Published online June 15, 2005
PEDIATRICS Vol. 116 No. 1 July 2005, pp. e81-e88 (doi:10.1542/peds.2004-1970)
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ELECTRONIC ARTICLE

Olfactory Evaluation in Children: Application to the CHARGE Syndrome

Christel Chalouhi, MD*, Patrick Faulcon, MD{ddagger}, Christine Le Bihan, MD§, Lucie Hertz-Pannier, MD, PhD||, Pierre Bonfils, MD, PhD{ddagger} and Véronique Abadie, MD, PhD*

* General Pediatrics Unit
§ Pediatrics Radiology Unit
|| Biostatistics Unit, Hôpital Necker Enfants Malades, Paris, France
{ddagger} Department of Otolaryngology Head Neck Surgery, Unité Centre National de la Recherche Scientifique UPRESSA 7060, Hôpital Europeen Georges Pompidou, Paris, France

Objective. To find an efficient tool for testing olfactory function in children and use it to investigate a group of children with CHARGE (coloboma, congenital heart disease, choanal atresia, mental and growth retardation, genital anomalies, and ear malformations and hearing loss) syndrome.

Methods. We adapted for children an olfaction test that had just been validated in an adult French population and investigated a control group of 25 healthy children aged 6 to 13 years. We then tested the olfactory capacity of a group of 14 children with CHARGE syndrome, aged 6 to 18 years. A questionnaire was completed with the parents about their children's feeding difficulties and their ability to recognize odors in everyday life. We recorded and scored the histories of feeding behavior anomalies, the visual and auditory status, and current intellectual levels. MRI of the olfactory tracts and bulbs was analyzed for 9 of 14 children.

Results. We showed that healthy children have similar olfactory function to that of the adult control group, which was representative of the general population, without any difference for either gender or age. We also showed that all children with CHARGE syndrome had olfactory deficiency. Half of them were anosmic, and the others had olfactory residual function (hyposmic). We found no association between olfactory deficiency and feeding behavior, visual or auditory impairment, or intellectual level. Parental subjective evaluations were accurate for only half of the group. All of the MRIs showed anomalies of the olfactory tracts and bulbs varying from moderate hypoplasia to complete aplasia, without any relation between the radiologic and the functional results.

Conclusions. Olfaction can be assessed in children, even the young and disabled. Our results support the proposition that rhinencephalon anomalies should be included as a major criterion for the diagnosis of CHARGE syndrome.

Key Words: CHARGE syndrome • olfaction in children • olfactory deficiency

Abbreviations: CHARGE, coloboma, congenital heart disease, choanal atresia, mental and growth retardation, genital anomalies, and ear malformations and hearing loss • PEA, phenylethylalcohol

Accepted Nov 22, 2004.


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