Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. (June 2017)

• Record Type: Journal Article
• Authors: van Nierop, Josephine W.I.; van Trier, Dorothée C.; van der Burgt, Ineke; Draaisma, Jos M.T.; Mylanus, Emmanuel A.M.; Snik, Ad F.; Admiraal, Ronald J.C.; Kunst, Henricus P.M.
• Is Part Of: International journal of pediatric otorhinolaryngology. Volume 97(2017:Jun.)
• Page Start: 228
• Page End: 234
• Publication Date: 2017-06
• Subjects: Cochlear implantation -- Noonan syndrome -- Noonan syndrome with multiple lentigines -- PTPN11; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Oto-rhino-laryngologie -- Périodiques; Pédiatrie -- Périodiques; 618.9209751
• DOI: 10.1016/j.ijporl.2017.04.024
• Languages: English
• ISSNs: 0165-5876

Abstract

Abstract: Existing literature only reports a few patients with Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) who underwent cochlear implantation (CI). The present study describes four NS patients and one NSML patient with a PTPN11 mutation. They all had severe to profound hearing loss, and they received a CI. The age at which the CI surgery occurred ranged from 1 to 13 years old, and the audiological results in all five patients improved after the CI. Otological and audiological examinations in NS and NSML are important, and for those with severe hearing loss, the CI surgery improved the audiological outcome regardless of age.