Wybrane formy terapii dziecka z zespołem Di George’a. Studium przypadku
Selected forms of therapy of a child with DiGeorge syndrome. A case study

Summary/Abstract: DiGeorge syndrome is a genetically determined birth defect syndrome with anestimated incidence of once every 3000–5000 births. Among the most characteristicsymptoms are features of facial dysmorphia, abnormalities of intellectual developmentand speech, as well as dysfunction of many organ systems. Despite the relatively highincidence of DiGeorge syndrome, still little is known about the therapeutic management of children burdened with this genetic defect.The purpose of the analyses presented here is to show selected therapeutic methods, tailored to the needs and capabilities of the case studied, which has a geneticdefect – DiGeorge syndrome, and to describe the effects of the relief measures taken.The research is qualitative in nature, which was based on the individual casemethod. Empirical data was supplemented by techniques, i.e. free and guided observation of the child, individual interviews with therapists, as well as analysis of thechild’s diagnostic documentation.The analysis of the collected empirical material indicated that cooperation withvarious specialists, such as a speech therapist, a special educator and a sensory integration therapist, makes the therapy implemented as part of early development supportbring satisfactory, measurable results in the analyzed case. However, it is importantto emphasize that a child affected by DiGeorge syndrome requires further intensivecare, therapy and close cooperation of both specialists and parents to ensure betterfunctioning in the future.

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