title: Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome.
abstract: The development of children who have syndromes with mental retardation and/or language delay can be worsened by sensorineural or conductive hearing loss (HL). Given the existing scarcity of data, we investigated the prevalence of otitis media with effusion and/or HL in 50 children with Cornelia de Lange syndrome (CdLS) aged 1-18 years, and its impact on the children's performance. The children underwent otological and audiological examinations in order to ascertain the relative frequencies of otitis media with effusion and/or hearing impairment; their demographic and clinical data were obtained by questionnaires and from information in their medical charts. Otitis media with effusion was diagnosed in 94%, and its prevalence was similar in all age groups; HL was detected in 40 children (80%). Conductive HL due to middle ear effusion was the main cause of hearing impairment alone (60%) or in combination with sensorineural deficit (20%). HL had a negative impact on performance regardless of the type. A history of routine audiological and/or otological assessments was reported by a minority of parents. Our findings indicate that otitis media with effusion and/or HL is an important feature of children with CdLS and may negatively affect their performance. Careful follow-up throughout childhood is necessary to detect and treat any hearing loss in children with CdLS in order to minimize its impact on performance.
authors.affiliation: Institute of Pediatrics, University of Milan, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Marchisio
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pignataro
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
authors.forename: Elena
authors.initials: E
authors.lastname: Baggi
authors.forename: Lara
authors.initials: L
authors.lastname: Lambertini
authors.forename: Elisa
authors.initials: E
authors.lastname: Dusi
authors.forename: Laura
authors.initials: L
authors.lastname: Villa
authors.forename: Pasquale
authors.initials: P
authors.lastname: Capaccio
authors.forename: Marta
authors.initials: M
authors.lastname: Cerutti
authors.forename: Susanna
authors.initials: S
authors.lastname: Esposito
authors.forename: Nicola
authors.initials: N
authors.lastname: Principi
mesh_terms: D000293:Adolescent; D002648:Child; D002657:Child Development / Q000502:physiology; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D003635:De Lange Syndrome / Q000150:complications* / Q000453:epidemiology* / Q000503:physiopathology; D005260:Female; D034381:Hearing Loss / Q000150:complications* / Q000453:epidemiology* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007558:Italy / Q000453:epidemiology; D008297:Male; D010034:Otitis Media with Effusion / Q000150:complications* / Q000453:epidemiology* / Q000503:physiopathology; D011597:Psychomotor Performance / Q000502:physiology