Cochlear Implantation in a Child with Patau Syndrome

Area of Science:

• Otolaryngology
• Genetics
• Pediatrics

Background:

• Patau syndrome (Trisomy 13) is a severe genetic disorder associated with significant developmental challenges.
• Hearing impairment is a common comorbidity in Patau syndrome, impacting communication and development.
• Limited data exists on audiological outcomes and surgical interventions for Patau syndrome patients.

Purpose of the Study:

• To report the first-ever cochlear implant surgery in a patient diagnosed with Patau syndrome.
• To evaluate the audiological outcomes and quality of life improvements following cochlear implantation.
• To establish the feasibility and efficacy of cochlear implantation in this unique patient population.

Main Methods:

• Auditory Brainstem Response (ABR) testing at 37 months to assess neural pathway function.
• Free-field audiometry in the first year to determine hearing thresholds.
• Post-implantation audiological assessments using the Meaningful Auditory Integration Scale (MAIS) and Meaningful Use of Speech Scale (MUS).

Main Results:

• ABR revealed absent I-III-V waves at 100 dB in the right ear and present waves at 90 dB in the left ear pre-implantation.
• Free-field audiometry indicated a cochlear implantation threshold of 45 dB.
• Post-surgery, MAIS scores were 35/40 and MUS scores were 13/40, demonstrating significant auditory integration and speech use.

Conclusions:

• Cochlear implantation is a viable and effective treatment for hearing loss in patients with Patau syndrome.
• The surgery resulted in good hearing outcomes and a notable positive impact on the patient's quality of life.
• This case highlights the potential benefits of early audiological intervention and advanced surgical techniques for rare genetic syndromes.