Abstract
Objective
Cornelia de Lange syndrome (CdLS) is a multiple developmental disorder including hearing loss. The hearing impairment in CdLS patients is not only sensorineural but also conductive hearing loss (CHL). The aim of this study was to elucidate hearing loss causes in CdLS patients and evaluate the effect of ventilation tube (v-tube) insertion in the cases of CHL.
Methods
Thirty-two patients clinically diagnosed with CdLS were enrolled and analyzed with retrospective case review. Audiologic evaluations and imaging studies such as a temporal bone computed tomogram or brain magnetic resonance imaging (MRI) were performed for all patients. Hearing rehabilitation such as ventilation tube insertion, hearing aid fitting, or cochlear implantation was chosen depending on the audiological condition.
Results
Among 32 CdLS patients who underwent auditory brainstem response test, 81.2% presented hearing loss. Imaging studies showed that only middle ear lesions without inner ear anomalies were identified in 56.3%. Notably, the soft tissue lesion in middle ear was identified even in the neonatal MRI. When 7 patients were thought to have CHL due to otitis media with effusion, v-tube insertion was applied first. However, v-tube insertion rarely improved CHL postoperatively. Moreover, middle ear lesion was not fluid effusion but soft tissue lesion according to the intraoperative finding. These lesions were not eradicated even after revision surgery of v-tube insertion.
Conclusion
V-tube insertion is not effective to improve hearing or eradicate otitis media with effusion in CdLS patients.
1
Introduction
Cornelia de Lange syndrome (CdLS; MIM#122470) is an inherited multiple developmental disorder characterized by facial anomalies, growth/cognitive developmental retardation, and upper limb malformations. Other problems include heart and genitourinary defects, cleft palate, myopia, impaired hearing, and psychiatric and behavioral issues. Several genes such as NIPBL , SMC1A , and SMC3 have been attributed to the disease . Hearing loss is one of the major phenotypes in CdLS patients . Although NIPBL mutation is correlated with a severe phenotype, the severity of hearing loss is not associated with NIPBL mutation and remains unpredictable. The prevalence of hearing impairment is about 80% in CdLS patients . Sensorineural hearing loss (SNHL) has been known to be dominant in CdLS patients, whereas a recent report stated that the conductive component was the major cause of hearing loss in CdLS patients .
CdLS causes a range of physical, cognitive, and medical challenges; thus, an interdisciplinary approach to treatment is necessary. Defining treatment guidelines for CdLS patients makes it possible to individualize patient care, and potential development could be maximized . However, the hearing rehabilitation of CdLS patients is still challenging because there is no detailed guideline for hearing loss treatment, and the type of hearing loss is usually unclear, even if the patients are diagnosed with CdLS. Moreover, it is not easy to decide which modality of hearing rehabilitation should be chosen because of a lack of prior studies on the subject.
Herein, we analyzed the hearing loss type of 32 CdLS patients and reviewed the outcomes of hearing rehabilitation depending on the type and severity of hearing impairment. Specifically, we evaluated the effect of ventilation tube (v-tube) insertion in the cases of conductive hearing loss (CHL).
2
Materials and methods
2.1
Subjects
From January 2005 to March 2015, 32 patients (12 males and 20 females) with CdLS who were referred to the Department of Otorhinolaryngology at Sinchon Severance Hospital, Seoul, Korea were enrolled. This study was approved by the local ethical committees of Yonsei University (4-2015-0181).
2.2
Audiologic tests
Hearing evaluation was possible in all patients: auditory brainstem response (ABR) in 32 cases and impedance audiometry in 14. The ABR was performed via air conduction when patients were referred to the department of otorhinolaryngology for hearing evaluation. In ABR, 1024 clicks were delivered to the subjects at the rate of 10 clicks/s at each intensity level tested (recordings were repeated at least). During the recording time, the patients were sedated with oral chloral hydrate. We classified hearing impairment with ABR threshold as 25–40, mild; 40–55, moderate; 55–70, moderate-to-severe; and over 70, profound.
2.3
Imaging studies
Temporal bone computed tomography (TBCT) was performed on a 16 multidetector row CT scanner (SOMATOM Sensation 16; Siemens, Erlangen, Germany) by using a standard temporal bone protocol. Contiguous 0.7-mm slices of the temporal bone were acquired in the axial plane and reformatted coronally in 1.0-mm increments. Internal auditory canal and brain magnetic resonance imaging (MRI) was also performed for some patients. MRI scans were taken with a 3 mm thickness image on an Intera 1.5 T instrument (Phillips Medical Systems, Best, The Netherlands). Gadolinium-diethylenetriamine pentaacetic acid (Gd-DTPA) was used as a contrast medium with a dosage of 0.1 mmol/kg given intravenously. The film was read by a radiology specialist who was unaware of the lesion.
2.4
Statistical analysis
The statistical analysis was performed with SPSS software for PC, version 15 (SPSS Inc., Chicago, IL, USA). The results of multiple experiments are presented as the means ± standard deviation (SD) and comparisons between continuous variables utilized paired t tests for the 2 groups. All tests used a p -value of 0.05 as the threshold for significance.
2
Materials and methods
2.1
Subjects
From January 2005 to March 2015, 32 patients (12 males and 20 females) with CdLS who were referred to the Department of Otorhinolaryngology at Sinchon Severance Hospital, Seoul, Korea were enrolled. This study was approved by the local ethical committees of Yonsei University (4-2015-0181).
2.2
Audiologic tests
Hearing evaluation was possible in all patients: auditory brainstem response (ABR) in 32 cases and impedance audiometry in 14. The ABR was performed via air conduction when patients were referred to the department of otorhinolaryngology for hearing evaluation. In ABR, 1024 clicks were delivered to the subjects at the rate of 10 clicks/s at each intensity level tested (recordings were repeated at least). During the recording time, the patients were sedated with oral chloral hydrate. We classified hearing impairment with ABR threshold as 25–40, mild; 40–55, moderate; 55–70, moderate-to-severe; and over 70, profound.
2.3
Imaging studies
Temporal bone computed tomography (TBCT) was performed on a 16 multidetector row CT scanner (SOMATOM Sensation 16; Siemens, Erlangen, Germany) by using a standard temporal bone protocol. Contiguous 0.7-mm slices of the temporal bone were acquired in the axial plane and reformatted coronally in 1.0-mm increments. Internal auditory canal and brain magnetic resonance imaging (MRI) was also performed for some patients. MRI scans were taken with a 3 mm thickness image on an Intera 1.5 T instrument (Phillips Medical Systems, Best, The Netherlands). Gadolinium-diethylenetriamine pentaacetic acid (Gd-DTPA) was used as a contrast medium with a dosage of 0.1 mmol/kg given intravenously. The film was read by a radiology specialist who was unaware of the lesion.
2.4
Statistical analysis
The statistical analysis was performed with SPSS software for PC, version 15 (SPSS Inc., Chicago, IL, USA). The results of multiple experiments are presented as the means ± standard deviation (SD) and comparisons between continuous variables utilized paired t tests for the 2 groups. All tests used a p -value of 0.05 as the threshold for significance.
3
Results
3.1
Characterization of hearing loss in patients with CdLS syndrome
The study enrolled 32 patients who were diagnosed with CdLS ( Table 1 ). The patients’ ages ranged from 0 to 10 years old (mean ± standard deviation: 9.7 ± 2.2 years). The age at the time of diagnosis of hearing loss was 11.9 ± 3.0 years. There was time gap between the diagnosis of CdLS and hearing loss. The hearing level of the worse ear (ABR threshold) was classified as follows: normal 6 (18.8%), mild hearing loss, 2 cases (6.3%); moderate hearing loss, 5 (15.6%); moderate-to-severe, 10 (31.3%); severe, 4 (12.5%); and profound, 5 (15.6%). The average ABR thresholds were 50.0 ± 26.6 dB nHL and 63.1 ± 24.8 dB nHL in the better and worse ear, respectively. A moderate-to-severe level of hearing loss was the most common type in CdLS patients. In impedance audiometry data of 14 patients, 13 patients were type B and 1 patient was type A, which conferred that most of patients had conductive components of hearing loss.
| Characteristics | n = 32 |
|---|---|
| Age at CdLS diagnosis (y) | 9.7 ± 2.2 |
| Sex | n (%) |
| Male | 12 (37.5) |
| Female | 20 (62.5) |
| Age at the diagnosis of hearing loss (y) | 11.9 ± 3.0 |
| Range of patient age at the diagnosis of hearing loss (y) | n (%) |
| 0 | 13 (40.6) |
| 1–2 | 10 (31.3) |
| 3–4 | 6 (18.8) |
| 5–6 | 1 (3.1) |
| ≥ 7 | 2 (6.3) |
| Hearing level of the worse ear (ABR threshold) | n (%) |
| Normal (< 25) | 6 (18.8) |
| Mild (25–40) | 2 (6.3) |
| Moderate (40–55) | 5 (15.6) |
| Moderate-severe (55–70) | 10 (31.3) |
| Severe (70–90) | 4 (12.5) |
| Profound (> 90) | 5 (15.6) |
| Average of ABR threshold (n = 32) | dB nHL |
| Right | 50.0 ± 26.6 |
| Left | 63.1 ± 24.8 |
| Image findings of temporal bone CT or MRI | n (%) |
| Normal | 5 (15.6) |
| Middle ear lesions a | 19 (56.3) |
| Inner ear lesions b | 1 (3.1) |
| Mixed lesions (middle and inner ear lesions) | 7 (21.9) |
Stay updated, free articles. Join our Telegram channel
Full access? Get Clinical Tree
