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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...

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Autores principales: Tiemens, Dagmar K., Kleimeier, Lotte, Leenders, Erika, Wingbermühle, Ellen, Roelofs, Renee L., Sibbles, Barbara, Oostwegel, Floor S.M., Vroonland, Eva, van Leeuwen, Conny, Niessen, Hanneke, Sonnega, Paul, Duursma, Anniek, Willemsen, Michel A. A. P., Draaisma, Jos M. T., Pittens, Carina A.C.M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362585/
https://www.ncbi.nlm.nih.gov/pubmed/37480127
http://dx.doi.org/10.1186/s13023-023-02818-y
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author Tiemens, Dagmar K.
Kleimeier, Lotte
Leenders, Erika
Wingbermühle, Ellen
Roelofs, Renee L.
Sibbles, Barbara
Oostwegel, Floor S.M.
Vroonland, Eva
van Leeuwen, Conny
Niessen, Hanneke
Sonnega, Paul
Duursma, Anniek
Willemsen, Michel A. A. P.
Draaisma, Jos M. T.
Pittens, Carina A.C.M.
author_facet Tiemens, Dagmar K.
Kleimeier, Lotte
Leenders, Erika
Wingbermühle, Ellen
Roelofs, Renee L.
Sibbles, Barbara
Oostwegel, Floor S.M.
Vroonland, Eva
van Leeuwen, Conny
Niessen, Hanneke
Sonnega, Paul
Duursma, Anniek
Willemsen, Michel A. A. P.
Draaisma, Jos M. T.
Pittens, Carina A.C.M.
author_sort Tiemens, Dagmar K.
collection PubMed
description 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.
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spelling pubmed-103625852023-07-23 The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder Tiemens, Dagmar K. Kleimeier, Lotte Leenders, Erika Wingbermühle, Ellen Roelofs, Renee L. Sibbles, Barbara Oostwegel, Floor S.M. Vroonland, Eva van Leeuwen, Conny Niessen, Hanneke Sonnega, Paul Duursma, Anniek Willemsen, Michel A. A. P. Draaisma, Jos M. T. Pittens, Carina A.C.M. Orphanet J Rare Dis Research 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. BioMed Central 2023-07-21 /pmc/articles/PMC10362585/ /pubmed/37480127 http://dx.doi.org/10.1186/s13023-023-02818-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Tiemens, Dagmar K.
Kleimeier, Lotte
Leenders, Erika
Wingbermühle, Ellen
Roelofs, Renee L.
Sibbles, Barbara
Oostwegel, Floor S.M.
Vroonland, Eva
van Leeuwen, Conny
Niessen, Hanneke
Sonnega, Paul
Duursma, Anniek
Willemsen, Michel A. A. P.
Draaisma, Jos M. T.
Pittens, Carina A.C.M.
The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
title The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
title_full The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
title_fullStr The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
title_full_unstemmed The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
title_short The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
title_sort most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362585/
https://www.ncbi.nlm.nih.gov/pubmed/37480127
http://dx.doi.org/10.1186/s13023-023-02818-y
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