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Rubinstein-Taybi syndrome (RSTS) is a rare congenital disease, characterized by the cardinal features of developmental and intellectual disability, broad and frequently angulated thumbs and halluces, and a characteristic facial dysmorphism. Children with RSTS demonstrate a variety of behavioral difficulties, which is consistently reported as one of the primary factors related to quality of life. Reported challenging behaviors include attention problems, hyperactivity, self-injury, repetitive behaviors, and aggression often related to psychiatric problems and these behaviors appear to change with age. Despite this, behavior has been explored through only a handful of studies and no clear conclusion has been drawn regarding the full natural history and mechanism of behavioral changes seen in individuals with RSTS as they age. This study adds to the knowledge about disorder-relevant behavior across the lifespan and between sex through a survey sent to 38 caregivers of individuals with RSTS between the ages of one and sixty-one years old. Four caregiver report questionnaires measuring different aspects of behavior including adaptive living skills, disruptive behaviors, OCD-like symptoms, and anxiety were used to investigate disorder-relevant behavior across age and between sex.Results revealed an increase in certain behaviors over time in females with RSTS, but not in males with RSTS. Our findings may guide behavior management for individuals with RSTS throughout the lifespan and provide families with more proactive information on what to expect as their child with RSTS grows into adulthood.

Introduction: Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder, with an incidence of roughly 1 / 100,000 - 1 / 125,000 live births. The majority of adults with RTS live at home with their parents, making caring for individuals with RTS a lifelong role. There are several difficulties for caregivers of individuals with rare disorders. Family-centered care (FCC) is a healthcare delivery approach that aims to create an equal partnership between caregivers and providers. FCC has been shown to improve parental wellbeing, their knowledge of the condition and care, and improve their feelings of self-efficacy and personal control. Methods: Primary family caregivers of individuals with RTS took an online mixed-method survey that contained three primary components including a demographic survey, the Measures of Processes of Care -20 (MPOC-20), a measure of the FCC an individual feels they receive, and a qualitative assessment of negative and positive interactions with medical professionals and priority areas for improvement. Results: Sixty-three caregivers of individuals with RTS completed the survey. The median total score on the MPOC-20 was 4.5, lower than that seen in studies of parents caring for children with pediatric cancer or autism spectrum disorders. All aspects of FCC were ranked as important by caregivers. In the qualitative responses, parents noted that experiences with medical professionals would be improved if healthcare providers actively provided FCC, collaborated with parents and other providers, reviewed records before the visit, respected caregivers’ time and expertise, gave a more balanced description of the condition, showed greater respect towards their loved ones and included them in the conversation, and made an effort to learn about RTS. Discussion: The changes that parents would like to see in their care were not specific to one discipline, and the changes parents would like to see could be implemented by all healthcare specialists. While caregivers report that they receive moderate levels of FCC, they indicated that there were still areas of FCC that could be improved and that they would like to see enacted by all providers who see them and their loved ones. Conclusion: Our results show that most parent caregivers of children with RTS desire improvements in multiple aspects of FCC.