Enrico Martines

Risk factors for otitis media with effusion: Case–control study in Sicilian schoolchildren

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), mothers 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, mothers work status, smoking parents and birth history. Moreover on multivariate logistic regression analysis it resulted that age, positive URTIs 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.

The Jervell and Lange-Nielsen Syndrome

Deafness and electrocardiographic changes (prolongation of the Q-T interval and inversion of the T wave) with a clinical picture of syncopal attacks and sudden death, were described as a distinct syndrome by Jervell and Lange-Nielsen in 1957. The syndrome is inherited as an autosomal recessive trait. In this study, all the cases reported since 1957 and their proposed prevalence are reviewed. The authors describe the 4 cases they have studied, all of which presented congenital sensorineural hearing loss and electrocardiographic changes characteristic of the syndrome. The relatively high number of cases they have encountered casts doubt on literature that states that the syndrome occurs more frequently in Northern-European populations. Consequently, it is advisable to perform an electrocardiogram in all children affected by congenital deafness.

Audiologic profile of infants at risk: Experience of a Western Sicily tertiary care centre

OBJECTIVE To identify the incidence of sensorineural hearing loss (SNHL) on infant at risk and to classify the degree and type of hearing loss describing the main causes associated in Western Sicily. To compare single TEOAE and combined TEOAE/ABR techniques studying the referral rate, the false-positive and false-negative rates through concordance test (κ coefficient), sensitivity (TPR) and specificity (TNR) for each protocol. METHODS From January 2010 to June 2011, 412 infants at risk, ranging from 4 to 20 weeks of life, transferred to Audiology Department of Palermo from the births centers of Western Sicily, underwent to audiological assessment with TEOAE, tympanometry and ABR. The following risk factors were studied: family history of SNHL, consanguinity, low birth weight, prematurity, cranio-facial abnormality and syndromes associated to SNHL, respiratory distress, intensive care in excess of 5 days (NICU), pregnant maternal diseases, perinatal sepsis or meningitis, hyperbilirubinemia, ototoxic drugs administration. RESULTS Forty-seven infants (11.41%) were diagnosed with SNHL; median corrected age at final audiological diagnosis was 12 weeks. SNHL resulted moderate in 44.68%, severe in 10.64% and profound in 21 cases with a significant difference in family history and NICU infants (p<0.0001). As the number of coexisting risk factors increases, the percentage value of SNHL in infants (χ(2)=12.31, p=0.01, r(2)=0.98) and the degree of hearing loss (χ(2)=13.40, p=0.0095, r=0.92) also increase. The study of single TEOAE and combined TEOAE/ABR showed a statistical difference (χ(2)=14.89, p<0.001) with a low concordance value (κ=0.87) confirming the importance of combined techniques for NICU group (κ=0.86) where four cases (0.97%) of auditory neuropathy were diagnosed. CONCLUSION This study demonstrates the necessity to implement a neonatal hearing screening program in Western Sicily because of the high percentage of SNHL in infants at risk. Family history of HL is an independent significant risk factor for SNHL easily diagnosed through single TEOAE technique. Combined TEOAE/ABR is the gold standard for NICU babies which are at risk for auditory neuropathy. Coexisting risk factors are an additional risk factor for HL.

Otitis media with effusion with or without atopy: audiological findings on primary schoolchildren

OBJECTIVE The objective of the study was to evaluate the role of atopy in otitis media with effusion (OME) in children attending primary school, focusing on the audiometric and tympanometric measurements among atopic and nonatopic subjects suffering from OME. MATERIALS AND METHODS Three hundred ten children (5-6 years old) were screened in Western Sicily by skin tests and divided into atopics (G1) and nonatopics (G2). The samples were evaluated for OME by pneumatic otoscopy, tympanogram, and acoustic reflex tests. The parameters considered were as follows: documented persistent middle ear effusion by otoscopic examination for a minimum of 3 months, presence of B or C tympanogram, absence of ipsilateral acoustic reflex, and a conductive hearing loss greater than 25 dB at any one of the frequencies from 250 Hz through 4 kHz. RESULTS The overall prevalence rate of OME was 12.9% (42.85% for G1 and 6.30% for G2, odds ratio = 11.16); OME was bilateral in 28 children (70%). B tympanogram was evidenced in 48 ears (70.59%), with a significative difference between G1 and G2 (P < .001). The analysis of mean air conduction pure tone (31.97 dB for G1 and 29.8 dB for G2) and of tympanometric measurements such as ear canal volume, tympanometric peak pressure, and static compliance by analysis of variance test showed a significative difference between G1 and G2 (P < .05). CONCLUSIONS The higher prevalence of OME in atopic children and the statistically significant differences in audiometric and tympanometric measurements among atopic and nonatopic subjects suffering from OME suggest the important role of allergy in the genesis and recurrence of OME.

Sudden Sensorineural Hearing Loss as Prodromal Symptom of Anterior Inferior Cerebellar Artery Infarction

Sudden sensorineural hearing loss is a clinical condition characterized by a sudden onset of unilateral or bilateral hearing loss. In recent years sudden deafness has been frequently described in association with anterior inferior cerebellar artery (AICA) infarction generally presenting along with other brainstem and cerebellar signs such as ataxia, dysmetria and peripheral facial palsy. The authors report a rare clinical case of a 53-year-old man who suddenly developed hearing loss and tinnitus without any brainstem or cerebellar signs. Computed tomography of his brain was normal, and the audiological results localized the lesion causing deafness to the inner ear. Surprisingly, magnetic resonance imaging showed an ischemic infarct in the right AICA territory. This case represents the fifth in the literature to date but it confirms that AICA occlusion can cause sudden deafness even without brainstem or cerebellar signs. Therefore, we recommend submitting the patient for neuroimaging, as an emergency, in order to exclude infarction of the AICA territory. By doing this, it may be possible to limit the extent of the lesion by commencing early therapy.

Prelingual sensorineural hearing loss and infants at risk: Western Sicily report

OBJECTIVE To evaluate independent etiologic factor associated with sensorineural hearing loss (SNHL) in newborn at risk; to study the role of their interaction especially in NICU infants who present often multiple risk factors for SNHL. METHODS The main risk factors for SNHL reported by JCIH 2007 were evaluated on 508 infant at risk ranging from 4 to 20 weeks of life, transferred to the Audiology Department of Palermo from the main births centers of Western Sicily. After a global audiological assessment, performed with TEOAE, tympanometry and ABR, the prevalence and the effect of risk factors was statistically studied through univariate and multivariate analysis on the total population (normal and deaf subjects). RESULTS Fifty-one infants (10.03%) were diagnosed with SNHL (45 bilateral and 6 monolateral) with a mean hearing threshold of 87.39 ± 28.25 dB HL; from logistic regression analysis family history of hearing impairment (HI) and TORCH infections resulted independent significant risk factors (P<0.00001 and P=0.024 respectively). High SNHL percentages were evidenced also in NICU babies, due to the various pathologies and risk factors presented by these infants, and among newborns who suffered from hyperbilirubinemia requiring exchange transfusion (11.97% and 9.52% respectively). Craniofacial abnormalities (CFA) and syndromes associated to HI showed an important relationship (P<0.00001) with conductive hearing loss (CHL). Multiple regression analysis of the variation in SNHL among NICU infants evidenced an increased risk for SNHL of 21.24% and of 19.33% respectively in preterm infants and in case of hyperbilirubinemia if respiratory distress is concomitant with these risk factors. It was also observed an higher risk of SNHL (99.66%) in case of coexistence of prematurity and hyperbilirubinemia. Finally among infants with very low birth weight (VLBW) it was evidenced a statistically difference between the mean weight of SNHL infants respect to NHL newborns (P=0.048). CONCLUSION The high SNHL prevalence (10.03%) in our cohort underlines how infants at risk are more susceptible to suffer from SNHL; in particular NICU newborns have a 33% greater chance of developing SNHL, because of the presence of multiple risk factors (or=1.33) and their interaction. As the number of coexisting risk factors increases, the prevalence of SNHL also increases (r(2)=0.93).

Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss

Abstract Objective: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 102 Sicilian NSHL patients. Results: Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutations were found. The hearing impairment was profound in the 64.72% of probands (mean PTA0.25–4 kHz of 88.82 ± 26.52 dB HL). A total of 81.37% of patients harboured at least one c.35delG allele; c.167delT and c.-23 + 1G> A were identified in 10.78% and the 9.8% of patients respectively; c.35delG homozygotes presented more severe hearing impairment (75.59% of profound hearing loss) and a higher mean PTA0.25–4 kHz (96.79 ± 21.11 dB HL) with respect to c.35delG/non-c.35delG and c.35delG/Wt patients (P < 0.05). Conclusions: This work underlines the role of c.35delG, c.167delT and c.-23 + 1G> A as the most frequent causes of NSHL in Sicily. The c.35delG frequency found is similar to those reported in other populations of the Mediterranean area. The analysis of genetic and audiologic data confirmed a variability in the phenotype associated to a single genotype.

Essential of audiology: screening and post-screening

Newborn hearing screening is a type of screening testfor the early detection of hearing loss. It can recognizewith good accuracy newborns affected by hearingimpairment allowing an early diagnosis and interventionand avoiding cognitive and linguistic deficits [1-6].The incidence of bilateral sensorineural hearing loss(SNHL) in Sicily is 2.35 cases per 1000 newborns; thisvalue increases to 2.95 if we consider also unilateral SNHL[2,3] and to 10 cases per 1000 births among infants at risk[7-9].A correct newborn hearing screening programme isbased on different protocols depending on the presence/absence of audiologic risk factors:† Newborns without risk factors: [1-3]Initial Hearing Screening (Step I):The initialscreening should be performed using Transient-Evoked Otoacoustic Emissions (TEOAEs) in the birthcenters as close to discharge as possible, preferably 12hours or more after birth. It is recommended that aninfant be referred for a re-screening (step 2) if s/hedoes not pass the initial screening or results cannot beobtained in one or both ears.Re-screening (Step II):The re-screening should beperformed in a second level center using TEOAEs andAutomated Auditory Brainstem Response (AABR). Ifan infant does not pass the re-screening or if resultscannot be obtained in one or both ears, s/he shall bereferred to the regional third level center for diagnosticaudiological evaluation.† Newborns with risk factors (JCIH 2007) [7-10]Initial Hearing Screening (Step I): The Initial Hear-ing Screening should be performed in a second levelcenter using TEOAEs and AABR. If an infant does notpass the initial screening or if results cannot beobtained in one or both ears, s/he shall be referred tothe regional third level center for diagnostic audiologi-cal evaluation.Screening variablesActually TEOAEs have a sensitivity of 100% and a specifi-city of about 70-95%. A higher TEOAEs specificity valuedepends on [1,2,11]:† Timing of TEOAEs recording† Trained and qualified personnel† PASS/REFER criteriaLimitations of screeningAudiologic screening does not identify:† Post-natal SNHL (prelingual or perilingual) ,mainly related to genetic causes [12,13]† ANSD (Auditory Neuropathy Spectrum Disorder):the main risk factors associated to ANSD are severejaundice, prematurity, respiratory distress, ototoxicdrugs (used to treat neonatal infections), genetic muta-tions (e.g. OTOF gene). The diagnosis of ANSD isusually based on the combination of absent or abnor-mal ABR with normal TEOAESs and/or cochlearmicrophonics (CM) [14].