Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome

Autor: Rolien Free, Annemarie Vesseur, Conny M. A. van Ravenswaaij-Arts, Margreet Langereis, Emmanuel A. M. Mylanus, Ad F. M. Snik
Přispěvatelé: Perceptual and Cognitive Neuroscience (PCN), Clinical Cognitive Neuropsychiatry Research Program (CCNP)
Rok vydání: 2016
Předmět:
Male
0301 basic medicine
CHILDREN
Neuropsychological Tests
030105 genetics & heredity
Audiology
Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
MULTIPLE ANOMALIES
CHARGE syndrome
Cognition
0302 clinical medicine
Informed consent
Young adult
Child
Genetics (clinical)
Hearing Tests
ASSOCIATION
Middle Aged
DNA-Binding Proteins
Language development
Phenotype
MANIFESTATIONS
Child
Preschool
Female
intellectual disabilities
medicine.symptom
Psychology
language development
Adult
medicine.medical_specialty
Adolescent
Hearing loss
DIAGNOSIS
Young Adult
03 medical and health sciences
MANAGEMENT
Genetics
medicine
otorhinolaryngologic diseases
Humans
Language Development Disorders
CHOANAL ATRESIA
Association (psychology)
Genetic Association Studies
Retrospective Studies
hearing loss
MUTATIONS
DNA Helicases
Infant
Auditory Threshold
Retrospective cohort study
medicine.disease
GENE
Mutation
Cognition Disorders
030217 neurology & neurosurgery
Zdroj: American Journal of Medical Genetics. Part A, 170, 8, pp. 2022-30
American Journal of Medical Genetics. Part A, 170(8), 2022-2030. Wiley
American Journal of Medical Genetics. Part A, 170, 2022-30
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.37692
Popis: Item does not contain fulltext Hearing loss and cognitive delay are frequently occurring features in CHARGE syndrome that may contribute to impaired language development. However, not much is known about language development in patients with CHARGE syndrome. In this retrospective study, hearing loss, cognitive abilities, and language development are described in 50 patients with CHARGE syndrome. After informed consent was given, data were collected from local medical files. Most patients (38.3%; 18/47 patients) had moderate hearing loss (41-70 dB) and 58.5% (24/41 patients) had an IQ below 70. The mean language quotients of the receptive and expressive language were more than one standard deviation below the norm. Both hearing loss and cognitive delay had an influence on language development. Language and cognitive data were not available for all patients, which may have resulted in a pre-selection of patients with a delay. In conclusion, while hearing thresholds, cognitive abilities and language development vary widely in CHARGE syndrome, they are mostly below average. Hearing loss and cognitive delay have a significant influence on language development in children with CHARGE syndrome. To improve our knowledge about and the quality of care we can provide to CHARGE patients, hearing and developmental tests should be performed regularly in order to differentiate between the contributions of hearing loss and cognitive delay to delays in language development, and to provide adequate hearing amplification in the case of hearing loss. (c) 2016 Wiley Periodicals, Inc.
Databáze: OpenAIRE
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