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

Martines, Francesco; Salvago, Pietro; Bentivegna, Daniela; Bartolone, Antonio; Dispenza, Francesco; Martines, Enrico

doi:10.1016/j.ijporl.2012.05.020

Cited by 31 publications

(14 citation statements)

References 42 publications

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“…Considering the high percentage (44.68%) of profound SNHL in Western Sicily, mainly related to genetic causes, it is clear that several children, who do not benefit from hearing aids, could be candidates to cochlear implantation [17][18][19][20].…”

Section: Discussionmentioning

confidence: 99%

“…From previous reports SNHL incidence in Western Sicily resulted 2.95/1000 on well babies, increasing 50-fold on infants at risk [17][18][19]; considering the high percentage of profound HL (44.68%) discovered, mainly related to genetic causes, it is clear that many children are potential candidates to CI [17][18][19][20]. Because of the expectations (in terms of intelligibility and speech development) of the families who choose to submit their child to CI surgery, there is a compelling need to investigate the main audiometric and speech outcomes in a defined group of SNHL infants after cochlear implantation.…”

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confidence: 91%

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Speech perception outcomes after cochlear implantation in prelingually deaf infants: The Western Sicily experience

Martines

Ballacchino

et al. 2013

International Journal of Pediatric Otorhinolaryngology

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Objectives: To describe audiometric characteristics and speech perception performances of prelingually deaf Sicilian children after cochlear implantation; to identify the influence of cochlear implant (CI) user and family's characteristics on speech recognition and intelligibility outcomes. Methods: Twenty-eight infants with a congenital or acquired hearing impairment and implanted before the 3rd year of life were studied; all children suffered from bilateral sensorineural hearing loss (SNHL) with evidence of lack of hearing aids benefit and no evidence of intellectual disability. The study of the main characteristics associated with CI user and family's profile was performed with a clinical assessment including pre-implant and post-implant (1, 3, 6, 12 and 18 months) behavioural audiometry (evaluating average threshold for the frequencies 0.5, 1, 2 and 4 KHz) and speech recognition tests (IT-MAIS, MUSS, CAP and SIR). Results: Our cohort was characterized by an early diagnosis of SNHL (5.77 and 12.17 months for congenital and acquired HL respectively), a short length of deafness (average = 6.78 months) and an implantation before the 3rd year of life (mean = 24.25 months; range from 10 to 36). Analysis of audiometric threshold revealed a significantly improved capacity to detect sounds within the conversational speech spectrum after 12 months from implantation (r = 0.99; p < 0.001). The main speech recognition test evidenced speech perception and speech intelligibility performances (CAP median value of 3; SIR category = 3 in 46.42%) equal to those children with same characteristics reported by literature. With the exception of 'daily CI use' (p < 0.001), none of the variables associated with CI user and family's profile resulted significant predictor of speech perception improvement. Conclusions: This work demonstrates that all children of our cohort, with an early diagnosis of SNHL and a CI surgery performed before the 3rd year of life, presented a progressive audiometric and speech improvement through the first 12-18 months after cochlear implantation. The study also highlights that, differently from the others variables studied, a continuous CI use influences significantly speech perception and recognition outcomes

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Section: Discussionmentioning

confidence: 99%

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confidence: 91%

Speech perception outcomes after cochlear implantation in prelingually deaf infants: The Western Sicily experience

Martines

Ballacchino

et al. 2013

International Journal of Pediatric Otorhinolaryngology

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“…Actually, in Italy, the absence of a unique stipulated modality for an early detection of HI (extended to the entire country) makes more ineffective the identification of deafness in the early childhood with a certain number of SNHL remaining undiscovered or diagnosed after 6th month of age. In fact, the NHS coverage percentage ranges from 79.5 % for the North-West Italy, corresponding to the most economically developed areas, to 11.3 % for the Islands like Sicily where the initiatives are still left to individual hospitals (often without qualified instrumentation and specialized medical staff) [16][17][18].…”

Section: Discussionmentioning

confidence: 99%

Prevalence and risk factors for sensorineural hearing loss: Western Sicily overview

Salvago

Martines

2013

Eur Arch Otorhinolaryngol

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The objective of this work was to evaluate the prevalence of sensorineural hearing loss (SNHL) and distribution of the main risk factors associated to it focusing on their role in the development of deafness and their interaction. We performed a global audiological assessment (through TEOAE, tympanometry and ABR) in 508 infants at risk studying the main risk factors reported by Joint Committee on Infant Hearing (2007). Fifty-one infants (10.03 %) were diagnosed with SNHL (45 bilateral and 6 unilateral) with a mean hearing threshold of 87.39 ± 28.25 dB HL; family history of hearing impairment (HI) and TORCH infections indicated 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 (11.97 and 9.52 %, respectively). The mean degree of hearing loss for children with family history of HI (>100 dB HL) emphasizes the necessity of an early diagnosis to avoid the consequences of auditory deprivation. Craniofacial abnormalities and syndromes associated to HI showed an important relationship (P < 0.00001) with conductive hearing loss. A progressive increase was evidenced in SNHL incidence as the number of risk factors rises (from 5.12 for 2 risk factors to 28.5 % for 5 or more) with a significant difference among the groups (P = 0.049); multiple risk factors showed an additional cofactor for HL (r (2) = 0.93). Considering the high SNHL prevalence (10.03 %) in infants at risk, this study highlights the necessity to implement a neonatal hearing screening program in Western Sicily.

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“…The proband (III1) was a 3-month-old infant who was admitted to the Audiology Section of the University of Palermo after failing two neonatal hearing screenings (performed with TEOAEs) in both ears; because the Audiology Section of Palermo University represents the main speech and hearing third level centre in Western Sicily, the infant was evaluated with a global audiological assessment; environmental risk factors for SNHL (JCIH 2007) [10] were investigated through the compilation of a specific questionnaire by the parents. An experienced audiologist and otorhinolaryngologist examined the condition of the external auditory canal and tympanic membrane with otoscopy, and nose, throat, head and face in search of ear anomalies and syndromic features related to hearing impairment [11][12][13][14].…”

Section: Methodsmentioning

confidence: 99%

Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family

Bartolotta

Salvago

Cocuzza

et al. 2013

Eur Arch Otorhinolaryngol

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The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G>C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of this family, both with normal hearing. No GJB6 mutations were evidenced in all subjects studied. Considering the genotypic and phenotypic analysis of all family members, we suggest, differently from the p.D179 N mutation previously reported, a recessive mode of inheritance. Functional studies on p.D179H have to be performed to confirm our hypothesis.

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

Cited by 31 publications

References 42 publications

Speech perception outcomes after cochlear implantation in prelingually deaf infants: The Western Sicily experience

Speech perception outcomes after cochlear implantation in prelingually deaf infants: The Western Sicily experience

Prevalence and risk factors for sensorineural hearing loss: Western Sicily overview

Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family

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