TY - JOUR
T1 - Best practices for the diagnosis and evaluation of infantswith robin sequence a clinical consensus report
AU - Breugem, Corstiaan C.
AU - Evans, Kelly N.
AU - Poets, Christian F.
AU - Suri, Sunjay
AU - Picard, Arnaud
AU - Filip, Charles
AU - Paes, Emma C.
AU - Mehendale, Felicity V.
AU - Saal, Howard M.
AU - Basart, Hanneke
AU - Murthy, Jyotsna
AU - Joosten, Koen F.M.
AU - Speleman, Lucienne
AU - Collares, Marcus V.M.
AU - Van Den Boogaard, Marie Jos H.
AU - Muradin, Marvick
AU - Andersson, Maud Els Marie
AU - Kogo, Mikihiko
AU - Farlie, Peter G.
AU - Griot, Peter Don
AU - Mossey, Peter A.
AU - Slator, Rona
AU - Abadie, Veronique
AU - Hong, Paul
N1 - Publisher Copyright:
Copyright 2016 American Medical Association. All rights reserved.
PY - 2016/9/1
Y1 - 2016/9/1
N2 - 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.
AB - 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.
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U2 - 10.1001/jamapediatrics.2016.0796
DO - 10.1001/jamapediatrics.2016.0796
M3 - Article
C2 - 27429161
AN - SCOPUS:84999006702
SN - 2168-6203
VL - 170
SP - 894
EP - 902
JO - JAMA Pediatrics
JF - JAMA Pediatrics
IS - 9
ER -