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

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.