Otolaryngological presentations of Cornelia de Lange syndrome

Aim

Children with Cornelia de Lange syndrome frequently present to otolaryngology services with hearing problems. Airway problems have not previously been reported. We wish to describe our experience of the overall management in a series of children with Cornelia de Lange syndrome.

Methods

Retrospective case note review of children diagnosed with Cornelia de Lange syndrome presenting to our department between 2005 and 2014.

Results

Six patients were seen. Airway problems consisted of laryngeal overspill with severe gastroesophageal dysmotility and reflux despite structurally normal airway (1 case), laryngomalacia requiring supraglottoplasty (2 cases), reflux laryngitis with secondary laryngomalacia and coincidental tracheal diverticulum (1 case) choanal atresia requiring stents (1 case) and obstructive sleep apnoea (1 case). Supraglottoplasty produced a dramatic improvement in feeding and breathing in both children who underwent the procedure. Two children had palatal anomalies and one underwent cochlear implantation for a profound sensorineural hearing loss.

Conclusion

Children with Cornelia de Lange syndrome have multifaceted ENT problems. Airway pathology has not previously been described in Cornelia de Lange syndrome but has been common in our experience. We wish to highlight that laryngomalacia in Cornelia de Lange syndrome responds well to supraglottoplasty.     

Characterization of sleep disturbance in Cornelia de Lange Syndrome

Objective

Prior studies have suggested that sleep disturbance is common in Cornelia de Lange Syndrome (CdLS); however, the nature of this sleep disturbance has not been well characterized. In this study, we evaluate the prevalence of sleep disordered breathing (SDB) and sleepiness in children and young adults with CdLS.

Methods

Caregivers of 22 patients with CdLS completed 3 validated Pediatric Sleep Questionnaires: the Pediatric Sleep Questionnaire (PSQ), Pediatric Daytime Sleepiness Scale (PDSS), and OSA18.

Results

Both measures of SDB (OSA18 and PSQ) suggest that 35-36% of these patients may have moderate to severe SDB. This is much higher than the general population estimates of 1-4% for SDB with a relative risk of 5.2 (95% CI: 2.8-9.9). Correlation between the OSA18 and PSQ was significant (R = 0.67; 95% CI: 0.33-0.85, p = 0.0007). Confirming these results among patients with a high probability of SDB (based upon OSA18 scores ≥60), there was a non-significant trend toward increased sleepiness with a relative risk of 2.0 (95% CI: 0.73-5.7, p = 0.31) on the PDSS and 2.9 (95% CI: 0.93-9.1, p = 0.08) on the PSQ sleepiness scale. In those patients with low probability of SDB (OSA18 < 60), sleepiness was still seen in 13-29% of patients. Overall 23-35% of participants were characterized as sleepy.

Conclusions

Sleep disordered breathing and sleepiness appear to be common in CdLS although small sample sizes limit further conclusions. Additional studies with larger sample size and confirmation with polysomnography are needed to further explore the nature and extent of sleep disturbance in this population.     

Audiological features of Turner's syndrome in adults

Abnormalities of the ear and hearing are well recognized in Turner's syndrome (TS), which is one of the most common chromosomal abnormalities. Presented here are the preliminary data from a UK study of the audiological features of 113 women over the age of 16 years with TS. Seventeen per cent had normal hearing, 19% had conductive or mixed loss, and 47% had sensorineural hearing loss associated with the TS. The results are discussed with reference to previously published studies and to the lack of consensus on comparative definitional terms in audiology.     

Audiological evaluation and self-assessed hearing problems in subjects with single-sided congenital external ear malformations and associated conductive hearing loss

Previously, unilateral hearing impairment (UHI) has been considered of little consequence. However, a recent meta-analysis of children with UHI displayed educational and behavioural problems and possible delays of speech and language development. Further, patients with UHI consequently report hearing difficulties. Our study investigated hearing function, possible inner ear protection, and self-assessed hearing problems in 57 subjects aged between 3–80 years with single-sided congenital ear malformations and conductive UHI. Pure-tone thresholds and speech recognition (quiet, noise) were measured, and all patients completed a self-assessment questionnaire. Pure-tone thresholds corresponding to sensorineural function did not significantly differ between the normal (air conduction) and affected ear (bone conduction). However, speech recognition in both quiet and in noise was normal on the non-affected side but significantly worse on the malformed side. A moderate to high degree of self-assessed hearing problems were reported. In conclusion, hearing function in the affected ear was found to be subnormal in terms of supra threshold signal processing. Furthermore, a high degree of hearing difficulty was reported. Therefore, active treatment, surgery, or hearing amplification, might be considered.     

Air-bone gap estimated with multiple auditory steady-state response in young children with otitis media with effusion

Objective

Multiple auditory steady-state responses (ASSRs) to air- and bone-conduction stimuli were recorded in young children with otitis media with effusion (OME). After treatment for OME, differences between pre-treatment bone-conduction ASSR levels and post-treatment conditioned orientation reflex (COR) or air-conduction ASSR levels were examined, and compared with ASSR-estimated air-bone gap (ABG) before treatment.

Methods

Navigator Pro with Master was used to assess the threshold of air- and bone-conduction ASSR in both ears at 500 Hz, 1000 Hz, 2000 Hz and 4000 Hz. For bone-conduction ASSR, RadioEar B-71 bone-vibrator placed on the mastoid was used with white-noise masking on the contralateral ear.

Results

After ventilation tube placement, the thresholds of COR got closer to those of pre-treatment bone-conduction ASSR in young children with OME. Moreover, post-treatment air-conduction ASSR thresholds also got closer to those of pre-treatment bone-conduction ASSR. The differences between pre-treatment bone-conduction ASSR thresholds and post-treatment COR or air-conduction ASSR thresholds became much smaller than ASSR-estimated ABG before treatment.

Conclusion

These findings suggest that bone-conduction ASSR can assess the normal or near normal cochlear sensitivity in young children with conductive hearing loss. It is also suggested that ASSR-estimated ABG can be used clinically to predict their accurate ABG.     

Association of otoscopic findings and hearing level in pediatric patients with otitis media with effusion

Objective

To find the association between the abnormalities of tympanic membrane characteristics and the hearing level in pediatric patients with otitis media with effusion.

Methods

Sixty-three pediatric patients with otitis media with effusion had undergone ear examinations by pneumatic otoscopy to assess the color, transparency, mobility, fluid level and retraction of the tympanic membrane. An audiogram was done in the same setting, average hearing threshold and air-bone gap were measured. Otoscopic findings and the result of the hearing test were analyzed to identify the association between the abnormalities of the tympanic membrane characteristics and elevated hearing threshold.

Results

Hearing loss was found in 92.1% of the patients. Mean hearing level was 31.7 ± 10.3 dB. From linear regression analysis, the patients with dull or opaque tympanic membrane had a significantly higher hearing threshold of 7.2 dB than the patient with translucent ear drum after adjusting for mobility and retraction. The patients with tympanic membrane retraction had a higher hearing threshold of 5.1 dB than the patient who had no retraction after adjusting for transparency and mobility. Mobility had a significant relationship to elevated hearing threshold in the univariate analysis but not in multivariable analysis.

Conclusion

Opacity and retraction were the two characteristics of abnormal tympanic membrane that were associated with elevated hearing threshold in the patients with otitis media with effusion. Hearing test is suggested if opacity or retraction of the tympanic membrane is found.     

Otitis media with effusion in children with cleft lip and palate: A narrative review

Objective

Repair surgery of cleft lip and palate (CLP) can produce satisfactory cosmetic results but the problem of recurrent otitis media with effusion (OME) secondary to CLP may persist. This can cause long-term hearing loss and affect linguistic, academic, and personal development. The aim of this review is to provide the most recent information regarding OME in children with CLP.

Methods

All papers referring to children with CLP and OME were identified from searches in Medline, PubMed, Cochrane Library, and Web of Science. Abstracts were read and relevant papers were obtained. Additional studies were obtained from the references of the selected articles.

Results

Both current and previous research on OME in children with CLP focused on the controversy over treatment strategies. Evidence on the optimal treatment for OME in CLP children was lacking. Ventilation tube surgery using the same anesthetic as lip or palate procedures was not well-supported. After summarizing the literature review, a flowchart of management guidance for such patients is also recommended. Updated reviews such as this will provide clinicians and patients/parents with a valuable reference.

Conclusions

The lack of evidence on the optimal treatment for OME in children with CLP should prompt a relatively conservative approach. However, only a consensus between patients/parents and surgeons regarding the most suitable treatment strategy for OME can ensure the greatest benefit to individual patients.     

双耳感音神经性聋患儿合并分泌性中耳炎的临床诊治

目的 探讨双耳感音神经性聋并发分泌性中耳炎患儿的症状特点, 为及时诊治此类患者提供临床依据。方法 收集经手术治疗的双耳感音神经性聋并发分泌性中耳炎患儿(A组)17例(34耳)的病历资料, 分析其误诊原因、临床特点及并发症发生率, 并与同期行手术治疗的单纯双耳单纯分泌性中耳炎患儿(B组)17例(34耳)进行鼓室粘连发生率的比较。手术前后应用听性脑干反应(ABR)检查随诊听力变化。结果 A组均以家属发现听力下降为首诊症状, 在当地首诊曾诊断为突发性聋7例, 耳闷塞感、耳鸣、耳痛等症状叙述不清, 均无法采集到确切的分泌性中耳炎发病时间;行双耳鼓膜置管时发现中耳粘连5例(7耳), 手术前后ABR检查Ⅴ波阈值改善0～30 dB nHL, 平均17.3 dB nHL, 手术前后Ⅴ波阈值改善, 差异有统计学意义(P < 0.05)。B组患儿无1例误诊, 首诊诉耳痛或耳鸣、耳闷塞感等耳部不适症状15例, 发病时间明确, 首诊诉听力下降2例, 鼓膜置管时中耳粘连1例(1耳)。A组并发症发生率高于B组, 差异有统计学意义(P < 0.05)。结论 双耳感音神经性聋并发分泌性中耳炎患儿临床病史采集困难, 易误诊, 临床并发症发生率高, 应及时干预;鼓膜置管对听力改善效果明显。     

Magnesium levels in middle ear fluids and sera in otitis media with effusion

Summary Middle ear fluids (MEE) and matched sera (S) were obtained from 50 patients with serous otitis media and magnesium levels were measured to determine if magnesium concentration was distinctly varied in otitis media with effusion (OME). The MEE/S ratio was considerably raised along with transient sensory hearing loss in chronic OME when compared with acute OME. The higher magnesium level found in the MEE implies that it is probably produced locally by the middle ear mucosa and may contribute to the hearing loss found. We also regard the MEE/S ratio as a prognostic factor in OME. Correspondence to: W. L. Yue     

The effects of methylprednisolone, montelukast and indomethacine in experimental otitis media with effusion

Objectives

The present study aimed to investigate the effects of indomethacine, montelukast and methylprednisolone in management of experimental otitis media with effusion.

Methods

Forty Wistar albino rats of which the weights ranged between 310 and 370 g were included in this study. Middle ear effusion was created by transtympanic histamine injection. The presence of effusion was confirmed by otomicroscopic examination. Thirty-seven rats with effusion were divided into 4 groups (methylprednisolone, montelukast, indomethacine and saline-control groups). All agents were administered for a period of consecutive 10 days. At the 11th days of administration, the recovery of effusion was confirmed by otomicroscopic examination. Tympanic bullae of the rats were removed and histopathological examinations were carried out. In the histopathological examination, the neutrophil leukocytes accumulated in the middle ear submucosa were counted.

Results

The mean numbers of submucosal neutrophils in the methylprednisolone, montelukast, indomethacine, and saline groups were 24.6 ± 8.1, 54.1 ± 6.2, 52.3 ± 7.3, 55.7 ± 8.3, respectively. The otomicroscopic recovery rates of effusion in the methylprednisolone, montelukast, indomethacine, and saline groups were 18/18 (100%), 8/18 (44%), 2/14 (14%), 2/18 (11%) respectively.

Conclusions

Methylprednisolone and montelukast ameliorate the middle ear effusion. However, only methylprednisolone reduces the submucosal infiltration of the neutrophil leukocytes which are the most evident cell of inflammatory process. Montelukast is effective in the resolution of experimental otitis media with effusion.     

Prospective comparison of handheld pneumatic otoscopy, binocular microscopy, and tympanometry in identifying middle ear effusions in children

Objectives

To compare pneumatic otoscopy, binocular microscopy, and tympanometry in identifying middle ear effusions in children and to determine if a significant difference exists in sensitivity and specificity based on patient age and/or experience of the examiner.

Methods

A prospective study of 102 patients, or 201 ears, enrolled over a 1-year period in a tertiary medical center. Sensitivity, specificity, positive predictive value, and negative predictive value were determined for staff and resident-performed pneumatic otoscopy, staff and resident-performed binocular microscopy, and tympanometry. Tympanometry data were stratified for age. A kappa correlation was used to compare each tool to myringotomy result (gold standard) and to compare staff versus resident.

Results

Binocular microscopy by staff pediatric otolaryngologist was the most sensitive, 88.0% (95% CI 81.4-94.7), and specific, 89% (95% CI 83.1-94.9). Resident binocular microscopy revealed a sensitivity of 81.5% (95% CI 73.6-89.5) and specificity 78.9% (95% CI 71.2-86.6). Staff was more sensitive and specific than resident at pneumatic otoscopy, sensitivity 67.9% (95% CI 57.6-78.3) and specificity 81.4% (95% CI 73.8-88.9) versus 57.7% (95% CI 46.7-68.7) and 78.4% (95% CI 70.4-86.4). Tympanometry had a much lower specificity for ages 5-12 months than for older children.

Conclusions

Binocular microscopy by staff pediatric otolaryngologist revealed the best sensitivity and specificity. Pneumatic otoscopy even performed by an inexperienced examiner is more sensitive and specific than tympanometry. The tympanometer is less specific in children under 1 year of age.     

Abnormal CT temporal bone findings in a case of Kallmann syndrome presenting with conductive hearing loss

Kallmann syndrome is characterised by hypogonadotrophic hypogonadism and hyposmia. Sensorineural hearing loss is a frequently described association with this syndrome. We report a case of Kallmann syndrome presenting with conductive hearing loss and the CT temporal bone findings of absence of all the semicircular canals. We also postulated the causes for the conductive hearing loss and reviewed the relevant literature.     

Relationship between CT findings and sensorineural hearing loss in chronic otitis media

Objective

To investigate the relationships between the temporal bone CT findings and sensorineural hearing loss in ears with non-cholesteatomatous chronic otitis media (COM).

Methods

Preoperative bone conduction (BC) hearing thresholds of 266 patients (304 ears) with COM were compared with those of 342 normal individuals (440 ears) by audiometry. The incidence of abnormal BC threshold at lower frequencies (250–1000 Hz) and at higher frequencies (2000–4000 Hz) were examined and the differences between control and COM groups were compared by using χ2 test. In the COM group, the cross-sectional area of the mastoid air cells based on the axial CT image (n = 255) were correlated with the results of BC threshold.

Results

The percentage in the COM group exceeds 15% in their 50s at lower frequencies while in their 40s at higher frequencies. The BC thresholds were significantly better in the group with normal mastoid area than in those with smaller mastoid area at each decadal age group. The BC impairment from COM becomes worse as the course of the disease progresses and deteriorated from 40s rapidly, especially at higher frequencies and in the group with smaller mastoid area.

Conclusion

These results recommend that early treatment, including surgery, should be considered as early as possible before BC impairment occurs, especially for COM cases with smaller mastoid area, which may indicate the existence of more severe otitis media since earlier childhood.     

Audiological and vestibular features in affected subjects with USH3: A genotype/phenotype correlation

The aims were to compare the genotype/phenotype relationship between USH3 mutations and the consequent hearing and vestibular phenotype; and to compare hearing loss (HL) progression between Usher syndrome types IB, IIA and USH3. Genetic, audiometric and vestibular examinations were performed in 28 subjects with USH3. Five different mutations in USH3 were identified. Severe HL was present from an early age (4 to 6 years) in 35% of subjects with USH3. Progression of HL begins in the first decade, and approximately 50% of subjects with USH3 become profoundly deaf by age 40. Various vestibular abnormalities were found in about half (10/22) of the tested subjects with USH3. Depending on the severity of HL, subjects with USH3 might be misdiagnosed as either Usher type IB or IIA. The results from this study can be used as discriminatory features in differential diagnosis of this syndrome.     

Comparison between myringotomy and tympanostomy tubes in combination with adenoidectomy in 3-7-year-old children with otitis media with effusion

The specific aim of this study was to compare, by means of a randomized clinical trial, the efficacy between the two surgical combinations - adenoidectomy with myringotomy and tympanostomy (A + T) and adenoidectomy with myringotomy (A + M) - in reducing middle ear disease in children with otitis media with effusion (OME). Seventy-eight 3-7-year-old patients (156 ears) with a history of bilateral middle ear effusion for at least 3 months were randomly assigned to either A + T or A + M. Hearing threshold levels, recurrence rate of the effusion and episodes of acute otitis media (AOM) and otorrhea were evaluated for a follow-up period of 1 year. Audiometry testing showed that there was no statistically significant difference in the hearing loss levels of both groups during the whole follow-up period. Free of AOM episodes were 72% of the patients in the A + T group and 75% of those in the A + M group. None of the patients with A + M had episodes with otorrhea which contrasted with the 40% occurrence rate in the A + T group. During the follow-up period we documented a 10% recurrence rate of OME in the A + T group and 14% recurrence rate in the A + M group. Overall our data suggests that the insertion of tympanostomy tubes in association with adenoidectomy provides no additional benefit to adenoidectomy in association with myringotomy alone in terms of hearing loss or AOM episode occurrences in patients with bilateral otitis media with effusion. Furthermore no relationship was found between the choice of operative intervention and the recurrence rate of OME despite the slightly greater relative risk in the A + M group.     

ABR thresholds in infants born with CLP and OME and infants with OME

ObjectivesThe aim of this study was to investigate and compare auditory brainstem response (ABR) thresholds related to otitis media with effusion (OME) in infants with and without cleft palate and/or lip (CP ± L).MethodsForty-seven infants with CP ± L and 67 infants with OME participated in the study. Hearing thresholds of ears of infants with OME were compared between groups and within the group with CP ± L.ResultsInfants with CP ± L and OME presented with similar hearing thresholds as infants with OME and not CP ± L. Within the cleft group, infants with isolated cleft palate and OME demonstrated significantly higher hearing thresholds than infants with unilateral cleft lip and palate and OME.ConclusionA high prevalence of infants with CP ± L present with OME early in life. Hearing thresholds of these infants are similar to infants without CP ± L, but with OME. The ear status and hearing thresholds of infants with CP ± L needs to be monitored to be able to provide the best access to hearing in order to fully allow speech and language development.     

Mucopolysaccharidosis: Otolaryngologic findings,obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway

Objective

The aim of this study is to evaluate otolaryngologic problems (upper airway obstruction, obstructive sleep apnea, restriction of mouth opening, middle ear effusion, hearing and breathing problems) and their treatments on mucopolysaccharidoses (MPS) patients and to investigate accumulation of glucosaminoglycans (GAG) in the upper airway biochemically and pathologically.

Methods

76 MPS patients were evaluated. Forty-two MPS patients underwent polysomnography (PSG) for obstructive sleep apnea (OSA). Pre- and postoperative PSG results of 18 patients were compared. The success and complications of treatments for OSA in MPS were evaluated. Biochemical and histopathological accumulation of GAG in tonsil and adenoid tissue and middle ear effusion were analyzed and compared with the control group.

Results

Forty patients out of 42 tested with PSG had OSA (95%). Adenoid grade, Mallampati grade, restricted mouth opening, rate of difficult intubation were significantly different among MPS subtypes. MPS types III and IV had significantly lower Mallampati scores; type VI had significantly worse mouth opening; and type III had significantly better mouth opening and higher rate of easy intubation when compared to other MPS types. There was no significant difference between MPS subtypes according to tonsil grade, adenoid grade, rate of otitis media with effusion and OSA severity. Statistically significant difference was found between GAG accumulation in adenoid tissue and middle ear effusion of MPS and control group (p < 0.05). However, GAG accumulation in tonsil was not significantly different between MPS and control group. There was a statistically significant improvement in postop Apnea–Hypopnea Index (AHI) compared to preop AHI (p < 0.05).

Conclusions

Most MPS patients have airway obstruction and OSA due to adenotonsillar hypertrophy. Most of these children benefit from adenotonsillectomy, after which OSA significantly improves. They experience high recurrence rate after adenoidectomy; though this is not clinically problematic. They also suffer from conductive hearing loss due to OME, which has to be treated with ventilation tube insertion. However, such operations are usually complicated by difficult endotracheal intubation and restricted mouth opening. Sometimes tracheotomy may be necessary. Tracheotomy is also highly complicated in MPS patients. Significant accumulation of GAG in middle ear fluid and adenoid tissue is present; however, GAG appears not to accumulate in tonsillar tissue.     

Long-term follow-up of otitis media with effusion in children: Comparisons between a ventilation tube group and a non-ventilation tube group

Objective

The objective of this study was to investigate the long-term outcomes in children with otitis media with effusion who received either medical treatment or ventilation tubes.

Methods

We retrospectively analyzed the medical records of 89 bilateral cases of otitis media with effusion in children who were recommended to receive ventilation tube insertion and were followed up for more than 5 years. Tympanic membrane was inspected by otoscopic examination. Hearing was evaluated with pure tone audiometry. The mean duration of follow-up was 8.4 years (range, 5.2–15.7 years). Twenty-three children were treated without surgery, while 22 were treated once by ventilation tube insertion and 44 were treated more than once by ventilation tube insertion.

Results

At the fifth year of follow-up, both groups of children who underwent ventilation tube insertion had more frequent tympanic membrane abnormalities than the medication group (8.7% in those treated without surgery, 72.7% in those treated once by ventilation tube insertion, and 88.6% in those treated more than once by ventilation tube insertion). Common tympanic membrane abnormalities were retraction (27.0%) and tympanosclerotic plaque (23.6%), regardless of the treatment modality. At the fifth year follow-up, the average air-conduction threshold was 10.0 dB (± 6.5 dB) in patients treated without surgery, 15.9 dB (± 11.2 dB) in patients treated once by ventilation tube insertion, and 17.8 dB (± 7.6 dB) in those treated more than once by ventilation tube insertion. The audiological difference was significant when we compared the hearing level of children treated by medication without surgery to the two ventilation tube groups.

Conclusion

Though ventilation tube insertion can resolve hearing loss quickly, there were more tympanic membrane abnormalities and a decline in hearing levels in our ventilation tube insertion group vs. the observation group measured 5 years later. Physicians should therefore be cautious when applying a ventilation tube in patients with otitis media with effusion and should explain the risks to patients who are a candidate for repeated ventilation tube insertion.