Mortality in Robin sequence: identification of risk factors

Abstract

Although Robin sequence (RS) is a well-known phenomenon, it is still associated with considerable morbidity and even mortality. The purposes of this study were to gain greater insight into the mortality rate and identify risk factors associated with mortality in RS. We retrospectively reviewed all RS infants followed at the Wilhelmina Children’s Hospital from 1995 to 2016. Outcome measurements were death and causes of death. The authors identified 103 consecutive RS infants with a median follow-up of 8.6 years (range 0.1–21.9 years). Ten of the 103 infants (10%) died at a median age of 0.8 years (range 0.1–5.9 years). Nine of these ten infants (90%) were diagnosed with an associated syndrome. Of these, seven infants died of respiratory insufficiency due to various causes (two related to upper airway obstruction). The other two syndromic RS infants died of arrhythmia due to hypernatremia and of West syndrome with status epilepticus. One isolated RS infant died of brain ischemia after MDO surgery. Cardiac anomalies were observed in 41% and neurological anomalies in 36%. The presence of a neurological anomaly was associated with a mortality rate of 40% versus 7% in infants with no neurological anomaly (p = 0.016), with an odds ratio of 8.3 (95% CI 1.4–49.0) for neurological anomaly versus no neurological anomaly. Mortality was 15% in infants with syndromic RS versus 2% in infants with isolated RS (p = 0.044). Mortality was not significantly associated with the presence of a cardiac anomaly, surgical treatment for severe respiratory distress in the neonatal period, or prematurity.Conclusion: RS represents a heterogeneous patient population and is associated with a high level of underlying syndromes. The present study reports a mortality rate of 10% significantly associated with syndromic RS and the presence of neurological anomalies. A multidisciplinary approach in all infants born with RS, including genetic testing and examination of neurological anomalies in a standardized way, is crucial to identify infants with underlying syndromes potentially associated with increased mortality. What is Known: • Reported mortality rates in Robin sequence vary from 2% to 26%.• Clinicians mainly focus on the morbidity of Robin sequence that includes respiratory complications due to upper airway obstruction in the period after birth.• Robin sequence represents a heterogeneous patient population and is associated with a high level of underlying syndromes. What is New: • The present study reports a mortality rate of 10% significantly associated with syndromic Robin sequence and the presence of neurological anomalies.• A multidisciplinary approach in all infants born with Robin sequence, including genetic evaluation and standardized workup for neurological anomalies, is crucial to identify infants with underlying syndromes potentially associated with increased mortality.

Pierre Robin Sequence: Diagnostic Difficulties Faced while Differentiating Isolated and Syndromic Forms

“…Prone positioning, placing a nasopharyngeal airway, providing continuous positive airway pressure, and using a laryngeal mask airway are the common noninvasive techniques used to relieve the airway obstruction (1-3). Supplemental feeding using a nasogastric/orogastric tube (mild cases) and gastronomy tube (chronic and persistent cases) helps resolving feeding difficulties (1,13). Almost 70% of PRS cases respond to conservative management, as our patient's did (4).…”

“…Many believe that delineating syndromic PRS from isolated PRS is crucial as it influences the choice and outcome/ efficacy of the management strategy (4). Clinicians mainly focus on the management of the morbidities caused due to PRS (1,2). The severity of the airway obstruction even in non-syndromic PRS cases requires the use of fiberoptic investigations for exclusion of congenital abnormalities as well as for local description of the degree of obstruction (16).…”

“…Pierre Robin sequence (PRS) is the triad of retrognathia, glossoptosis, and airway obstruction. Cleft palate is frequently encountered, but is not considered as a prerequisite for the diagnosis (1). Epidemiological data are sparse, though available evidence suggests the incidence of PRS ranges from 1 in 5600 to 1 in 14000 live births (1,2).…”

“…PRS occurs in isolation or as a part of other syndromes such as Stickler, velocardiofacial, and Treacher-Collins syndromes (3). Because the severity of symptoms, presence of long-term sequalae, requirement of surgery, and mortality rate in syndromic PRS are much higher than non-syndromic/isolated PRS, early differentiation between the two is beneficial to clinicians as it increases their preparedness and helps them take decisions regarding the management plan (1,4,5). However, the phenotypic heterogenicity of the various associated syndromes, make it very hard for clinicians to distinguish between the two (3).…”

Severity of Retrognathia and Glossoptosis Does Not Predict Respiratory and Feeding Disorders in Pierre Robin Sequence

“…PRS can be isolated or syndromic, depending on associated signs and genetic assessment ( 3 – 6 ). Although mortality rate for children with PRS has significantly decreased, it remains substantial, up to 16.6% according to latest reports ( 7 , 8 ).…”