Department of Pediatrics, Radboud Institute for Health Sciences, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.
Dutch Noonan Syndrome Foundation, Nijkerk, The Netherlands.
Orphanet J Rare Dis. 2023 Jul 21;18(1):198. doi: 10.1186/s13023-023-02818-y.
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.
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.
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.
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.
努南综合征谱障碍（NSSDs）构成 Rasopathy 中的一个群组，是已知对多器官受累有影响的最大综合征群组之一。临床表型的极端可变性部分归因于涉及的众多不同基因，以及在整个生命过程中的临床表现差异。我们研究了患者及其亲属的需求，旨在开发、评估并选择研究、医疗保健和政策的重点，以更好地满足他们的观点。
使用参与式和互动对话方法，80 名患者及其亲属提到了 53 个不同的问题或需求（主题），这些主题被分为八个主题。这些主题以及每个主题中的主题，随后通过按重要性顺序排列的方法进行了优先级排序。
四个优先级最高的主题是：（1）身体问题（非肌肉骨骼相关）；（2）社会、情感和行为问题；（3）认知功能和信息处理；以及（4）与肌肉骨骼系统相关的问题。53 个主题中有 19 个是身体问题。根据总受访者，主题 1 中优先级最高的三个主题是凝血问题、心脏问题和喂养问题。根据年龄组、表型（NS 和其他 NSSDs）和性别对数据进行分层，也显示出一些显著的结果。例如，根据 0-12 岁的患者，喂养问题被列为最高优先级主题中最重要的主题。此外，根据女性患者（2）与男性患者（7）相比，喂养问题在其优先级排序中存在显著差异。另一方面，心脏问题在年龄最小的群体中未被列为前三个优先级主题，尽管心脏问题通常被认为对 NSSD 患者最重要。
通过我们的结果，我们强调了从方法论上清点 NSSD 患者需求的重要性，不仅要在群体层面上，还要根据例如年龄、表型和性别等因素关注特定需求。例如，令人瞩目的是，当前的临床指南和努南综合征诊断标准都几乎没有关注喂养问题，尽管我们的结果表明，对于最年轻的患者，这些问题是最重要的。类似的情况似乎也适用于凝血、神经心理学和肌肉骨骼问题（如物理治疗或职业治疗）的临床管理，以及对支持患者在学校或工作中的（教育）工具的需求。我们的研究可能有助于塑造医疗（研究）机构内外有针对性的（临床）管理、研究和政策，并阐明 NSSDs 的复杂表型、家庭和患者对许多不同问题的日常后果的看法，以及他们的需求。
