Abstract Introduction Adolescents with cochlear implants may have difficulty developing language and memory abilities. Objective The primary objectives of this study are (1) to evaluate the language skills and verbal working memory performance of early and late diagnosed-intervened cochlear implanted adolescents and (2) to investigate the relationship between the verbal working memory and phonemic analysis skills in adolescents with cochlear implant. Methods This study included 72 participants with cochlear implant aged between 10 and 18 years. The participants were divided into two groups; those who had first hearing aid at the age of 6 months at the latest and had a first cochlear implant in at least one ear at the latest at 24 months were included in the early group, all the others were in the late group. The phonemic analysis test, a subtest of the test of language development: Primary, 4th edition (TOLD: P-4) – Turkish version, was used to assess language-based abilities, and the meaningless word repetition (MWR) test was utilized to assess verbal working memory. Results The adolescents with cochlear implants who received early diagnosis and intervention performed statistically significantly better in phonemic analysis scores and verbal working memory tests (p < 0.001). A statistically significant relationship was found between phonemic analysis and verbal working memory skills (Pearson, r = 0.567 and r = 0.659, p < 0.001). Conclusions Rehabilitation of phonological skills can contribute to the development of verbal working memory in adolescents with cochlear implants. There is a need for further studies on this issue with more detailed tests.

Resumo Introdução: Espectro da neuropatia auditiva ainda é uma condição clínica desafiadora. Objetivo: Apresentar nossa experiência no tratamento de crianças com espectro da neuropatia auditiva em relação aos dados clínicos. Método: Este estudo retrospectivo incluiu crianças menores de 16 anos de idade que deram entrada no departamento entre 2005 e 2013 (com exceção de encaminhamentos para triagem auditiva neonatal). Foram avaliados os dados obtidos a partir dos exames de audiometria tonal, emissões otoacústicas (EOA), potencial evocado auditivo de tronco encefálico (ABR) e outros fatores de risco. Resultados: Das 1.952 crianças com perda auditiva neurossensorial (2,04%) detectadas dentre os 9.520 candidatos que deram entrada no departamento (0,42%), espectro da neuropatia auditiva foi reconhecida em 74 orelhas de 40 crianças (B/U: 34/6). Os testes clínicos revelaram que uma perda auditiva superior a 15 dB estava presente em ambas as orelhas em 38 casos. O grau de perda auditiva das crianças era profundo em 48%, grave em 12%, moderado em 28%, leve em 10%, e normal em 5%. ABR estava ausente/anormal em 37/3 orelhas e microfonia coclear foi detectado em todas as crianças. Reflexos acústicos estavam ausentes em todas as orelhas. A reabilitação foi tratada com implante coclear e aparelhos auditivos em 15 e 23 casos, respectivamente. Um sistema FM foi utilizado em dois casos que apresentavam audição normal, mas discriminação deficiente da fala em ambientes ruidosos. Conclusão: Espectro da neuropatia auditiva é um problema desafiador para os departamentos de audiologia, devido às suas várias características clínicas e dificuldades no tratamento. Em nossos pacientes a perda auditiva profunda foi a mais frequente. O número de casos negligenciados pode ser diminuído com a realização dos exames ABR e EOA em todos os casos encaminhados com suspeita de perda auditiva.

ABSTRACT INTRODUCTION: ANSD is a challenging problem. OBJECTIVE: To present our experience on management of the children with ANSD with respect to clinical data. METHODS: This retrospective study included all children younger than 16 years of age who applied to the department between 2005 and 2013 (with the exception of newborn hearing screening NHS referrals). The data were derived from pure tone, OAEs and ABR tests, and further medical risk factors of the subjects were evaluated. RESULTS: ANSD was recognized in 74 ears of 40 children (B/U: 34/6) among 1952 children with SNHL (2.04%) detected among 9520 applicants to the department (0.42%). The clinical tests revealed that hearing loss greater than 15 dB was present in both ears of 38 cases. The degree of hearing loss was profound in 48% children, severe in 12% children, moderate in 28% children, mild in 10% children and normal in 5% children. ABRs were absent/abnormal in 37/3 ears and CMs were detected in all. Acoustic reflexes were absent in all ears. Rehabilitation was managed by CI and hearing aids in 15 and 23 cases, respectively. FM system was given to two cases displaying normal hearing but poor speech discrimination in noisy environments. CONCLUSION: ANSD is a relatively challenging problem for the audiology departments because of its various clinical features and difficulties in management. Our patients with ANSD most commonly displayed profound hearing loss. The number of overlooked cases may be minimized by performing ABR and OAE in every case referred with the suspicion of hearing loss.

Resumo Introdução: Mucopolissacaridose (MPS) é uma doença hereditária de depósito lisossômico, decorrente da deficiência das enzimas que influenciam o metabolismo dos glicosaminoglicanos (GAGs). A incidência de MPS é de 1/25.000 habitantes, resultante de herança autossômica recessiva (exceto no caso de MPS II). MPS se apresenta na forma de sete tipos diferentes e, em cada tipo, ocorre uma deficiência congênita distinta de enzimas lisossômicas. Embora em pacientes com MPS os achados clínicos não sejam geralmente observados, a doença progride em seu curso natural e costuma levar a óbito pacientes muito jovens. Dismorfismo facial, retardo de crescimento, retardo mental e displasia esquelética ou articular são os sinais e sintomas mais frequentemente observados nesses pacientes. Objetivo: A finalidade do presente estudo foi apresentar os tipos de perda auditiva e os achados timpanométricos de pacientes com MPS encaminhados para nossa clínica com suspeita de perda auditiva. Método: Em seguida ao exame otorrinolaringológico, nove pacientes com diferentes tipos de MPS, foram submetidos a avaliações imitanciométricas e testes audiométricos de acordo com sua faixa etária eficiência física e mental, no intuito de identificar seus limiares auditivos. Resultados: Os achados audiométricos dos nove pacientes acompanhados por MPS foram descritos separadamente para cada caso. Conclusão: Baseado na alta frequência de perda auditiva em pacientes com MPS, avaliação audiológica precoce e detalhada é altamente desejável. Para tanto, é importante que sejam realizados avaliações multidisciplinares periódicas e sistemáticas.

ABSTRACT INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance (except for MPS II). Mucopolysaccharidosis occurs in seven different types, each with a different congenital deficiency of lysosomal enzymes. In mucopolysaccharidosis patients, even though progression of clinical findings is not prominent, the disease advances and causes death at early ages. Facial dysmorphism, growth retardation, mental retardation, and skeletal or joint dysplasia are the most frequently found symptoms in these patients. OBJECTIVE: The purpose of our study is to present the types of hearing loss types and tympanometric findings of patients with mucopolysaccharidosis referred to our clinic with suspicion of hearing loss. METHODS: After otorhinolaryngological examination, 9 patients with different types of mucopolysaccharidosis, underwent to immittance and audiometric evaluations, performed according to their physical and mental abilities, and ages, in order to determine their hearing thresholds. RESULTS: The audiometric findings of the 9 patients followed with mucopolysaccharidosis were reported separately for each case. CONCLUSION: Based on the high frequency of hearing loss in mucopolysaccharidosis patients, early and detailed audiological evaluations are highly desirable. Therefore, regular and systematic multidisciplinary evaluations are very important.