Patients and Methods: The SAGhE (Safety and Appropriateness of Growth Hormone Treatments in Europe) study assembled cohorts of patients treated in childhood with recombinant human growth hormone (r-hGH) in 8 European countries since the first use of this treatment in 1984 and followed them for cause-specific mortality and cancer incidence. Expected rates were obtained from national and local general population data. The cohort consisted of 24,232 patients, most commonly treated for isolated growth failure (53%), Turner syndrome (13%) and growth hormone deficiency linked to neoplasia (12%). This paper describes in detail the study design, methods and data collection and discusses the strengths, biases and weaknesses consequent on this. Conclusion: The SAGhE cohort is the largest and longest follow-up cohort study of growth hormone-treated patients with follow-up and analysis independent of industry. It forms a major resource for investigating cancer and mortality risks in r-hGH patients. The interpretation of SAGhE results, however, will need to take account of the methods of cohort assembly and follow-up in each country.
