Cognitive skills in children with Usher syndrome type 1 and cochlear implants

Henricson, Cecilia; Wass, Malin; Lidestam, Björn; Möller, Claes; Lyxell, Björn

doi:10.1016/j.ijporl.2012.06.020

Cited by 21 publications

(25 citation statements)

References 25 publications

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“…Benefits vary from a better quality of life, observed in questionnaires, 3 to superior performance in oral communication. 2,[4][5][6] This variability of the results is seen as being dependent on factors such as age of implantation, duration of deafness, and type communication prior to implantation. 6,7 Families have sought the solution for children with Usher syndrome who did not have the opportunity to receive cochlear implants in early childhood, since the visual loss is progressive, starting in adolescence.…”

Section: Introductionmentioning

confidence: 99%

Outcomes of Late Implantation in Usher Syndrome Patients

Hoshino

Echegoyen

Goffi-Gómez

et al. 2016

Int Arch Otorhinolaryngol

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Introduction Usher syndrome (US) is an autosomal recessive disorder characterized by hearing loss and progressive visual impairment. Some deaf Usher syndrome patients learn to communicate using sign language. During adolescence, as they start losing vision, they are usually referred to cochlear implantation as a salvage for their new condition. Is a late implantation beneficial to these children? Objective The objective of this study is to describe the outcomes of US patients who received cochlear implants at a later age. Methods This is a retrospective study of ten patients diagnosed with US1. We collected pure-tone thresholds and speech perception tests from pre and one-year post implant. Results Average age at implantation was 18.9 years (5–49). Aided average thresholds were 103 dB HL and 35 dB HL pre and one-year post implant, respectively. Speech perception was only possible to be measured in four patients preoperatively, who scored 13.3; 26.67; 46% vowels and 56% 4-choice. All patients except one had some kind of communication. Two were bilingual. After one year of using the device, seven patients were able to perform the speech tests (from four-choice to close set sentences) and three patients abandoned the use of the implant. Conclusion We observed that detection of sounds can be achieved with late implantation, but speech recognition is only possible in patients with previous hearing stimulation, since it depends on the development of hearing skills and the maturation of the auditory pathways.

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Section: Introductionmentioning

confidence: 99%

Outcomes of Late Implantation in Usher Syndrome Patients

Hoshino

Echegoyen

Goffi-Gómez

et al. 2016

Int Arch Otorhinolaryngol

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“…Indeed, the auditory performance of the 2 implantees demonstrates that this theoretical expectation could be clinically validated and postimplantation auditory test results showed a clear benefit of speech recognition in quiet and noise. To date, only very few reports on the outcome of cochlear implantation in patients with defined types of hereditary hearing loss have been published [da Motta et al, 2012;Henricson et al, 2012;Lai et al, 2012;Mesolella et al, 2004;Nishizaki et al, 1999;Sanggaard et al, 2008;Yamaguchi et al, 1997]. All of these describe a favourable outcome after cochlear implantation; however, it remains unclear whether this demonstrates a generally good response of this therapy in hereditary hearing loss or rather a publication bias.…”

Section: Discussionmentioning

confidence: 99%

“…Especially data on the differential prognosis of speech perception after cochlear implantation would be beneficial when counselling affected patients. However, there are just very few studies published which report the clinical details of the outcome after cochlear implantation in patients with different types of hereditary hearing loss thereby limiting the prospects of a phenotype-driven patient management [da Motta et al, 2012;Eppsteiner et al, 2012;Henricson et al, 2012;Lai et al, 2012;Mesolella et al, 2004;Nishizaki et al, 1999;Yamaguchi et al, 1997]. Besides 1 affected patient in a 6-generation MYO6 family who received a cochlear implant [Sanggaard et al, 2008], the literature lacks detailed data on the potential outcome of DFNA22 patients after cochlear implantation.…”

Section: Introductionmentioning

confidence: 99%

A Novel <b><i>MYO6</i></b> Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation

Volk¹,

Lang‐Roth²,

Yigit³

et al. 2013

Audiol Neurotol

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Mutations in MYO6 encoding an atypical myosin motor protein important for inner ear hair cell function have been associated with autosomal recessive (DFNB37) and autosomal dominant (DFNA22) types of hearing loss in a few families worldwide. After genome-wide linkage analysis, we identified a novel MYO6 mutation at the splice acceptor site of exon 7 (c.554-1G>A) in an extended German family with autosomal dominant postlingual non-syndromic hearing impairment. Analysis of blood-derived cDNA revealed different aberrantly spliced mRNAs caused by the mutation, which are predicted to severely interfere with protein function. Two of the family members underwent cochlear implantation at ages 53 and 65. Here, we present detailed clinical data of this family which suggest a favourable outcome of cochlear implantation in hearing-impaired individuals with a MYO6 mutation.

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“…Die frühzeitige Diagnose "Usher-Syndrom" kann die Eltern in ihrer Entscheidung zu einer Cochleaimplantation zu unterstützen. Vor allem die frühzeitige Versorgung mit CIs begünstigt die Sprachentwicklung von Kindern und erhöht die Lebensqualität der Patienten [24]. Die Gleichgewichtsprobleme können durch Balancetraining verbessert werden.…”

Section: Ush-therapieunclassified

Das Usher-Syndrom, eine Ziliopathie des Menschen

Wolfrum

Nagel-Wolfrum

2018

Klin Monatsbl Augenheilkd

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The human Usher syndrome (USH) is a complex, rare disease manifesting in its most common form of inherited deaf-blindness. Due to the heterogeneous manifestation of the clinical symptoms, three clinical types (USH1-3) are distinguished according to the severity of the disease pattern. For a correct diagnosis, in addition to the auditory tests in early newborn screening, ophthalmological examinations and molecular genetic analysis are important. Ten known USH genes encode proteins, which are from heterogeneous protein families, interact in functional protein networks. In the eye and in the ear, USH proteins are expressed primarily in the mechano-sensitive hair cells and the rod and cone photoreceptor cells, respectively. In the hair cells, the USH protein networks are essential for the correct differentiation of the hair bundles as well as for the function of the mechano-electrical transduction complex in the matured cell. In the photoreceptor cells, USH proteins are located in the ciliary region and participate in intracellular transport processes. In addition, a USH protein network is present in the so-called calyceal processes. The lack of calyceal processes and the absence of a prominent visual phenotype in the mouse disqualifies mice as models for studies on the ophthalmic component of USH. While hearing impairments can be compensated with hearing aids and cochlear implants, there is no practical therapy for USH in the eye. Currently, gene-based therapy concepts, such as gene addition, applications of antisense oligonucleotides and TRIDs ("translational readthrough inducing drugs") for the readthrough of nonsense mutations are preclinically evaluated. For USH1B/MYO7A the UshStat gene therapy clinical trial is ongoing.

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Cognitive skills in children with Usher syndrome type 1 and cochlear implants

Cited by 21 publications

References 25 publications

Outcomes of Late Implantation in Usher Syndrome Patients

Outcomes of Late Implantation in Usher Syndrome Patients

A Novel <b><i>MYO6</i></b> Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation

Das Usher-Syndrom, eine Ziliopathie des Menschen

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