The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.

BACKGROUND: Noonan syndrome spectrum disorders (NSSDs) constitute a group within the Rasopathies, and are one of the largest groups of syndromes with impact on multi-organ involvement known. The extreme variability of the clinical phenotype is, among others, due to the numerous different genes that are involved, and the differences in clinical presentation over the life span. We have studied the needs of patients and their relatives aiming to develop, evaluate and choose focus in research, medical care and policy to better meet their perspectives. METHODS: Using the participatory and interactive Dialogue method, 80 patients and relatives mentioned 53 different problems or needs (topics) that were categorized into eight themes. These themes and the topics within each theme, were subsequently prioritized by putting them in order of importance methodologically. RESULTS: The four highest prioritized themes were: (1) Physical problems (non-musculoskeletal related); (2) Social, emotional and behavioral problems; (3) Cognitive functioning and information processing; and (4) Problems related to the musculoskeletal system. Nineteen out of the 53 topics were physical problems. According to the total group of respondents, the top 3 prioritized topics within theme 1 were coagulation problems, heart problems, and feeding problems. Also data stratified by age groups, phenotype (NS and other NSSDs) and gender showed some remarkable results. For instance, feeding problems were prioritized as the most important topic of the highest prioritized theme, according to patients aged 0-12 years. Also feeding problems show a significant difference in its prioritization according to female patients (2) compared to male patients (7). On the other hand, heart problems were not mentioned in the top three prioritized topics in the youngest age groups, although heart problems are generally considered most important for patients with NSSD. CONCLUSIONS: With our results we underline the importance of methodologically inventorying the needs of NSSD patients, not only at the group level, but to also focus on specific needs according to e.g. age, phenotype and gender. For instance, it is remarkable that both the current Clinical Guidelines and the Noonan Syndrome diagnostic criteria give little to no attention to feeding problems, though our results indicate that, to the youngest patients, these problems have top priority. A similar situation appears to apply to the clinical management of e.g. coagulation, neuropsychological and musculoskeletal problems (like physiotherapy or occupational therapy) and to a need for (educational) tools to support patients at school or at work. Our study may help to shape targeted (clinical) management, research and policy inside and outside medical (research) institutes and shed light on the complex phenotypes of NSSDs, the families' and patients' perspectives on the everyday consequences of the many different problems, as well as their needs.

Attitude toward livestock farming does not influence the earlier observed association between proximity to goat farms and self-reported pneumonia.

Attitudes toward environmental risks may be a source of bias in environmental health studies because concerns about environmental hazards may influence self-reported outcomes. OBJECTIVE: The main aim was to assess whether earlier observed associations between proximity to goat farms and self-reported pneumonia were biased by participants' attitude toward farming. METHODS: We developed an attitude-score for 2,457 participants of the Dutch Livestock Farming and Neighbouring Residents' Health Study (veehouderij en gezondheid omwonenden) by factor analysis of 13 questionnaire items related to attitude toward livestock farming. Linear regression analysis was used to assess associations between attitude and potential determinants. The effect of attitude on the association between goat farm proximity and pneumonia was analyzed by evaluating (1) misclassification of the outcome, (2) effect modification by attitude, and (3) exclusion of participants reporting health problems due to farms in their environment. RESULTS: In general, the study population had a positive attitude toward farming, especially if participants were more familiar with farming. Older participants, females, ex-smokers, and higher-educated individuals had a more negative attitude. Both self-reported respiratory symptoms and exposure to livestock farms were associated with a more negative attitude. Misclassification of self-reported pneumonia was nondifferential with regard to participants' attitude. Furthermore, no indication was found that the association between proximity to goat farms and pneumonia was modified by attitude. Excluding subjects who attributed their health symptoms to livestock farms did also not change the association. CONCLUSIONS: The association between goat farm proximity and pneumonia was not substantially biased by study participants' attitude toward livestock farming.