caa a22 4500 475786491 CHVBK 20180406123659.0 cr unu---uuuuu 170329e20000701xx s 000 0 eng 10.1007/s004319900409 doi (NATIONALLICENCE)springer-10.1007/s004319900409 Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development [Elektronische Daten] [Véronique Abadie, Sylvette Wiener-Vacher, Marie-Paule Morisseau-Durand, Claude Porée, Jeanne Amiel, Laurent Amanou, Catherine Peigné, Stanislas Lyonnet, Yves Manac'h] Recently, vestibular anomalies have been described as a frequent feature in children with coloboma-heart-atresia-retarded-genital-ear (CHARGE) syndrome. They are likely to play an important role in the psychomotor retardation affecting these children. In order to test this hypothesis, we prospectively performed complete vestibular investigations in a series of 17 CHARGE syndrome patients including inner ear CT scan and functional vestibular evaluation of both canal and otolith functions. These results were correlated with the postural anomalies observed during the children's development and showed that vestibular dysfunction is a constant feature in CHARGE syndrome and has very good sensitivity for confirming the diagnosis. Anomalies of semicircular canals were frequently found (94%), easily detectable on CT scan and associated with no response on canal function evaluation. They were considered as partly responsible for the retardation of postural stages. Vestibular functional tests were consistently abnormal but allowed detection of residual otolith function in most patients (94%). All children of this series had an atypical pattern of postural behaviour that we consider to be related to their vestibular anomalies. Residual otolith function seems to have a positive influence for postural development. Conclusion Vestibular investigations are valuable for diagnosis, developmental assessment, and adaptation of specific rehabilitation programmes in CHARGE syndrome patients. Springer-Verlag Berlin Heidelberg, 2000 Key words CHARGE syndrome nationallicence Inner ear nationallicence Vestibular function nationallicence Semicircular canals nationallicence Otolith nationallicence Abadie Véronique Department of Paediatrics, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75345 Paris cedex 15, France e-mail: veronique.abadie@nck.ap-hop-paris.fr; Tel.: +33-1-44495211; Fax: +33-1-47833226, FR aut Wiener-Vacher Sylvette Department of Otorhinolaryngology, Oto-Neuro-Vestibular Evaluation Unit, Hôpital Robert Debré, Paris, France, FR aut Morisseau-Durand Marie-Paule Otorhinolaryngology Unit, Hôpital Necker-Enfants Malades, Paris, France, FR aut Porée Claude Paediatric Radiology Unit, Hôpital Necker-Enfants Malades, Paris, France, FR aut Amiel Jeanne Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France, FR aut Amanou Laurent Otorhinolaryngology Unit, Hôpital Necker-Enfants Malades, Paris, France, FR aut Peigné Catherine Department of Paediatrics, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75345 Paris cedex 15, France e-mail: veronique.abadie@nck.ap-hop-paris.fr; Tel.: +33-1-44495211; Fax: +33-1-47833226, FR aut Lyonnet Stanislas Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France, FR aut Manac'h Yves Otorhinolaryngology Unit, Hôpital Necker-Enfants Malades, Paris, France, FR aut https://doi.org/10.1007/s004319900409 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004319900409 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Abadie Véronique Department of Paediatrics, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75345 Paris cedex 15, France e-mail: veronique.abadie@nck.ap-hop-paris.fr; Tel.: +33-1-44495211; Fax: +33-1-47833226, FR aut NATIONALLICENCE 700 1- Wiener-Vacher Sylvette Department of Otorhinolaryngology, Oto-Neuro-Vestibular Evaluation Unit, Hôpital Robert Debré, Paris, France, FR aut NATIONALLICENCE 700 1- Morisseau-Durand Marie-Paule Otorhinolaryngology Unit, Hôpital Necker-Enfants Malades, Paris, France, FR aut NATIONALLICENCE 700 1- Porée Claude Paediatric Radiology Unit, Hôpital Necker-Enfants Malades, Paris, France, FR aut NATIONALLICENCE 700 1- Amiel Jeanne Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France, FR aut NATIONALLICENCE 700 1- Amanou Laurent Otorhinolaryngology Unit, Hôpital Necker-Enfants Malades, Paris, France, FR aut NATIONALLICENCE 700 1- Peigné Catherine Department of Paediatrics, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75345 Paris cedex 15, France e-mail: veronique.abadie@nck.ap-hop-paris.fr; Tel.: +33-1-44495211; Fax: +33-1-47833226, FR aut NATIONALLICENCE 700 1- Lyonnet Stanislas Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France, FR aut NATIONALLICENCE 700 1- Manac'h Yves Otorhinolaryngology Unit, Hôpital Necker-Enfants Malades, Paris, France, FR aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer