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Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives
C R Cecchin1, A P Pires, C R Rieder
1Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Insights
Depression is common in Machado-Joseph disease (MJD) patients and their spouses. Depressive symptoms correlate with motor incapacitation in MJD patients, suggesting a reactive rather than primary disease link.
Area of Science:
- Neuroscience
- Psychiatry
- Genetics
Background:
- Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is a progressive neurodegenerative disorder.
- Depression is a common comorbidity in neurodegenerative diseases, impacting patient quality of life and caregiver burden.
Purpose of the Study:
- To assess depression scores in MJD patients, their spouses, and at-risk individuals.
- To investigate the correlation between depressive symptoms and motor incapacitation in MJD patients.
Main Methods:
- A cross-sectional study involving 246 participants: MJD patients, their spouses, individuals at risk for MJD, and a multiple sclerosis control group.
- Utilized the Beck Depression Inventory and the Barthel index of physical incapacitation.
Main Results:
- 33.5% of MJD family members reported moderate to severe depressive scores, with a significant linear reduction in risk groups.
- A direct correlation was observed between depression scores and motor incapacitation in MJD patients (r = 0.507, p < 0.0001).
- Depression was associated with age and female sex in MJD families.
Conclusions:
- Depressive symptoms are prevalent in MJD patients and their spouses, indicating a significant caregiver burden.
- Depression in MJD appears to be a reactive response to the disease and its impact, rather than a primary feature of the disease process.
Objectives:
It was the aim of this study to determine the depression scores of Machado-Joseph disease (MJD) patients, their spouses, and individuals at 50% risk for MJD, and second, to verify the existence of a correlation between depressive symptoms and the degree of motor incapacitation.
Subjects And Methods:
Two hundred and forty-six individuals aged > or =18 years were studied: 79 MJD patients (group 1), 43 spouses of MJD patients (group 2), 80 individuals at risk for MJD (group 3), and a control group (group 4) composed of 44 patients with multiple sclerosis (MS). The following two tools were applied: the Beck Depression Inventory and the Barthel index of physical incapacitation, both in an adapted Brazilian Portuguese version.
Results:
Moderate to severe depressive scores were found in 33.5% of patients in the MJD families, in 16.3% of the spouses, and in 6.3% of the individuals at risk. This linear reduction between MJD family members was statistically significant (p < 0.0001, ANOVA). Depressive scores were also associated with age and the female sex. A direct correlation between Beck Depression Inventory scores and motor incapacitation was found in MJD patients (r = 0.507, Pearson correlation, p < 0.0001). Although the depressive symptoms in the control group with MS were higher than those found in MJD patients (59% of MS patients showed moderate to severe scores), depression did not correlate with physical incapacitation, age, or education attainment in the MS group.
Conclusions:
Depressive symptoms are rather common in MJD patients and in their spouses (caregivers). In this condition, depression seemed to be more reactive than primarily related to the disease process itself.
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