Neuromuscular Disorders最新文献

{"title":"232VP Patient knowledge of the risks of glucocorticoid management in a specialist adult muscle clinic","authors":"L. Kent,&nbsp;F. Begeti,&nbsp;H. Turner,&nbsp;S. Brady","doi":"10.1016/j.nmd.2024.07.083","DOIUrl":"10.1016/j.nmd.2024.07.083","url":null,"abstract":"<div><div>The prescribing of long-term glucocorticoids has recently been highlighted as a safety concern within the NHS due to the risk of adrenal suppression and subsequent adrenal crisis during intercurrent illness. In a recent four-year period, the National Reporting and Learning System (NRLS) identified 2 deaths, 6 incidents of severe harm, and 70 other incidents of harm related to this medication. We conducted this study to ascertain the level of risk in our clinic and implement strategies to improve patient safety. To evaluate and improve glucocorticoid management in patients under the Adult Oxford Muscle Service, we conducted structured telephone interviews with patients on this treatment [Duchenne muscular dystrophy (DMD) and idiopathic inflammatory myopathy (IIM)] and their families. Twenty patients were included, 11 with a diagnosis of DMD (all male) and 9 with a diagnosis of IIM (5 male). The age range was 18 - 81 years and current glucocorticoid dose was 7 - 50 mg prednisolone daily. Our results revealed that patients frequently were not confident about what to do if they were unwell or missed a dose of glucocorticoid. The proportion that did not know what to do when unwell was 70%, when vomiting was 60%, and with symptomatic SARS-CoV-2 (Covid-19) infection was 75%. Ten patients (50%) did not carry a steroid card. Knowledge across this group varied considerably. Our study highlighted the fact that this cohort of patients (and their families) are often unaware how to manage their medication safely, putting them at risk of complications of adrenal suppression. These findings helped us to implement strategies to reduce this risk including frequently reiterated written and oral guidance on glucocorticoid therapy and its potential complications. We anticipate that this significantly reduces the risk of patient harm. Given the almost ubiquitous use of glucocorticoids in many areas of medicine, we feel it is useful for others to consider similar studies in their practice.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.74"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"06O NLRP3 inflammasome activation and altered mitophagy are key pathways in inclusion body myositis","authors":"E. Naddaf ,&nbsp;T. Nguyen ,&nbsp;J. Watzlawik ,&nbsp;H. Gao ,&nbsp;X. Hou ,&nbsp;F. Fiesel ,&nbsp;J. Mandrekar ,&nbsp;E. Kokesh ,&nbsp;W. Harmsen ,&nbsp;I. Lanza ,&nbsp;W. Springer ,&nbsp;E. Trushina","doi":"10.1016/j.nmd.2024.07.019","DOIUrl":"10.1016/j.nmd.2024.07.019","url":null,"abstract":"<div><div>Inclusion body myositis (IBM) is the most prevalent muscle disease in adults for which no current treatment exists. The pathogenesis of IBM remains poorly defined. Inflammation and mitochondrial dysfunction are the most common histopathological findings. In this study, we aimed to explore the interplay between inflammation and mitochondrial dysfunction in IBM patients. We included 38 IBM patients and 22 age- and sex-matched controls without myopathy. Bulk RNA sequencing, Meso Scale Discovery ELISA, western blotting, histochemistry and immunohistochemistry were performed on frozen muscle samples from the study participants. We demonstrated activation of the NLRP3 inflammasome in IBM muscle samples, with the NLRP3 inflammasome pathway being the most upregulated pathway. On muscle histopathology, there was increased NRLP3 immunoreactivity in both inflammatory cells and muscle fibers. Mitophagy is critical for removing damaged mitochondria and preventing the formation of a vicious cycle of mitochondrial dysfunction—NLRP3 activation. In the IBM muscle samples, we showed altered mitophagy with elevated levels of p-S65-Ubiquitin, a mitophagy marker. Furthermore, p-S65-Ubiquitin aggregates accumulated in muscle fibers that were mostly type 2 and devoid of cytochrome-c-oxidase reactivity. Type 2 muscle fibers are known to be more prone to mitochondrial dysfunction. NLRP3 RNA levels correlated with p-S65-Ubiquitin levels. NLRP3 inflammasome is activated in IBM, along with altered mitophagy, potentially forming a self-sustaining vicious cycle. These findings could have potential therapeutic significance.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.10"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"216P A questionnaire-based investigation into levels physical disability and of physical activity in adults with neuromuscular disease in a UK neuromuscular centre","authors":"T. Willis ,&nbsp;K. Strachan ,&nbsp;N. Emery","doi":"10.1016/j.nmd.2024.07.067","DOIUrl":"10.1016/j.nmd.2024.07.067","url":null,"abstract":"<div><div>Neuromuscular diseases (NMD) are either genetic or acquired, and to date, most have no specific pharmaceutical intervention effective in arresting or improving disease progression. They are, therefore, all progressive in nature with a gradual or rapid loss of functional abilities; loss of ambulation, upper or lower limb weakness or both, loss of independence and associated co-morbidities; respiratory, cardiac, diabetes, and obesity. Neuromuscular diseases are complex and require careful management. One intervention that is available to most NMD patients is physical activity (PA). Physical activity has been shown to have benefits and be safe for those with NMD. Therefore, NMD patients should be encouraged to engage in physical activity. To assess adult patients with NMD and participation in physical activity, the 'Rapid Assessment of Physical Activity' (RAPA) was used. This is a patient questionnaire that uses a 'yes/no' format with 7 fields, with 1 being no physical activity to 7 being vigorous activity for 20 minutes, 3 or more times, per week. Stretching and resistance training are also assessed. To determine the level of physical impairment the 'Summary of Functional Tests' (SOFT) was used. This simple assessment tool provides a quantitative description of a person's physical function. We present the results (n=66) of a prospective review of adult patients seen in a NM clinic between May and December 2023 and delivered and assessed by 2 NM specialist physiotherapists. Taken together the RAPA plus the SOFT should provide an overview of the level of physical activity engagement and physical impairment. Findings can used to determine if NMD patients engage in physical activity and if this is at the recommended amount, as per the American College of Sports Medicine guidelines.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.58"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"224P Psychosocial discussions in neuromuscular clinics from a professional lens: evidence from a service evaluation regarding barriers to discussions","authors":"C. Geagan,&nbsp;A. Sandhu,&nbsp;J. Mason,&nbsp;M. McCallum,&nbsp;R. Muni-Lofra,&nbsp;D. Moat,&nbsp;K. Wong,&nbsp;E. Robinson,&nbsp;E. Grover,&nbsp;J. Michel-Sodhi,&nbsp;C. Bolaño Diaz,&nbsp;M. Schiava,&nbsp;D. Salman,&nbsp;M. James,&nbsp;G. Tasca,&nbsp;J. Diaz Manera,&nbsp;M. Guglieri,&nbsp;V. Straub,&nbsp;M. Elseed,&nbsp;C. Marini Bettolo","doi":"10.1016/j.nmd.2024.07.075","DOIUrl":"10.1016/j.nmd.2024.07.075","url":null,"abstract":"<div><div>Neuromuscular disorders have a high symptom burden and are frequently associated with many adverse psychosocial outcomes, particularly reduced quality of life and well-being. For some conditions, such as Duchenne muscular dystrophy, quality of life can be further affected by additional neurodevelopmental and cognitive needs. For individuals with neuromuscular condition, effective clinical care involves addressing the physical aspects of a condition, and the emotional and social dimensions that accompany it. Professionals working in neuromuscular teams frequently provide emotional support for individuals and their families with Neuromuscular conditions. However, it can be challenging to have these discussions in routine clinics. A retrospective audit of paperwork from routine muscle reviews throughout 2022 and 2023 was conducted to identify levels of psychosocial need in routine muscle reviews at a specialist Neuromuscular centre in Northern England, The John Walton Muscular Dystrophy Research Centre. Online surveys were distributed to clinicians within the team to discuss current challenges and facilitators of mental health discussions in clinic. This study aimed to (1) examine the frequency of mental health or cognitive discussions in clinic (2) understand the nature of psychosocial concerns raised in clinic, (3) identify potential barriers to these discussions as identified by multidisciplinary professionals within the team. Both paediatric and adult clinics were included, and no exclusion criteria regarding neuromuscular condition applied. Audit and evaluation are currently ongoing. The current audit and service evaluation will contribute to service development looking at improving psychosocial support in Neuromuscular care within the UK. A re-audit and evaluation next year will assess whether recommendations better facilitate these conversations within neuromuscular clinics.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.66"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"226P Phase 3, randomized, global study assessing efficacy and safety of del-desiran for the treatment of myotonic dystrophy type 1: HARBOR trial design","authors":"M. Fowler ,&nbsp;N. Johnson ,&nbsp;C. Thornton ,&nbsp;J. Day ,&nbsp;V. Sansone ,&nbsp;B. McEvoy ,&nbsp;L. Tai ,&nbsp;B. Knisely ,&nbsp;T. Brandt ,&nbsp;K. Gallagher ,&nbsp;S. Hughes ,&nbsp;E. Ackermann","doi":"10.1016/j.nmd.2024.07.077","DOIUrl":"10.1016/j.nmd.2024.07.077","url":null,"abstract":"<div><div>Myotonic dystrophy type 1 (DM1) is a rare, dominantly inherited, progressive neuromuscular disease caused by a toxic gain-of-function mutation in the DM1 protein kinase (DMPK) gene. DM1 is primarily characterized by myotonia along with progressive muscular weakness and wasting, leading to deficits in hand function, immobility, respiratory insufficiency, dysarthria, and dysphagia. Hand function impairment is caused by both myotonia and hand weakness leading to negative impact on quality of life. Delpacibart etedesiran (del-desiran, formerly AOC 1001) is an antibody-oligonucleotide conjugate (AOC™) comprised of a DMPK siRNA conjugated to a humanized antibody targeting transferrin receptor 1 (TfR1) for delivery of siRNA to muscle cells to mediate DMPK mRNA degradation addressing the underlying cause of DM1. Long-term safety and tolerability data from the Phase 1/2 MARINA® and MARINA-OLE™ clinical trials demonstrated that del-desiran is well tolerated in patients with DM1 and demonstrated efficacy compared to placebo and natural history for multiple functional endpoints. This phase 3, randomized, double-blind, placebo-controlled, 54-week study will be conducted across ∼40 global sites. This study will enroll participants aged 16+ years with a clinical and genetic diagnosis of DM1 (DMPK CTG repeat ≥100). Participants will be randomized 1:1 to receive either 4 mg/kg del-desiran or placebo administered intravenously every 8 weeks. The first dose of del-desiran will be 2 mg/kg. Primary analysis will take place at Week 30, with the duration of the placebo-controlled study being 54 weeks. Eligible participants will have the option to enroll in an open-label extension trial. The primary objective is to evaluate the efficacy of del-desiran on hand opening time to observe changes in myotonia and hand function. Key secondary objectives are to evaluate the efficacy of del-desiran on muscle strength and activities of daily living.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.68"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"122P A retrospective review of changes in upper limb function following spinal surgery in spinal muscular atrophy","authors":"O. Martineau ,&nbsp;E. Milev ,&nbsp;M. Main ,&nbsp;M. Scoto ,&nbsp;F. Muntoni ,&nbsp;G. Baranello","doi":"10.1016/j.nmd.2024.07.029","DOIUrl":"10.1016/j.nmd.2024.07.029","url":null,"abstract":"<div><div>In recent years, disease-modifying treatments (DMT) for Spinal Muscular Atrophy (SMA) have become readily available on the National Health Service in the UK. Although phenotypes are changing, progressive scoliosis remains common and can affect individuals' quality of life causing a negative impact on mobility, increased pain and worsened respiratory function. Corrective spinal surgery aims to reduce the curvature of the spine with the purpose to improve sitting posture and lung function. Limited data is available on the effects of scoliosis surgery on upper limb function in SMA patients. The revised upper limb module (RULM) is used to monitor changes in the arm function in the SMA cohort assessing both proximal and distal activities. The aim of this study is to review changes in upper limb function of SMA children following spinal surgery identifying possible contributing factors. A single-centre retrospective review has been completed of the current SMA cohort at Great Ormond Street Hospital (GOSH) that underwent corrective spinal surgery (posterior spinal fusion or growth rod insertion). Forty-two patients were identified; 20 were excluded due to insufficient data. Of the remaining 22 patients, 14 were female and 8 male. Nine were classified as type 3, 12 as type 2 and 1 as type 1;12/22 had started on DMT prior to surgery. Scores from 2 RULM assessments taken prior to surgery at least 6 months apart were compared with RULM results post-surgery at two 6-month intervals. Other factors were recorded including age, Cobb angle and time on DMT prior to surgery. Patients receiving DMT post-surgery were used as a control group. At the initial follow-up, 64% showed a decline in RULM score with an average change in score of-2.18. At the second follow-up, 78% had improved or maintained their score with an average score change of 0.09. Comparing the treated and untreated group, there was no significant difference in scores at the initial follow-up, while at the second follow up a significant difference was observed (p=0.018) with an average change of +1 in the DMT group compared to -1 in the untreated group. Our study shows that children with SMA treated with a DMT prior to surgery declined initially however 87% regained or maintained some upper limb function at their second follow-up. We aim to further analyse the data and present the full scope of this study including a larger group across the UK.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.20"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"WMS 2024 Summary Programme","authors":"","doi":"10.1016/S0960-8966(24)00953-2","DOIUrl":"10.1016/S0960-8966(24)00953-2","url":null,"abstract":"","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104457"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"142P A preliminary machine learning retrospective observational study to predict treatment response to nusinersen in non-sitter spinal muscular atrophy","authors":"G. Stimpson ,&nbsp;E. O'Reilly ,&nbsp;G. Coratti ,&nbsp;D. Ridout ,&nbsp;T. Chakraborti ,&nbsp;R. Mitra ,&nbsp;E. Mercuri ,&nbsp;M. Scoto ,&nbsp;F. Muntoni ,&nbsp;G. Baranello","doi":"10.1016/j.nmd.2024.07.049","DOIUrl":"10.1016/j.nmd.2024.07.049","url":null,"abstract":"<div><div>Disease-modifying treatments, such as nusinersen, have significantly improved the disease trajectory of Spinal Muscular Atrophy (SMA) patients. Treatment response is heterogeneous, and predicting response is crucial for clinicians to give realistic guidance to patients and carers when counselling about treatment options. We collected data on 124 patients from the SMA Reach UK and Italian Network studies. Participants were included if they were treated under 4 years and were non-sitters at nusinersen initiation, were randomly allocated to training (80%) and testing cohorts (20%). Tree and regression-based machine learning for survival outcomes were compared, and oblique random forests were selected, with a testing C-Index of 0.74. The features were selected from items of the CHOP and HINE-2, respiratory symptoms and bulbar interventions using mutual information. In total, 62 (50%) have achieved sitting, at a median age of 2.4 years. The predicted median time-to-sitting in those requiring NG or G-Tubes at treatment was 4-months later on average than those without, and this was the most influential factor. The ability to kick at treatment, (≥1 on the HINE-2 item) was also influential in predicting the likelihood of sitting, as was antigravity shoulder movement in supine and ability to reach in side-lying (4 on items 1 and 8), and neck muscle activation in pull to sit (≥2 on item 14) and rolling fully prone from supine when elicited from arms (≥3 on item 7) on the CHOP at treatment. Most notably, those who could roll fully prone from supine had a median predicted time-to-sit 5.8 months earlier than an identical patient who could not. Nusinersen starting and symptom onset age were less influential, whilst SMN2 copy numbers did not improve the model. This work provides a tool to predict treatment response in nusinersen-treated patients and has the potential to be extended to other treatment options, moving clinicians towards personalised treatment plans for each patient.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.40"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"113P Quality of life and participation of adults with spinal muscular atrophy: QOLSMA","authors":"S. Ribault ,&nbsp;P. Rippert ,&nbsp;T. Lopinet ,&nbsp;L. Le Goff ,&nbsp;A. Barrière ,&nbsp;M. Morard ,&nbsp;J. Theuriet ,&nbsp;A. Pegat ,&nbsp;F. Boyer ,&nbsp;C. Vuillerot","doi":"10.1016/j.nmd.2024.07.020","DOIUrl":"10.1016/j.nmd.2024.07.020","url":null,"abstract":"<div><div>Spinal muscular atrophy is a motoneuron disease caused by a mutation of the SMN1 gene, at the origin of a limb and axial motor deficiency. The specificities of the quality of life of adult patients with SMA remain poorly described, as well as its link with participation as defined by the WHO in the International Classification of Function. This study aims to assess SMA adult patient's quality of life compared to other NMD patients, and to identify determinants of quality of life in SMA patients. Material and Adult individuals with a diagnosis of SMA gave an informed consent and filled an anonymous online questionnaire containing questions about medical and demographic data, the SMA independence scale (SMAIS), the QOLgNMD scale, the Rosenberg self-esteem scale, and questions regarding patients’ participation. 114 individuals were included. QOLgNMD self-perception domain and activities and participation domain were lower in the SMA population compared to the other NMD population (p&lt;0.0001). There was no correlation between quality of life and the Brooke, Vignos or the SMAIS scales. The 3 domains of the QOLgNMD were significantly correlated with the level of stress, the Rosenberg scale and the satisfaction with life scale. SMA patients showed a lower quality of life regarding self-perception and activities and participation compared to other NMDs. However, motor function and independence do not appear to be determinants of quality of life. Assessing the determinants of quality of life is crucial to propose relevant outcomes for the evaluation of therapeutic interventions.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.11"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"116P Exploring neurobehavioral disorders in type 1 and presymptomatic patients with spinal muscular atrophy","authors":"B. Buchignani ,&nbsp;G. Coratti ,&nbsp;C. Cutrì ,&nbsp;C. Palermo ,&nbsp;D. Leone ,&nbsp;L. Antonaci ,&nbsp;M. Pera ,&nbsp;M. Pane ,&nbsp;E. Mercuri","doi":"10.1016/j.nmd.2024.07.023","DOIUrl":"10.1016/j.nmd.2024.07.023","url":null,"abstract":"<div><div>The advent of disease modifying therapies in Spinal Muscular Atrophy (SMA) has changed the natural history of the disease, increasing life expectancy and quality of life but, at the same time, raising new clinical challenges. The aim of this study is to explore the neurobehavioral profile in treated individuals with SMA type I and subjects identified by newborn screening (NBS). Twenty-eight individuals aged 2-10 years underwent a comprehensive behavioral assessment using three screening questionnaires (Strengths and Difficulties Questionnaire (SDQ), Social Communication Questionnaire (SCQ), and Sensory Profile (SP)), which provide information regarding the risk of behavioral disorders and autism. A cognitive evaluation, and a clinical observation were performed by two independent observers. Twenty-two individuals with SMA type I and 6 patients identified with NBS were included. None had abnormal clinical scores in the SCQ questionnaire, 4 had borderline scores, but in two of the 4 the scores were normal when the motor items were removed. SDQ showed some abnormal results in 10/28 subjects. The clinical observation confirmed the result of the screening questionnaires in 17/28 subjects and highlighted behavioral issues in 4/28 not detected by the questionnaires. Our findings confirm that neurobehavioral disorders may occur in subjects with SMA and highlight the challenges in choosing the appropriate assessment tools. Questionnaires such as SCQ do not appear to be adequate as they often failed to identify signs detected by other tools. SDQ appeared to be the most appropriate tool in our cohort. In our experience, a structured clinical observation was also helpful to identify behavioral problems, suggesting that, in the absence of disease specific tools, the use of different instruments may help to better identify the type and the frequency of behavioral problems.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.14"},"PeriodicalIF":2.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142423571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}