Problemy zdrowotne dziecka z zespołem Williamsa-Beurena

*Anna Stefanowicz¹, Magdalena Hajducka²,Maria Krajewska¹, Aneta Kołodziejska¹

Summary
Williams-Beuren syndrome is a rare genetic disease caused by the spontaneous deletion within chromosome 7. Its occurrence is estimated to be 1:10 000-1:30 000 alive births.
Patients with Williams-Beuren syndrome have health and psychological problems. The characteristic features that most people with Williams-Beuren syndrome have are specific appearance, curiosity, friendly disposition, good communication skills, unbounded trust and empathy. People with Williams-Beuren syndrome are able to fully recognize the emotions of others. Nearly all patients have intellectual disability, and a reduced level of cognitive and socio-emotional functioning. The treatment includes comprehensive patient care and the use of appropriate medications.
The aim of the study is to present the nursing problems of the child with Williams-Beuren syndrome, and daily difficulties in the functioning of the child with Williams-Beuren syndrome.
The case concerns a 4-year-old girl with Williams-Beuren syndrome with a mild degree of mental disability. After analysing medical records and during direct contact with the child and their family various health and psychological problems were observed.
This paper describes physical and psychomotor development of the child, and the difficulties encountered by the sick child and their family in everyday life.

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