[Nonsyndromic sensorineural deafness--analysis of etiology in relatives].

We present the results of complex clinical examination of children affected with sensorineural hearing loss. The siblings (minimum two) were born from unaffected parents and came from twelve families. Molecular studies confirmed genetic background of hearing loss in 6 families and enabled identification of GJB2 mutations in investigated probants.

[Analysis of hearing impairment causes in molecular diagnosis of deafness].

Deafness is one of the most frequent congenital hearing impairments. Knowledge of its causes will result in elimination of risk factors and applying prophylactic activities. It is recognized that about 40% of hearing impairments have genetic origin and 80% of these are autosomal recessive.

High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.

We report an analysis of 102 unrelated Polish patients with profound prelingual deafness for mutations in the GJB2 gene (OMIM #220290). Mutations were found in 41/102 (40%) subjects. Among mutated alleles, 35delG was prevalent and present in 88%.

[Searching new diagnostic and rehabilitation techniques in small deaf children].

In the generally accepted model of the diagnosis and rehabilitation in small deaf children, the main concern of various specialists is focused on the development of speech and hearing abilities. In our approach, we propose another perspective, in which the deaf child is not seen as an object of the speech education and where the specialists concentrate on the child as a whole--with his various emotional needs and psychical traits. According to that way of seeing the deaf child, we organized the diagnostic-rehabilitation courses for small deaf children and their parents (9 children aged 1.

[Elaboration of a model for the rehabilitation of children with severe hearing loss].

New diagnostic model of rehabilitation in young deaf children was performed. Study presents 33 patients with a profound hearing impairment examined by means of "day-time hospital".