Validation of the Italian Version of the Scale for the Assessment and Rating of Ataxia (SARA) in Multiple Sclerosis: A Cross-Sectional Study

The Cerebellum, Год журнала: 2025, Номер 24(3)

Опубликована: Март 19, 2025

Abstract Multiple sclerosis (MS) is a chronic neurodegenerative disorder often associated with cerebellar ataxia. Accurate assessment of ataxia crucial for monitoring disease progression and guiding rehabilitation. The Scale the Assessment Rating Ataxia (SARA) clinician-reported outcome measure (ClinRO) designed to evaluate severity. This study aimed translate, culturally adapt, validate Italian version SARA in individuals MS. follows cross-sectional design was conducted at Neurorehabilitation Unit Sapienza University Rome. translation followed ISPOR ISOQOL guidelines ensure linguistic cultural equivalence. Psychometric properties evaluation included internal consistency (Cronbach’s alpha), test-retest reliability (intraclass correlation coefficient [ICC]), construct validity (correlation Berg Balance [BBS], Mini-Balance Evaluation Systems Test [Mini-BESTest], Timed Up Go [TUG] test), cross-cultural validity. Seventy-five MS patients (EDSS ≤ 6.5) were recruited. demonstrated excellent alpha = 0.855) (ICC 0.993). Strong negative correlations found BBS ( r -0.838, p < 0.001) Mini-BESTest -0.767, 0.001), supporting Significant differences emerged based on age, employment status, EDSS scores. valid reliable tool assessing severity Its strong psychometric support its use clinical research settings. Future studies should explore responsiveness rehabilitation interventions.

Язык: Английский

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Hereditary Ataxias in Argentina

The Cerebellum, Год журнала: 2025, Номер 24(3)

Опубликована: Апрель 8, 2025

Язык: Английский

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Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)

The AAPS Journal, Год журнала: 2024, Номер 26(3)

Опубликована: Апрель 30, 2024

Abstract The aim of this study was to develop a model predict individual subject disease trajectories including parameter uncertainty and accounting for missing data in rare neurological diseases, showcased by the ultra-rare Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS). We modelled change SARA (Scale Assessment Rating Ataxia) score versus Time Since Onset symptoms using non-linear mixed effect models population 173 patients with ARSACS included prospective real-world multicenter Autosomal Recessive Cerebellar (ARCA) registry. used Multivariate Imputation Chained Equation (MICE) algorithm impute covariates, covariate selection procedure pooled p-value account multiply imputed sets. then investigated impact covariates on prediction up 5 years after their last visit. A four-parameter logistic function selected. Men were estimated have 25% lower at onset moderately higher maximum score, time progression (T50) be 35% age over 15 years. rate started slowly 0.1 points per year peaking 0.8 (at 36.8 since symptoms). intervals scores visit large (median 7.4 points, Q1-Q3: 6.4–8.5); size mostly driven that time. Graphical

Язык: Английский

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Multifeature quantitative motor assessment of upper limb ataxia including drawing and reaching

Annals of Clinical and Translational Neurology, Год журнала: 2024, Номер 11(5), С. 1097 - 1109

Опубликована: Апрель 8, 2024

Abstract Objective Voluntary upper limb movements are an ecologically important yet insufficiently explored digital‐motor outcome domain for trials in degenerative ataxia. We extended and validated the trial‐ready quantitative motor assessment battery “Q‐Motor” with clinician‐reported, patient‐focused, performance outcomes of Methods Exploratory single‐center cross‐sectional 94 subjects (46 cross‐genotype ataxia patients; 48 matched controls), comprising five tasks measured by force transducer and/or position field: Finger Tapping, diadochokinesia, grip‐lift, and—as novel implementations—Spiral Drawing, Target Reaching. Digital‐motor measures were selected if they discriminated from controls (AUC >0.7) correlated—with at least one strong correlation (rho ≥0.6)—to Scale Assessment Rating Ataxia (SARA), activities daily living (FARS‐ADL), Nine‐Hole Peg Test (9HPT). Results Six movement features 69 met selection criteria, including speed variability all tasks, stability efficiency The drawing/reaching best captured impairment dexterity (|rho 9HPT | ≤0.81) FARS‐ADL items ADLul ≤0.64), particularly kinematic analysis smoothness (SPARC). hit rate , a composite endpoint precision almost perfectly (AUC: 0.97). Selected between mild, moderate, severe (SARA composite: 0–2/>2–4/>4–6) correlated severity trial‐relevant mild stage ≤10, n = 20). Interpretation Q‐Motor captures multiple impaired Validation key clinical domains provides basis evaluation longitudinal studies trial settings.

Язык: Английский

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Longitudinal Analysis of Natural History Progression of Rare and Ultra‐Rare Cerebellar Ataxias Using Item Response Theory

Clinical Pharmacology & Therapeutics, Год журнала: 2024, Номер 116(6), С. 1593 - 1605

Опубликована: Окт. 15, 2024

Degenerative cerebellar ataxias comprise a heterogeneous group of rare and ultra‐rare genetic diseases. While disease‐modifying treatments are now on the horizon for many ataxias, robust trial designs analysis methods lacking. To better inform designs, we applied item response theory (IRT) modeling to evaluate natural history progression several assessed with widely used scale assessment rating ataxia (SARA). A longitudinal IRT model was built utilizing real‐world data from large autosomal recessive (ARCA) registry. Disease evaluated overall cohort as well 10 most common ARCA genotypes. Sample sizes were calculated simulated trials spastic Charlevoix–Saguenay (ARSACS) polymerase gamma (POLG) ataxia, showcased, across multiple design scenarios. Longitudinal models able describe changes in latent variable underlying SARA function time since onset both The typical rates varied genotypes between relatively high POLG (~ 0.98 points/year at = 20) very low COQ8A 0.003 20). Smaller required case faster progression, longer 75–90% less 5 years vs. 2 years), larger drug effects 70–80% 100% 50% inhibition). Simulating under developed model, had highest power, well‐controlled type I error, compared total score or end‐of‐treatment analyses. established framework allows efficient utilization ultimately facilitates treatment ataxias.

Язык: Английский

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CRPD frontiers in movement disorders Therapeutics: From evidence to treatment and applications

Clinical Parkinsonism & Related Disorders, Год журнала: 2024, Номер 10, С. 100255 - 100255

Опубликована: Янв. 1, 2024

The genetic ataxias have no cures and proven ways to delay progression (no disease-modifying therapies). acquired may treatments that address the underlying cause slow or stop progression, but will not reverse damage already sustained. idiopathic (of unknown cause) also therapies. However, for all patients with ataxia of any cause, there is always something can be done improve quality life-treat associated symptoms, provide information resources, counsel patient family, help insurance disability concerns, available listen answer many questions they have.

Язык: Английский

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Modeling disease progression in spinocerebellar ataxias

medRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Май 31, 2024

Abstract Background and objectives The most common autosomal-dominantly inherited spinocerebellar ataxias (SCA), SCA1, SCA2, SCA3 SCA6, account for more than half of all SCA families. Disease course is characterized by progressive ataxia additional neurological signs. Each these SCAs caused a CAG repeat expansion, leading to an expanded polyglutamine stretch in the resulting type-specific protein. To comparatively investigate determinants disease progression, we analyzed demographic genetic data three-year clinical time courses symptoms. aim was provide tailored marker candidates prediction models support monitoring trial design. Methods analyze relationships among different symptoms, examined co-occurrence patterns deterioration events. Predicting progression treated as survival analysis problem. Results set contained 1538 subjects from five longitudinal cohorts 3802 visits. pattern symptoms that showed varied with type. Mining revealed Scale Assessment Rating Ataxia (SARA) sum score be representative descriptor reflecting majority other included We trained predicting each symptom type features, age at baseline visit. universal predictors SARA score, gait length allele. Finally, staging studied detail: For milestones deterioration, (i) need use walking aids (ii) requirement wheelchair, discovered well diverging predictive markers. interpretability, decision tree built indicate probability within 3 years dependence top features. Discussion Data-driven approaches are potent tools identify main contributing features prediction. Progression events stage were predictable status. Remarkably, limited number had importance, only few shared four types, including confirming models.

Язык: Английский

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Goal‐Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single‐Blind, Randomized Controlled Superiority Trial

Annals of Neurology, Год журнала: 2024, Номер unknown

Опубликована: Ноя. 9, 2024

Rehabilitation is thought to reduce ataxia severity in individuals with hereditary cerebellar (HCA). This multicenter, randomized controlled superiority trial aimed examine the efficacy of a 30-week goal-directed rehabilitation program compared 30 weeks standard care on function, ataxia, health-related quality life, and balance an HCA.

Язык: Английский

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Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension

Neurology and Therapy, Год журнала: 2024, Номер unknown

Опубликована: Дек. 30, 2024

Friedreich Ataxia (FA) is a multisystem neurodegenerative disease. Affected individuals rely on mobility assistive technologies (MAT) (e.g. wheelchairs) and require long-term treatments care. To analyse the patients' health-related quality of life (HRQoL), EuroQol 5 Dimension 3 Level survey (EQ-5D-3L)-a widely used recommended generic measure-is in clinical health economic studies. Concerns about using instrument mobility-impaired who might have difficulties finding appropriate response options for mobility-related items led us to investigate how 3L dimensions perform patients with FA or not MAT.

Язык: Английский

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