Τόμος 36 (2022) – Τεύχος 2-3 –Άρθρο 2 – Review of Clinical Pharmacology and Pharmacokinetics – Διεθνής Έκδοση – Volume 36 (2022) – Issue 2-3 – Article 2 – Review of Clinical Pharmacology and Pharmacokinetics – International Edition

By | | Πλήρες Κείμενο στα Αγγλικά - Full Text in English
Title

Sotos Syndrome: An assessment of stress levels of the patient and the family. The response to disability and developmental diversity
Author

Dimitra Theodoropoulou, Chrisi Vlachou, Alexandros Argyriadis, Agathi Argyriadi

Schimatari Health Center, Attica, Greece
School of Health Sciences, Frederick University, Cyprus
Department of Psychology, Frederick University, Cyprus
Citation

D. Theodoropoulou, Ch. Vlachou, A. Argyriadis, A. Argyriadi. Sotos Syndrome: An assessment of stress levels of the patient and the family. The response to disability and developmental diversity. Review Clin. Pharmacol. Pharmacokinet. 2022, 36, 2-3, 37-42. DOI:10.5281/zenodo.10050426
Publication Date
Republication Date
23-12-2022
28-10-2023
Full Text Language

English
Keywords
Sotos syndrome, hyper development, mental delay, family, stress
Other Terms

Research Article
Summary
 Introduction: Sotos syndrome is a rare genetic condition inherited in an autosomal dominant manner and caused by deletions or mutations of the NSD-1 gene located on chromosome 5q35. It is characterized by overgrowth in childhood, associated with mental delay and the predominant phenotypic feature is a facial deformity. The prevalence of births of children with Sotos syndrome is estimated to be 1 in 5,000.
Aim: This study aimed to evaluate the stress levels experienced by a patient with Sotos syndrome and his family. In addition, an attempt was made to study the evolution and experience of the feeling of stress over time, as well as the strategies used to deal with it.
Method: For this research, the case study method was used with a18-year-old participant suffering from Sotos syndrome and his father. Information was collected by semi-structured interview, using an interview guide with open-ended questions. Participants were informed of the anonymity and confidentiality of their participation and a signed consent was obtained. The analysis of data was carried out using the thematic content analysis method.
Results: The patient had medical comorbidities and mental delay, that cause increased parental stress, which, however, decreases over time.
Conclusions: Several studies describe the psychosomatic characteristics of people with Sotos syndrome, but there are no studies to evaluate stress experienced by these people and their families. However, further research is recommended.
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