GONDIM, Cátia Sueli de Sousa Eufrazino. Quality of life in patients with mucopolysaccharidosis and relationship with anxiety, depression and stress in family caregivers. Doctoral Thesis (Doctorate in Clinical Psychology) – Institute of Psychology, University of São Paulo, São Paulo, 2024.
Disponível em: https://doi.org/10.11606/T.47.2024.tde-18122024-162528
Available on: Mucopolysaccharidoses (MPS) are a group of heterogeneous lysosomal storage diseases, wherein different enzymatic deficiencies lead to the accumulation of complex carbohydrates known as mucopolysaccharides or glycosaminoglycans (GAGs) within tissues. Patients experience a progressive and chronic course with multisystemic alterations that can impair the performance of daily living activities, such as feeding, dressing, and personal hygiene, necessitating assistance from family members most of the time. This condition affects the quality of life (QoL) of patients and, consequently, that of their family caregivers. The presence of a disease in the family brings a range of emotions, such as stress and anxiety, due to concerns about the severity of the disease, the suffering, and the possibility of death. As a result, caregivers experience various feelings, including fear, helplessness, vulnerability, insecurity, frustration, and even depression. Objective: The proposed objectives were: 1) to evaluate the QoL of patients with MPS; 2) to investigate symptoms of depression, stress, and anxiety in the caregivers of these patients; 3) to correlate the patients’ quality of life with the presence of depression, anxiety, and stress in caregivers; and 4) to intervene among caregivers by stimulating emotional communication in an intersubjective context for understanding the social representation and collective imagery (regarding being a caregiver of a patient with mucopolysaccharidosis). To conduct the research, the Thematic Drawing-and-Story Procedure [D-E (T)] was applied. A descriptive, prospective, and analytical observational study was conducted to evaluate the QoL in patients with MPS using the EQ-5D-3L (simplified version for adults) and the EQ-5D-Y (version for children and adolescents), and assessing symptoms of depression, anxiety, and stress using the Brazilian version of the Depression, Anxiety, and Stress Scale (DASS-21). Twenty patients with MPS and their respective caregivers were evaluated. Results: The results showed that 30% of the patients had mobility problems, and more than half were unable to perform some daily living activities, such as bathing and dressing, without assistance from others; nonetheless, over 50% considered their health to be good or very good. Regarding family caregivers, there was a predominance of female caregivers, primarily mothers. It was observed that family caregivers of patients with MPS older than 16 years presented some symptoms of depression, anxiety, and stress. Symptoms of depression and anxiety were found in family caregivers, associated with some degree of pain or discomfort evaluated by the QoL instrument in child and adolescent patients, as well as in adult patients. Conclusion: It is concluded that QoL can interfere with the mental health of the caregiver.