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Revista Cubana de Pediatría

versão impressa ISSN 0034-7531versão On-line ISSN 1561-3119

Resumo

MARTINEZ FRANCO, Dennys Stella; DE LA ROSA, Elisama Beltrán  e  BILBAO RAMIREZ, Jorge Luis. Interdisciplinary intervention in a pacient diagnosed with Prader-Willi síndrome. Rev Cubana Pediatr [online]. 2019, vol.91, n.2, e538. ISSN 0034-7531.

Introduction:

Prader-Willi syndrome is a genetic disease caused by de novo deletions in the 15q11q13 region in the paternal chromosome. It is characterized by lack of satiety leading to morbid obesity, behavioral disorders, intellectual disability, short height and hypogonadism.

Objective:

To describe the results obtained from the multidisciplinary analysis and intervention performed in a patient diagnosed with Prader-Willi syndrome.

Presentation of the clinical case:

Clinical case analysis in an 8 years old child, male sex, diagnosed with Prader-Willi syndrome through a multidisciplinary intervention performed in three moments: assessment, diagnosis and intervention with cognitive behavioral approach.

Conclusions:

The strategies adopted generated significant changes in the social and family context, family´s appropriation of the recommendations provided, adoption of protective factors, roles identification and improving of adherence to treatment. By taking into account this considerations, improvements lead to clinic and life quality of the patient.

Palavras-chave : hypogonadism; de novo deletions; cognitive behavioral; adherence.

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