Functionality and disease severity in spinocerebellar ataxias

Abstract

Background: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by deterioration of balance and functionality that tends to follow disease progression. There is no established link between formal clinical markers for severity and functional/balance scores that could guide rehabilitation teams. Objective: To evaluate the relationship between functional scales and ataxia severity in order to identify cutoff landmarks for functional loss and estimate the mean SARA (Scale for Assessment and Rating of Ataxia) score for the risk ratings for falls on the BBS (Berg Balance Scale). Methods: Consecutive patients with a molecular diagnosis of SCA (total 89: 31 with SCA2 and 58 with SCA3) were assessed for functionality FIM-ADL (Functional Independence Measure-activities of daily living and Lawton-IADL (instrumental activities of daily living), balance (BBS) and disease severity (SARA). Results: The main disability cutoff landmarks were that the need for supervision for FIM-ADL starts with 12 points on SARA and the need for supervision for Lawton-IADL starts with 14 points on SARA. The first items to require assistance were “expression” and “shopping”, respectively. At 20 points on SARA, patients were dependent on all FIM and Lawton items. The item with the greatest impact on distinguishing dependents from independents was “means of transport” in Lawton-IADL and the domain “locomotion” in FIM-ADL. The mean SARA score for patients classified as low risk in the BBS was 9.9 points, and it was 17.4 for medium risk and 25.2 for high risk. Conclusions: Analysis on the correlation between the severity of ataxia and functional scales can form an important guide for understanding the progression of functional dependence among individuals with SCAs.

Translation and cross-cultural adaptation of the Scale for the Assessment and Rating of ataxia to European Portuguese

“…As consequências ou sequelas decorrentes da ataxia dependem da localização e da extensão da lesão, sendo que na generalidade, incluem dificuldades funcionais que envolvem alterações no equilíbrio, na marcha, no alcance, na preensão e manipulação de objetos com o membro superior, movimentos oculares, deglutição e disartria, com consequente impacto na funcionalidade do individuo, designadamente no desempenho das atividades da vida diária e na mobilidade funcional (Briand et al, 2019;Cruz et al, 2022;Gagnon et al, 2018). Tendo em consideração que, geralmente, a ataxia é crónica e progressiva, e que resulta em múltiplas alterações na funcionalidade, é crucial uma abordagem terapêutica centrada numa equipa multidisciplinar que aborde as múltiplas limitações inerentes (Ahmedy et al, 2020;De Silva et al, 2019).…”

“…The consequences or sequelae resulting from ataxia depend on the location and extent of the lesion and generally include functional difficulties involving changes in balance, gait, reach, grasp and manipulation of objects with the upper limb, ocular movements, swallowing and dysarthria, consequently impacting the individual's functionality, notably in the performance of daily life activities and in functional mobility (Briand et al, 2019;Cruz et al, 2022;Gagnon et al, 2018). Given that ataxia is generally chronic and progressive and results in multiple changes in functionality, a therapeutic approach focused on a multidisciplinary team that addresses the multiple inherent limitations is crucial (Ahmedy et al, 2020;De Silva et al, 2019).…”