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Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report
Corstiaan C Breugem1, Kelly N Evans2, Christian F Poets3
1Department of Pediatric Plastic Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands.
Insights
Robin sequence (RS) diagnosis lacks consensus. This report provides best practices for evaluating infants with RS, aiming to standardize care for micrognathia, glossoptosis, and airway obstruction.
Area of Science:
- Pediatric Medicine
- Genetics
- Otolaryngology
Background:
- Robin sequence (RS) is a congenital condition involving micrognathia, glossoptosis, and airway obstruction.
- Current diagnostic and evaluation standards for infants with RS are inconsistent.
- An international multidisciplinary group convened to address this diagnostic gap.
Purpose of the Study:
- To establish consensus-derived best practices for diagnosing and evaluating infants with Robin sequence.
- To provide a foundational framework for standardizing management protocols for RS.
- To improve clinical decision-making in the care of infants with RS.
Main Methods:
- A literature review was conducted to synthesize existing evidence.
- Expert opinions from a multidisciplinary consensus group were gathered.
- A clinical consensus report was generated based on the review and expert input.
Main Results:
- Robin sequence diagnosis can be complex due to variability in presentation and subjective assessment of micrognathia.
- Key features include micrognathia, glossoptosis, and potential for multilevel upper airway obstruction, often exacerbated during sleep.
- Feeding difficulties, particularly with cleft palate, are common and influence management.
- Initial assessment of respiratory distress and consideration of sleep studies are crucial.
Conclusions:
- This consensus report offers agreed-upon recommendations for the initial evaluation and clinical descriptors for RS.
- Uniform definitions and standardized assessments are encouraged for researchers and clinicians.
- Further prospective studies and validated assessments are necessary to build an evidence base for RS care standards.
Importance:
Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction. Currently, no consensus exists regarding the diagnosis and evaluation of children with RS. An international, multidisciplinary consensus group was formed to begin to overcome this limitation.
Objective:
To report a consensus-derived set of best practices for the diagnosis and evaluation of infants with RS as a starting point for defining standards and management.
Evidence Review:
Based on a literature review and expert opinion, a clinical consensus report was generated.
Findings:
Because RS can occur as an isolated condition or as part of a syndrome or multiple-anomaly disorder, the diagnostic process for each newborn may differ. Micrognathia is hypothesized as the initiating event, but the diagnosis of micrognathia is subjective. Glossoptosis and upper airway compromise complete the primary characteristics of RS. It can be difficult to judge the severity of tongue base airway obstruction, and the possibility of multilevel obstruction exists. The initial assessment of the clinical features and severity of respiratory distress is important and has practical implications. Signs of upper airway obstruction can be intermittent and are more likely to be present when the infant is asleep. Therefore, sleep studies are recommended. Feeding problems are common and may be exacerbated by the presence of a cleft palate. The clinical features and their severity can vary widely and ultimately dictate the required investigations and treatments.
Conclusions And Relevance:
Agreed-on recommendations for the initial evaluation of RS and clinical descriptors are provided in this consensus report. Researchers and clinicians will ideally use uniform definitions and comparable assessments. Prospective studies and the standard application of validated assessments are needed to build an evidence base guiding standards of care for infants and children with RS.
