Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development |
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Authors: | Véronique Abadie Sylvette Wiener-Vacher Marie-Paule Morisseau-Durand Claude Porée Jeanne Amiel Laurent Amanou Catherine Peigné Stanislas Lyonnet Yves Manac'h |
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Institution: | Department of Paediatrics, H?pital 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 Department of Otorhinolaryngology, Oto-Neuro-Vestibular Evaluation Unit, H?pital Robert Debré, Paris, France, FR Otorhinolaryngology Unit, H?pital Necker-Enfants Malades, Paris, France, FR Paediatric Radiology Unit, H?pital Necker-Enfants Malades, Paris, France, FR Department of Genetics, H?pital Necker-Enfants Malades, Paris, France, FR
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Abstract: | 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.
Received: 26 August 1999 / Accepted: 5 January 2000 |
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Keywords: | CHARGE syndrome Inner ear Vestibular function Semicircular canals Otolith |
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