Importance of early diagnosis of Stickler syndrome in newborns

Objective: The study aims to investigate a possible correlation between the main clinical and ophthalmological characteristics, age and Robin sequence in patients with the Stickler syndrome. Introduction: The Stickler syndrome is an autosomal dominant genetic disorder, characterised by ocular, orofacial and skeletal anomalies and/or auditory loss. Patients with Robin sequence features and respiratory complications are frequently diagnosed with the Stickler syndrome. The heterogeneous phenotypic manifestations may present a challenge for early clinical diagnosis. Methods: We performed a retrospective study of the 98 patients with the Stickler syndrome, between November 1995 and June 2009. The data were compared to investigate their ocular alterations and association with the Robin sequence. To be included, patients had to present with the following triad: cleft palate, facial features (hypoplastic midface, micrognathia and prominent eyes) and ocular anomalies (myopia and/or abnormalities of the retina). Results: Fifty-one percent of the patients presenting with Robin sequence features had been diagnosed with the Stickler syndrome. Ocular alterations were found in 50% of the patients. Discussion: The Robin sequence may appear as an isolated condition or associated with other features, or else as part of other known syndromes. Currently, the diagnosis of the Stickler syndrome is based on clinical signs. Affected individuals eventually develop hearing loss, retinal detachment and blindness. The ophthalmological complications associated are usually progressive and can lead to blindness.

Alteration of distortion product otoacoustic emission input/output functions in subjects with a previous history of middle ear dysfunction

Background: The aim of this study was to investigate the effects of sub-clinical alterations on the amplitudes and slopes of the DPOAE input-output responses from subjects with previous history of middle ear dysfunction. Material/Methods: The study included 15 subjects with and 15 subjects without a history of otitis media in the last 10 years. All participants were assessed with acoustic immittance, pure-tone audiometry, and DPOAEs. For the later, I/O functions and I/O slopes were estimated at 1501, 2002, 3174, 4004 and 6384Hz. Results: No statistically significant differences were found between the 2 groups in terms of behavioral thresholds. The group with a previous history of middle ear dysfunction presented significantly lower mean DPOAE amplitudes at 2002, 3174 and 4004 Hz. In terms of DPOAE slopes, no statistically significant differences were observed at the tested frequencies, except at 3174 Hz. Conclusions: Middle ear pathologies can produce subclinical alterations that are undetectable with traditional pure-tone audiometry. The data from the present study show that reduced amplitude DPOAEs are associated with a previous history of middle ear complications. The corresponding DPOAE slopes were affected at only 1 tested frequency, suggesting that the cochlear non-linearity is preserved. Considering these results, it remains to be elucidated to what degree the DPOAE amplitude attenuation interferes with higher-order auditory tasks.

Surgical complications in 550 consecutive cochlear implantation

Cochlear implantation is a safe and reliable method for auditory restoration in patients with severe to profound hearing loss. Objective: To describe the surgical complications of cochlear implantation. Materials and Methods: Information from 591 consecutive multichannel cochlear implant surgeries were retrospectively analyzed. All patients were followed-up for at least one year. Forty-one patients were excluded because of missing data, follow-up loss or middle fossa approach. Results: Of 550 cochlear implantation analyzed, 341 were performed in children or adolescents, and 209 in adults. The mean hearing loss time was 6.3 +/- 6.7 years for prelingual loss and 12.1 +/- 11.6 years for postlingual. Mean follow-up was 3.9 +/- 2.8 years. Major complications occurred in 8.9% and minor in 7.8%. Problems during electrode insertion (3.8%) were the most frequent major complication followed by flap dehiscence (1.4%). Temporary facial palsy (2.2%), canal-wall lesion (2.2%) and tympanic membrane lesion (1.8%) were the more frequent minor complications. No death occurred. Conclusion: There was a low rate of surgical complications, most of them been successfully managed. These results confirm that cochlear implant is a safe surgery and most surgical complications can be managed with conservative measures or minimal intervention.

P300 in workers exposed to occupational noise

The harm upon the central auditory pathways of workers exposed to occupational noise has been scarcely studied. Objective: To assess the central auditory pathways by testing the long latency auditory evoked potentials (P300) of individuals exposed to occupational noise and controls. Method: This prospective study enrolled 25 individuals with normal hearing thresholds. The subjects were divided into two groups: individuals exposed to occupational noise (13 subjects; case group) and individuals not exposed to occupational noise (12 subjects; control group). The P300 test was used with verbal and non-verbal stimuli. Results: No statistically significant differences were found between ears for any of the stimuli or between groups. The groups had no statistically significant difference for verbal or non-verbal stimuli. Case group subjects had longer latencies than controls. In qualitative analysis, a greater number of altered P300 test results for verbal and non-verbal stimuli was seen in the case group, despite the absence of statistically significant differences between case and control subjects. Conclusion: Individuals exposed to high sound pressure levels had longer P300 latencies in verbal and non-verbal stimuli when compared to controls.

Speech perception and cortical auditory evoked potentials in cochlear implant users with auditory neuropathy spectrum disorders

Objective: To characterize the PI component of long latency auditory evoked potentials (LLAEPs) in cochlear implant users with auditory neuropathy spectrum disorder (ANSD) and determine firstly whether they correlate with speech perception performance and secondly whether they correlate with other variables related to cochlear implant use. Methods: This study was conducted at the Center for Audiological Research at the University of Sao Paulo. The sample included 14 pediatric (4-11 years of age) cochlear implant users with ANSD, of both sexes, with profound prelingual hearing loss. Patients with hypoplasia or agenesis of the auditory nerve were excluded from the study. LLAEPs produced in response to speech stimuli were recorded using a Smart EP USB Jr. system. The subjects' speech perception was evaluated using tests 5 and 6 of the Glendonald Auditory Screening Procedure (GASP). Results: The P-1 component was detected in 12/14 (85.7%) children with ANSD. Latency of the P-1 component correlated with duration of sensorial hearing deprivation (*p = 0.007, r = 0.7278), but not with duration of cochlear implant use. An analysis of groups assigned according to GASP performance (k-means clustering) revealed that aspects of prior central auditory system development reflected in the P-1 component are related to behavioral auditory skills. Conclusions: In children with ANSD using cochlear implants, the P-1 component can serve as a marker of central auditory cortical development and a predictor of the implanted child's speech perception performance. (c) 2012 Elsevier Ireland Ltd. All rights reserved.

Auditory brainstem implant outcomes and MAP parameters: Report of experiences in adults and children

The auditory brainstem implant (ABI) was first developed to help neurofibromatosis type 2 patients. Recently, its use has been recently extended to adults with non-tumor etiologies and children with profound hearing loss who were not candidates for a cochlear implant (Cl). Although the results has been extensively reported, the stimulation parameters involved behind the outcomes have received less attention. Objective: The aim of this study is to describe the audiologic outcomes and the MAP parameters in ABI adults and children at our center. Methods: Retrospective chart review. Five adults and four children were implanted with the ABI24M from September 2005 to June 2009. In the adult patients, four had Neurofibromatosis type 2, and one had postmeningitic deafness with complete ossification of both cochleae. Three of the children had cochlear malformation or dysplasia, and one had complete ossified cochlea due to meningitis. Map parameters as well as the intraoperative electrical auditory brainstem responses were collected. Evaluation was performed with at least six months of device use and included free-field hearing thresholds, speech perception tests in the adult patients and for the children, the Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS) and (ESP) were used to evaluate the development of auditory skills, besides the MUSS to evaluate. Results: The number of active electrodes that did not cause any non-auditory sensation varied from three to nineteen. All of them were programmed with SPEAK strategy, and the pulse widths varied from 100 to 300 mu s. Free-field thresholds with warble tones varied from very soft auditory sensation of 70 dBHL at 250 Hz to a pure tone average of 45 dBHL. Speech perception varied from none to 60% open-set recognition of sentences in silence in the adult population and from no auditory sensation at all to a slight improvement in the IT-MAIS/MAIS scores. Conclusion: We observed that ABI may be a good option for offering some hearing attention to both adults and children. In children, the results might not be enough to ensure oral language development. Programming the speech processor in children demands higher care to the audiologist. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

Measures of quality of life in children with cochlear implant: systematic review

The use of cochlear implant (CI) in children enables the development of listening and communication skills, allowing the child's progress in school and to be able to obtain, maintain and carry out an occupation. However, the progress after the CI has different results in some children, because many children are able to interact and participate in society, while others develop limited ability to communicate verbally. The need for a better understanding of CI outcomes, besides hearing and language benefits, has spurred the inclusion of quality of life measurements (QOL) to assess the impact of this technology. OBJECTIVE: Identify the key aspects of quality of life assessed in children with cochlear implant. METHOD: Through a systematic literature review, we considered publications from the period of 2000 to 2011. CONCLUSION: We concluded that QOL measurements in children include several concepts and methodologies. When referring to children using CI, results showed the challenges in broadly conceptualizing which quality of life domains are important to the child and how these areas can evolve during development, considering the wide variety of instruments and aspects evaluated.

Amplificação por condução óssea em malformações congênitas: benefício e satisfação

Hearing loss is one of the most common clinical findings in subjects with malformations of the ear. Treatment consists of surgery and/or adapt a hearing aid amplification by bone (HA VO). Early intervention is critical to auditory stimulation and development of speech and language. OBJECTIVE: To characterize the audiological profile of subjects with congenital malformation of the external ear and/or middle and evaluate the benefit and satisfaction of using HA VO. METHOD: A descriptive study, subjects with bilateral congenital malformations of the external ear and/or middle, conductive or mixed hearing loss, moderate or severe and HA VO users. Evaluation of the benefit test using sentence recognition in noise and measures of functional gain and satisfaction assessment questionnaire using international IQ - HA. RESULTS: 13 subjects were evaluated, 61% were male and 80% with moderate conductive hearing loss or severe. There was better performance in the evaluation proposal, provided with HA when compared to the condition without HA. CONCLUSION: HA VO showed advantages for the population studied and should be considered as an option for intervention. Satisfaction was confirmed by elevated scores obtained in IQ - HA.

Questionnaire for monitoring auditory and language development in the first year of life

Purpose: To validate a monitoring questionnaire about hearing and language development applied by community health agents in the first year of life. Methods: Seventy six community health agents, previously trained on infant hearing health, administered a questionnaire to the families of 304 children with ages from 0 to 1 year. The questionnaire contains questions regarding hearing and language development and, for all age groups, the question “Does your child hear well?” was presented. The validity of the questionnaire was assessed by analyzing false positive and false negative rates of the identified children. A double-blind study was conducted so that all children assessed by the questionnaire were submitted to hearing evaluation performed by audiologists. Results: Four children (1.32%) were diagnosed with sensorineural hearing loss (two unilateral), and 69 (22.7%) with conductive hearing loss. The monitoring questionnaire showed specificity of 96% and sensitivity of 67%, with a false-negative rate of 33% for not identifying the unilateral hearing loss, and a false-positive rate of 4%. Conclusion: The questionnaire used has shown to be feasible and relevant to actions of the community health agents of the Family Health Strategy program, with high specificity and moderate sensitivity. The use of the validated instrument should be considered to complement Newborn Hearing Screening Programs, in order to identify late onset or acquired hearing loss.

Monitoramento de crianças com indicadores de risco para a deficiência auditiva

Purpose: to describe the proposal of monitoring children in the first year of life, who were not identified in the newborn hearing screening program but had risk factors for hearing loss. Method: the study included 258 risk children who had obtained the result “pass” in the Universal Newborn Hearing Screening Program of Hospital Santa Isabel – Bauru/SP, from June to November 2008. It was applied by the telephone, a validated questionnaire in a previous study, containing questions about hearing and language. For each question there were two possible answers: “yes” or “no” and we considered “failure” to obtain at least one “no” answer. With such result, the child was scheduled to perform an immediate hearing evaluation. Results: the questionnaire was applied with 169 families; with the others, there was no contact. From the total, 164 (97,04%) obtained “passed” and five (2,96%) “failed”. Between these five children, only three showed up for hearing evaluation and one had no disorders; two presented conductive hearing loss. It was observed distinct prevalence among the risk factors and there was no relation (p>0,05) of the risk factors with the evasion in the monitoring process. Conclusion: the monitoring through a questionnaire applied by telephone proved to be feasible, however, it is necessary to develop strategies to support their execution.

Adaptação do aparelho de amplificação sonora no SUS comparado com um modelo de adaptação compacto

In the present days it is critical to identify the factors that contribute to the quality of the audiologic care provided. The hearing aid fitting model proposed by the Brazilian Unified Health System (SUS) implies multidisciplinary care. This leads to some relevant and current questions. OBJECTIVE: To evaluate and compare the results of the hearing aid fitting model proposed by the SUS with a more compact and streamlined care. METHOD: We conducted a prospective longitudinal study with 174 participants randomly assigned to two groups: SUS Group and Streamline Group. For both groups we assessed key areas related to hearing aid fitting through the International Outcome Inventory for Hearing Aids (IOI-HA) questionnaire, in addition to evaluating the results of Speech Recognition Index (SRI) 3 and 9 months after fitting. RESULTS: Both groups had the same improvement related to the speech recognition after nine months of AASI use, and the IOI-HA didn't show any statically significant difference on three and nine months. CONCLUSION: The two strategies of care did not differ, from the clinical point of view, as regards the hearing aid fitting results obtained upon the evaluation of patients in the short and medium term, thus changes in the current model of care should be considered.

Auditory complaints and audiologic assessment in children with surgically repaired cleft lip and palate

Introduction: At the initial consultation, the speech-language pathologist and audiologist may consider possible diagnostic hypotheses based on the child's history and the parents' complaint. Aim: To investigate the association of hearing complaints with the findings obtained in the conventional audiologic assessment in children with cleft lip and palate. Retrospective study. Methods: We analyzed medical charts of 1000 patients with cleft lip and palate who underwent surgical repair between 1988 and 1995 at a mean age of 6 years 8 months. We excluded charts with records of inconsistent audiological responses and charts with missing data for any of the audiologic evaluations considered. Thus, the sample consisted of 393 records. Results: Two hundred thirty-nine patients presented hearing loss in one or both ears, but only 3.8% reported hearing complaints. The most frequent were otorrhea followed by otalgia. There was no statistical significance between the complaint and gender (p = 0.26) nor between the complaint and hearing loss (p = 0.83). Conclusion: This study showed no association between the hearing complaint and the conventional audiologic assessment

The relationship between the speech perception and the degree of satisfaction among adult users of cochlear implants

Introduction: In recent years, the benefits associated with the use of cochlear implants (CIs), especially with regard to speech perception, have proven to surpass those produced by the use of hearing aids, making CIs a highly efficient resource for patients with severe/profound hearing loss. However, few studies so far have assessed the satisfaction of adult users of CIs. Objective: To analyze the relationship between the level of speech perception and degree of satisfaction of adult users of CI. Method: This was a prospective cross-sectional study conducted in the Audiological Research Center (CPA) of the Hospital of Craniofacial Anomalies, University of São Paulo (HRAC/USP), in Bauru, São Paulo, Brazil. A total of 12 users of CIs with pre-lingual or post-lingual hearing loss participated in this study. The following tools were used in the assessment: a questionnaire, "Satisfaction with Amplification in Daily Life" (SADL), culturally adapted to Brazilian Portuguese, as well as its relationship with the speech perception results; a speech perception test under quiet conditions; and the Hearing in Noise Test (HINT)Brazil under free field conditions. Results: The participants in the study were on the whole satisfied with their devices, and the degree of satisfaction correlated positively with the ability to perceive monosyllabic words under quiet conditions. The satisfaction did not correlate with the level of speech perception in noisy environments. Conclusion: Assessments of satisfaction may help professionals to predict what other factors, in addition to speech perception, may contribute to the satisfaction of CI users in order to reorganize the intervention process to improve the users' quality of life.

Avaliação da qualidade de vida em crianças com implante coclear: revisão sistemática

The use of cochlear implant (CI) in children enables the development of listening and communication skills, allowing the child's progress in school and to be able to obtain, maintain and carry out an occupation. However, the progress after the CI has different results in some children, because many children are able to interact and participate in society, while others develop limited ability to communicate verbally. The need for a better understanding of CI outcomes, besides hearing and language benefits, has spurred the inclusion of quality of life measurements (QOL) to assess the impact of this technology. OBJECTIVE: Identify the key aspects of quality of life assessed in children with cochlear implant. METHOD: Through a systematic literature review, we considered publications from the period of 2000 to 2011. CONCLUSION: We concluded that QOL measurements in children include several concepts and methodologies. When referring to children using CI, results showed the challenges in broadly conceptualizing which quality of life domains are important to the child and how these areas can evolve during development, considering the wide variety of instruments and aspects evaluated.