From the Guidelines
Rubinstein-Taybi syndrome patients should not undergo routine cancer surveillance, but rather have an increased awareness and low threshold for investigating new potential tumor-related symptoms, as the likelihood of cancer is unknown but considered low. According to the study published in Clinical Cancer Research in 2017 1, individuals with Rubinstein-Taybi syndrome are at an increased risk of developing certain tumors, including hepatoblastoma, neuroblastoma, rhabdomyosarcoma, CNS tumors, and carcinomas. However, the study recommends no routine surveillance for these patients, instead suggesting an increased awareness and low threshold for investigating new potential tumor-related symptoms. Some key points to consider in the management of Rubinstein-Taybi syndrome include:
- Developmental interventions, such as physical therapy, speech therapy, and occupational therapy, to address developmental delays
- Medical care to treat associated conditions, such as heart defects, kidney abnormalities, and respiratory issues
- Genetic counseling for families with a history of the condition
- Awareness of the potential for increased cancer risk, although the likelihood is unknown but considered low It is essential to prioritize the quality of life and morbidity of patients with Rubinstein-Taybi syndrome, and management should focus on addressing their unique needs and associated conditions. Regular monitoring and a low threshold for investigating new symptoms can help identify potential issues early on, improving outcomes and quality of life for these patients, as suggested by the study 1.
From the Research
Definition and Characteristics of Rubenstein Syndrome
- Rubinstein-Taybi syndrome (RTS) is a genetic syndrome characterized by intellectual disability, well-defined facial features, distal limb anomalies, and atypical growth 2.
- It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation 2.
- The syndrome is also associated with broad toes, broad thumbs, facial dysmorphisms, and mental retardation 3.
Clinical Features and Diagnosis
- RTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation 4.
- The clinical features of RTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome 4.
- Genetic tests are useful for the diagnosis of RTS, although most RTS cases are currently diagnosed based on clinical features 4.
- A diagnostic decision algorithm and major issues that should be considered in the management of patients are discussed in the literature 5.
Management and Care
- Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population, and recommendations for specific surveillance and interventions are made to guide clinicians caring for individuals with RTS 6.
- Aggressive investigation and management in patients with RTS may further determine the mechanism of the immune deficiency and enhance the quality of life of these patients 3.
- Long-term management of various particular physical and behavioural issues and care planning are outlined in the literature 2.
- Healthcare for RTS patients is particularly complex, time-consuming, and costly, and no standard diagnostic criteria and follow-up care guidelines are available for RTS 4.
Research and Future Studies
- On-going research is needed in many areas to guide decisions in medical care and allow for refinement of medical guidelines for RTS 6.
- Multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RTS 4.
- Suggestions for further research are given in the literature to improve the understanding and management of RTS 5.