Korean J Otorhinolaryngol-Head Neck Surg.  2019 Apr;62(4):216-220. 10.3342/kjorl-hns.2018.00514.

Case Series Outcomes of Cochlear Implantation in Children with Noonan Syndrome

• Chang YS
• Ahn J
• Hong SH
• Kim EY
• Chung WH
• Cho YS
• Moon IJ

• KMID: 2448114
• DOI: http://doi.org/10.3342/kjorl-hns.2018.00514

Abstract

BACKGROUND AND OBJECTIVES
Hearing loss is a common complication associated with Noonan syndrome (NS), and the level of hearing loss for NS patients with sensorineural loss ranged from normal to severe. Additional insights into the outcome of cochlear implantation (CI)in children with NS with or without comorbidities are needed.
SUBJECTS AND METHOD
In this study, five patients with NS, four with a mutation in PTPN11 and one who tested negative in mutation screening, diagnosed with the clinical scoring systemand underwent CI at ages ranging from 16 to 50 months were retrospectively reviewed. Patientswere evaluated for auditory perception (Categories of Auditory Performance), speech production (Korean Version of the Ling's Stage), and language ability (Receptive and Expressive Vocabulary Test).
RESULTS
In five of the children with NS, CI was performed without any complications. Threepatients who received CI before 30 months of age showed outstanding outcomes. One patientwho received CI at 50 months showed limited benefit. One patient who was diagnosed with developmental delay and cochlear nerve hypoplasia underwent CI at 28 months with poor outcome. DISCUSSION: Our report suggests that although the benefit may be influenced by comorbidities associated with NS or delay in hearing rehabilitation, profound hearing loss in patientswith NS may be restored to normal levels in terms of auditory/speech perception and vocabulary/language development. The variable hearing outcomes also underscore the need for earlyscreening and detection of profound hearing loss, and regular follow-up for hearing evaluationin patients with NS.

Keyword

Cochlear implantation; Hearing loss; Noonan syndrome; Outcome

MeSH Terms

Auditory Perception
Child*
Cochlear Implantation*
Cochlear Implants*
Cochlear Nerve
Comorbidity
Follow-Up Studies
Hearing
Hearing Loss
Humans
Language
Mass Screening
Methods
Noonan Syndrome*
Rehabilitation
Retrospective Studies
Vocabulary