Hearing characteristics and cochlear implant effects in children with Waardenburg syndrome: a case series

Abstract

Background: Waardenburg syndrome (WS) has high clinical and genetic heterogeneity. We aimed to investigate the clinical characteristics of children with WS, and to analyze the effect of cochlear implantation in children with WS who had severe sensorineural hearing loss. Methods:The clinical characteristics of children with WS diagnosed and treated in the past 5 years in the Department of Otolaryngology, Shanghai Children's Hospital were retrospectively analyzed. The 5 WS cases, including 2 males and 3 females, had bilateral severe sensorineural hearing loss. Cochlear implantation was performed between 8 and 21 months old. Audiology tests were conducted, including otoacoustic emissions (OAEs), auditory brainstem response (ABR), and multiple auditory steady-state evoked responses (ASSR). Preoperative computerized tomography (CT) and magnetic resonance imaging (MRI) were performed to evaluate the development of the inner ear and brain. All WS cases were evaluated for hearing and speech abilities before cochlear implantation and at 1 month, 6 months, 12 months, and 24 months after implantation.Results: Among the 5 cases, 3 were WS1, 1 was WS2, and 1 was WS4. All 5 cases received cochlear implantation, and postoperative CT showed that the implant position was good. The infant toddler meaningful auditory integration scale (IT-MAIS) and meaningful use of speech scale (MUSS) scores of all cases increased with hearing age, and IT-MAIS scores were lower than those of normal hearing children of the same age.Conclusions: Children with WS usually have hearing loss. In WS cases with severe sensorineural hearing loss, early cochlear implantation can achieve better hearing and speech development.

Outcomes of Cochlear implantation in early‐deafened patients with Waardenburg syndrome: A systematic review and narrative synthesis

“…All studies were published between 2000 and 2022. Study characteristics are summarized in Table 1 15,24–38 …”

“…Radiological assessment with either preoperative computed tomography (CT) or magnetic resonance imaging (MRI) was reported in 100 patients across 10 studies (Table 1) 15,24,25,27,28,30–32,34,37 ; findings varied from normal anatomy, to malformations of the cochlea, vestibule or semicircular canals. Only one study discussed pre‐implantation radiological findings in relation to genetic analysis, highlighting one case of bilateral cochlear hypoplasia in a patient with SOX10 mutation 37 …”

“…Speech perception was assessed in all studies through varied tools. The Meaningful Auditory Integration Scale (MAIS) or the Infant‐Toddler Meaningful Auditory Integration Scale (IT‐MAIS) was used most frequently across six studies to assess postoperative speech perception 24,26,30,32,37,38 . Polanski et al, reported both pre and post intervention IT‐MAIS/MAIS demonstrating improvement from average scores of 3%–90%.…”

“…The majority of WS patients who underwent either CT or MRI were found to have normal imaging and demonstrated functional improvement following CI 27,28,31,32,34 . Moreover, those with IP‐2, EVA, malformation of semicircular canals, vestibule or cochlea preoperatively did not exhibit a detrimental impact on audiological outcomes 15,24,25,30,31,37 . Although radiological findings had no reported impact on hearing and speech outcomes studies provided limited data on type and detail of imaging as well as reported outcome variables.…”

“…Study characteristics are summarized in Table 1. 15,[24][25][26][27][28][29][30][31][32][33][34][35][36][37][38]…”