Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation

Area of Science:

• Neurogenetics
• Developmental Neuroscience
• Auditory Neuroscience

Background:

• The PAX6 gene is crucial for brain development and its mutations are linked to aniridia and interhemispheric pathway abnormalities.
• While PAX6 mutations are known to affect development, their specific impact on auditory processing and verbal working memory in children requires further investigation.

Observation:

• A 12-year-old boy with a known PAX6 mutation presented with parental concerns about hearing, despite normal pure-tone audiograms.
• Standard central auditory tests revealed deficits in auditory interhemispheric transfer, specifically in dichotic digit and pattern tests.
• Speech and language assessment indicated impaired verbal working memory, although other language skills were age-appropriate.

Findings:

• The patient exhibited impaired auditory sensory processing and higher-order interhemispheric transfer.
• These auditory deficits correlated with parent-reported hearing difficulties.
• This is the first documented case of central auditory and verbal working memory deficits in a child with a PAX6 mutation.

Implications:

• The findings suggest that PAX6 mutations can lead to subtle auditory processing and verbal working memory impairments in children, affecting interhemispheric communication.
• These deficits may underlie reported hearing difficulties and impact academic performance, necessitating further research.
• This case underscores the importance of comprehensive auditory and cognitive assessments in children with PAX6 mutations.