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ObjectiveBased on Hammersmith Function Motor Scale Expanded （HFMSE），the study aimed at constructing item response model （IRM） to evaluate the functioning of patients with spinal muscular atrophy （SMA） and exploring the metrical characteristics of HFMSE.MethodsWe recruited 23 SMA patients who received corrective treatment in the Department of Geriatric Neurology and the Department of Pediatrics of the First Affiliated Hospital with Nanjing Medical University from February 2021 to June 2023. IRM was constructed using these repeated measurement data based on stack design［1］. ，The comparisons between well-fitted models were based on likelihood ratio. And item guessing，carelessness，difficultyand personal abilities （θ） of selected optimal model were calculated. Differential test functioning （DTF） test was conducted for gender and rehabilitation therapy to test the bias. Monte Carlo simulation was used to prove that the item difficulty distribution of the model was not affected by the sampling process. And person-item plot was drawn according to the median expected difficulty. and the differences in the difficulty of each item in HFMSE scale and personal abilities among each evaluations were discussed.ResultsA total of 32items were included in this study and 4 alternative models were constructed. Three-parametric logistic model was selected as the optimal model with the best fitness （p > 0. 05，M2 statistics = 479. 75）. In 3PLM，the caution of all items was 1，and the discrimination，guessing and difficulty of the items were calculated. There were no DTFs for gender and rehabilitation therapy. The results showed high reliability （Cronbach's α = 0. 955，LCRC = 0. 981） and validity ［θ value is positively correlated with the original total score （P-5TTS2. A person-item plot showing the location of item parameters and individual parameters on the personal abilities （θ） scale was used to observe the relationship between θ values and item difficulties.ConclusionThe IRT model based on HFMSE offered a new approach to evaluate functional levels of SMA patients and difficulties of items. The calculation of item guessing，carelessness and difficulty of selected optimal model provides recommendations for better clinical practice of HFMSE. The study offers a new perspective for the assessment of the functions of SMA patients and guidance for the development of rehabilitation programs.

Introduction: Nusinersen was effective in improving motor function and survival in infantile and childhood-onset spinal muscular atrophy (SMA), and the value of real-world experiences in adult SMA patients increase gradually. Here, we present our clinical experience in adult SMA patients treated with nusinersen according to CHERISH study. Material and methods: Thirty-two SMA patients treated with nusinersen were included in the study. Results: Median age at nusinersen initiation was 33.5 (20.0–60.0) years and 23 of SMA patients were male. Six (18.8%) patients had SMA type 2, and 26 (81.2%) had SMA type 3. Median follow-up period of patients under nusinersen treatment was 17 months (9–21). Twenty-three patients improved by at least 3 Hammersmith Functional Motor Scale Expanded (HFMSE) points after loading doses. There was significant HFMSE score increase in type 3 patients at each time point, whereas type 2 patients seem to benefit from nusinersen loading doses, subsequently stayed stable. Motor improvement was positively correlated with baseline HFMSE scores in patients whose baseline HFMSE scores were ≤47. There was a correlation between the changes in Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALSFRS-R) score and HFMSE scores. Ambulatory patients who could not show clinically meaningful increase in HFMSE scores improved at least 30 m by 6-min walk test (6MWT). Conclusion: Overall, 78% of patients have responded to treatment according to HFMSE or 6MWT. ALSFRS-R and 6MWT may be alternative tools to monitor nusinersen effect. [ABSTRACT FROM AUTHOR]

Background: Spinal muscular atrophy (SMA) issues from mutations in the survival of motor neuron (SMN) 1 gene. Loss or reduction of the SMN protein results in progressive muscle weakness. Whether this protein deficiency also affects cortical function remains unclear. While no data on adult patients exists so far, prior studies in children with SMA indicate cognitive abilities equal or even superior to healthy controls. This may suggest a possible compensatory-neuropsychological and interactional-process. The goal of this study was to assess the cognitive profile of adult patients with SMA, with a special focus on social cognition as a potential candidate for enhanced cognitive function through compensatory processes.Methods: In a cross-sectional design, N = 31 adult SMA patients (types II and III) were assessed for language, verbal fluency, memory, visuospatial abilities and executive function with the Edinburgh Cognitive and Behavioural ALS Screen and for social cognition with the Reading the Mind in the Eyes Test. Physical function was evaluated using the Hammersmith Functional Motor Scale Expanded. N = 19 neurologically healthy controls were matched with patients for age, sex and years of education.Results: In none of the abovementioned cognitive domains significant differences between SMA patients and controls were found. Among patients, no differences between type II SMA and type III SMA were detected for any domain. However, a trend towards better social cognition in patients with type II SMA, compared to those with type III SMA was observed. Furthermore, a significant inverse correlation of physical function and executive function was detected: lower motor function was associated with a better executive function.Conclusions: This study shows cognitive abilities in adult SMA in the normal range for all assessed domains. Thus, reduction of SMN protein has no obvious negative impact on cognitive function. Executive functions are identified as the only cognitive domain correlated with disease severity. Therefore, executive functions may play a role in the adaptation to physical restrictions in SMA, making them a promising target for future research. [ABSTRACT FROM AUTHOR]

Background: Ambulatory individuals with spinal muscular atrophy experience weakness and impairments of speed and endurance. This leads to decreased motor skill performance required for daily living including transitioning from floor to stand, climbing stairs, and traversing short and community distances. Motor function improvements have been reported in individuals receiving nusinersen, but changes in timed functional tests (TFTs) which assess shorter distance walking and transitions have not been well documented., Objective: To evaluate changes in TFT performance over the course of nusinersen treatment in ambulatory individuals with SMA and identify potential factors [age, SMN2 copy number, BMI, Hammersmith Functional Motor Scale Expanded (HFMSE score), Peroneal Compound Motor Action Potential (CMAP) amplitude] associated with TFT performance., Methods: Nineteen ambulatory participants receiving nusinersen were followed from 2017 through 2019 (range: 0-900 days, mean 624.7 days, median 780 days); thirteen of 19 (mean age = 11.5 years) completed TFTs. The 10-meter walk/run test, time-to-rise from supine, time-to-rise from sitting, 4-stair climb, 6-minute walk test (6MWT), Hammersmith Expanded and peroneal CMAP were assessed at each visit. Linear mixed-effects models were used to evaluate unadjusted and adjusted changes in these outcomes over time., Results: Apart from time to rise from sitting and from supine, all TFTs were found to improve over the course of treatment after adjusting for baseline age and BMI., Conclusions: Improvement in TFTs over time in patients with SMA treated with nusinersen suggests that shorter TFTs may have value to assess individuals with SMA who have or later gain ambulatory function during treatment.