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Olfactory evaluation in children: application to the CHARGE syndrome
Christel Chalouhi1, Patrick Faulcon, Christine Le Bihan
1General Pediatrics Unit, Hôpital Necker Enfants Malades, Paris, France.
Pediatrics
|June 17, 2005
Summary
Children with CHARGE syndrome exhibit significant olfactory dysfunction, with half being anosmic. This study highlights the importance of assessing olfactory function in diagnosing CHARGE syndrome, even in young or disabled children.
Area of Science:
- Pediatric neurology
- Olfactory research
- Genetics and rare diseases
Background:
- Olfactory dysfunction is common in CHARGE syndrome, impacting quality of life.
- Accurate assessment tools for pediatric olfaction are needed.
- CHARGE syndrome is a complex genetic disorder affecting multiple systems.
Purpose of the Study:
- To adapt and validate an olfactory test for children.
- To investigate olfactory function in children with CHARGE syndrome.
- To correlate olfactory deficits with clinical features and neuroimaging.
Main Methods:
- Adapted an adult olfaction test for pediatric use.
- Tested 25 healthy children and 14 children with CHARGE syndrome (ages 6-18).
- Utilized parental questionnaires, clinical assessments, and olfactory tract/bulb MRI.
Main Results:
- Healthy children demonstrated adult-like olfactory function.
- All children with CHARGE syndrome had olfactory deficits (anosmia or hyposmia).
- No correlation found between olfactory deficiency and feeding, sensory, or intellectual impairments; MRI showed rhinencephalon anomalies.
Conclusions:
- Pediatric olfaction testing is feasible, even in disabled children.
- Rhinencephalon anomalies are strongly associated with CHARGE syndrome.
- Olfactory assessment should be considered a key diagnostic criterion for CHARGE syndrome.