Sunday, 30 March 2025

PIERRE ROBIN

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Here’s a summary table for the paper:


Summary Table: Towards Reaching Consensus in the Diagnosis and Management of Infants With Robin Sequence

Category Details
Authors Christian F. Poets, Mirja Quante, Cornelia Wiechers
Publication Date 25 March 2025
DOI 10.1111/apa.70072
Funding Supported by the European Reference Network on Craniofacial Malformations
Background - Randomized controlled trials (RCTs) are challenging in rare diseases like Pierre Robin Sequence (RS). - Some treatments, such as prone positioning, lack strong evidence despite being widely used.
Challenges in RS Management - Prone positioning can improve symptoms but does not eliminate moderate-to-severe obstructive sleep apnea syndrome (OSAS). - Potential safety concerns, including association with sudden infant death syndrome (SIDS). - Lack of consensus on optimal treatment and diagnostic approaches.
Goel et al.’s Approach - Conducted a three-tiered consensus-building process: reviewing evidence, consulting experts, and incorporating parental perspectives. - Addressed both diagnostic methods and treatment strategies.
Diagnostic Concerns - Disagreement over the accuracy of cardiorespiratory polygraphy (PG) vs. full polysomnography (PSG) for assessing apnea-hypopnea index (AHI). - Questioned the necessity of PSG for all RS infants due to cost, stress, and wait times.
Treatment Considerations - Debate over effects of continuous positive airway pressure (CPAP) and high-flow nasal cannula (HFNC) on facial growth. - Importance of treatments that support proper neuromuscular function and mandibular development. - Tübingen Palatal Plate (TPP) therapy linked to better oral feeding and mandibular catch-up growth.
Need for Data-Driven Consensus - Lack of comparative trials between treatment approaches. - Existing randomized trials are limited in scale and duration. - Standardized outcome measures would improve treatment evaluation.
Conclusion - More prospective data collection and expert consensus on outcome parameters are necessary for evidence-based RS management.

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