Abstract

Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life. OT is part of the clinical rehabilitation of progressive genetic neurodegenerative diseases such as spinocerebellar ataxias; however, its effects have never been determined in these diseases. Our aim was to investigate the effect of OT on both physical disabilities and depressive symptoms of spinocerebellar ataxia type 3 (SCA3) patients. Genomically diagnosed SCA3 patients older than 18 years were invited to participate in the study. Disability, as evaluated by functional independence measurement and Barthel incapacitation score, Hamilton Rating Scale for Depression, and World Health Organization Quality of Life questionnaire (WHOQOL-BREF), was determined at baseline and after 3 and 6 months of treatment. Twenty-six patients agreed to participate in the study. All were treated because OT prevents blinding of a control group. Fifteen sessions of rehabilitative OT were applied over a period of 6 months. Difficult access to food, clothing, personal hygiene, and leisure were some of the main disabilities focused by these patients. After this treatment, disability scores and quality of life were stable, and the Hamilton scores for depression improved. Since no medication was started up to 6 months before or during OT, this improvement was related to our intervention. No association was found between these endpoints and a CAG tract of the MJD1 gene (CAGn), age, age of onset, or neurological scores at baseline (Spearman test). Although the possibly temporary stabilization of the downhill disabilities as an effect of OT remains to be established, its clear effect on depressive symptoms confirms the recommendation of OT to any patient with SCA3 or spinocerebellar ataxia.

Highlights

  • Spinocerebellar ataxia 3 (SCA3), known as Machado-Joseph disease, is a rare neurodegenerative disease caused by expansions of a CAG tract of the MJD1 gene [1,2,3]

  • In order to identify the role of Occupational therapy (OT) in SCA3, the present study describes the disabilities associated with the disease, the effect of occupational therapy on these disabilities, on depressive symptoms and on quality of life, and the possible associations of these endpoints with risk factors, such as a CAG tract of the MJD1 gene (CAGn) and age of onset

  • Twenty-six individuals entered the study. They all had the same geographical and urban origin and lived in Rio Grande do Sul, Brazil, where SCA3 cases seem to be limited to persons of Azorean ancestry and to the ancestral haplotype A-C-A [22]

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Summary

Introduction

Spinocerebellar ataxia 3 (SCA3), known as Machado-Joseph disease, is a rare neurodegenerative disease caused by expansions of a CAG tract of the MJD1 gene [1,2,3]. The expanded allele is dominant, and there is an important correlation of the repeat amplification with both symptom severity and age at onset in affected individuals. SCA3 affects at least 3:100,000 individuals in the Brazilian population [4]. SCA3 is a highly disabling disease, which imposes a severe burden on the patients and their families. Clinical manifestations usually start during adulthood, with a mean (± SD) age at onset of 32 ± 12 years [5]. Patients end up confined to a wheelchair and later become bedridden [6]. Age at onset distribution is very wide and ranges between 5 and 73 years [6]. Median survival time after onset is 21 years [7]

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