Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Division of Infection, Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
Eur J Hum Genet. 2022 Jul;30(7):841-847. doi: 10.1038/s41431-022-01097-8. Epub 2022 Apr 6.
The existing knowledge about morbidity in adults with Rubinstein-Taybi syndrome (RTS) is limited and detailed data on their natural history and response to management are needed for optimal care in later life. We formed an international, multidisciplinary working group that developed an accessible questionnaire including key issues about adults with RTS and disseminated this to all known RTS support groups via social media. We report the observations from a cohort of 87 adult individuals of whom 43 had a molecularly confirmed diagnosis. The adult natural history of RTS is defined by prevalent behavioural/psychiatric problems (83%), gastrointestinal problems (73%) that are represented mainly by constipation; and sleep problems (62%) that manifest in a consistent pattern of sleep apnoea, difficulty staying asleep and an increased need for sleep. Furthermore, over than half of the RTS individuals (65%) had skin and adnexa-related problems. Half of the individuals receive multidisciplinary follow-up and required surgery at least once, and most frequently more than once, during adulthood. Our data confirm that adults with RTS enjoy both social and occupational possibilities, show a variegated experience of everyday life but experience a significant morbidity and ongoing medical issues which do not appear to be as coordinated and multidisciplinary managed as in paediatric patients. We highlight the need for optimal care in a multidisciplinary setting including the pivotal role of specialists for adult care.
现有的关于 Rubinstein-Taybi 综合征（RTS）成人发病率的知识有限，需要详细的数据来了解其自然病史和对管理的反应，以便在以后的生活中提供最佳的护理。我们成立了一个国际多学科工作组，制定了一份通俗易懂的问卷，其中包括 RTS 成人的关键问题，并通过社交媒体分发给所有已知的 RTS 支持团体。我们报告了一组 87 名成年个体的观察结果，其中 43 名有分子确诊的诊断。RTS 的成人自然病史以普遍存在的行为/精神问题（83%）、胃肠道问题（73%）为特征，主要表现为便秘；以及睡眠问题（62%），表现为一致的睡眠呼吸暂停、入睡困难和睡眠需求增加。此外，超过一半的 RTS 个体（65%）有皮肤和附属器相关问题。一半的个体接受多学科随访，在成年期至少接受过一次手术，而且大多数人不止一次。我们的数据证实，RTS 成人享有社交和职业机会，对日常生活有多种体验，但患有明显的发病率和持续的医疗问题，这些问题似乎没有像儿科患者那样得到协调和多学科的管理。我们强调需要在多学科环境中提供最佳护理，包括成人护理专家的关键作用。
