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Rubinstein-Taybi Syndrome: Presentation in the First Month of Life
Candice Levetan1, Julien Van Gils2, Alicia Saba3
1Department of Paediatrics, University of Cape Town, Cape Town, South Africa.
The Journal of Pediatrics
|July 8, 2022
Insights
Most infants with Rubinstein-Taybi syndrome (RTS) show early signs during the neonatal period, often within 24 hours of birth. This genetic disorder frequently requires extended hospital stays for affected newborns.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and broad thumbs and toes.
- Early identification and understanding of RTS presentation are crucial for timely intervention and management.
- Previous data on the initial clinical manifestations and diagnostic timelines of RTS is limited.
Observation:
- A global web-based survey collected data from 311 respondents across 25 countries regarding the early signs of RTS.
- The survey focused on the presentation of infants during the neonatal period and subsequent healthcare needs.
- Data analysis aimed to identify patterns in the early diagnosis and initial management of RTS.
Findings:
- The vast majority of infants (86%) with RTS present during the neonatal period.
- A significant proportion of these infants (69%) are identified within the first 24 hours of life.
- Prolonged hospital stays are a common occurrence for infants diagnosed with RTS, affecting 61% of cases.
Implications:
- These findings highlight the critical importance of recognizing early clinical indicators of RTS in newborns.
- The high percentage of neonatal presentation suggests potential for earlier diagnosis and intervention strategies.
- The prevalence of prolonged hospital stays underscores the significant healthcare burden associated with RTS, necessitating comprehensive support systems.
Abstract:
This web-based survey of 311 respondents from 25 countries provides additional information about the early presentation of Rubinstein-Taybi syndrome. Most (86%) infants present during the neonatal period, with 69% of these within 24 hours of life. Prolonged hospital stay is common (61%).
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