As Chudley-McCullough syndrome can present with congenital to childhood-onset hearing loss, even if newborn hearing screening was passed, audiological evaluations should be performed routinely to monitor for hearing loss throughout childhood. Most children with severe-to-profound hearing loss who are cochlear implant recipients initially require frequent follow-up visits with their cochlear implant team (otolaryngologist, audiologist, and speech-language pathologist) for assessment of speech recognition and equipment check.
Neurology referral should be arranged for all patients regardless of the clinical signs of seizures, neurodevelopmental disorder, or a normal neurologic examination, for neurodevelopmental evaluation and brain imaging can be performed to examine for differences in the brain.
Counseling: Consultation with a medical geneticist, certified genetic counselor, or certified advanced genetic nurse to inform affected individuals and their families about the nature, mode of inheritance, and implications of Chudley-McCullough syndrome in order to facilitate medical and personal decision making.
GPSM2