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One of the widely used tests to evaluate functional asymmetry of cerebral hemispheres is the dichotic listening test with the usually prevailing right ear advantage. The current study aims at assessing hemispheric laterality in an adult sample of individuals with dyslexia, with auditory processing disorder (APD), and adults experiencing comorbidity of the two mentioned disorders against a control group with normal hearing and absence of learning disabilities. Results exhibit a right hemispheric dominance for the control and APD group, a left hemispheric dominance for the group diagnosed with both dyslexia and APD, and absence of dominance for the dyslexia group. Assessment of laterality was repeatable and produced stable results, indicating a true deficit. A component of auditory processing, specifically the auditory performance in competing acoustic signals, seems to be deficient in all three groups, and laterality of hemispheric functions influenced at least for auditory-language stimuli in the two of the three groups, one being adults with dyslexia and the other being adults with comorbidity of dyslexia and APD.

Aim The current study aims to assess: (a) the prevalence of auditory processing in a population of children reporting learning difficulties, (b) the correlation of APD diagnosis with age, the intelligence coefficient (IQ) and with the presence of a specific learning disability such as dyslexia and (c) to evaluate the reliability of each auditory processing test used in this study in identifying APD. Method We evaluated one hundred and twenty-seven consecutive children referred to the academic tertiary LD Clinic of the Psychiatric Department by means of a psychoacoustic mainly non–verbal test battery. Results APD was found to be present in 43.3% and co-existing with developmental dyslexia in 25% of cases. The diagnosis of APD correlated with age in that children with APD were younger by 2 years than those without a diagnosis of APD. The diagnosis of APD did not correlate with IQ or with the diagnosis of dyslexia. Interpretation High prevalence of APD in the targeted group of children suspected of Learning Disabilities sets the grounds for a possible benefit in screening for the disorder.

Background: Auditory processing disorders involve deficits in the processing of information in the auditory domain that are not due to higher order language, cognitive or other related factors. Purpose: To evaluate the possibility of structural brain abnormalities in preterm children manifesting as auditory processing disorders. Research Design : A case report of a young girl, preterm at birth, with language difficulties, learning problems at school, and additional listening problems. Results: A diagnosis of a central auditory processing disorder was made on the basis of severe deficits in three nonspeech temporal tests (the frequency and duration pattern and the random gap detection tests). Her brain MRI revealed large porencephalic cysts and thinning of the corpus callosum. Conclusions: The observed auditory deficits would be compatible with a pressure effect of the cysts at a brainstem or higher level for the random gap detection test, and with the thinning of the corpus callosum for the pattern tests, the latter requiring interhemispheric transfer of information. The case highlights that preterm children with learning difficulties may suffer from an auditory processing disorder, in the presence of structural brain abnormalities that are due to birth and neonatal complications.

Contains fulltext : 35228.pdf (Publisher’s version ) (Closed access) Otosclerosis is a common form of hearing impairment among white adults with a prevalence of 0.3-0.4%. It is caused by abnormal bone homeostasis of the otic capsule that compromises free motion of the stapes in the oval window. Otosclerosis is in most patients a multifactorial disease, caused by both genetic and environmental factors. In some cases, the disease is inherited as a monogenic autosomal dominant trait, sometimes with reduced penetrance. However, families large enough for genetic linkage studies are extremely rare. To date, five loci (OTSC1-5) have been reported, but none of the responsible genes have been cloned yet. An additional locus, OTSC6, has been reported to the HUGO nomenclature committee but the relevant linkage study has not been published. In this study, a genome-wide linkage study was performed in a large Greek pedigree segregating autosomal dominant otosclerosis. A seventh locus, OTSC7, was localized on chromosome 6q13-16.1 with a multipoint LOD score of 7.5 in the 13.47 cM region defined by markers D6S1036 (centromeric) and D6S300 (telomeric). Linkage analysis of this new locus in 13 smaller Belgian and Dutch families has identified one family from The Netherlands in which allele segregation suggests linkage to this region. The overlap between the critical regions of these two families is a 1.06 Mb interval between the genetic markers D6S1036 (centromeric) and D6S406 (telomeric) on chromosome 6q13.

The development of a word recognition test for Modern Greek, which is comprised of three fifty-word lists, is described herein. The development was guided by four principles: 1) use of the shortest words possible (two syllables for Greek) 2) use of highly frequent words 3) phonetic balance and 4) appropriate balance of first and second syllable stress. The lists were recorded by one male and one female native speakers. Thirty-seven native speakers of Greek listened to all words by both speakers. Across lists, the mean correct identification score was 97.9% for the female voice (95% confidence interval 96.97 to 98.84) and 96.5% (95% confidence interval 95.31 to 97.77) for the male voice. This small difference was statistically significant (p

Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 have been shown as a major contributor to prelingual, sensorineural, nonsyndromic deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations and is one of the most frequent disease mutations identified so far with highest carrier frequency of 3,5% in the Greek population. In a collaboration with the major referral centers for childhood deafness in Greece, patients were examined by an extensive questionnaire to exclude syndromic forms and environmental causes of deafness and by allele-specific PCR for the detection of the 35delG mutation. The 35delG mutation was found in 32.1% of the alleles in 173 unrelated cases of prelingual deafness: 50 homozygotes and 11 heterozygotes. Individuals heterozygous for the 35delG mutation were further analyzed by direct genomic sequencing of the coding region of the GJB2 gene, which revealed R184P and 486insT mutations in single alleles. We conclude that the 35delG GJB2 mutation is responsible for one third of prelingual, sensorineural deafness in Greece, which is higher than the usually quoted 20% for Caucasian populations.

Results Percentages of correct identification of digits were calculated separately for each ear and the scores were organized and analyzed according to the four subject groups. Group 1: normal children, Group 2: children diagnosed with dyslexia, Group 3: children diagnosed with (C)APD and Group 4: children diagnosed with both dyslexia and (C)APD. Mean scores for the right ear were 90.25, 86.88, 76.50 and 70.83 for groups 1,2,3 and 4 respectively and for the left ear 88, 84.58, 70.83, 70.83.

Approximately one in 1,000 children is affected by severe or profound hearing loss at birth or during early childhood (prelingual deafness). Up to 40% of congenital, autosomal recessive, severe to profound hearing impairment cases result from mutations in a single gene, GJB2, that encodes the connexin 26 protein. One specific mutation in this gene, 35delG, accounts for the majority of GJB2 mutations detected in Caucasian populations. Some previous studies have assumed that the high frequency of the 35delG mutation reflects the presence of a mutational hot spot, while other studies support the theory of a common founder. Greece is among the countries with the highest carrier frequency of the 35delG mutation (3.5%), and a recent study raised the hypothesis of the origin of this mutation in ancient Greece. We genotyped 60 Greek deafness patients homozygous for the 35delG mutation for six single nucleotide polymorphisms (SNPs) and two microsatellite markers inside or flanking the GJB2 gene. The allele distribution in the patients was compared to 60 Greek normal hearing controls. A strong linkage disequilibrium was found between the 35delG mutation and markers inside or flanking the GJB2 gene. Furthermore, we found a common haplotype with a previous study, suggesting a common founder for the 35delG mutation.

Primary music education introduces children to the world of sound and music. For some children, however, auditory process disorders (APDs) act as a barrier to the comprehension of the sound elements, like rhythmic motives, variations, etc. The effect of APD in music perception is often neglected within classroom activities. This paper tries to shed light upon this effect, by focusing on duration comprehension. Experimental results from APD testing in pupils (9-12 yrs) from three Greek primary schools show that age influences the duration pattern sequence perception. Moreover, sensitivity in spatial sound information is increased in the age of 10 yrs. These results initiate some implications for ICT-based approach in music education that would foster adaptation to pupilspsila special needs during the educational process.

Background Learning disabled children have been shown to have difficulties with speech perception and in particular with rapid sounds such as stop consonants. Debate concerning the origin of these difficulties exists. One theory proposes that the problem is language specific (phonological) and not purely basic auditory. The other theory proposed that a group of children with learning disabilities has central auditory processing disorders, concerning in particular the temporal component. Our goal was to create a simple test to examine children with learning disabilities and investigate the incidence of occurrence of such a difficulty in Greek dyslexic children.

Summary Objective The aim of our study was to characterize the hearing impairment in a large multigenerational Greek family with autosomal dominant nonsyndromic otosclerosis and to perform genetic linkage analysis to known otosclerosis loci and collagen genes. In addition, we looked for mutations in the NOG gene to rule out congenital stapes ankylosis syndrome. Methods Audiological analysis of the affected persons was based on multiple linear regression (MLR) analysis and construction of age-related typical audiograms (ARTA). Genotyping of microsatellite DNA polymorphisms for known otosclerosis (OTSC) loci or collagen genes and linkage analysis using the MLINK computer program were performed. The coding region of the NOG gene was screened for mutations by direct DNA sequencing. Results The hearing loss in this family appears in childhood as conductive, but soon becomes mixed. Because the additional sensorineural component is progressive, this finally has lead to a pure sensorineural hearing loss in some family members, as the conductive component is masked. Audiological analysis showed an age-independent conductive component and a progressive frequency-specific sensorineural component. Linkage analysis excluded linkage to the four known otosclerosis loci (OTSC1, OTSC2, OTSC3, and OTSC5), as well as to the COL1A1 and COL1A2 genes. Mutation analysis of the coding region of the NOG gene did not reveal any disease causing mutation. Conclusions This study represents the first description of a detailed audiological analysis in a large pedigree segregating otosclerosis as a monogenic autosomal dominant trait. Exclusion of the four known otosclerosis loci in this family shows that monogenic otosclerosis is a genetically heterogeneous disease involving at least five different genes. A mutation in the NOG gene is not the underlying molecular mechanism of the early onset otosclerosis segregating in this family.

The present study describes the audiological profile of genetic hearing loss resulting from GJB2 mutations in northern Greece, as this represents the most frequent single cause of childhood sensorineural hearing loss. The 35delG mutation in homozygosity was detected in 27 of 107 patients (25.2%). The audiological profile is that of a profound or severe sensorineural hearing loss, with a sloping or flat configuration of the audiogram, mostly symmetrical, non-progressive and affecting more the higher frequencies. This profile underlines the importance of early identification and genetic family counseling leading to the future possibility of prevention of deafness. Eur Arch Otorhinolaryngol

OBJECTIVE: Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) have been shown as a major contributor to prelingual, sensorineural, nonsyndromic, recessive deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations. The aim of our study was to determine the prevalence and spectrum of GJB2 mutations in prelingual deafness in the Greek population. METHODS: In a collaboration with the major referral centers for childhood deafness in Greece, patients were examined by an extensive questionnaire to exclude syndromic forms and environmental causes of deafness and by allele-specific polymerase chain reaction (PCR) for the detection of the 35delG mutation. Patients heterozygous for the 35delG mutation were further analyzed by direct genomic sequencing of the coding region of the GJB2 gene. RESULTS: The 35delG mutation was found in 42.2% of the chromosomes in 45 familial cases of prelingual, nonsyndromic deafness (18 homozygotes and 2 heterozygotes) and in 30.6% of the chromosomes in 165 sporadic cases (45 homozygotes and 11 heterozygotes). Direct genomic sequencing in heterozygous patients revealed the L90P (2 alleles), W24X (2 alleles), R184P (2 alleles), and 291insA (1 allele) mutations. CONCLUSION: Mutations in the GJB2 gene are responsible for about one third of prelingual, sensorineural, nonsyndromic deafness in the Greek population, and allele-specific PCR is an easy screening method for the common 35delG mutation. Int J Pediatr Otorhinolaryngol

Perception of complex sound is a process carried out in everyday life situations and contributes in the way one perceives reality. Attempting to explain sound perception and how it affects human beings is complicated. Physics of simple sound can be described as a function of frequency, amplitude and phase. Psychology of sound, also termed psychoacoustics, has its own distinct elements of pitch, intensity and tibre. An interconnection exists between physics and psychology of hearing.

Psychoacoustics is a fascinating developing field concerned with the evaluation of the hearing sensation as an outcome of a sound or speech stimulus. Neuroaudiology with electrophysiologic testing, records the electrical activity of the auditory pathways, extending from the 8th cranial nerve up to the cortical auditory centers as a result of external auditory stimuli. Central Auditory Processing Disorders may co-exist with mental disorders and complicate diagnosis and outcome.

Difficulty in speech understanding in the presence of background noise or competing auditory signals is typically present in central auditory processing disorders. These disorders may be diagnosed in Alzheimer's disease as a result of degeneration in the central auditory system. In addition perception and processing of speech may be affected.