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

DOI:10.5281/zenodo.10050426
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.
References 1. Sotos JF, Dodge PR, Muirhead D., Crawford JD, Talbot NB. Cerebral gigantism in childhood: a syndrome of excessively rapid growth with acromegalic features and a nonprogressive neurologic disorder. New England Journal of Medicine. 1964; 271 (3): 109-116.
DOI: 10.1056/NEJM196407162710301.
2. Sheth K, Moss J, Hyland S, Stinton C, Cole T, Oliver C. The behavioral characteristics of Sotos syndrome. Am J Med Genet A. 2015; 167A(12): 2945-56.
DOI: 10.1002/ajmg.a.37373.
3. Ball LJ, Sullivan MD, Dulany S, Stading K, Schaefer GB. Speech-language characteristics of children with Sotos syndrome. Am J Med Genet A. 2005; 136A(4): 363-7.
DOI: 10.1002/ajmg.a.30799.
4. Lane C, Van Herwegen J, Freeth M. Parent-Reported Communication Abilities of Children with Sotos Syndrome: Evidence from the Children’s Communication Checklist-2. J Autism Dev Disord. 2019 Apr;49(4):1475-1483.
DOI: 10.1007/s10803-018-3842-0.
5. Faravelli F. NSD1 mutations in Sotos syndrome. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):24-31.
DOI: 10.1002/ajmg.c.30061.
6. Tatton – Brown K., Douglas J, Coleman K, Baujat G., Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Wagoner D, Turkmen S, Cormier- Daire V, Irrthum A, Rahman N, Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: analysis of 266 individuals with NSD1 aberrations. American Journal of Human Genetics. 2005; 77 (2): 193–204.
https :// doi . org /10.1086/432082
7. Tatton -Brown K, Cole T, Rahman N. Sotos Syndrome. In MP Adam (Eds.) et . al., GeneReviews® . Seattle: University of Washington; 2004.
8. Lane C, Milne E, Freeth M. Characteristics of Autism Spectrum Disorder in Sotos Syndrome. Journal of autism and developmental disorders. 2017; 47: 135–143. https://doi.org/10.1007/s10803-016-2941-z
9. Kessler H, Kraft S. Neuropsychiatrische Symptome bei Sotos-Syndrom Kasuistik und Literaturübersicht [Neuropsychiatric symptoms in Sotos syndrome. Case report and review of the literature]. Neuropsychiatr. 2008; 22(1): 38-42.
10. Holloway I, Galvin K. Qualitative research in nursing and healthcare. John Wiley & Sons; 2016.
11. Argyriadis A. The Ethnographic Research Method in Community Health: Current Needs for Qualitative approaches. International Journal of Caring Sciences. 2021; 14(3): 2036.
12. Babbie E R. The basics of social research. Cengage Learning; 2013.
13. Gioldasi O, Vlachou C, Argyriadis A, Argyriadi A. Case study of a patient family with multiple endocrine neoplasia syndrome. Evaluation of Stress levels. Review Clinical Pharmacology and Pharmacokinetics, International Edition. 2022; 36(1): 11-16.
14. Vlachou C, Argyriadis A, Argyriadi A. Self-Management of fear due to the Covid-19 pandemic and the changes it has brought to the every day life. Review Clinical Pharmacology and Pharmacokinetics, International Edition. 2022; 36(1): 17-22.
15. Terry G, Hayfield N, Clarke V, Braun V. Thematic analysis. In Willig C editor. The SAGE Handbook of qualitative research in psychology. SAGE Publications Ltd; 2017. p.17-36
https://www.doi.org/10.4135/9781526405555.n2
16. Spratt E, Mercer MA, Grimes A, Papa C, Norton J, Serpe A, Mueller M, Eckert M, Harris K, Blackmon L, Durant J, Newton J. Translating benefits of exercise on depression for youth with autism spectrum disorder and neurodevelopmental disorders. J Psychol Psychiatr. 2018; 2: 109.
17. Kütmeç Yilmaz C, Kara FŞ. The effect of spiritual well-being on adaptation to chronic illness among people with chronic illnesses. Perspect Psychiatr Care. 2021; 57(1): 318-325.
DOI: 10.1111/ppc.12566.
18. Argyriadi A, Argyriadis A. Health Psychology: Psychological Adjustment to the Disease, Disability and Loss. Imperial Journal of Interdisciplinary Research. 2019; 5(2): 109-116.
19. Yuan Y, Xu HW, Zhang S, Wang Y, Kitayama A, Takashi E, Gong WJ, Liang JY. The mediating effect of self-efficacy on the relationship between family functioning and quality of life among elders with chronic diseases. Nurs Open. 2021; 8(6): 3566-3574.
DOI: 10.1002/nop2.906.
20. Taylor RM, Gibson F, Franck LS. A concept analysis of health-related quality of life in young people with chronic illness. J Clin Nurs. 2008; 17(14): 1823-33.
DOI: 10.1111/j.1365-2702.2008.02379.x.
21. Zheng K, Bruzzese JM, Smaldone A. Illness acceptance in adolescents: A concept analysis. Nurs Forum. 2019; 54(4): 545-552.
DOI: 10.1111/nuf.12368.
22. Staunton E, Kehoe C, Sharkey L. Families under pressure: stress and quality of life in parents of children with an intellectual disability. Ir J Psychol Med. 2020; 28: 1-8.
DOI: 10.1017/ipm.2020.4.
23. Scherer N, Verhey I, Kuper H. Depression and anxiety in parents of children with intellectual and developmental disabilities: A systematic review and meta-analysis. PLoS One. 2019; 14(7): e0219888.
DOI: 10.1371/journal.pone.0219888.
24. Agorastos A, Demiralay C, Huber CG. Influence of religious aspects and personal beliefs on psychological behavior: focus on anxiety disorders. Psychol Res Behav Manag. 2014; 7: 93-101.
DOI: 10.2147/PRBM.S43666.
Relative Papers
pISSN 1011-6583 • eISSN 2945-1922
Tagged , , , , , , , , . Bookmark the permalink.

Comments are closed.