Auditory function at birth in infants with biotinidase deficiency

Area of Science:

• Metabolic disorders
• Genetics
• Audiology

Background:

• Biotinidase deficiency (BD) is a metabolic disorder linked to acquired sensorineural hearing loss.
• Early diagnosis and treatment are crucial, but neonatal auditory function in BD requires further investigation.

Purpose of the Study:

• Evaluate newborn hearing screening outcomes in neonates diagnosed with biotinidase deficiency.
• Investigate the relationship between biotinidase enzyme activity levels and auditory brainstem response (ABR) results in neonates.

Main Methods:

• Retrospective analysis of neonates diagnosed with BD and a control group of healthy neonates.
• Newborn hearing screening using automated ABR within the first two weeks of life.
• Categorization of BD neonates based on biotinidase enzyme activity levels (severe, partial, normal).

Main Results:

• No significant difference in newborn hearing screening outcomes between neonates with BD and controls.
• Similar ABR pass and refer rates across different biotinidase enzyme activity subgroups within the BD group.
• No observed correlation between biotinidase enzyme activity levels and ABR results during the neonatal period.

Conclusions:

• Neonates with biotinidase deficiency exhibit normal neonatal hearing screening results.
• Hearing loss associated with BD is typically acquired postnatally, not congenital.
• Long-term audiological follow-up is essential for individuals with BD, even with normal neonatal screening results.