Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral centre

Rathé, M; Rayyan, Maissa; Schoenaers, Joseph; Dormaar, Jakob Titiaan; Breuls, Mieke; Verdonck, Anna; Devriendt, Koenraad; Poorten, Vincent Vander; Hens, Greet

doi:10.1016/j.ijporl.2015.05.012

Cited by 44 publications

(40 citation statements)

References 19 publications

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“…In our experience a severe swallowing disorder is a contraindication to TPP treatment. In addition, the TPP proved ineffective in 2 patients presenting with laryngeal problems, which may accompany syndromic RS, as also reported by others [13]. …”

Section: Discussionsupporting

confidence: 72%

“…The latter patients are more susceptible to severe and life threatening respiratory complications than their non-syndromic counterparts [13] and have poorer outcomes concerning growth and development in spite of early intervention and good control of airway and feeding problems compared to children with isolated RS [22, 23]. …”

Section: Discussionmentioning

confidence: 99%

“…In a recent study, 40% of RS cases were isolated and 60% syndromic [12]. Thus, failure to thrive in RS may also be caused by an underlying syndromic condition [13]. …”

Section: Introductionmentioning

confidence: 99%

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Treatment of infants with Syndromic Robin sequence with modified palatal plates: a minimally invasive treatment option

Müller-Hagedorn

Buchenau²,

Arand³

et al. 2017

Head Face Med

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BackgroundInfants with Robin sequence (RS) suffer from upper airway obstruction (UAO) and feeding problems. We developed an oral appliance with a velar extension in combination with functional treatment and appropriate feeding techniques, which was proven effective in isolated RS. As the above problems are particularly challenging in syndromic RS, we set out to evaluate our treatment concept also in these patients.MethodsWe searched our electronic departmental database to identify all children admitted to our department between 01/01/2003 and 31/12/2009 because of syndromic RS. UAO was quantified by cardiorespiratory sleep studies performed before and during treatment with a modified palatal plate. This appliance consists of a palatal part, covering the hard palate as well as the alveolar ridges and the potential cleft, and a velar extension shifting the tongue in a more anterior position, thereby opening the pharyngeal airway. It is adjusted by fiberoptic nasopharyngoscopy and controlled by cardiorespiratory sleep studies. Obstructive sleep apnea was defined as a mixed obstructive sleep apnea index (MOAI) >3/h. Feeding modalities before and after treatment and weight gain, determined as standard deviation score, were also evaluated.ResultsOf 68 children meeting inclusion criteria, 56 completed treatment (46 of these being infants). Underlying diagnoses included craniofacial dysostosis (N = 13) and synostosis syndromes (N = 5), unspecified dysmorphic syndromes (N = 23) and miscellaneous rare conditions (N = 27).Median MOAI decreased from 8.5 (range 0.3–76.0) at admission to 1.1 (0.0–5.2) at discharge (p < 0.001). 51 children received only a TPP and 5 additionally continuous positive airway pressure (CPAP) or high-flow nasal cannula during sleep for mild residual OSA. Three children ultimately required tracheostomy. The number of exclusively gavage fed infants was reduced from 23 to 7. Conversely, the number of children fed exclusively by mouth increased from 18 to 30. Median SDS for weight decreased from −1.6 (−3.5–1.7) to −1.3 (−4.1-2.5). Twelve children had their treatment prematurely discontinued, e.g. due to laryngeal collapse/laryngomalacia. No patient died during treatment.ConclusionTreatment of UAO and feeding problems in these children with syndromic RS by a modified palatal plate with a velar extension was shown to be effective and safe. If confirmed in prospective studies, it may help to avoid more invasive interventions.

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Section: Discussionsupporting

confidence: 72%

Section: Discussionmentioning

confidence: 99%

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Treatment of infants with Syndromic Robin sequence with modified palatal plates: a minimally invasive treatment option

Müller-Hagedorn

Buchenau²,

Arand³

et al. 2017

Head Face Med

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“…e) Non-syndromic or syndromic Pierre Robin sequence is the constellation of micrognathia, glossoptosis and upper airway obstruction with or without cleft palate, resulting in feeding difficulties, stridor, episodes of cyanosis and OSAS [47,48]. Severity of obstruction varies from mild to life-threatening requiring immediate intubation or tracheostomy (up to 13.4% of cases) [47,[49][50][51]. Coexisting unilateral choanal atresia, a small epiglottis allowing the tongue to obstruct the laryngeal opening, laryngomalacia or tracheal stenosis can worsen respiratory distress [52].…”

Section: Literature Reviewmentioning

confidence: 99%

“…Coexisting unilateral choanal atresia, a small epiglottis allowing the tongue to obstruct the laryngeal opening, laryngomalacia or tracheal stenosis can worsen respiratory distress [52]. Airway obstruction and feeding difficulties may improve with growth over the first year of life [47,49,53]. f ) Cerebral palsy and mitochondrial disorders may be accompanied by OSAS [54,55].…”

Section: Literature Reviewmentioning

confidence: 99%

ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children

et al. 2017

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The present statement was produced by a European Respiratory Society Task Force to summarise the evidence and current practice on the diagnosis and management of obstructive sleep disordered breathing (SDB) in children aged 1-23 months. A systematic literature search was completed and 159 articles were summarised to answer clinically relevant questions. SDB is suspected when symptoms or abnormalities related to upper airway obstruction are identified. Morbidity (pulmonary hypertension, growth delay, behavioural problems) and coexisting conditions (feeding difficulties, recurrent otitis media) may be present. SDB severity is measured objectively, preferably by polysomnography, or alternatively polygraphy or nocturnal oximetry. Children with apparent upper airway obstruction during wakefulness, those with abnormal sleep study in combination with SDB symptoms ( snoring) and/or conditions predisposing to SDB ( mandibular hypoplasia) as well as children with SDB and complex conditions ( Down syndrome, Prader-Willi syndrome) will benefit from treatment. Adenotonsillectomy and continuous positive airway pressure are the most frequently used treatment measures along with interventions targeting specific conditions ( supraglottoplasty for laryngomalacia or nasopharyngeal airway for mandibular hypoplasia). Hence, obstructive SDB in children aged 1-23 months is a multifactorial disorder that requires objective assessment and treatment of all underlying abnormalities that contribute to upper airway obstruction during sleep.

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Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey

Abell

Hopkin

Bender

et al. 2020

American J of Med Genetics Pt A

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Mandibulofacial dysostosis with microcephaly (MFDM) is due to haploinsufficiency of spliceosomal GTPase EFTUD2. Features include microcephaly, craniofacial dysmorphology, developmental disability, and other anomalies. We surveyed parents of individuals with MFDM to expand knowledge about health, development, and parental concerns. Participants included attendees of the inaugural MFDM family conference in June 2019 and members of the MFDM online group. To explore MFDM variable expressivity, we offered targeted Sanger sequencing for untested parents. Forty-seven parents participated in the survey. 59% of individuals with MFDM were male, with mean age 6.4 years (range 8 months to 49 years). Similar to the literature (n = 123), common features include microcephaly, cleft palate, choanal stenosis, tracheoesophageal fistula, heart problems, and seizures. New information includes airway intervention details, age-based developmental outcomes, rate of vision refractive errors, and lower incidences of prematurity and IUGR. Family concerns focused on development, communication, and increased support. Targeted Sanger sequencing for families of seven individuals demonstrated de novo variants, for a total of 91.9% de novo EFTUD2 variants (n = 34/37). This study reports the largest single cohort of individuals with MFDM, expands phenotypic spectrum and inheritance patterns, improves understanding of developmental outcomes and care needs, and identifies development as the biggest concern for parents.

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Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral centre

Cited by 44 publications

References 19 publications

Treatment of infants with Syndromic Robin sequence with modified palatal plates: a minimally invasive treatment option

Treatment of infants with Syndromic Robin sequence with modified palatal plates: a minimally invasive treatment option

ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey

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