CHARGE Syndrome: A Window of Opportunity for Audiologic Intervention

Abstract

Objective. To detail the clinical features of 22 new patients with a syndrome characterized by ocular coloboma, heart defects, atretic choanae, retarded growth or development, genital hypoplasia, and ear anomalies or hearing loss (CHARGE) seen in a tertiary academic medical center; compare auditory brainstem response (ABR) thresholds and behavioral hearing test results; identify a “window of opportunity” for audiologic intervention; review the literature regarding hearing results in CHARGE syndrome; and review the relationship between facial palsy and sensorineural hearing loss. Methods. Clinical data were gathered to examine 1) the variety of hearing results, 2) the average age at the time of hearing loss identification in 22 children with CHARGE using electrophysiologic and behavioral test methods, 3) the usefulness of the ABR as an early indicator of hearing sensitivity for a select group composed of children from the present study and from an earlier report from the same institution, and 4) the value of congenital facial paralysis as a predictor of sensorineural hearing loss in CHARGE children seen in the authors’ institution since 1983. Results. All children had 4 or more acronymic features, including colobomatous defects or choanal atresia. Ear anomalies/hearing loss occurred at least as frequently as other primary features. A total of 81% of patients had hearing loss; in this subset, 1 child had a mild degree of loss, and the remaining children had moderate or greater losses. The average age at which ABR confirmed hearing status was 3.8 months, whereas for behavioral testing, that age was 24.7 months, a statistically significant difference. In a select group of 16 children, no statistical differences existed when comparing threshold results of early electrophysiologic testing with behavioral test findings obtained at a later date. Contingency analysis suggests that congenital facial paralysis and sensorineural hearing loss are related. Conclusions. Hearing loss is prevalent in children with CHARGE syndrome. Within a wide range of results exists a propensity for moderate or greater hearing loss in children with sensorineural or mixed impairments. Congenital facial palsy seems to be a valid statistical predictor of sensorineural hearing loss and can be a useful device in audiologic decision making. A “window of opportunity” for audiologic intervention exists in the first few months of life. Primary care providers are encouraged to recognize the need for immediate, early audiologic referral of their patients suspected to have CHARGE. Evaluation of hearing sensitivity during infancy and, when appropriate, provision of amplification are important components in the process of auditory habilitation. These efforts are in keeping with various professional guidelines that call for early detection of hearing loss and subsequent prompt intervention to minimize effects on infant development.