Study of the etiology of deafness in an institutionalized population in colombia

Tamayo, Marta L.; Bernal, Jaime; Tamayo, Gustavo E.; Frías, Jaime L.

doi:10.1002/ajmg.1320440403

Cited by 10 publications

(9 citation statements)

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“…These procedures allow the identification of cases with associated congenital anomalies and the recognition of specific malformation syndromes. They also help to rule out acquired causes of deafness, such as prenatal infections [28][29][30], and facilitate the identification of non-syndromic cases for further molecular studies.…”

Section: Discussionmentioning

confidence: 98%

Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: Results of a screening program

Tamayo

Olarte

Gélvez

et al. 2009

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionmentioning

confidence: 98%

Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: Results of a screening program

Tamayo

Olarte

Gélvez

et al. 2009

International Journal of Pediatric Otorhinolaryngology

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“…The frequency has been reported to be ~1/25,000 in the USA and Scandinavia 5–7 . Studies of Schools for the Deaf have reached a consensus that ~5% of such students have Usher syndrome 5;8–10 . However, all the earlier studies sampled mostly severe and profoundly deaf children and would have overlooked those with milder hearing losses.…”

Section: Introductionmentioning

confidence: 99%

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

Kimberling

Hildebrand

Shearer

et al. 2010

Genetics in Medicine

200

134

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Purpose Usher syndrome is a major cause of genetic deafblindness. The hearing loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in early childhood to the middle teenage years. Its frequency may be underestimated. Newly developed molecular technologies can detect the underlying gene mutation of this disorder early in life providing estimation of its prevalence in at risk pediatric populations and laying a foundation for its incorporation as an adjunct to newborn hearing screening programs. Methods A total of 133 children from two deaf and hard of hearing pediatric populations were genotyped first for GJB2/6 and, if negative, then for Usher syndrome. Children were scored as positive if the test revealed ≥1 pathogenic mutations in any Usher gene. Results Fifteen children carried pathogenic mutations in one of the Usher genes; the number of deaf and hard of hearing children carrying Usher syndrome mutations was 15/133 (11.3%). The population prevalence was estimated to be 1/6000. Conclusion Usher syndrome is more prevalent than has been reported prior to the genome project era. Early diagnosis of Usher syndrome has important positive implications for childhood safety, educational planning, genetic counseling, and treatment. The results demonstrate that DNA testing for Usher syndrome is feasible and may be a useful addition to newborn hearing screening programs.

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“…Uma ampla pesquisa recente, que ilustra o terceiro tipo de investigação supracitado, foi realizada por Tamayo et al 15 em 16 escolas para deficientes auditivos, localizadas em diversas cidades da Colômbia, objetivando identificar os fatores determinantes da surdez. Foram examinados 1.715 alunos.…”

Section: Discussionunclassified

“…Isso significa que o percentual de 4,3% que encontramos deve estar subestimado. Assim, por exemplo, na pesquisa realizada na Colôm-bia 15 , em que exame oftalmológico sistemático foi realizado, a síndrome de Usher foi diagnosticada em 164 (9,6%) dos 1.715 alunos examinados. Adicionadas as outras anomalias oculares detectadas, esse percentual subiu para 15,4%.…”

Section: Discussionunclassified

Causes of pre-verbal deafness in an institutionalized population, emphasizing genetic etiology

Eo²

1997

J Pediatr (Rio J)

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ResumoObjetivo: Investigar as causas de surdez pré-verbal em uma população institucionalizada, com enfoque sobre a etiologia gené-tica, considerando-se a escassez de dados nacionais nessa área.Métodos: Com base nos prontuários de 658 alunos, matriculados em 18 instituições para deficientes auditivos de Recife, foram obtidas informações relativas a testes audiológicos, exames laboratoriais, etiologia, anomalias associadas, consangüinidade e presença de outros surdos na família; exame dismorfológico foi realizado em 557 alunos; todas as famílias com casos recorrentes de surdez foram investigadas, tendo sido constituídas as genealogias pertinentes.Resultados: Cerca de 13% da população estudada, provavelmente, manifestam surdez genética; os padrões de herança autossô-mico recessivo, autossômico dominante e recessivo ligado ao X foram observados, respectivamente, em 87,7%, 8,8% e 3,5% dos casos familiais; entre os alunos examinados, 4,3% apresentavam síndromes dismórficas específicas ou anomalias associadas à surdez; as causas adquiridas e a etiologia desconhecida estavam representadas por 41,5% e 45,5% respectivamente.Conclusões: As freqüências que obtivemos para os distintos fatores causais de surdez pré-verbal situam-se dentro do espectro de variação das freqüências observadas em trabalhos similares, salientando-se que, em grande parte dos casos, a etiologia é desconhecida.J. pediatr. (Rio J.). 1997; 73(4):239-243: surdez pré-verbal, herança monogênica. AbstractObjective: To investigate the causes of pre-verbal deafness in an institutionalized population emphasizing genetic etiology, considering the scarceness of national data in this field.Methods: Based on the promptuaries of 658 pupils from 18 institutions for deaf people in Recife, information about audiological tests, laboratory examinations, etiology, associated anomalies, consanguinity and other deaf persons in the family was obtained; dysmorphologic examination was performed in 557 pupils; all the families with recurrent cases of deafness were investigated, having the pertinent pedigrees been constituted.Results: About 13% of the studied population probably manifest genetic deafness; the autosomal recessive, autosomal dominant and X-linked recessive patterns of inheritance were observed, respectively, in 87.7%, 8.8% and 3.5% of the familial cases; among the examined pupils, 4.3% presented specific dysmorphic syndromes or anomalies associated with deafness; the acquired causes and unknown etiology were represented by 41.5% and 45.5% respectively.Conclusions: Obtained frequencies for the distinct causal factors of pre-verbal deafness are within the spectrum of variation of the frequencies observed in similar works, pointing out that in a great number of cases the etiology is unknown. J. pediatr. (Rio J.). 1997; 73(4):239-243:pre-verbal deafness, single-gene inheritance. IntroduçãoCerca de 5% das crianças em idade escolar e 10% dos adultos manifestam deficiência auditiva 1 . Quando profunda e bilateral, a surdez afeta diversos aspectos da vida de seus portado...

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Study of the etiology of deafness in an institutionalized population in colombia

Cited by 10 publications

References 10 publications

Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: Results of a screening program

Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: Results of a screening program

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

Causes of pre-verbal deafness in an institutionalized population, emphasizing genetic etiology

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