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The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

Abstract

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.

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Fig. 1: Adult RTS reported everyday life.
Fig. 2: Summary of adult RTS morbidity by body system.
Fig. 3: Pattern of RTS behavioural or psychiatric problems.
Fig. 4: Medical follow-up and surgery details.

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All data generated or analysed during this study are included in this published article.

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Acknowledgements

We thank all the RTS individuals and their families for their time and dedication in providing us with this invaluable information. This work has been generated within the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA) [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/79516].

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All authors acquired data and approved the final version of the manuscript. SH and SGM played an important role in interpreting the results. SD and RCMH conceived and designed the work that led to the submission, drafted and revised the manuscript.

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Correspondence to Sofia Douzgou.

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The authors declare no competing interests.

Ethical approval

This investigation was performed in accordance with the Declaration of Helsinki. Reported information was provided voluntarily by all participants filing in the questionnaire.

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Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

SD, SH, KV, DL, and RCMH are members of ERN-ITHACA.

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Douzgou, S., Dell’Oro, J., Fonseca, C.R. et al. The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience. Eur J Hum Genet 30, 841–847 (2022). https://doi.org/10.1038/s41431-022-01097-8

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