title: Olfactory evaluation in children: application to the CHARGE syndrome.
abstract: 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.
authors.affiliation: General Pediatrics Unit, Hôpital Necker Enfants Malades, Paris, France.
authors.forename: Christel
authors.initials: C
authors.lastname: Chalouhi
authors.forename: Patrick
authors.initials: P
authors.lastname: Faulcon
authors.forename: Christine
authors.initials: C
authors.lastname: Le Bihan
authors.forename: Lucie
authors.initials: L
authors.lastname: Hertz-Pannier
authors.forename: Pierre
authors.initials: P
authors.lastname: Bonfils
authors.forename: Véronique
authors.initials: V
authors.lastname: Abadie
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D002648:Child; D002754:Choanal Atresia; D003103:Coloboma; D005247:Feeding Behavior; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009812:Odorants; D000857:Olfaction Disorders / Q000150:complications / Q000175:diagnosis*; D009830:Olfactory Bulb / Q000002:abnormalities; D012684:Sensory Thresholds; D013577:Syndrome