Standardized Classification of Infants With Robin Sequence Using MicroNAPS: The Impact of Syndromes and Comorbidities
Year: 2025
Type: article
Abstract: Background: MicroNAPS, a classification for infants with Robin sequence (RS) intended to guide treatment decisions, consists of 5 elements: micrognathia, nutrition, airway, palatal clefting, and syndromes/comorbidities. Scoring of the first 4 elements is well defined, but the assignment of the syndromes/comorbidities score (S score) introduces subjectivity by necessitating judgment regarding the clinical impact of the diagnosis. A database of comorbid diagnoses associated with RS and consensus-based S scores for each is needed for the MicroNAPS system to be reproducible. Methods: Diagnoses known to be associated with RS were identified from existing literature, and preliminary severity grades were applied. A series of electronic surveys were distributed to RS experts seeking agreement or recommendation and explanation for updated scoring, according to the Delphi technique, until at least 75% consensus was achieved for each item. A previously published series of 100 infants was rescored according to the resulting grades, and changes from initial scoring were assessed. Results: A total of 170 associated syndromes and comorbidities were identified. Complete responses were received from 20 of the 35 experts (57.1%) surveyed. Consensus on S scores was achieved for all but 3 diagnoses (98.2%) after 4 rounds of surveys. Rescoring of the published series found 25 (25%) changes in S scores resulting in 5 modifications to R stages. Conclusions: We have compiled a comprehensive list of syndromes and comorbid diagnoses associated with RS and achieved expert consensus regarding the impact on early treatment decision-making for most. This list, assigned S scores, and a complete MicroNAPS calculator are publicly available at www.prscalculator.com.
Authors: Cory M. Resnick, Jody E. Heffernan, Snigdha Jindal, Zaara Mehra, Irfan Ahmad, Bimal Chaudhari, Christopher Cielo, Nicole Deptula, Zarmina Ehsan, Kelly N. Evans, Semsa Gogcu, Scott E. Hickey, Jeffrey S. Marschall, Maithilee Menezes, David Molter, Michael A. Padula, Stacey L. Peterson-Carmichael, Stephen Alex Rottgers, Christopher M. Runyan, Jordan W. Swanson, Tara L. Wenger, Andrew Deek
Institutions: Boston Children's Hospital, Children's Hospital of Orange County, Nationwide Children's Hospital, Children's Hospital of Philadelphia, Washington University in St. Louis, Children's Mercy Hospital, University of Washington, Brown University, University of Iowa, University of Iowa Hospitals and Clinics, University of Iowa Health Care, Wake Forest University Health Sciences, Wake Forest University, Johns Hopkins University, Johns Hopkins All Children's Hospital, Atrium Health Wake Forest Baptist
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,195
OpenAlex ID: W4410038778