RESUMO
BACKGROUND: 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. DESIGN: A MEDLINE search was conducted to search for papers concerning the association between Central Auditory Processing Disorders and mental disorders. The research focused on the diagnostic methods providing the inter-connection of various mental disorders and central auditory deficits. MEASUREMENTS AND MAIN RESULTS: The medline research revealed 564 papers when using the keywords 'auditory deficits' and 'mental disorders'. 79 papers were referring specifically to Central Auditory Processing Disorders in connection with mental disorders. 175 papers were related to Schizophrenia, 126 to learning disabilities, 29 to Parkinson's disease, 88 to dyslexia and 39 to Alzheimer's disease. Assessment of the Central Auditory System is carried out through a great variety of tests that fall into two main categories: psychoacoustic and electrophysiologic testing. Different specialties are involved in the diagnosis and management of Central Auditory Processing Disorders as well as the mental disorders that may co-exist with them. As a result it is essential that they are all aware of the possibilities in diagnostic procedures. CONCLUSIONS: Considerable evidence exists that mental disorders may correlate with CAPD and this correlation could be revealed through psychoacoustics and neuroaudiology. Mental disorders that relate to Central Auditory Processing Disorders are: Schizophrenia, attention deficit disorders, Alzheimer's disease, learning disabilities, dyslexia, depression, auditory hallucinations, Parkinson's disease, alcoholism, anorexia and childhood mental retardation. Clinical awareness should be high in order for doctors of the two specialties, psychiatry and otorhinolaryngology-audiology to collaborate.
RESUMO
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.
Assuntos
Conexinas/genética , Predisposição Genética para Doença , Perda Auditiva Neurossensorial/genética , Mutação , Adolescente , Audiometria de Tons Puros , Criança , Pré-Escolar , Estudos de Coortes , Conexina 26 , Análise Mutacional de DNA , Feminino , Grécia/epidemiologia , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Medição de Risco , Índice de Gravidade de DoençaRESUMO
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.