Rubinstein-Taybi syndrome: a follow-up study

Area of Science:

• Medical Genetics
• Pediatric Endocrinology
• Clinical Genetics

Background:

• Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and broad thumbs/toes.
• Long-term outcomes and survival data for RTS patients are crucial for understanding the disease's natural history and guiding clinical management.
• Previous studies have focused on early childhood, with limited information available on adult RTS patients.

Purpose of the Study:

• To assess the long-term health status and survival of individuals diagnosed with Rubinstein-Taybi syndrome (RTS).
• To confirm the initial RTS diagnosis in a cohort of patients evaluated 18-23 years prior.
• To identify common medical problems and causes of mortality in RTS patients over time.

Main Methods:

• Retrospective tracing of 18 patients initially diagnosed with RTS 18-23 years ago.
• Personal follow-up assessments of surviving patients.
• Confirmation of RTS diagnosis based on clinical evaluation and review of medical history.

Main Results:

• The RTS diagnosis was confirmed in 11 of the 18 patients.
• Three confirmed RTS patients (all female) died from infections at ages 9, 37, and 52.
• The 8 surviving RTS patients were generally doing well but experienced various medical issues, including eye lesions, severe dental caries, gastroesophageal reflux, and keloid scarring.

Conclusions:

• Rubinstein-Taybi syndrome (RTS) patients can survive into adulthood, but infections pose a significant mortality risk, particularly for females.
• Adult RTS survivors frequently manage chronic medical conditions, emphasizing the need for comprehensive, long-term healthcare.
• Diagnostic confirmation challenges in some cases highlight the importance of rigorous diagnostic criteria and potential for overlapping phenotypes.