Elisabetta Genovese

Cochlear implantation in deaf children with associated disabilities: Challenges and outcomes

The issue of cochlear implantation in deaf children with associated disabilities is an emerging subject. Currently, there is no consensus on whether to implant children with multiple impairments; moreover, it may be difficult to evaluate these children with standard tests pre- or post-implantation. In addition, these children often have poor speech perception and language skills, making assessment more difficult. Despite these factors, these children often receive important benefits in daily life, with an overall improvement in quality of life. In the present study, post-implant outcomes of 23 profoundly deaf children with neuropsychiatric disorders were analysed, using objective measures of speech perception, and a questionnaire administered to the parents, aimed at evaluating the benefits in daily life after implantation. The results were quite variable, but overall positive, in terms of speech perception, communication abilities, and improvement in quality of life. The findings add an additional piece of evidence to support the effectiveness of cochlear implantation in these special cases.

Selective epitympanic dysventilation syndrome

Although middle ear aeration is certainly related to eustachian tube (ET) function, other anatomic factors may play an important role in ventilation of these spaces, particularly the epitympanum.

Cochlear implantation outcome in prelingually deafened young adults. A speech perception study.

The outcome of cochlear implantation in patients with deafness of prelingual onset is largely unpredictable due to high individual variability. This study evaluated speech perception performances in a group of 18 prelingually deafened subjects (aged 13–30 years) which was homogeneous with respect to duration of deafness, hearing aid use before cochlear implantation, mode of communication and administration of auditory-oral speech therapy. Word discrimination length, word and sentence identification, phoneme identification and word and sentence recognition were tested before cochlear implantation and at 6 months, 1, 2 and 3 years of cochlear implant use. Scores on all tests significantly improved after cochlear implantation, although mean values were lower compared to those achieved by postlingually deafened patients. Speech performances on both word and sentence recognition continued to increase over time also beyond 1 year after cochlear implantation. Moreover, scores on sentence recognition tests were significantly higher compared to disyllabic words at 3 years of cochlear implant use. The presence of an auditory input delivered by hearing aids before cochlear implantation associated with auditory-oral therapy and a good level of education may positively influence the cochlear implant outcome in prelingually deafened adults.

Inferior retrotympanum revisited: An endoscopic anatomic study

To describe the inferior retrotympanic anatomy from an endoscopic perspective.

Endoscopic tympanoplasty in patients with attic retraction pockets

Patients undergoing endoscopic middle ear surgery require reconstruction procedures that are able to give adequate functional results, with particular attention to ventilation of middle ear routes and mastoid tissue preservation.

Therapy of unilateral vocal fold paralysis with polydimethylsiloxane injection laryngoplasty: our experience.

The objective of this study was to document functional results and to compare objective and subjective voice measures after endoscopic laryngoplasty with injection of polydimethylsiloxane (PDMS) for the treatment of unilateral vocal fold paralysis, and to verify PDMS biocompatibility in vocal fold. The design used was a longitudinal prospective study. Fifteen patients with unilateral vocal fold paralysis underwent endoscopic injection of PDMS in general anesthesia. Accurate voice evaluation protocol (acoustic and aerodynamics analyses, GIRBAS [Grade, Instability, Roughness, Breathiness, Asthenia, and Strain] scale, videostrobolaryngoscopy, and Voice Handicap Index test) before, after surgery, and at follow-up time was performed. The median follow-up was 21.7 months (range, 6-35). Data obtained were statistically significant. All acoustic, aerodynamics, perceptive, and subjective evaluations showed a significant improvement. No complications due to PDMS were reported. Functional results were found comparable to framework surgery. Endoscopic injection laryngoplasty with PDMS is a safe and long-term option for treatment of unilateral vocal fold paralysis.

Endoscopic exclusive transcanal approach to the tympanic cavity cholesteatoma in pediatric patients: Our experience

OBJECTIVES The aim of the present study is to describe our experience in the management of tympanic cavity cholesteatoma in pediatric patients, treated with endoscopic exclusive transcanal approach. METHODS A chart review of clinical data and videos from the operations of 54 pediatric patients, undergoing surgery between January 2007 and December 2013, was made. Patients presenting with cholesteatoma involving the tympanic cavity (mesotympanum, epitympanum, protympanum and/or hypotympanum), with no mastoid involvement, were included in the first group and underwent an exclusive transcanalar endoscopic approach (TEA). In case of mastoid extension of the pathology, patients were included in the control group and underwent a canal wall up microscopic technique (CWU). RESULTS In this study, 34 males and 20 females, including 5 bilateral cases, giving a total of 59 ears, were reviewed. Median age was 9.6 years (range 4-16 years). 31 cholesteatomas underwent a TEA approach, while 28 underwent a CWU approach, based on inclusion criteria. No differences from congenital vs acquired form was made, due to the difficult to correctly distinguish always the two forms. The ossicular chain was preserved in 26.6% of patients (16 ears): 42% of patients (13 ears) undergoing a transcanal endoscopic approach and 10% of patients undergoing a canal wall up microscopic approach (3 ears) (P=0.006). Second look surgery was executed in 41.6% of patients (25 ears). In partial ossicular prosthesis reconstructions, the mean preoperative pure-tone average was 29.4dB, while the mean postoperative pure-tone average was 27.1dB, with a mean increase of 2.3dB. In total ossicular prosthesis reconstructions, the mean preoperative pure-tone average was 47.8dB, while the mean postoperative pure-tone average was 26.5dB, with a mean increase of 21.3dB. Recurrence rate was 12.9% (4 ears) for the transcanal endoscopic approach group and 17.2% (5 ears) for the canal wall up microscopic approach. Residual disease was present in 26.6%: 19.3% (6 ears) for the transcanal endoscopic approach group and 34.4% (10 ears) for the canal wall up microscopic approach. The mean follow up was 36 months (range 8-88). Kaplan-Meier analysis at 36 months showed a lower recurrence risk for the transcanal endoscopic approach compared with the canal wall up microscopic approach, but this data was not statistically significant (P=0.58). CONCLUSION The transcanal endoscopic approach represents a feasible, minimally invasive and conservative technique for the management of pediatric middle ear cholesteatoma.

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort

The aim of this study was to describe the clinical features of hearing loss due to mutations on connexin 26/30 coding genes (GJB2/GJB6). Mutations in the GJB2 gene are found to account for approximately 50% of cases of autosomal recessive non-syndromic deafness. Several European studies have estimated that the GJB2 healthy carrier condition involves about 2–4% of the population, with the 35delG mutations being the most common. A 342-kb deletion truncating the GJB6 gene (encoding connexin-30) has been associated with autosomal recessive non-syndromic deafness, mostly as digenic inheritance of the Cx30 deletion/Cx26 mutation. The following retrospective study describes audiological features and genotypes of a large cohort of 376 Italian hearing-impaired patients who underwent genetic screening for the GJB2/GJB6 genes and received follow-up care at our centre between January 2002 and October 2006. Sixteen different genotypes causing deafness in more than 27% of patients with either biallelic mutations or digenic inheritance GJB2/GJB6 were identified. The most frequent mutations were 35delG, M34T, L90P, and R184P.

Surgical anatomy of transcanal endoscopic approach to the tympanic facial nerve.

Until recently, tympanic facial nerve surgery had been performed using microscopic approaches, but in recent years, exclusive endoscopic approaches to the middle ear have increasingly been used, particularly in cholesteatoma surgery. The aim of this report was to illustrate the surgical anatomy of the facial nerve during an exclusive endoscopic transcanal approach.

Evaluating benefits of cochlear implantation in deaf children with additional disabilities.

Objectives: Cochlear-implanted deaf children having additional disabilities may develop speech perception and language skills at a slower pace than their implanted peers without such disorders. Nevertheless, it has been shown that, even for these special cases, cochlear implantation (CI) provides benefits for a larger range of neuropsychological functions including social and relational skills. These benefits are frequently mentioned by parents, but rarely objectively measured by tests. This article presents a new evaluation tool aimed at assessing the global benefits offered by CI in these special cases. Design: The new tool has been designed as a closed-format questionnaire, divided into five areas. It is based on observing the frequency of preselected behaviors in daily activities, which imply specific social, neuropsychological, and perceptual skills. The questionnaire has been presented to the parents of 50 deaf children with additional disabilities, before and at least 6 months after CI. Results: The data show significant improvements in all investigated areas. However, not all skills improve in the same way, and only those skills related to language and communication correlate positively with time after implantation. The present article further discusses changes in skills for which parents have higher expectations, such as the preferred communication mode, speech intelligibility, and the ability to communicate on the telephone. Conclusions: The questionnaire has a simple-to-use format, and it has been proven to be sufficiently sensitive for the detection of changes in each examined area. Because the questionnaire is based on observed behaviors, it can be used even when other existing tests involve tasks that are too complex for these children.