Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran

2011 ◽  
Vol 125 (5) ◽  
pp. 455-459 ◽  
Author(s):  
A Daneshi ◽  
S Hassanzadeh ◽  
H Emamdjomeh ◽  
S H Mohammadi ◽  
S Arzhangi ◽  
...  
Keyword(s):  
Speech Perception ◽  
Speech Production ◽  
Cochlear Implantation ◽  
Speech Intelligibility ◽  
Rating Scales ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Deaf Children ◽  
Nested Polymerase Chain Reaction ◽  
Iranian Children

AbstractObjectives:To investigate the prevalence of mutations in the coding exon of the GJB2 gene in Iranian children with cochlear implants, and to compare the outcomes of auditory perception and speech production in cochlear-implanted children with and without GJB2 mutation.Materials and methods:One hundred and sixty-six prelingually deaf children who had undergone cochlear implantation at the Iranian Cochlear Implant Center, Tehran, were selected from a pool of 428 implanted children. The prevalence of GJB2 gene mutations was assessed using nested polymerase chain reaction and direct sequencing. To enable comparisons, we also identified 36 implanted children with non-GJB2 deafness. Patients' speech perception and speech production were assessed using the Categorization of Auditory Performance and Speech Intelligibility Rating scales.Results:Thirty-three of 166 probands (19.9 per cent) were found to have GJB2 deafness-causing allele variants and were diagnosed with DFNB1 deafness. Results also indicated a significant improvement in speech perception and production scores in both GJB2 and non-GJB2 patients over time.Conclusion:Children with GJB2-related deafness benefit from cochlear implantation to the same extent as those with non-GJB2-related deafness.

Cochlear implantation in children with Waardenburg syndrome

2005 ◽  
Vol 119 (9) ◽  
pp. 719-723 ◽  
Author(s):  
A Daneshi ◽  
S Hassanzadeh ◽  
M Farhadi
Keyword(s):  
Speech Perception ◽  
Speech Production ◽  
Cochlear Implantation ◽  
Auditory Perception ◽  
Speech Intelligibility ◽  
Hearing Impaired ◽  
Type I ◽  
Waardenburg Syndrome ◽  
Retrospective Case ◽  
One Year

Waardenburg syndrome is an autosomal-dominant trait resulting from mutations occurring in different genes. It is often characterized by varying degrees of: congenital hearing loss; dystopia canthorum; synophrys; broad nasal root; depigmentation of hair (white forelock), skin or both; and heterochromic or hypochromic irides.A retrospective case study was done to assess speech perception, speech production, general intelligence and educational setting in six profoundly hearing-impaired children with Waardenburg syndrome (four with type I, one with type II and one with type III) ranging in age from two years to 14 years, seven months (mean = six years, six months). None of the patients had malformation of the cochlea and were implanted using Nucleus 22/24 and Med-el combi40+. Five out of the six cases were of average intelligence and one had a borderline intelligence quotient. The follow-up period ranged from one year, 10 months to six years, six months (mean = three years, six months) after implantation. The evaluation of auditory perception in patients was accomplished using the Persian Auditory Perception Test for the Hearing-Impaired, a Persian Spondee wordstest and the Categories of Auditory Performance Index. The Speech Intelligibility Rating test was used to evaluate speech production ability. All the patients’ speech perception and speech intelligibility capabilities improved considerably after receiving the implants, and they were able to be placed in regular educational settings. Patients used their cochlear-implant devices whenever awake, implying that they benefitted from the devices. We suggest that any further expansion of cochlear-implantation criteria in children include those with Waardenburg syndrome.

Performance after cochlear implantation: a comparison of children deafened by meningitis and congenitally deaf children

2000 ◽  
Vol 114 (1) ◽  
pp. 33-37 ◽  
Author(s):  
T. E. Mitchell ◽  
C. Psarros ◽  
P. Pegg ◽  
M. Rennie ◽  
W. P. R. Gibson
Keyword(s):  
Speech Perception ◽  
Speech Production ◽  
Cochlear Implantation ◽  
Statistical Significance ◽  
Production Performance ◽  
The Other ◽  
Deaf Children ◽  
Significant Difference

The speech perception and speech production performance following cochlear implantation of congenitally deaf children and children deafened by meningitis were analysed. Three groups consisting of 70 congenitally deaf children, 22 children deafened by meningitis before two years of age and 14 children deafened by meningitis after two years of age were compared. The group deafened by meningitis after two years of age demonstrated significantly better speech perception than the other two groups. Their speech production appeared better but did not achieve statistical significance compared with the other two groups. There was no significant difference in either speech perception or speech production between the congenitally deaf group and the group deafened by meningitis before two years of age.

Outcomes of cochlear implantation in deaf children of deaf parents: comparative study

2012 ◽  
Vol 126 (10) ◽  
pp. 989-994 ◽  
Author(s):  
S Hassanzadeh
Keyword(s):  
Cochlear Implantation ◽  
Speech Intelligibility ◽  
Second Generation ◽  
Rating Scale ◽  
Reference Group ◽  
Speech Development ◽  
Deaf Children ◽  
Hearing Parents ◽  
Deaf Parents ◽  
First And Second Generation

AbstractObjective:This retrospective study compared the cochlear implantation outcomes of first- and second-generation deaf children.Methods:The study group consisted of seven deaf, cochlear-implanted children with deaf parents. An equal number of deaf children with normal-hearing parents were selected by matched sampling as a reference group. Participants were matched based on onset and severity of deafness, duration of deafness, age at cochlear implantation, duration of cochlear implantation, gender, and cochlear implant model. We used the Persian Auditory Perception Test for the Hearing Impaired, the Speech Intelligibility Rating scale, and the Sentence Imitation Test, in order to measure participants' speech perception, speech production and language development, respectively.Results:Both groups of children showed auditory and speech development. However, the second-generation deaf children (i.e. deaf children of deaf parents) exceeded the cochlear implantation performance of the deaf children with hearing parents.Conclusion:This study confirms that second-generation deaf children exceed deaf children of hearing parents in terms of cochlear implantation performance. Encouraging deaf children to communicate in sign language from a very early age, before cochlear implantation, appears to improve their ability to learn spoken language after cochlear implantation.

scholarly journals Genetics of non Syndromic Hearing Loss in the Republic of Macedonia

2012 ◽  
Vol 15 (Supplement) ◽  
pp. 57-59 ◽  
Author(s):  
Emilija Sukarova Stefanovska ◽  
D Plaseska Karanfilska ◽  
M Cakar ◽  
I Filipce
Keyword(s):  
Hearing Loss ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Developed Countries ◽  
Deaf Children ◽  
Mtdna Mutations ◽  
Republic Of Macedonia ◽  
Syndromic Hearing Loss ◽  
The Republic ◽  
Genetic And Environmental Factors

ABSTRACT Hearing impairment is the most common sensory deficit in humans affecting 1 in 1000 newborns. When present in an infant, deafness may have dramatic effects on language acquisition, seriously compromising the quality of their life. Deafness is influenced by both genetic and environmental factors, with inherited causes as the most prominent etiological factor in deafness in developed countries. The genetic basis of hearing loss is complex with numerous loci and genes underlying hereditary sensoryneural non syndromic hearing loss (NSHL) in humans. Despite the wide functional heterogeneity of the genes, mutations in the GJB2 gene are found to be the most common cause of sporadic and recessive NSHL in many populations worldwide. Molecular characterization of deafness in the Republic of Macedonia was performed in 130 NSHL profoundly deaf children from different ethnic origins. Molecular studies included direct sequencing of the GJB2 gene and specific polymerase chain reaction (PCR) analyses for the del(GJB6- D13S1830) mutation. Five common mitochondrial DNA (mtDNA) mutations [A1555G, 961delT+ C(n), T1095C, C1494T and A827G] were also analyzed using the SNaPShot method. In preliminary studies, GJB2 gene mutations were found in 36.4% of analyzed patients, with predominance of 35delG in Macedonian and Albanian patients and W24X in Gypsy patients, respectively. No del(GJB6- D13S1830) mutation was found. None of the analyzed deafness-associated mutations in mtDNA were identified in the studied patients

scholarly journals A Systematic Review to Define the Speech and Language Benefit of Early (<12 Months) Pediatric Cochlear Implantation

2016 ◽  
Vol 21 (2) ◽  
pp. 113-126 ◽  
Author(s):  
Hanneke Bruijnzeel ◽  
Fuat Ziylan ◽  
Inge Stegeman ◽  
Vedat Topsakal ◽  
Wilko Grolman
Keyword(s):  
Speech Perception ◽  
Speech Production ◽  
Cochlear Implantation ◽  
Receptive Language ◽  
Additional Benefit ◽  
Speech And Language ◽  
Language Outcome ◽  
Auditory Performance ◽  
Auditory Integration

Objective: This review aimed to evaluate the additional benefit of pediatric cochlear implantation before 12 months of age considering improved speech and language development and auditory performance. Materials and Methods: We conducted a search in PubMed, EMBASE and CINAHL databases and included studies comparing groups with different ages at implantation and assessing speech perception and speech production, receptive language and/or auditory performance. We included studies with a high directness of evidence (DoE). Results: We retrieved 3,360 articles. Ten studies with a high DoE were included. Four articles with medium DoE were discussed in addition. Six studies compared infants implanted before 12 months with children implanted between 12 and 24 months. Follow-up ranged from 6 months to 9 years. Cochlear implantation before the age of 2 years is beneficial according to one speech perception score (phonetically balanced kindergarten combined with consonant-nucleus-consonant) but not on Glendonald auditory screening procedure scores. Implantation before 12 months resulted in better speech production (diagnostic evaluation of articulation and phonology and infant-toddler meaningful auditory integration scale), auditory performance (Categories of Auditory Performance-II score) and receptive language scores (2 out of 5; Preschool Language Scale combined with oral and written language skills and Peabody Picture Vocabulary Test). Conclusions: The current best evidence lacks level 1 evidence studies and consists mainly of cohort studies with a moderate to high risk of bias. Included studies showed consistent evidence that cochlear implantation should be performed early in life, but evidence is inconsistent on all speech and language outcome measures regarding the additional benefit of implantation before the age of 12 months. Long-term follow-up studies are necessary to provide insight on additional benefits of early pediatric cochlear implantation.

Speech Perception Growth Patterns in Prelingual Deaf Children With Bilateral Sequential Cochlear Implantation

2019 ◽  
Vol 40 (8) ◽  
pp. e761-e768 ◽  
Author(s):  
Yehree Kim ◽  
Jee Yeon Lee ◽  
Won Seob Lim ◽  
Min Young Kwak ◽  
Ji Won Seo ◽  
...  
Keyword(s):  
Speech Perception ◽  
Cochlear Implantation ◽  
Growth Patterns ◽  
Deaf Children
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