Rozwój mowy dziecka z zespołem wrodzonej centralnej hipowentylacji (CCHS): diagnoza, założenia i efekty terapii logopedycznej. Studium przypadku

Abstract

The paper presents a case study of a patient (age 5.2) with congenital central hypoventilation syndrome (CCHS) and tracheostomy. Its aim is to discuss the child’s speech development and speech therapy. The presented case due to the rare disease, unusual range of observed abnormalities and the lack of literature (mainly casuistry) required a special individual approach both in the field of diagnostics as well as planning and implementation of the therapy. For this reason, the ability to predict effects of the therapy and the pace of expected changes was significantly reduced. The initial state of patient’s speech (age 3.9) showed significant – approx. 20-month delay but only in the field of speech production. After 1.5 year of therapy the patient’s language development level (excluding the phonetic-phonological subsystem) did not differ from the standards established for Polish speaking children. Articulation, however, remained significantly and atypically impaired at this stage of development, what required further intensified and strongly individualized therapy.