Childhood hearing impairment in northern Finland, etiology and additional disabilities

Häkli, Sanna; Luotonen, Mirja; Bloigu, Risto; Majamaa, Kari; Sorri, Martti

doi:10.1016/j.ijporl.2014.08.007

Cited by 20 publications

(16 citation statements)

References 32 publications

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“…The estimated 0.12% population frequency of m.1555A>G based on the results of this study concurs with the previous estimates among Finnish hearing impaired children 26 , 27 and the low mutation frequencies reported in other European populations, such as 0.19% in British children. 28 The absence of m.1095T>C and m.1494C>T in our study can be interpreted that either these mutations are very rare and occur in extremely low numbers or that they do not exist in our population altogether.…”

Section: Discussionsupporting

confidence: 91%

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Mitochondrial Hearing Loss Mutations among Finnish Preterm and Term-Born Infants

et al. 2017

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Mitochondrial ribosomal 12S subunit gene (MTRNR1) is a hot spot for hearing loss mutations. Mutations such as m.1555A>G, m.1494C>T and m.1095C>T, cause sensitivity to aminoglycosides. Aminoglycoside treatment induces permanent hearing loss or deafness in the carriers and should therefore be avoided. The prevalence of these sensitivity mutations varies in different countries and populations. Over 90% of preterm children need aminoglycoside treatment during their first weeks of life. Infants who carry a mitochondrial sensitivity mutation can develop a life-long sensorineural hearing impairment as a side-effect of aminoglycoside treatment. Total of 813 Finnish preterm (born G, m.1494T>C and m.1095C>T mutations. The population prevalence of m.1555A>G was determined to be 0.12% in Finland. M.1494C>T and m.1095C>T mutations were absent. Out of the 813 infants, a term-born infant was found to harbor m.1555A>G at 81% heteroplasmy, while his mother’s heteroplasmy was 68%. Both had normal hearing and had not received aminoglycosides. Mothers with a family history of hearing loss who are at risk of preterm labor would benefit from antenatal genotyping of m.1555A>G mutation. The prevalence of m.1555A>G in Finns was close to other European countries. M.1494C>T and m.1095C>T mutations either do not occur in the Finnish population or they are very rare. This study highlights the importance of population-specific genotyping of MTRNR1 aminoglycoside sensitivity mutations, especially in countries with liberal aminoglycoside use.

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Section: Discussionsupporting

confidence: 91%

“…About half of Finnish hearing- impaired children have a genetic etiology for the hearing disability and in addition, 13% have three or more perinatal risk factors (such as prematurity). 26 …”

Section: Discussionmentioning

confidence: 99%

Mitochondrial Hearing Loss Mutations among Finnish Preterm and Term-Born Infants

et al. 2017

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“…16,17 Adicionalmente, porque a prevalência de outras patologias nas crianças com SC/SPA é superior à das crianças sem surdez (cerca de 30% a 40% têm pelo menos uma comorbilidade associada), é importante o seu acompanhamento por uma equipa multidisciplinar capaz de as identificar e tratar. [18][19][20][21][22][23] As comorbilidades mais frequentes são as patologias oculares, que em algumas séries chegam a atingir os 60% (p.ex. erros refratários, perturbação da visão binocular, ambliopia, estrabismo, perturbações visuais e cegueira).…”

Section: Introductionunclassified

“…perturbação da motricidade, perturbação do espectro do autismo, défice cognitivo, perturbação de hiperatividade e défice de atenção e dificuldades de aprendizagem). 16,23,24,27 A sua prevalência é idêntica qualquer que seja o grau de défice auditivo (DA). 21,23 A realização de testes padronizados para a sua deteção é de extrema importância.…”

Section: Introductionunclassified

“…16,23,24,27 A sua prevalência é idêntica qualquer que seja o grau de défice auditivo (DA). 21,23 A realização de testes padronizados para a sua deteção é de extrema importância. Sabe-se que a avaliação do desenvolvimento do lactente e da criança por um Pediatra, sem a realização desses testes, leva à omissão destes diagnósticos, em idade pré-escolar, numa percentagem que pode chegar aos 60%.…”

Section: Introductionunclassified

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Surdez Congénita ou Precocemente Adquirida: Do Rastreio ao Seguimento, um Retrato de Portugal

Oliveira

Machado²,

Zenha

et al. 2019

Acta Med Port

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Introduction: Congenital deafness or early acquired deafness affects 1 to 3 out of 1000 newborns without risk factors and 20 to 40 out of 1000 newborns with risk factors. The universal newborn hearing screening enables its early identification. Children with congenital deafness/early acquired deafness have a higher prevalence of other conditions, especially ophthalmologic and neurodevelopmental ones, and at least 30% to 40% have at least one associated comorbidity.Material and Methods: We carried out a cross-sectional, multicenter study in which 83% (n = 30) of the hospitals/maternity hospitals of the National Health Service participated.Results: All surveyed hospitals/maternity hospitals routinely performed universal newborn hearing screening to all newborns before discharge; 63% referred children with risk factors for hearing loss to Otorhinolaryngology. All children with congenital deafness/early acquired deafness are referred to: Pediatrics in 23% hospitals/maternity hospitals. In 23 hospitals/maternity hospitals, all children with congenital deafness/early acquired deafness are referred to: Speech Therapy in 44% hospitals/ maternity hospitals; Ophthalmology in 17% hospitals/maternity hospitals; National System of Early Intervention in Childhood in 30% hospitals/maternity hospitals; 22% of hospitals/maternity hospitals refer all children with congenital deafness/early acquired deafness, with no identified cause, to Clinical Genetics clinics. The number of diagnoses of deafness in the years 2014 and 2015 was 2.5 and 1.5 per 1000 newborns, respectively, in 15 hospitals/maternity hospitals.Discussion: Awareness of universal newborn hearing screening seems to be widely spread in the National Health Service. The number of children with SC / SPA, as well as the percentage of different types of deafness diagnosed, were identical to those found in other studies and shows its importance. The assessment / follow-up of these children by specialties other than the otolaryngology was heterogeneous in different health entities and revealed that not all children with risk factors for deafness follow up advised by existing standards.Conclusion: Results show that Portugal made an important path in the screening and follow-up of children with SC / SPA. It is important, with the ultimate aim of continually improving the care of these children, to reflect on the involvement of specialties other than otolaryngology, such as the National Early Childhood Intervention System in the follow-up of these children.

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The Organization of Cochlear Implant Programs in Tanzania: Assessment of Needs and Challenges

Lesinski‐Schiedat

Richard

Mkumbo

et al. 2023

Handbook of Speech-Language Therapy in Sub-Saharan Africa

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Childhood hearing impairment in northern Finland, etiology and additional disabilities

Cited by 20 publications

References 32 publications

Mitochondrial Hearing Loss Mutations among Finnish Preterm and Term-Born Infants

Mitochondrial Hearing Loss Mutations among Finnish Preterm and Term-Born Infants

Surdez Congénita ou Precocemente Adquirida: Do Rastreio ao Seguimento, um Retrato de Portugal

The Organization of Cochlear Implant Programs in Tanzania: Assessment of Needs and Challenges

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