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Cytomegalovirus (CMV) is the leading infectious cause of brain defects and neurological dysfunctions, including sensorineural hearing loss (SNHL). Targeted screening in neonates failing the hearing screen is currently recommended in Italy according to national guidelines. However, SNHL may not be present at birth; also, congenital CMV (cCMV) may manifest with subtle signs other than SNHL. Therefore, the inclusion of additional criteria for cCMV screening appears clinically valuable. Starting January 2021, we have implemented expanded targeted cCMV screening at our center, with testing in case of maternal CMV infection during pregnancy, inadequate antenatal care, maternal HIV infection or immunosuppression, birthweight and/or head circumference < 10th centile, failed hearing screen, and prematurity. During the first three years of use of this program (2021-2023), 940 (12.3%) of 7651 live-born infants were tested. The most common indication was birthweight < 10th centile (n = 633, 67.3%). Eleven neonates were diagnosed as congenitally infected, for a prevalence of 1.17% (95%CI 0.48-1.86) on tested neonates and of 0.14% (95%CI 0.06-0.23) on live-born infants. None of the cCMV-infected newborns had a failed hearing screen as a testing indication. Implementation of an expanded cCMV screening program appears feasible and of clinical value.

Background: Sensorineural hearing loss has been reported as an extraintestinal manifestation of inflammatory bowel disease, especially in adult patients with ulcerative colitis. However, to date only a few series have been reported in the literature, and none from Italy. The aim of the present investigation was to assess the prevalence of symptomatic sensorineural hearing loss in Italian patients with ulcerative colitis., Methods: We retrospectively assessed the charts of all patients with ulcerative colitis who underwent otolaryngologic investigation in a 10-year period., Results: Complete charts of 57 patients were available for the observation period. Reasons for head and neck investigation were transient, mild hearing loss and sporadic vertigo. Clinical and instrumental head and neck examination was unremarkable in all but one woman who complained of mild hearing loss without vertigo or tinnitus, in whom sensorineural hearing loss was diagnosed., Conclusions: In our series, sensorineural hearing loss was found in less than 2 % of adult patients with ulcerative colitis evaluated in a department of otolaryngology. Systematic evaluation for this extraintestinal manifestation should not be carried out unless hearing loss is present.

Only few studies have focused on neurosensory hearing function of patients with congenital hypothyroidism (CH) identified by CH screening programs and treated early and, therefore, this issue remains still controversial. The aim of this study was to ascertain whether an early and adequate replacement treatment may be able to prevent sensorineural hearing loss in 32 screened children with CH and no associated risk factors for neuro-otologic alterations. These patients were recruited according to highly selective criteria aiming to preliminarily exclude the negative interference of both treatment variables and other underlying risk factors. All the selected patients underwent, at a median age of 15.4 years, an audiologic investigation, which evidenced a mild and subclinical hearing loss in 25% of them. The poorest hearing scores were recorded in the individuals with athyreosis and in those with absence of distal femur bony nucleus at CH diagnosis. The prevalence of hearing impairment was significantly higher in CH patients than in 32 age-matched control subjects with no CH (χ(2) = 6.3, p < 0.025). In light of these findings, we concluded that: a) 25% of CH patients detected by CH screening may show, at a median age of 15.4 years, a mild and subclinical hearing impairment, despite early and adequate replacement treatment; b) the risk of hearing loss is higher in CH young patients than in age-matched control subjects without CH; c) the risk of hearing loss is closely associated with the severity of CH; d) this risk is particularly relevant in the children with pre-natal onset of hypothyroidism., (Copyright © 2015 Elsevier B.V. All rights reserved.)

MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9-RD is characterized by a considerable variability in clinical evolution: patients present at birth with only thrombocytopenia, but some of them subsequently develop sensorineural deafness, cataract, and/or nephropathy often leading to end-stage renal disease (ESRD). We searched for genotype-phenotype correlations in the largest series of consecutive MYH9-RD patients collected so far (255 cases from 121 families). Association of genotypes with noncongenital features was assessed by a generalized linear regression model. The analysis defined disease evolution associated to seven different MYH9 genotypes that are responsible for 85% of MYH9-RD cases. Mutations hitting residue R702 demonstrated a complete penetrance for early-onset ESRD and deafness. The p.D1424H substitution associated with high risk of developing all the noncongenital manifestations of disease. Mutations hitting a distinct hydrophobic seam in the NMMHC-IIA head domain or substitutions at R1165 associated with high risk of deafness but low risk of nephropathy or cataract. Patients with p.E1841K, p.D1424N, and C-terminal deletions had low risk of noncongenital defects. These findings are essential to patients' clinical management and genetic counseling and are discussed in view of molecular pathogenesis of MYH9-RD., (© 2013 WILEY PERIODICALS, INC.)

Objective: The aim of this study is to examine cognitive skills, adaptive behavior, social and emotional skills in deaf children with cochlear implant (CI) compared to normal hearing children., Methods: The study included twenty children affected by profound hearing loss implanted with a CI compared to 20 healthy children matched to chronological age and gender., Results: Results of this study indicated that 55% of children with CI showed a score in the normal range of nonverbal intelligence (IQ > 84), 40% in the borderline range (71 < IQ < 84) and 5% were in mild range(50 < IQ < 70). No significant differences were found after comparison with normal hearing children.Children with CI reported more abnormalities in emotional symptoms (p = .018) and peer problems(p = .037) than children with normal hearing. Age of CI was negatively correlated with IQ (p = .002),positively correlated with emotional symptoms (p = .04) and with peer problems (p = .02)., Conclusions: CI has a positive effect on the lives of deaf children, especially if it is implanted in much earlier ages.

Hearing loss in children causes a deficit in early perceptive and language skills. The objective of this study was to evaluate early receptive and expressive language outcomes in children with hearing loss, identified by hearing screening, compared to the time of diagnosis. We studied 18 severely hearing impaired children who were divided into two groups according to the time of diagnosis. Evaluation of communicative language ability was carried out at 18 month of age using the "MacArthur Child Development Inventory" questionnaire, while evaluation of acoustic-perceptual abilities was assessed with the Genovese-Arslan protocol every three months following diagnosis. The linguistic communicative and acoustic-perceptual outcomes of hearing impaired children diagnosed before 6 months of age followed those expected for normally hearing children, with a trend of temporal progression of skills that were faster than those of children diagnosed after 6 months of age.

Aim: Sensorineural hearing loss (SNHL) is complicated by additional disabilities in about 30% of cases, but the epidemiology of associated disorders, in terms of type, frequency and aetiology is still not clearly defined. Additional disabilities in a deaf child have important consequences in assessing and choosing a therapeutic treatment, in particular when considering cochlear implantation (CI) or hearing aids (HA). The aim of this paper was to evaluate frequency, type and severity of additional neurodevelopmental disabilities in children with profound bilateral sensorineural hearing loss and to investigate the relationship between disability and the etiology of deafness., Methods: Eighty children with profound bilateral sensorineural hearing loss (mean age 5.4 years) were investigated by means of a diagnostic protocol including clinical, neurodevelopmental, and audiological procedures together with genetic and neurometabolic tests and neuroradiological investigation by brain MRI., Results: Fifty-five percent of the sample exhibited one or more disabilities in addition to deafness, with cognitive, behavioural-emotional and motor disorders being the most frequent. The risk of additional disabilities varied according to aetiology, with a higher incidence in hereditary syndromic deafness, in cases due to pre-perinatal pathology (in comparison to unknown and hereditary non syndromic forms) and in the presence of major brain abnormalities at MRI., Conclusion: Our results suggest that the aetiology of deafness may be a significant risk indicator for the presence of neuropsychiatric disorders. A multidimensional evaluation, including aetiological, neurodevelopmental and MRI investigation is needed for formulating prognosis and for planning therapeutic intervention, especially in those children candidated to cochlear implant.

Objective: Electrophysiological evaluation is a fundamental procedure for the diagnostic assessment of hearing loss during infancy; in these cases, information concerning threshold level and auditory perception is particularly useful to establish a correct hearing rehabilitation program (hearing aids and cochlear implants). Purpose of this study is to underline the role of auditory brainstem responses (ABR) and electrocochleography (EcochG) in the definition of hearing loss in a selected group of children, referred to the Audiology Department of the University Hospital of Ferrara, for a tertiary level audiological assessment., Methods: A retrospective study of the paediatric patient database at the Audiology Department of the University Hospital of Ferrara has been performed. In a period between January 2000 and December 2007, a total of 272 paediatric cases have been identified (544 ears). An EM 12 Mercury apparatus has been used for the electrophysiological threshold identification (ABR and EcochG). Recordings were carried out under general anaesthesia, in a protected enviroment., Results: In 19 of the 272 paediatric cases selected--38 ears (7%), the results of threshold evaluation through ABR were uncertain. The Ecochg recording resulted crucial for the final diagnosis in terms of definition of the hearing threshold level, and it was then possible to ensure the better hearing rehabilitation strategy., Conclusions: ABR has to be considered the first choice in hearing assessment strategy, either for screening or for diagnosis in newborns as well as in non-collaborating children; ECochG still may be considered a reliable diagnostic tool., (Copyright 2010 Elsevier Ireland Ltd. All rights reserved.)

Objective: To study the incidence of congenital sensorineural hearing loss in all newborns introducing a screen test with a protocol no expensive, with a good "screen sensitivity" that could let an earlier identification of hearing impairment beginning early intervention by 2 months of age and increasing the probability of having language development within the normal range of development., Methods: The study was conducted in Sciacca hospital from the beginning of 2003 to our days and was carried out with transient evoked otoacoustic emission using the criteria for PASS or RETEST and considering eventual prenatal and perinatal risk factors. All the newborns were divided into four groups each one with its personal secondary step program., Results: In the years 2003-2004 the number of the newborns in Sciacca hospital was: 538 for 2003, 653 for 2004 with a total of 1191; all these infants were divided in three groups: resident in Sciacca, resident in the Sciacca borderlands and resident out of the district of Sciacca. The coverage (percentage of the target population who undergo the screen) was of 90% in the 2003 (483 newborns) and of 90% in the 2004 (585 newborns) with two cases of congenital sensorineural hearing loss identified. The incidence of sensorineural hearing loss, in the District of Sciacca, was estimated to be 2.07/1000 in 2003 and 1.70/1000 in 2004., Conclusions: The higher incidence of sensorineural hearing loss in our study is due to a high prevalence of consanguineous marriage in Sicily that was shown to be linked with hearing impairment. The "sensitivity value" was 95% at the first step but became 99% after the second step with a few number of false positive (0.74%). All the infants with a diagnosis of sensorineural hearing loss began a rehabilitation program before the age of 5 months and they have a good speech development and speech intelligibility.

Aim: Sickle cell disease has been frequently associated with sensorineuronal hearing loss. Several studies have demonstrated a significant prevalence rate of sensorineuronal hearing loss in black patients reporting a range of 11-41%, while few data are reported for white people with Hb S/beta thalassemia. In this paper we evaluated the prevalence of sensorineuronal hearing loss in a Sicilian population affected by sickle cell disease., Methods: Otologic and audiologic examinations were performed in 50 patients with S-beta thalassemia (37 with the beta(s)beta(0th) and 13 with the beta(s)beta(+th)) and 23 patients with sickle cell anemia (beta(s)beta(s)) observed at the Department of Pediatric Hematology and Oncology, University of Catania., Results: A sensorial hearing loss of more than 25 dB was recorded in 24% of subjects with Hb S/beta0-thalassemia, in 23% of subjects with Hb S/beta+-thalassemia and in 30% of subjects with sickle cell anemia. We found an increase in the frequency of hearing loss with increasing age., Conclusions: Our data showed that sensorineuronal hearing loss is a common complication in white patients with sickle cell anemia, and in patients with severe forms of Hb S/beta-thalassemias.

Sensorineural hearing loss (SNHL) is a serious public health problem which affects 1-3% per hundred live born babies in developed countries. The congenital cytomegalovirus (CMV) infection is its most important non-genetic cause. The evaluation of the effectiveness of future programs of anti-CMV vaccination requires an assessment of the present costs of SNHL. Direct costs for the Italian public system were calculated per prosthesis child until his full age and turned out to add up to 260,000 euro. Private costs are difficult to be assessed and anyhow are highly dependent from the socio-economic level. This preliminary assessment suggests that the vaccination would be cost-saving if SNHL cases due to congenital CMV were more than 21 per year, corresponding to a congenital infection prevalence higher than 0.21%o.