Evaluation of the influence of clinical symptoms on the quality of life in individuals with Williams-Beuren Syndrome

• Main Authors: Andrea Parolin Jackowski, Rosana Aparecida Salvador Rossit, Carolina Grego Del Cole
• Format: Article
• Language: English
• Published: Universidade Federal de São Carlos 2017-03-01
• Series: Cadernos de Terapia Ocupacional
• Subjects: Williams-Beuren Syndrome; Clinical Symptoms; Quality of Life.
• Online Access: http://www.cadernosdeterapiaocupacional.ufscar.br/index.php/cadernos/article/view/1411/824
• ISSN: 0104-4931; 0104-4931

Introduction: Williams-Beuren Syndrome (WBS) results from a deletion in the chromosome 7q11.23. Psychiatric symptoms, such as Generalized Anxiety Disorder (GAD), Attention Deficit Hyperactivity Disorder (ADHD), and others, have been described in this syndrome. Objective: The main purpose of this study was to identify related clinical symptoms in individuals with WBS and the impact of this disorder in their quality of life. Method: The study sample included 42 individuals aged 11 to 16 years divided into two groups: a study group composed of 20 individuals with WBS and a control group comprising 22 individuals with typical development. The following instruments were used in this evaluation: Brazilian Criterion of Economic Classification (CCEB), to estimate the purchasing power of urban households; Strengths & Difficulties Questionnaire (SDQ), to provide a useful measure of psychopathology applied to children and youth aged 4-17 years; and Quality of Life Evaluation Scale (AUQEI), to assess the feeling of well-being according to the opinion of the child and adolescent. Results: The results suggest that adolescents with WBS have a good quality of life despite presenting greater possibilities of psychiatric symptoms. These results are valid considering that quality of life is measured from the opinion of the assessed individual. Conclusion: We hypothesized that adolescents with WBS can present a distortion of reality regarding the positive/optimistic factor, possibly based on some characteristics of the syndrome such as being always cheerful and smiling, which are factors associated with intellectual disability.