Publications by authors named "Annemarie Rohwer"
Article Synopsis
- Spinal muscular atrophy (SMA) is a genetic disorder resulting from mutations in the SMN1 gene, with a study aiming to track changes in motor function over 4 years using the Hammersmith Functional Motor Scale Expanded (HFMSE).
- The research involved analyzing data from multiple countries, focusing on factors like age, functional status, and the number of SMN2 gene copies in SMA types II and III.
- Results showed SMA type II patients had a mean decline of -2.20 points, while type III experienced a -2.75 point decline over 4 years, with age and baseline scores being significant predictors of these changes, suggesting the need for detailed assessment in specific SMA subgroups.
Background And Objectives: Nusinersen has shown significant functional motor benefit in the milder types of spinal muscular atrophy (SMA). Less is known on the respiratory outcomes in patients with nusinersen-treated SMA. The aim of this study was to describe changes in respiratory function in pediatric patients with SMA type 2 and 3 on regular treatment with nusinersen within the iSMAc international cohort and to compare their trajectory with the natural history (NH) data published by the consortium in 2020.
View Article and Find Full Text PDFDetermining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
Eur J Neurol
August 2024
Background And Purpose: Spinal muscular atrophy (SMA) is a rare and progressive neuromuscular disorder with varying severity levels. The aim of the study was to calculate minimal clinically important difference (MCID), minimal detectable change (MDC), and values for the Hammersmith Functional Motor Scale Expanded (HFMSE) in an untreated international SMA cohort.
Methods: The study employed two distinct methods.
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS).
Objective: In this study, we present longitudinal trajectories for the RHS in an international cohort of 149 untreated paediatric SMA 2 and 3 patients (across 531 assessments collected between March 2015 and July 2019).
Introduction/aims: Current upper limb assessments in pediatric spinal muscular atrophy (SMA) may not adequately capture change with disease progression. Our aim was to examine the relationship between motor function, strength, and hand/finger mobility of the upper limb in treatment-naïve children with SMA Types 2 and 3 to assess new methods to supplement current outcomes.
Methods: The Revised Upper Limb Module (RULM), grip and pinch strength, and hand/finger mobility data were collected from 19 children with SMA Types 2 and 3 aged 5.
Article Synopsis
- Fatigue and performance fatigability are significant issues in Spinal Muscular Atrophy (SMA) that negatively affect patients' quality of life and daily functioning.
- The review evaluates existing patient-reported fatigue scales used in SMA, analyzing their strengths and weaknesses.
- It suggests creating new patient-reported measures to better assess perceived fatigability, which could improve the evaluation of treatment effects.
The aim of the study was to establish 24-month changes in a large cohort of type II and III spinal muscular atrophy (SMA) patients assessed with the Revised Upper Limb Module (RULM), a tool specifically developed to assess upper limb function in SMA. We included 107 patients (54 type II and 53 type III) with at least 24-months follow up. The overall RULM 24-month changes showed a mean decline of -0.
View Article and Find Full Text PDFIntroduction/aims: Spinal muscular atrophy (SMA) type III is a relatively mild form of SMA. Few studies have investigated the changes in both respiratory and upper limb function within this population after loss of ambulation. The aim of this study was to assess change in percentage of predicted forced vital capacity (FVC% predicted) and change in the Revised Upper Limb Module (RULM) score in these patients throughout a 24-month period after loss of ambulation.
View Article and Find Full Text PDFIntroduction: The Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM) have been widely used in natural history studies and clinical trials. Our aim was to establish how the scales relate to each other at different age points in spinal muscular atrophy (SMA) type 2 and 3, and to describe their coherence over 12 mo.
Methods: The study was performed by cross-sectional and longitudinal reanalysis of previously published natural history data.
Objective: We report longitudinal data from 144 type III SMA pediatric and adult patients treated with nusinersen as part of an international effort.
Methods: Patients were assessed using Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and 6-Minute Walk Test (6MWT) with a mean follow-up of 1.83 years after nusinersen treatment.