Auditory pathology in cri-du-chat (5p-) syndrome: phenotypic evidence for auditory neuropathy.
5p-(cri-du-chat syndrome) is a well-defined clinical entity presenting with phenotypic and cytogenetic variability. Despite recognition that abnormalities in audition are common, limited reports on auditory functioning in affected individuals are available. The current study presents a case illustrating the auditory functioning in a 22-month-old patient diagnosed with 5p- syndrome, karyotype 46,XX,del(5)(p13). Auditory neuropathy was diagnosed based on abnormal auditory evoked potentials with neural components suggesting severe to profound hearing loss in the presence of cochlear microphonic responses and behavioral reactions to sound at mild to moderate hearing levels. The current case and a review of available reports indicate that auditory neuropathy or neural dys-synchrony may be another phenotype of the condition possibly related to abnormal expression of the protein beta-catenin mapped to 5p. Implications are for routine and diagnostic specific assessments of auditory functioning and for employment of non-verbal communication methods in early intervention.
Swanepoel
D
D
Department of Communication Pathology, University of Pretoria, Gauteng, Pretoria 0002, South Africa. dewet.swanepoel@up.ac.za
D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D003582:Cytogenetics; D004594:Electrophysiology; D005260:Female; D005838:Genotype; D034381:Hearing Loss / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009422:Nervous System Diseases / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome; D051176:beta Catenin / Q000378:metabolism
D051176:beta Catenin