Perceptual validation of an acoustic metric for measuring vowel production by deaf children

This paper discusses a study to validate the metric developed in the Geers and Moog Cochlear Implant Study at CID to measure the speech production of hearing impaired children.

A preschool hearing-impaired math curriculum

This paper presents a basic math curriculum for preschool hearing impaired children, including lesson plans and activities.

Enhancing the acquisition of phonemic awareness in hearing impaired students

This paper includes suggestions for enhancing phonemic awareness for hearing impaired children.

Differential sensitivity to tonal frequency and to the rate of modulation of broad-band noise by hearing-impaired listeners

This dissertation examined whether a hearing impairment of the auditory end-organ has the same or a differential effect on the place and periodicity processes. Differential sensitivities for four normally hearing listeners and for both ears of five patients with unilateral Meniere’s disease were measured for tonal frequency and rate of sinusoidally amplitude-modulated noise at common frequencies and rates of the stimulus.

The search of a genetic basis for noise-induced hearing loss (NIHL)

Background and aim: Knowledge about the genetic factors responsible for noise-induced hearing loss (NIHL) is still limited. This study investigated whether genetic factors are associated or not to susceptibility to NIHL. Subjects and methods: The family history and genotypes were studied for candidate genes in 107 individuals with NIHL, 44 with other causes of hearing impairment and 104 controls. Mutations frequently found among deaf individuals were investigated (35delG, 167delT in GJB2, Delta(GJB6- D13S1830), Delta(GJB6- D13S1854) in GJB6 and A1555G in MT-RNR1 genes); allelic and genotypic frequencies were also determined at the SNP rs877098 in DFNB1, of deletions of GSTM1 and GSTT1 and sequence variants in both MTRNR1 and MTTS1 genes, as well as mitochondrial haplogroups. Results: When those with NIHL were compared with the control group, a significant increase was detected in the number of relatives affected by hearing impairment, of the genotype corresponding to the presence of both GSTM1 and GSTT1 enzymes and of cases with mitochondrial haplogroup L1. Conclusion: The findings suggest effects of familial history of hearing loss, of GSTT1 and GSTM1 enzymes and of mitochondrial haplogroup L1 on the risk of NIHL. This study also described novel sequence variants of MTRNR1 and MTTS1 genes.

Role of the Mitochondrial Mutations, m. 827A > G and the Novel m. 7462C > T, in the Origin of Hearing Loss

Samples from 30 deaf probands exhibiting features suggestive of syndromic mitochondrial deafness or from families with maternal transmission of deafness were selected for investigation of mutations in the mitochondrial genes MT-RNR1 and MT-TS1. Patients with mutation m. 1555A>G had been previously excluded from this sample. In the MT-RNR1 gene, five probands presented the m. 827A>G sequence variant, of uncertain pathogenicity. This change was also detected in 66 subjects of an unaffected control sample of 306 Brazilian individuals from various ethnic backgrounds. Given its high frequency, we consider it unlikely to have a pathogenic role on hereditary deafness. As to the MT-TS1 gene, one proband presented the previously known pathogenic m. 7472insC mutation and three probands presented a novel variant, m. 7462C>T, which was absent from the same control sample of 306 individuals. Because of its absence in control samples and association with a family history of hearing impairment, we suggest it might be a novel pathogenic mutation.

Chromosome imbalances in syndromic hearing loss

The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were detected in eight patients, four de novo imbalances and four inherited from a normal parent. The de novo alterations define candidate chromosome segments likely to harbor dosage-sensitive genes related to hearing impairment, namely 1q23.3-q25.2, 2q22q23, 6p25.3 and 11q13.2-q13.4. The rare imbalances also present in normal parents might be casually associated with hearing impairment, but its role as a predisposition gene remains a possibility. Our results show that syndromic deafness is frequently associated with chromosome microimbalances (14-27%), and the use of aCGH for defining disease etiology is recommended.

Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling

Objective: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) and del(GJB6-D13S1854), are reported to account for 50% of recessive deafness, Aiming at establishing the frequencies of GJB2 mutations and GJB6 deletions in the Brazilian population, we screened 300 unrelated individuals with hearing impairment, who were not affected by known deafness related syndromes. Methods: We firstly screened the most frequently reported mutations, c.35delG and c.167delT in the GJB2 gene, and del(GJB6-D13S1830) and del(GJB6-D13S1854) in the GJB6 gene, through specific techniques. The detected c.35delG and c.167delT mutations were validated by sequencing. Other mutations in the GJB2 gene were screened by single-strand conformation polymorphism and the coding region was sequenced when abnormal patterns were found. Results: Pathogenic mutations in GJB2 and GJB6 genes were detected in 41 individuals (13.7%), and 80.5% (33/41) presented these mutations in homozygosis or compound heterozygosis, thus explaining their hearing defect. The c.35delG in the GJB2 gene was the most frequent mutation (37/300; 12.4%), detected in 23% familial and 6.2% the sporadic cases. The second most frequent mutation (1%; 3/300) was the del(GJB6- D13S1830), always found associated with the c.35delG mutation. Nineteen different sequence variations were found in the GJB2 gene. In addition to the c.35delG mutation, nine known pathogenic alterations were detected 0 67delT, p.Trp24X, p.Val37lle, c.176_191del16, c.235delC, p.Leu90Pro, p.Arg127His, c.509insA, and p.Arg184Pro, Five substitutions had been previously considered benign polymorphisms: c.-15C>T, p.Val27lle, p.Met34hr, p.Ala40Ala, and p.Gly160Ser. Two previously reported Mutations of unknown pathogenicity were found (p.Lys168Arg, and c.684C>A), and two novel substitutions, p.Leu81Val (c.G241C) and p.Met195Val (c.A583G), both in heterozygosis without an accompanying mutation in the other allele. None of these latter four variants of undefined status was present in a sample of 100 hearing controls. Conclusions: The present study demonstrates that Mutations in the GJB2 gene and del(GJB6 D13S1830) are important causes of hearing impairment in Brazil, thus justifying their screening in a routine basis. The diversity of variants in our sample reflects the ethnic heterogeneity of the Brazilian population.

Seqüência de moebius: Manifestações clínicas e avaliação auditiva

Introduction: Children with Moebius syndrome may present paralysis of cranial nerves III, IV, V, VI, VII, VIII, IX, X and XII, compromising motor and sensorial functions. Hands and feet defects (syndactyly, equinovarus and arthrogryposis) are frequently associated. These manifestations can be attributed to the use of misoprostol during pregnancy to induce abortion. Study design: Clinical prospective. Aim: To evaluate the main clinical manifestations, hearing acuity and possible etiologic factors in children with Moebius syndrome. Material and method: The children were submitted to clinical, otolaryngological and hearing acuity assessment. Hearing acuity was evaluated through behavioral tests, pure tone audiometry, tympanometry and auditory brainstem response (ABR). We investigated possible etiologic factors. Results: Three boys and two girls were evaluated. The main manifestations were: facial paralysis, paralysis of masseter muscle, defects in dental occlusion, retraction of tympanic membrane, equinovarus, oblique palpebral fissure and tongue atrophy. Conductive hearing loss was detected in three children and sensorineural hearing loss in one child. The use of misoprostol during pregnancy was reported by four mothers. Conclusions: The children with Moebius syndrome evaluated in the present study manifested palsies of various cranial nerves, especially V, VII and XII nerves, responsible for motor and sensorial alterations. Inadequate eustachian tube function associated to conductive hearing loss was frequent. The use of misoprostol during pregnancy was reported by the mothers and it was considered a possible etiologic factor.

Escolares com malformação de orelha externa e/ou média: avaliação do desempenho escolar e dos comportamentos sociais

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estudo de mutações no gene GJB2 e deleção delGJB6-D13S1830 em indivíduos com surdez não sindrômica da região Amazônica

A deficiência auditiva afeta cerca de 1 em cada 1000 recém-nascidos. Mutações no gene da conexina 26 (GJB2) são as causas mais frequentes de surdez não sindrômica em diferentes populações e é sabido que a mutação delGJB6-D13S1830 em DFNB30 é causadora de surdez neurossensorial. Muitos estudos descrevem o envolvimento de mutações no gene GJB2 com a deficiência auditiva em diferentes populações. Entretanto, existe pouca informação sobre a surdez genética no Brasil, especialmente na região Amazônica. OBJETIVO: Determinar a prevalência de mutações no gene GJB2 e da mutação delGJB6-D13S1830 em 77 casos esporádicos de surdez não sindrômicas. MÉTODO: A região codificante do gene GJB2 foi sequenciada e a PCR foi realizada para detectar a mutação delGJB6-D13S1830. RESULTADOS: O alelo 35delG foi encontrado em 9% dos pacientes (7/77). As mutações M34T e V95M foram detectadas em dois distintos pacientes heterozigotos. A mutação não patogênica V27I foi detectada em 28,6% (22/77). Não foi detectada a mutação delGJB6-D13S1830 em nenhum paciente estudado. CONCLUSÃO: Alelos mutantes no gene GJB2 foram observados em 40% (31/77) da amostra. Variantes patogênicas foram detectadas em apenas 12% (9/77). Mais estudos são necessários para elucidar causas genéticas de deficiência auditiva em populações miscigenadas.

Estudo evolutivo de concepções de crianças e adolescentes sem deficiência sobre as deficiências e suas atitudes sociais em relação à inclusão

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Perfil audiológico e habilidades auditivas em crianças e adolescentes com perda auditiva

The main impact of hearing loss, in childhood, is the difficult to speech perception. The hearing aids and the cochlear implant are resources used to decrease a result of hearing loss. After the adjustment of these resources, with the therapeutic process, is possible that children with profound hearing impairment develop their hearing abilities, so they will have possibilities to notice phonetic and phonological characteristics of the language. Different speech perception procedures investigate which phonetic and phonological characteristics of the speech segment can be noticed by children with hearing loss. This study aims at analyzing the audiology profile and the speech perception in deaf children and adolescent.

Exposição neonatal a drogas ototóxicas e possíveis alterações auditivas

Introduction: Scientific evidence indicates that neonatal exposure to ototoxic drugs cause hearing loss in newborns. Objective: To characterize the use of ototoxic antibiotics in newborns (NB), treated in the Neonatal Intensive Care Unit (NICU) and evaluate possible hearing modifications. Methods: A descriptive cross-sectional quantitative approach, using data from medical records of infants who were at some time in the NICU and used antibiotics, including ototoxic, from January to June 2004 as much as 2010, and the data were compared and analyzed. Parents/guardians of infants born in 2004 were contacted and applied a questionnaire containing questions about the children’s hearing. These children were submitted to audiological evaluation. Results: There was significant reduction in the time of use, the amount of antibiotics prescribed to newborns and Vancomycin prescription in 2010 compared to 2004. The hearing tests of 13 born in 2004 showed: sensorineural hearing loss in only 2 (one with moderate hearing loss and descending configuration in pure tone audiometry and the other with bilateral cochlear impairment); audiometric thresholds within the normal range in 11 patients, and the presence of otoacoustic emissions in 9. In Evoked Auditory Brainstem Response (ABR) no changes were observed. Conclusion: The reduction in the time of use, the amount and types of antibiotics observed may be related to the adoption of a Protocol in 2008, by the service. In contrast, auditory alterations may be related to a neonatal exposure to antibiotics in 2004.

O papel do intérprete de libras no ensino fundamental

The Brazilian sign language is a visual-spatial language, manifested through the hands, facial expressions and body, being considered a natural language used by the deaf community in Brazil. Thus, in a school context the knowledge of LIBRAS is fundamental to the interpreter and the deaf student, so, the role of the interpreter in the classroom is to mediate the relationship between teachers and students. The objective of this study is to investigate the importance of the interpreter in the educational process of the deaf child and try to map the possible difficulties found by him in his workspace, under his perspective in the classroom. This is a qualitative study, which had the data collection instrument as an open interview with questionnaire, dealing on issues concerning to the role and practice of the interpreter of Libras in the classroom to support the deaf student in school age. Therefore, participated in the study two interpreters of Libras who works in elementary school classrooms in the city of Jaú. The results shown that the interpreter's role is extremely important for the education of children with hearing impairment, but it's not recognized and many times not accepted by teachers and educational institutions, when its real function is respected