title: Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome.
abstract: Beckwith-Wiedemann syndrome (BWS) is a rare paediatric overgrowth disorder. Associated macroglossia is a feature of many children with BWS and is felt to be a risk factor for obstructive sleep apnoea (OSA). Sleep-disordered breathing is highly variable in this population. The relationship between degree of macroglossia or other genotypic or phenotypic factors and OSA severity has not been established. The natural history of OSA in this population is unknown; a variety of conservative and surgical therapies have been used to treat OSA in children with BWS but none have been studied systematically. Tongue reduction is the mainstay of surgical therapy for macroglossia associated with BWS, but limited data are available regarding its efficacy in treating OSA or its effect on speech and swallowing. More research is needed to better identify which children with BWS are at risk for OSA and the most effective treatment for these patients.
authors.affiliation: Division of Pulmonary Medicine, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, 3401 Civic Center Boulevard, Philadelphia, PA, 19104, USA. Electronic address: cieloc@email.chop.edu.
authors.forename: Christopher M
authors.initials: CM
authors.lastname: Cielo
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard Philadelphia, PA 19104, USA. Electronic address: duffyka@email.chop.edu.
authors.forename: Kelly A
authors.initials: KA
authors.lastname: Duffy
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard Philadelphia, PA 19104, USA. Electronic address: vyasa1@email.chop.edu.
authors.forename: Aesha
authors.initials: A
authors.lastname: Vyas
authors.affiliation: Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard Philadelphia, PA 19104, USA; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, 3401 Civic Center Boulevard Philadelphia, PA 19104, USA. Electronic address: taylorj5@email.chop.edu.
authors.forename: Jesse A
authors.initials: JA
authors.lastname: Taylor
authors.affiliation: Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, 3401 Civic Center Boulevard, Philadelphia, PA, 19104, USA; Division of Human Genetics, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard Philadelphia, PA 19104, USA. Electronic address: kalishj@email.chop.edu.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Kalish
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000150:complications*; D002648:Child; D019468:Disease Management; D005927:Glossectomy / Q000009:adverse effects* / Q000379:methods; D006801:Humans; D008260:Macroglossia / Q000209:etiology / Q000601:surgery*; D018570:Risk Assessment; D012307:Risk Factors; D020181:Sleep Apnea, Obstructive / Q000453:epidemiology / Q000209:etiology / Q000628:therapy
keywords: Sleep apnea; child; infant; macroglossia; obstructive; syndrome