Management and outcomes of obstructive sleep apnea in children with Robin sequence, a cross-sectional study

Lieshout, Manouk J.S. van; Joosten, Koen; Schroeff, Marc P. van der; Dulfer, Karolijn; Mathijssen, Irene M.J.; Wolvius, Eppo B.

doi:10.1007/s00784-016-1985-y

Cited by 16 publications

(14 citation statements)

References 28 publications

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“…This is in line with Van Lieshout et al, who reported that, between the age of 1 and 18 years, almost one out of four RS infants continues to have respiratory problems. Additionally, RS infants who need respiratory support early after birth are at risk of continuing or re-developing obstructive sleep apnea after the age of 1 year [ 34 ]. In our study, we could relate the cause of respiratory insufficiency to upper airway obstruction in only two infants (VII and IX).…”

Section: Discussionmentioning

confidence: 99%

Mortality in Robin sequence: identification of risk factors

et al. 2018

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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.

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Section: Discussionmentioning

confidence: 99%

Mortality in Robin sequence: identification of risk factors

et al. 2018

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“…Children with PRS, who needed respiratory support early after birth, were at risk of continuing or re-developing OSA after the age of 1 year. Between the age of 1 and 18 years, almost one out of four children with PRS had respiratory problems (83). International guidelines recommended the surgical management of children with PRS who failed conservative therapy (65).…”

Section: Pierre-robin Sequence/syndromementioning

confidence: 99%

“…PRS infants often require early and longterm upper airway management (65). Those who needed respiratory support at an early age looked for careful monitoring until adulthood (83).…”

Section: Pierre-robin Sequence/syndromementioning

confidence: 99%

Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders

Zaffanello¹,

Antoniazzi²,

Tenero³

et al. 2018

Ann. Transl. Med.

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Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently clear. OSAS is widely described in rare genetic disorders, such as achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, and mucopolysaccharidosis. Craniofacial and upper airway involvement is frequently morbid conditions. In children with genetic diseases, the clinical symptoms of OSAS are often slight or absent, and related morbidities are usually more severe and can be observed at any age. The present review is aimed to updating the discoveries regarding OSAS on Achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, Sickle cell disease, or encountered in our clinical practice (Ehlers-Danlos syndrome, Ellis-van Creveld syndrome, Noonan syndrome). Two additional groups of genetic disorders will be focused (mucopolysaccharidoses and osteogenesis imperfecta). The flowing items are covered for each disease: (I) what is the pathophysiology of OSAS? (II) What is the incidence/prevalence of OSAS? (III) What result from the management and prognosis? (IV) What are the recommendations? Considering the worries of OSAS, such as inattention and behavioural problems, daytime sleepiness, failure to thrive, cardiological and metabolic complications, the benefit of a widespread screening and the treatment in children with genetic diseases is undoubtful. The goals of the further efforts can be the inclusion of various genetic diseases into guidelines for the screening of OSAS, updating the shreds of evidence based on the research progression.

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“… 39 Another study found that of the 7 isolated RS-patients that underwent a superiorly based pharyngeal flap for VPI, 6 developed OSA and subsequently required flap take-down. 40 Apart from the effect of secondary speech operations on the RS airway, our follow-up data on OSA, together those from another study, 41 indicate the importance of continued monitoring of at-risk RS-patients beyond infancy.…”

Section: Discussionmentioning

confidence: 53%