Assessment of obstructive apnea by using polysomnography and surgical treatment in patients with Beckwith-Wiedemann syndrome

Kamata, Shinkichi; Kamiyama, Masafumi; Sawai, Terumitsu; Nose, Keisuke; Usui, Noriaki; Kawahara, Hiroyuki; Fukuzawa, Masahiro

doi:10.1016/j.jpedsurg.2004.11.011

Cited by 20 publications

(13 citation statements)

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“…Although young children with achondroplasia have an increased frequency of obstructive and central apnoeas, the size of the foramen magnum is not related to the AHI, central apnoea index or desaturation index [58,112]. b) Severe OSAS resolved in two infants with Beckwith-Wiedemann syndrome after division of the frenulum linguae with central tongue resection or anterior glossopexy [59]. c) Central sleep apnoea and OSAS in young patients with Chiari malformation may indicate brainstem crowding at the foramen magnum and need for decompressive surgery [60].…”

Section: Literature Reviewmentioning

confidence: 92%

“…g) Infants with achondroplasia have higher AHI than control infants and midface hypoplasia contributes to obstructive events [58]. OSAS has been described in infants with Beckwith-Wiedemann syndrome [59]. Chiari malformation is accompanied by obstructive and central sleep apnoeas and hypoventilation, risk factors being the degree of brainstem crowding at the foramen magnum and/or length of herniation [60,61].…”

Section: Literature Reviewmentioning

confidence: 99%

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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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Section: Literature Reviewmentioning

confidence: 92%

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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“…Surprisingly, most reports of tongue reduction surgery in children with BWS include limited information about its effect on sleep-disordered breathing. 11,12 It is troubling that there has been a case report related to a death in an infant with BWS with respiratory difficulty, even though that death was not attributed to OSA. 13 Although sudden death is not a common complication of untreated OSA in children, it has been reported in children with Prader-Willi syndrome-initiating growth hormone [24][25][26] and in infants with Pierre Robin sequence and nasal obstruction.…”

Section: Discussionmentioning

confidence: 99%

“…[7][8][9] There are multiple small case series describing severe OSA in infants and children with BWS. [10][11][12] A single case report describes the sudden death of a 2-month-old infant with BWS and macroglossia who had a history of prematurity and had required positive pressure ventilation and supplemental oxygen. 13 Follmar and colleagues reported a 30-year retrospective study of OSA in 118 patients with BWS and estimated the prevalence of sleep-disordered breathing to be 48%.…”

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confidence: 99%

Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome

Cielo

Duffy

Taylor

et al. 2019

Journal of Clinical Sleep Medicine

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Study Objectives:Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth disorder that includes a spectrum of clinical findings including macroglossia, especially in those with loss of methylation at the imprinting control region (IC2 LOM) on chromosome 11. Children with BWS can have very severe obstructive sleep apnea (OSA), but the prevalence of OSA in this population is poorly understood, as is the relationship between OSA and the BWS genotype/phenotype. We hypothesized that there would be a high prevalence of OSA in children with BWS, and that OSA would be more severe in children with IC2 LOM. Methods: Medical records from children evaluated from March 2015 through January 2018 were reviewed for results from polysomnography, genetic testing, and clinical assessment. Results: A total of 26 children with BWS not previously treated for OSA underwent polysomnography, genetic testing, and clinical assessment. Median (range) age was 5 months (3 days to 33 months). Most children, 20 (76.9%), had an obstructive apnea-hypopnea index (OAHI) > 2 events/h. Median (range) OAHI was 4.4 events/h (0 to 56.1 events/h). OAHI was significantly greater in participants younger than 6 months compared with those older than 6 months (P = .008). Those with IC2 LOM did not have a greater OAHI (P = .61) than those with other genetic causes of BWS, but OAHI had a strong positive correlation with BWS clinical score (Spearman rho = .54, P = .004). Conclusions: There is a high prevalence of OSA in children with BWS with macroglossia. Younger children with BWS and those with more phenotypic features may be at greatest risk of OSA.

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“…In addition to macroglossia, cleft palate and facial hemihyperplasia are also associated with this syndrome and may predispose patients to upper airway obstruction in sleep [Hoyme et al, 1998; Laroche et al, 2005]. Despite the various craniofacial abnormalities associated with Beckwith–Wiedemann syndrome, only three patients have been reported to show sleep pathology [Mixter et al, 1993; Kamata et al, 2005]. These three patients were found to have moderate to severe obstructive sleep apnea.…”

Section: Introductionmentioning

confidence: 99%

Sleep‐disordered breathing in Beckwith–Wiedemann syndrome: Three patients

Kansagra

D’Cruz

Noah

et al. 2012

American J of Med Genetics Pt A

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Beckwith-Wiedemann syndrome is associated with craniofacial abnormalities that may predispose patients to sleep-related breathing disorders. There is limited literature on the polysomnography findings for children with this syndrome. Three patients with Beckwith-Wiedemann syndrome underwent polysomnography in our sleep lab and were found to have a variety of sleep-disordered breathing that ranged from obstructive apnea to isolated REM sleep-related hypoxemia-hypoventilation without obstructive apnea. Suspicion for sleep-disordered breathing should be high in children with Beckwith-Wiedemann syndrome.

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Assessment of obstructive apnea by using polysomnography and surgical treatment in patients with Beckwith-Wiedemann syndrome

Cited by 20 publications

References 10 publications

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

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

Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome

Sleep‐disordered breathing in Beckwith–Wiedemann syndrome: Three patients

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