Francesca Forli

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.

Universal neonatal audiological screening: experience of the University Hospital of Pisa

The early identification of pre-lingual deafness is necessary to minimize the consequences of hearing impairment on the future communication skills of a baby. According to the most recent international guidelines the deafness diagnosis must occur before the age of three months and the prosthetic-rehabilitative treatment with a traditional hearing aid should start within the first six months. When a Cochlear implant becomes necessary, the treatment should start between the age of 12 months and 18 months. The only way to diagnose the problem early is the implementation of universal neonatal audiological screening programs. Transient evoked otoacoustic emissions (TEOAE) is the most adequate test because its accurate, economic and of simple execution. Automatic auditory brainstem response (AABR) is necessary to identify patients with auditory neuropathy but it is also important to reduce the number of false-positives.The 20-30% of infant hearing impairment is represented by progressive or late-onset hearing loss (HL) so its also necessary to establish an audiological follow up program, especially in infants at risk.From November 2005 all neonates born in the University hospital of Pisa undergo newborn hearing screening. From 2008 the screening program follows the guidelines for the execution of the audiological screening in Tuscany which have been formulated by our group according to the 2007 JCIH Position Statement and adaptated to our regional reality by a multidisciplinary effort. From November 2005 to April 2009 8113 neonates born in the Neonatal Unit of Santa Chiara Hospital (Pisa) have undergone newborn hearing screening. 7621 neonates (93.9%) without risk factors executed only the TEOAE test. 492 (6.1%) neonates had audiological risk factors and thus underwent TEOAE and AABR. 84 patients (1,04%) failed both TEOAE and AABR tests. 78 of them underwent further investigations. 44 patients resulted falsepositives (the 0,54% of the screened newborns). 34 neonates (4,2 ‰) had a final diagnosis of hearing impairment. 8 patients (0.99 ‰) had unilateral hearing loss (HL). 26 patients (3,2 ‰) had bilateral hearing impairment.In our screening program the percentage of false-positives was quite low (0.54%) while the incidence of bilateral HL (3.2 ‰) is a little higher than that found in literature reports. In most of our patients premature birth or neonatal suffering represent the main cause of HL.

Preservation of residual hearing following cochlear implantation: comparison between three surgical techniques.

The preservation of residual hearing is becoming a high priority in cochlear implant surgery. It allows better speech understanding and ensures long-lasting and stable performance; it also allows the possibility, in selected cases, of combining electro-acoustic stimulation in the same ear. We present the results of a retrospective study of the conservation of residual hearing in three different groups of patients who had undergone cochlear implantation using three different cochlear implant electrode arrays, combined with three different surgical techniques for the cochleostomy. The study aimed to evaluate which approach allowed greater preservation of residual hearing. The best residual hearing preservation results (i.e. preservation in 81.8 per cent of patients) were achieved with the Contour Advance electrode array, using the Advance Off-Stylet technique and performing a modified anterior inferior cochleostomy; this combination enabled reduced trauma to the lateral wall of the cochlea during electrode insertion.

Analysis of the 3-Dimensional Fluid-Attenuated Inversion-Recovery (3D-FLAIR) Sequence in Idiopathic Sudden Sensorineural Hearing Loss

IMPORTANCE The unpredictability of idiopathic sudden sensorineural hearing loss (ISSNHL) presents a challenge to preventive care. Our study confirms the potentially important role of the 3-T magnetic resonance imaging (MRI), and in particular of the 3-dimensional fluid-attenuated inversion-recovery (3D-FLAIR) sequence, in the diagnosis and prognosis of ISSNHL to guide medical treatment. OBJECTIVE To confirm the diagnostic, clinical, and prognostic role of 3D-FLAIR MRI in patients with idiopathic sudden sensorineural hearing loss (ISSNHL). DESIGN, SETTING, AND PATIENTS Retrospective study in a tertiary referral center with a consecutive sample of 23 patients diagnosed as having unilateral ISSNHL from January 2010 to March 2011. EXPOSURES Patients underwent 3D-FLAIR MRI at 3 T to evaluate ISSNHL, and the MRI images were compared with those belonging to a random group of 20 age-matched healthy patients. MAIN OUTCOMES AND MEASURES Precontrast and postcontrast high-intensity 3D-FLAIR MRI findings in patients with ISSNHL and the correlation with clinical findings. RESULTS Thirteen patients showed high-intensity signals in the affected inner ear on precontrast and postcontrast 3D-FLAIR MRI (57%). From the analysis of different MRI sequences, we posited 3 radiologic patterns likely correlated with mild hemorrhage, acute inflammation, and presence or absence of blood-labyrinth or nerve barrier (BLB) breakdown. Hypersignal on 3D-FLAIR MRI was positively associated with pretreatment hearing loss (P = .04) and presence of vertigo (P = .04). A strict correlation also existed between distribution of the signal (vestibule, semicircular canals) and clinical features (vertigo) (P = .04). CONCLUSIONS AND RELEVANCE Use of 3D-FLAIR MRI at 3 T may contribute to the elucidation of pathologic conditions in the inner ears of patients with ISSNHL and provide new radiologic indicators (mild hemorrhage, acute inflammation, presence or absence of BLB breakdown) that might assume the role of prognostic factors.

Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature.

Over the last decade, a number of distinct mutations in the mtDNA (mitochondrial DNA) have been found to be associated with both syndromic and non-syndromic forms of hearing impairment. Their real incidence as a cause of deafness is poorly understood and generally underestimated. Among the known mtDNA mutations, the A1555G mutation in the 12S gene has been identified to be one of the most common genetic cause of deafness, and it has been described to be both associated to non-syndromic progressive SNHL (sensorineural hearing loss) and to aminoglycoside-induced SNHL. In the present study, we have investigated the presence of mtDNA alterations in patients affected by idiopathic non-syndromic SNHL, both familiar and sporadic, in order to evaluate the frequency of mtDNA alterations as a cause of deafness and to describe the audiological manifestations of mitochondrial non-syndromic SNHL. In agreement with previous studies, we found the A1555G mutation to be responsible for a relevant percentage (5.4%) of cases affected with isolated idiopathic sensorineural hearing impairment.

Neurodevelopmental disorders in children with severe to profound sensorineural hearing loss: a clinical study

Aim  The effects of sensorineural hearing loss (SNHL) are often complicated by additional disabilities, but the epidemiology of associated disorders is not clearly defined. The aim of this study was to evaluate the frequency and type of additional neurodevelopmental disabilities in a sample of children with SNHL and to investigate the relation between these additional disabilities and the aetiology of deafness.

Virtual endoscopy of the middle ear

Abstract Virtual endoscopy is a computer-generated simulation of fiberoptic endoscopy, and its application to the study of the middle ear has been recently proposed. The need to represent the middle ear anatomy by means of virtual endoscopy arose from the increased interest of otolarygologists in transtympanic endoscopy. In fact, this imaging method allows the visualization of middle ear anatomy with high detail, but it is evasive and is essentially used for surgical guidance. Virtual endoscopy provides similar perspectives of the tympanic cavity but does not require the tympanic perforation. In the study of the middle ear, specific attention is given to the retroperitoneum. This region contains elevations of the medial wall (pyramidal eminence and ridge, styloid eminence and ridge, subiculum, ponticulus) and depressions (sinus tympani, posterior sinus tympani, facial sinus, fossula of Grivot, oval window fossula), which can be effectively displayed by virtual endoscopy. Virtual endoscopy is foreseen as a useful tool in preoperative management of patients who are candidates for middle ear surgery, since it can predict with high detail the patients specific anatomy by imaging perspectives familiar to otosurgeons.

Fully implantable Otologics MET Carina™ device for the treatment of sensorineural and mixed hearing loss: Audio-otological results

Abstract Conclusion: Our results attest that the Otologics MET Carina™ is a viable treatment for moderate to severe sensorineural hearing loss (SNHL) and for cases of mixed hearing loss, and that in selected cases it could represent an alternative to conventional hearing aids. Objectives: To describe our experience with the fully implantable Carina™ in eight adult patients, seven with moderate to severe SNHL and one with mixed hearing loss. Methods: Eight implanted adult patients were submitted to a comprehensive audiological evaluation. Results: We did not record any surgical relevant complication in any of the patients, nor any significant postoperative variation in hearing thresholds, for air conduction or bone conduction, indicating the absence of surgical damage to the cochlea. All the patients demonstrated improvements in speech perception abilities with the device functioning and reported subjective benefits. With regard to the postoperative adverse effects, we had problems with feedback noise, which resolved with minor fitting adjustments in seven cases, while it required a second surgery to change the microphone position in the other patient. In one case a minimal extrusion of the microphone cable occurred requiring a revision surgery, a device failure occurred in one case, requiring substitution, and one patient decided on explantation of the device owing to psychological problems.

Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct

Pendred syndrome and the enlarged vestibular aqueduct (EVA) are considered phenotypic variations of the same entity due to mutations in the SLC26A4 (pendrin) gene. Pendred syndrome consists in sensorineural deafness, goiter and impaired thyroid hormone synthesis while in EVA thyroid function seems to be preserved. The aim of this study was to evaluate thyroid function and morphology and to look for mutations in the SLC26A4 gene in patients presented with EVA. Among 57 consecutive patients with sensorineural deafness 15 with EVA, as assessed by magnetic resonance imaging (MRI), were identified and studied. A complete evaluation of thyroid function including thyroid echography and perchlorate discharge test was carried out in all patients with EVA; all exons of the SLC26A4 gene were amplified from peripheral leukocytes and directly sequenced, using specific intronic primers. Out of 15 patients with EVA, goiter was present in 8 (53%), hypothyroidism in 7 (47%), increased serum thyroglobulin levels in 8 (53%) and a positive perchlorate discharge test in 10 (67%). Nine alleles of the SLC26A4 gene were mutated: 2 novel mutations (L465W and G497R) and 4 already known mutations (T410M, R409H, T505N and IVS1001+1G>A) were found. Four subjects were compound heterozygous and 1 heterozygous (G497R/wt). All patients harbouring mutations in the SLC26A4 gene had goiter and a positive perchlorate discharge test: 3 were slightly hypothyroid and 2 euthyroid. The remaining 10 patients had no mutations in the SLC26A4 gene: 4 of them were hypothyroid, 2 with goiter and positive perchlorate discharge test, 2 without goiter and with negative perchlorate discharge test. Two patients without mutations were euthyroid with positive perchlorate discharge test. Patients with mutations in the SLC26A4 gene had larger thyroid volume (p<0.002), higher serum thyroglobulin (Tg) levels (p<0.002) and greater radioiodine discharge after perchlorate (p=0.09) than patients without mutations. The results of the present study lend support to the concept that all patients with mutated SLC26A4 gene have abnormalities of thyroid function tests.

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.