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1.

Objectives

Most children suffer from otitis media with effusion (OME) before starting school. Insertion of grommets into the eardrum for treatment of OME is one of the most common operations performed in childhood. The efficiency and compliance of treatment with a new non-invasive device was evaluated in children with bilateral OME with disease duration of at least 3 months.

Methods

A device for autoinflation was developed to enable a combined modified Valsalva and Politzer maneuver. Ten children, aged 3–8 years (mean: 5 years and 2 months) with OME tested the device for estimation of its ability to ventilate the middle ear. Another thirty-one children, with persistent bilateral OME for at least three months, were divided into a treatment and a control group. Twenty-one children (42 ears), aged 2–7 year (mean: 4 years and 6 months), participated as the treatment group and ten patients (20 ears), aged 3–7 years (mean: 4 years and 5 months), were included as controls. Tympanometry and otomicroscopy were performed at inclusion and at the end of the study.

Results

In the treatment group the middle ear pressure was normalized in 52% and improved in 31% of the ears with 7 children (33%) achieving bilateral and 8 (38%) unilateral normalization. In the control group the middle ear pressure was normalized in 15%, improved in 15% and deteriorated in 10% of the ears with one child (10%) achieving bilateral and one child (10%) unilateral normalization. Statistically significant differences (p < 0.001) were observed in the pressure difference and the tympanometry type changes between the treatment and the control group. Otomicroscopic examination revealed that the number of ears judged as OME was reduced by 62% in the treatment group in comparison with 20% in the control group. All children managed to perform the maneuver and no side effects were neither reported nor detected.

Conclusions

The device was efficient in ventilation of the middle ear with normalization or improvement of the negative middle ear pressure and otomicroscopic findings in young children with persistent OME.  相似文献   

2.

Objective

The aim of the present study was to evaluate the role of the different forms of chronic rhinitis in the pathogenesis of otitis media with effusion in children affected by obstructive adenoid hypertrophy.

Methods

81 patients, aged between 4 and 15 years (mean age of 6.9 years), affected by obstructive adenoid hypertrophy were evaluated. All patients underwent accurate history taking, physical examination with endoscopy of the nasopharynx, skin prick test, nasal cytology and hearing evaluation.

Results

Nasal citology showed that 21% of patients had a non-allergic rhinitis (NAR) subtype, 17.4% NAR overlapping with infectious rhinitis (IR), 29.6% IR, 4.9% allergic rhinitis (AR), 2.5% AR overlapping with IR and the remaining 24.6% a negative cytology. The presence of OME was positively correlated with neutrophils (p = 0.01) and mast cells (p = 0.022), while it was negatively correlated with the presence of eosinophils (p = 0.02) and bacteria (p = 0.02).

Conclusions

A chronic rhinitis was present in more than 70% of children with AH and 60% of them showed OME. Nasal cytology together with SPT showed that AR was rarely present in this group of children, while the mast-cells and neutrophils positively correlated with OME.  相似文献   

3.

Objective

Otitis media with effusion (OME) is a condition of uncertain aetiology seen in paediatric practice. It has important sequelae that can result in significant morbidity. Worldwide documentation of OME prevalence in older children is poor as OME is traditionally seen in children below the age of 6 years. Available research in Nepal reports a prevalence of OME in children between the ages of 3 and 8 years as high as 27%. This study aims to establish a reliable prevalence of OME in children between the ages of 9 and 16 years in order to inform public health policy and target limited resources.

Methods

This cross-sectional study was undertaken in Pokhara, Nepal. Two different school populations were examined, government and non-government. Children in these schools between 9 and 16 years underwent clinical assessment for OME with otoscopy and tympanometry. Demographic data were also collected to identify potential OME risk factors. For each school population the prevalence of unilateral, bilateral and all case OME was calculated as percentages with 95% confidence intervals.

Results

A total of 494 children were recruited in this study (government = 187, non-government = 307). Fourteen were excluded due to impacted cerumen or other ENT pathology making it very difficult to conduct a clinical assessment. In the combined school populations the point prevalence of OME was 12.9%. The peak prevalence of OME was found in children aged 10 years (23.1%). A higher point prevalence of OME was found in the non-government school population than the government school (government = 9.3%, non-government = 15.0%). This difference was not statistically significant (χ2 = 3.209, df = 1, p = 0.073). Age was found to be significant predictor of OME.

Conclusions

Contrary to its established natural history OME has been found to be widespread in older children in Nepal. No significant predictors of OME were established and rates did not vary significantly between school types. Studies need to be conducted in a larger population to investigate this further. To fully assess disease burden of OME amongst children in Nepal, prevalence in children not regularly attending schools also needs investigation.  相似文献   

4.

Objective

To determine the impact of environmental, epidemiologic and familial factors in the development of persistent otitis media with effusion (OME-OME treated with antibiotics and followed additional 12 weeks) in primary school children in Istanbul.

Materials and methods

A total of 1800 children who were attending 4 different primary schools in Sisli and Beyoglu districts of Istanbul were screened and 1740 children who met the inclusion criteria were enrolled into this study. Questionnaires prepared in the Otorhinolaryngology Clinics of Taksim Research and Training Hospital and the forms were delivered to the parents to be filled the day before examination of each child. The forms were collected during the otoscopic examinations. Pure tone audiometry and tympanometry tests and pneumatic otoscopy were performed on the children who were diagnosed as OME by otoscopic examination. The association between the children diagnosed as OME and the answers to the questionnaires was evaluated.

Results

The prevalence of persistent OME in this paper was 8.7% (152/1740). Frequency of smoking in both parents (p < 0.01) and mothers alone (p < 0.0001), the frequency of acute otitis media (AOM) and upper respiratory tract infection (URTI) in past 1 year (p < 0.0001), incidence of attending day care centers and crèches (p < 0.0001), allergy history (p < 0.05), the number of siblings (p < 0.0001) and poor educational status of the parents (p < 0001) were statistically significant factors among children with OME compared to normal children. Sex factors (p > 0.05), mothers smoke history during pregnancy (p > 0.05), relative marriage (p > 0.05), smoking history of the fathers (p > 0.05) and duration of breastfeeding (p > 0.05) were not statistically significant.

Conclusion

Environmental, epidemiologic and familial factors in the etiology of OME are important. The parents must be informed about the risk factors and symptoms of OME and by this way, the development or delayed diagnosis of the disease that may lead to permanent hearing loss may be prevented.  相似文献   

5.

Objectives

The aims of the present study were to evaluate the efficacy of and compliance with a new device for autoinflation in the treatment of persistent otitis media with effusion (OME) in young children.

Methods

Forty-five children with persistent OME with a bilateral type B or C2 tympanogram for at least three months and history of subjective hearing loss, waiting for grommet surgery, were randomised to a treatment and a control group. Twenty-three children aged between three and eight years started as the treatment group with the new device for autoinflation. Another 22 children, aged between two and eight years were included as controls. After a period of four weeks, a cross-over was performed. Both groups underwent otomicroscopy, tympanometry and audiometry at inclusion and after one and two months for the evaluation of treatment efficiency. The primary outcome measurements were improvement in middle-ear pressure and hearing thresholds at eight weeks. Both groups were then followed up for another 10 months.

Results

In the treatment group, the mean middle-ear pressure for both ears and the mean hearing thresholds for the best ear improved by 166 daPa (p < 0.0001) and 6 dB (p < 0.0001), respectively after four weeks, while in the control group, non-significant alterations were observed. After the cross-over of the control group to treatment, equivalent improvements in the mean middle-ear pressure and the mean hearing thresholds of 187 daPa (p < 0.0001) and 7 dB (p < 0.01), respectively were achieved also in this group. After treatment in both groups at eight weeks, four of 45 children were submitted to grommet surgery. During the long-term follow-up another five children were submitted to surgery due to recurrence of disease. All the children managed to perform the manoeuvre and no side-effects were detected.

Conclusion

The device demonstrated efficiency in improving both middle-ear pressure and hearing thresholds in most children after four weeks of treatment. It might therefore be possible to consider this method of autoinflation in children with persistent OME during the watchful waiting period.  相似文献   

6.
7.

Objectives

Human bocavirus (HBoV) is frequently identified in children with respiratory tract infections, and its role in acute otitis media (AOM) has been suggested. The disease associations for the closely related bocaviruses HBoV2-4 remain unknown. Increasing evidence shows that probiotics may reduce the risk of AOM of viral origin. Objectives of the study was to examine the prevalence and persistence of bocaviruses in consecutive nasopharyngeal samples (NPS) of otitis-prone children, and whether an association exists between HBoV and the child's characteristics, respiratory symptoms, and AOM pathogens, and whether probiotics reduce the occurrence of HBoV.

Methods

In a double-blind, placebo-controlled, randomized, 6-month intervention study, 269 otitis-prone children (aged 9 months to 5.6 years), consumed daily either one capsule of probiotics (Lactobacillus rhamnosus GG, L. rhamnosus Lc705, Bifidobacterium breve 99 and Propionibacterium freudenreichii JS) or placebo. After a clinical examination and NPS collected at three-time points, the presence and persistence of HBoV1-4 DNA in NPS was determined by RT-qPCR at the baseline, after 3, and 6 months.

Results

A high load (>10,000 copies/ml) of HBoV DNA was detected in 26 (17.1%) of 152 children, and 16 (10.5%) showed a prolonged presence of HBoV for at least 3 months. None had DNA of HBoV2-4. Higher number of siblings associated with increased HBoV prevalence (p = 0.029). Prevalence or persistence of HBoV was not significantly associated with other characteristics, respiratory symptoms, or AOM pathogens. Probiotic intervention significantly reduced the number of HBoV DNA-positive samples (probiotic vs. placebo: 6.4% vs. 19.0%, OR = 0.25, CI 95% = 0.07-0.94, p = 0.039).

Conclusions

HBoV, but not HBoV2-4, DNA occurs often in the nasopharynx of otitis-prone children, and may persist for 3-6 months. Probiotic treatment possibly reduced the presence of HBoV.  相似文献   

8.
9.

Background

Because the microbiology and susceptibility patterns of middle ear fluid pathogens in children with otitis media change over time, an active surveillance is recommended to establish appropriate therapeutic guidelines.

Objective

To analyze the microbiology and susceptibility pattern of middle ear pathogens obtained from Costa Rican children with acute otitis media (AOM), recurrent otitis media (ROM) and therapeutic failure otitis media (OMTF) between 2002 and 2007.

Patients and methods

1108 children aged 2-92 months who participated in various otitis media clinical trials between the years 2002 and 2007.

Results

Among the study population, 880 were children with AOM (61% <24 months of age), 138 were children with ROM (54% <24 months of age) and 90 were children with OMTF (67% <24 months of age). Bilateral otitis media was more frequent in children with OMTF (44%) than in children with AOM (37%) (P = 0.19) and ROM (27%) (P = 0.009). Presence of siblings <8 years of age was more frequently observed in children with OMTF (73%) than in children with ROM (65%) (P = 0.0001) and AOM (47%) (P = 0.000002). Overall Streptococcus pneumoniae (44%) was the most common pathogen isolated followed by Haemophilus influenzae (37%), Moraxella catarrhalis (11%) and Streptococcus pyogenes (4%). S. pneumoniae was the most common pathogen in AOM (44%) and ROM (47%), however, H. influenzae was the most common pathogen in OMTF (40%). Among all H. influenzae, an increase in the number of β-lactamase producing strains was observed from 5.2% in 2001 to 14% (P = 0.04) in 2007 and this was associated with an increase in the use of amoxicillin. An increase in the number of M. catarrhalis was also observed, from 3% (9/350) in 2001 to 11% (71/628) (P = 0.000003) in 2007. During the study period the incidence of penicillin non-susceptible S. pneumoniae was 42/211 (20%) in children with AOM; 5/35 (17%) in children with ROM and 5/17 (42%) in children with OMTF. M. catarrhalis cases increased from 8% in 2004 to 17% in 2007 (P = 0.0005) and S. pyogenes decreased from 7% in 2002-2004 to 1% in 2005-2007 (P = 0.001).

Conclusions

In Costa Rica, S. pneumoniae remains the most common pathogen in children with AOM and ROM whereas non-typable H. influenzae remains the most common pathogen in children with OMTF. A significant increase in the number of β-lactamase positive H. influenzae and M. catarrhalis has been observed in recent years.  相似文献   

10.

Objective

To identify the prevalence and demographic, maternal and child risk factors for otitis media with effusion (OME) in Sicilian schoolchildren and analyse the results with reference to the review of the literature.

Methods

Associations of possible risk factors with prevalence of otitis media with effusion (OME) were studied in a cohort of 2097 children, aged 5-14 years. In order to determine OME, otoscopy and tympanometry were performed at 3-monthly intervals beginning at term date. Sixteen epidemiologically relevant features were inventoried by means of standardized questionnaires and skin tests were performed. Univariate analysis was performed to examine the association between determinants and occurrence of OME; multivariate logistic regression analysis was made to investigate the joint effect of atopy and other determinants on OME.

Results

Prevalence of OME resulted 6.8% (143/2097) and it was most strongly associated with atopy (P < 0.0001; or = 12.67; 95% CI = 8.78-18.27). Other factors significantly associated with the prevalence of OME were snoring (P < 0.0001), previous history of acute otitis media (P < 0.001) and of recurrent URTIs (P < 0.0001), mother's no schooling (P = 0.01) and no breastfeed (P = 0.05). No significance was found for school type, economic status of the family, family size, family history of presence of allergy and of ear disease, mother's work status, smoking parents and birth history. Moreover on multivariate logistic regression analysis it resulted that age, positive URTI's history and smoking exposure were found to be significant (P < 0.0001).

Conclusions

OME during infancy is a common and multifactorial disease; as most of the risk factors associated with its etiology and pathogenesis, are modifiable, their modification should represent the reasonable primary care intervention leading to a decrease in OME prevalence.  相似文献   

11.

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.  相似文献   

12.

Objective

We sought to evaluate the clinical role of pepsin for laryngopharyngeal reflux (LPR) in children with otitis media with effusion (OME).

Methods

Pepsin/pepsinogen and fibrinogen were analyzed in fifty effusion and blood samples of children with OME using enzyme linked immunosorbent assay (ELISA). Ambulatory 24-h dual-probe pH monitoring was additionally performed in 31 children divided into two groups according to response of medical treatment.

Results

The effusion levels of pepsin/pepsinogen ranged from 8.5 to 1512 μg/dl and were up to 4–540 times higher than the concentrations found in plasma samples. The effusion levels of fibrinogen ranged from 0.05 to 4.1 g/dl. Some effusion samples showed fibrinogen concentrations did not exceed 10 times higher than the concentrations found in plasma samples and others showed lower concentrations. The pH of effusion samples was 7.13 to 8.72. Dual-probe pH monitoring showed that 22/31 (71%) of the studied children had significant acid reflux documented by either the esophageal probe or the pharyngeal probe and all of them had LPR. There is a significant positive correlation between the level of pepsin assayed in the effusions and the number of pharyngeal reflux episodes measured by pH monitoring.

Conclusions

Analysis of pepsin/pepsinogen in effusion samples of children with OME, using ELISA, can be considered as a reliable biochemical marker for assessment of laryngopharyngeal reflux.  相似文献   

13.

Objectives

Pattern recognition receptors (PRRs) induce appropriate immune responses after recognizing certain molecular characteristics of pathogens. It is not known, however, whether PRRs are expressed in middle ear infections and whether the expression of PRRs and immunoglobulins is correlated in recurrent otitis media with effusion (OME). We therefore investigated the expression of PRRs and immunoglobulins in children with OME.

Materials and methods

The study population consisted of 66 children with OME, of whom 27 had more than 4 episodes in 12 months or more than 3 episodes in 6 months (otitis-prone group), and 39 had fewer than 4 episodes in 12 months or 3 episodes in 6 months (non-otitis-prone group). The expression in middle ear effusion of Toll-like receptor (TLR)-9, nucleotide-binding oligomerization domain (NOD)-1, NOD-2, and retinoic acid-inducible gene (RIG)-I mRNA, as determined by real-time PCR, and the concentrations of IgG, IgA, and IgM, as determined by ELISA, were compared between the two groups.

Results

The levels of TLR-9, NOD-1 and RIG I mRNAs were significantly lower in the otitis-prone than in the non-otitis-prone group (p < 0.05 each). The concentrations of IgG, IgA and IgM in effusion fluid did not differ significantly between the two groups (p > 0.05), and there were no correlations between immunoglobulin concentration and the expression of PRPs (p > 0.05).

Conclusions

Decreased expression of PRRs may be associated with increased susceptibility to OME.  相似文献   

14.
15.

Objective

The incidence rate of recurrence of otitis media with effusion (OME) in children after tympanostomy tube extrusion and the relationship between recurrence and tube retention time was investigated. Also relationship between recurrence rate and initial age of tube insertion was analysed.

Study Design

A retrospective case series of patients who had tympanostomy tube insertion.

Methods

A total of 91 children (169 ears) were reviewed. Ears of children divided into three groups according to retention time of tympanostomy tubes. Group I: tympanostomy tube retention time less than 6 months. Group II: tympanostomy tube retention time 6 months to 12 months. Group III: tympanostomy tube retention time 12 months or more.

Results

OME recurrence rate after tube extrusion was 20.7% in the study. The longer the tympanostomy tube retention time was the lower was the recurrence rate of OME. The comparison of the three groups indicated that recurrence rates were higher in group I (36.54%), than in group II (17.74%) and in group III (9.1%). There were statistically significant differences in recurrence rates between group I and group III, and between group I and II (p < 0.05, p < 0.05). However, the difference in recurrence rates between group II and group III was statistically not significant (p > 0.05). In the preschool age group and school age group, the recurrence rates were 5.5% and 15.4%, respectively. There was no significant difference between these two groups (p > 0.05). OME recurrence was observed in 9.9% of males and in 11% of females. There was no significant difference in recurrence rates between males and females (p > 0.05).

Conclusion

After extrusion of tympanostomy tube, children should be followed-up regularly for recurrence of OME. The shorter the retention time of tympanostomy tubes was the higher was the recurrence rate. For the treatment of OME the ideal type of tubes should have the lowest complication and recurrence rates. Further studies are needed to ascertain the relationship between the incidence of OME and optimal tympanostomy tubes duration of tube stay in tympanic membrane. Therefore, new studies with larger series are necessary to investigate the correlation between the recurrence rates and different tympanostomy tubes after extrusion of tubes.  相似文献   

16.

Background

Tonsillectomy is a common surgical intervention in children, but its efficacy is under debate. We studied whether tonsillectomy is a cost-effective intervention with a positive impact on health-related quality of life (HRQoL).

Methods

Children (aged 7–11 years) and adolescents (aged 12–15 years) undergoing tonsillectomy answered the 17D or 16D HRQoL questionnaires before tonsillectomy and at 6 and 12 months postoperatively. At the same time-points, data on the use of healthcare services and school absenteeism were collected by questionnaire.

Results

Altogether 49 children and 42 adolescents returned all HRQoL questionnaires. Tonsillectomy improved the mean total HRQoL score clinically and statistically significantly in both children (from 0.935 at baseline to 0.958 at 12 months, p = 0.002) and adolescents (from 0.930 to 0.957, p = 0.004). The mean direct self-reported healthcare service costs diminished after tonsillectomy in both groups. The mean number of days on sick leave due to oropharyngeal problems during the preceding 3 months decreased from the preoperative 4.6 days to postoperative 0.5 days (p < 0.001) in children, and from 4.9 days to 0.8 days (p < 0.001) in adolescents at 12 months.

Conclusions

Tonsillectomy improves HRQoL in both school-aged children and adolescents and reduces healthcare service needs and school absenteeism due to oropharyngeal symptoms.  相似文献   

17.

Objective

This was to determine the prevalence of acute otitis media in children with pyrexia in an area with malaria endemicity and also the relevance of socio-economic factors on AOM.

Methods

This prospective study was conducted between January 2004 and June 2005 at the emergency paediatric unit of the hospital among children aged 0–15 years presenting with pyrexia. All the children had full ENT examinations in addition to the evaluation by the emergency paediatricians. Diagnosis of AOM was based on history, examinations and otoscopic findings.

Results

Two-hundred children with pyrexia were seen and the age range was 3 months to 15 years (mean 4.73). The male/female ratio was 1.7:1.03 years; 32 had features of AOM. Two third of the children were from the low socio-economic class.

Conclusion

AOM with late presentation in the suppurative stage of the disease is a common cause of pyrexia in children with a male preponderance and two third of the children were from the low socio-economic status. There is the need for otoscopic examinations of all pyretic children as the resultant hearing loss is related to difficulties in language acquisition in children below 2 years of age with effects on literacy and school achievement.  相似文献   

18.

Objective

Otitis media with effusion (OME) is one of the commonest causes of acquired hearing loss in children with increasing incidence. In young children the diagnosis is restricted to clinical trials and tympanometry whereas evaluation of the auditory function is impossible due to noncompliance during pure tone audiometry. For this purpose, measurement of otoacoustic emissions, especially transient evoked ones (TEOAE), can be applied. The aim of this study is to evaluate the parameters of TEOAE in young children with OME prior and after surgery.

Methods

Prospective study included 50 children with OME, both sexes, aged 2–5 years. Preoperatively tympanometric examination was performed and TEOAE were recorded. Surgery was performed under general anesthesia and included myringotomy with/without ventilation tube insertion. Measurements of TEOAEs (correlation percentage, signal to noise ratio and amplitude) were repeated on the first and six day postoperatively as well as 6 weeks and 6 months postoperatively.

Results

The preoperative TEOAEs were not recorded in 93.5%, with values of all TEOAE parameters being the most affected on highest frequencies. Significant changes of all TEOAE parameters were found 6 weeks postoperatively with further improvement 6 months postoperatively. Statistically highly significant difference of TEOAE between examinees with and without inserted ventilation tubes was established only in regard to preoperative results.

Conclusion

In small children with OME, application of TEOAEs in follow-up of surgical effects is a method of choice for hearing screening due to its objectivity, simplicity and ease of use even after insertion of ventilation tubes. Follow-ups of TEOAE correlation percentage and signal to noise ratio reflect the condition earlier than follow-ups of TEOAE amplitude.  相似文献   

19.

Objective

To compare the efficacy of three surgical treatment combinations - myringotomy and tympanostomy tube insertion (M&T), adenoidectomy with M&T (A-M&T), and adenoidectomy with myringotomy (A-M) - in reducing middle-ear disease in young children with chronic OME.

Methods

Children 24-47 months of age, with a history of bilateral middle-ear effusion (MEE) for at least 3 months, unilateral for 6 months or longer or unilateral for 3 months after extrusion of a tympanostomy tube, unresponsive to recent antibiotic, were randomly assigned to either M&T, A-M&T, or A-M. Treatment assignment was stratified by age (24-35 months, 36-47 months), nasal obstruction (no, yes) and previous history of M&T (no, yes). Subjects were followed monthly and with any signs or symptoms of ear disease for up to 36 months.

Results

Ninety-eight subjects were randomly assigned to the three treatment groups. Fifty-six subjects (57%) were 24-35 months of age; 63% had nasal obstruction, and 36% had previously undergone M&T. During the 36 months after entry, subjects were noted to have MEE for the following percentages of time: 18.6% in the M&T group, 20.6% in the A-M&T group, and 31.1% in the A-M group (M&T vs. A-M&T, p = 0.87; M&T vs. A-M, p = 0.01). By 36 months, there were no differences in the number of further surgical procedures for ear disease needed among the groups.

Conclusions

Adenoidectomy with or without tube insertion provided no advantage to young children with chronic OME in regard to time with effusion compared to tube insertion alone. Fewer tympanostomy tubes were placed in children undergoing A-M as their initial procedure, but this should be balanced by the performance of the more invasive surgical procedure and their increased time with effusion.  相似文献   

20.

Objective

Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder in which hearing loss (HL) has been reported. However, no data are available concerning the association between audiological findings, clinical severity score and genotype.

Methods

The study involved 44 pediatric patients aged 1–18 years with a confirmed diagnosis of CdLS, all of whom underwent a full otolaryngological and audiological examination. The presence of NIPBL and SMC1 mutations was also evaluated.

Results

According to the severity of clinical phenotypes, 12 (27.3%) children were mild, 15 (34.1%) were moderate and 17 (38.6%) were severe. Thirty-eight children (86%) had OME. Eight children had normal hearing, including one (12.5%) with a severe phenotype. Bilateral sensorineural hearing loss (SNHL) was diagnosed in 10 children (22.7%): the degree of HL was severe in 8 (80%), all with a severe phenotype. Conductive hearing loss (CHL) was present in 26 patients (59.1%), of whom 8 (30.8%) had a severe phenotype. A severe phenotype was more prevalent among the patients with moderate to severe HL (10/16, 62.5%) than among those with slight/mild HL or normal hearing (7/28, 25.0% p = 0.013). NIPBL mutations were detected in 22 patients (50%): 13 (59.1%) with truncating mutations, four (18.2%) with missense mutations, and five (22.7%) with splicing mutations. The frequency of NIPBL truncating mutations was similar in the children with SNHL and those with CHL, whereas this kind of mutation was not found in children with normal hearing.

Conclusion

Together with SNHL, CHL is an important cause of HL in children with CdLS, and can be associated with a severe phenotype. Moreover, CHL can be associated with NIPBL mutations, particularly truncating mutations. These results highlight the importance of the early identification of audiological problems in children with CdLS and their precise genetic characterization.  相似文献   

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