In this thesis, we described the 19p13.13 chromosome deletion syndrome (the chromosome 19 deletion, the 19th chromosome deletion syndrome or abbreviated syndrome), which is one of the rare syndromes due to the small number of described persons. The prevalence of the syndrome is unknown and only 10 cases of individuals have been described in the literature. In Slovenia we also have a case of this rare syndrome, which is why we have made a case study of a five-year-old child with 19p13.13 chromosome deletion syndrome. The theoretical part was based on foreign case studies, which presented and described individuals and their characteristics in the physical-motor, cognitive, emotional-personal and social field. The descriptions of individuals were then compared with the characteristics in the development of the selected child, who was received in February 2019 for speech and language therapy. We found out that the child's general characteristics were consistent with the findings of foreign case studies, including body hypotonia, unusually large head, vision problems, digestive problems and weak fine motor skills. The described characteristics were also detected in the selected child.
Existing literature claims that individuals with the syndrome also lag behind in communication skills with most often reported delay in speech and language development. Most often these children move to the stage of vocalization and acquire voices later compared to their peers. Some children fail to develop speech, leaving their communication on a nonverbal level. We have no other data on communication, language and speech, which testifies that the professional background of this field is poorly researched in the literature. Knowledge of this is important for successful speech and language therapy, so we decided to assess the communication of a 5-year-old child. We described child’s functioning in communication, speech and language based on known development milestones, speech therapy report of the child's speech therapist in the health institution, our assessment with the Communication Matrix, the assessment of the child's parents who assessed the child's sociopragmatic skills using Assessment Scale and the answers of a semi-structured interview. According to the obtained data, we found out that the child's development is still in the period of formation of voice speech and language, which lasts from child’s first year to his third year. A comparison with developmental milestones showed us that the boy's abilities correspond to the abilities of a 12-month-old child, which demonstrates a delay in his speech and language development.
The aim of the research was to contribute to a wider knowledge of the syndrome among speech therapists and other professionals dealing with the selected population and to obtain more detailed information that complements already known theoretical findings. Based on the findings, we established a proposal for further speech and language therapy.
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