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.

Cornelia de lange manifestations in otolaryngology: A systematic review and meta‐analysis

“…Acute otitis media was the most prevalent infectious manifestation affecting 56.4% (95% CI: 34.1–78.4) of patients (Fig. ) . Recurrent respiratory infections, including pneumonitis and bronchitis, were also prevalent and present in 44.1% (95% CI: 11.0–87.1) of patients (Appendix 2).…”

Further refinement of the nature of the communication impairment in Cornelia de Lange syndrome

“…This discrepancy might be related to hearing difficulties (Kiernan & Reid, 1987) which are known to be problematic in CdLS (Goodban, 1993;Marchisio et al, 2008).…”

“…As hearing impairments are often unrecognized in CdLS (Marchisio et al, 2008), gaining information about hearing abilities is an important aspect to consider in order to ensure performance on any task is not misinterpreted or disadvantaged due to hearing difficulties.…”

Cornelia De Lange, Cri Du Chat, and Rubinstein-Taybi Syndromes

“…Gastrooesophageal reflux and other gastrointestinal disorders are prominent (Luzanni et al, 2003; with reports of an association between reflux and behavioural disorder including self-injury (Luzanni et al, 2003;Moss, Oliver, Hall, Sloneem, Arron & Petty, 2005). Other health problems include heart and kidney malformations in approximately 40% (Selicorni, Sforzini, Milani, Cagnoli, Fossali & Bianchetti, 2005), dental problems, otitis media Kline et al, 2007b;Marchisio et al, 2008) and opthalmic and orthopaedic disorders (Levin et al, 1990;Nallasamy et al, 2006;Roposch et al, 2004;Wygnanski-Jaffe et al, 2005). Health problems are related to low mood (Berg et al, 2007) and warrant repeated assessment with aggressive intervention.…”

“…Sensorineural hearing loss is reported with loss of or compromised neural function evident in 20%, conductive hearing loss due to middle ear effusion is also reported in 60% of individuals. This hearing loss may contribute to the delayed onset of speech and is correlated with severity of intellectual disability (Marchisio et al, 2008). Slow peripheral nerve transmission speeds have been recorded (Oliver, Jephcott, Seri, Friess, Kline & Moss, 2007) and may be related to anecdotally reported high pain thresholds.…”