[Analysis of hearing impairment causes in molecular diagnosis of deafness]. / Analiza przyczyn uszkodzen sluchu w swietle diagnostyki molekularnej gluchoty.

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. Introducing molecular diagnosis to medical practice makes precise identification of hearing impairment and genetic counseling possible. The authors present results of DNA examination in patients with hereditary deafness, performed at the National Research Institute of Mother and Child in Warsaw. Genetic cause of deafness was confirmed in 60% cases.

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%. In nine alleles, different mutations were found: M34T, Q47X, R184P, and 313del14 (found in 6 patients). The results prove mutations in the GJB2 gene are responsible for much hereditary nonsyndromic deafness in Poland, with a strong prevalence of the 35delG mutation. We have also found a high carrier frequency (1/50) for the 35delG mutation in the Polish population.

[Searching new diagnostic and rehabilitation techniques in small deaf children]. / W poszukiwaniu nowych metod diagnostyki i rehabilitacji malych dzieci gluchych.

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 1.8-5 years). We found these courses as a method opening new perspectives in the process of the diagnosis and rehabilitation in the small deaf children.

[Elaboration of a model for the rehabilitation of children with severe hearing loss]. / Próba opracowania modelu postepowania rehabilitacyjnego dla dzieci z glebokim uszkodzeniem sluchu.

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".

[Evaluation of hearing in children with an isolated cleft of the secondary palate]. / Ocena sluchu u dzieci z izolowanym rozszczepem podniebienia wtórnego.

Examinations of hearing and middle ears has been estimated in 101 children at the age from 2 to 13 years with cleft defect of the face, as a isolated cleft of secondary palate. All the children were under treatment at the Surgery Clinic for Children and Jouth of the Institut for Mother and Child. Hearing impairment of conductive type has been found in 53% (percent) of the children taken for treatment and inflammation of the middle ear in 64%.

[Selected problems in the rehabilitation of young children with severe hearing loss]. / Wybrane problemy rehabilitacji malych dzieci z glebokim uszkodzeniem sluchu.

The aim of the work was an analysis of the causes of difficulties in the rehabilitation of children with profound hearing loss. A theoretical basis of this analysis is the assumption that rehabilitation effects are determined by factors related to the system of care of the deaf child, diagnostic possibilities, and psychophysical properties of the child. The reported analysis was carried out in a material of 232 children aged up to 3 years, treated at the Audiology Outpatient Clinic of the Institute. The following factors were found of great importance in the analysis of difficulties in rehabilitation: care-system applied to the child with a profound hearing loss, diagnosis of the hearing impairment, type of a central nervous system disfunctions .