Selected forms of therapy of a child with DiGeorge syndrome. A case study
DiGeorge syndrome is a genetically determined birth defect syndrome with an estimated incidence of once every 3,000-5,000 births. Among the most characteristic symptoms are features of facial dysmorphia, abnormalities of intellectual development and speech, as well as dysfunction of many organ syste...
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Akademia Nauk Stosowanych WSGE im. A. De Gasperi w Józefowie
2025-04-01
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| Series: | Journal of Modern Science |
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| Online Access: | https://www.jomswsge.com/Wybrane-formy-terapii-dziecka-z-zespolem-Di-George-a-Studium-przypadku,202618,0,2.html |
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| author | Edyta Ewelina Osękowska Natalia Malik Malwina Dąbek Magdalena Maria Skalny |
| author_facet | Edyta Ewelina Osękowska Natalia Malik Malwina Dąbek Magdalena Maria Skalny |
| author_sort | Edyta Ewelina Osękowska |
| collection | DOAJ |
| description | DiGeorge syndrome is a genetically determined birth defect syndrome with an estimated incidence of once every 3,000-5,000 births. Among the most characteristic symptoms are features of facial dysmorphia, abnormalities of intellectual development and speech, as well as dysfunction of many organ systems. Despite the relatively high incidence 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 genetic defect - DiGeorge syndrome, and to describe the effects of the relief measures taken.
The research is qualitative in nature, which was based on the individual case method. Empirical data was supplemented by techniques, i.e. free and guided observation of the child, individual interviews with therapists, as well as analysis of the child's diagnostic documentation.
The analysis of the collected empirical material indicated that cooperation with various specialists, such as a speech therapist, a special educator and a sensory integration therapist, makes the therapy implemented as part of early development support bring satisfactory, measurable results in the analyzed case. However, it is important to emphasize that a child affected by DiGeorge syndrome requires further intensive care, therapy and close cooperation of both specialists and parents to ensure better functioning in the future. |
| format | Article |
| id | doaj-art-d201567fb85b4b77b2f6a9e15407869a |
| institution | OA Journals |
| issn | 1734-2031 2391-789X |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Akademia Nauk Stosowanych WSGE im. A. De Gasperi w Józefowie |
| record_format | Article |
| series | Journal of Modern Science |
| spelling | doaj-art-d201567fb85b4b77b2f6a9e15407869a2025-08-20T02:12:37ZengAkademia Nauk Stosowanych WSGE im. A. De Gasperi w JózefowieJournal of Modern Science1734-20312391-789X2025-04-0161150452310.13166/jms/202618202618Selected forms of therapy of a child with DiGeorge syndrome. A case studyEdyta Ewelina Osękowska0https://orcid.org/0000-0002-1724-3338Natalia Malik1https://orcid.org/0000-0003-3620-2256Malwina Dąbek2https://orcid.org/0000-0002-1370-2015Magdalena Maria Skalny3https://orcid.org/0000-0002-8248-1201University of the National Education Commission, KrakowUniversity of the National Education Commission, KrakowUniversity of the National Education Commission, KrakowUniversity of the National Education Commission, KrakowDiGeorge syndrome is a genetically determined birth defect syndrome with an estimated incidence of once every 3,000-5,000 births. Among the most characteristic symptoms are features of facial dysmorphia, abnormalities of intellectual development and speech, as well as dysfunction of many organ systems. Despite the relatively high incidence 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 genetic defect - DiGeorge syndrome, and to describe the effects of the relief measures taken. The research is qualitative in nature, which was based on the individual case method. Empirical data was supplemented by techniques, i.e. free and guided observation of the child, individual interviews with therapists, as well as analysis of the child's diagnostic documentation. The analysis of the collected empirical material indicated that cooperation with various specialists, such as a speech therapist, a special educator and a sensory integration therapist, makes the therapy implemented as part of early development support bring satisfactory, measurable results in the analyzed case. However, it is important to emphasize that a child affected by DiGeorge syndrome requires further intensive care, therapy and close cooperation of both specialists and parents to ensure better functioning in the future.https://www.jomswsge.com/Wybrane-formy-terapii-dziecka-z-zespolem-Di-George-a-Studium-przypadku,202618,0,2.htmltherapycase studysensory integrationspeech therapydigeorge syndromepedagogical therapy |
| spellingShingle | Edyta Ewelina Osękowska Natalia Malik Malwina Dąbek Magdalena Maria Skalny Selected forms of therapy of a child with DiGeorge syndrome. A case study Journal of Modern Science therapy case study sensory integration speech therapy digeorge syndrome pedagogical therapy |
| title | Selected forms of therapy of a child with DiGeorge syndrome. A case study |
| title_full | Selected forms of therapy of a child with DiGeorge syndrome. A case study |
| title_fullStr | Selected forms of therapy of a child with DiGeorge syndrome. A case study |
| title_full_unstemmed | Selected forms of therapy of a child with DiGeorge syndrome. A case study |
| title_short | Selected forms of therapy of a child with DiGeorge syndrome. A case study |
| title_sort | selected forms of therapy of a child with digeorge syndrome a case study |
| topic | therapy case study sensory integration speech therapy digeorge syndrome pedagogical therapy |
| url | https://www.jomswsge.com/Wybrane-formy-terapii-dziecka-z-zespolem-Di-George-a-Studium-przypadku,202618,0,2.html |
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