Expressive language and social communication abilities in children with spinal muscular atrophy type 1.

Aim: To investigate parent-reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease-modifying therapies.

Method: This was a cross-sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (Italy), testing the use of the MacArthur-Bates Communicative Development Inventories (MB-CDIs, 8 months+) to explore vocabulary production, and the Social Communication Questionnaire (SCQ, 4 years+) to investigate social communication.

Results: Fifteen participants completed the MB-CDIs (age range 2 years 2 months-6 years 9 months).

Rehabilitation research in spinal muscular atrophy: a call to action.

DesignThe landscape of spinal muscular atrophy drastically changed following the introduction of disease-modifying therapies, emphasizing the need for comprehensive rehabilitation strategies to maximize functional outcomes. Our aim is to identify the barriers faced by healthcare professionals in conducting rehabilitation research for spinal muscular atrophy and suggest potential solutions to increase evidence-based care.MethodsWe performed a narrative review of rehabilitation intervention studies with a quality assessment focusing on the research characteristics of each study and an international survey questioning healthcare professionals on their major areas of difficulty in conducting interventional studies.

Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy.

Unlabelled: The advent of newborn screening for spinal muscular atrophy (SMA) has highlighted the need for easy, quick, clinical tools to be used in infants with SMA identified in the neonatal period. We propose a new short module developed using items from the Hammersmith Neonatal Neurological Examination (HNNE) and from a module developed for floppy infants, both previously used in newborns with SMA. The new module was developed by identifying and selecting the items that were more often found to have abnormal findings in SMA newborns.

Correction: Serial casting for contractures in SMA: consensus derived guidelines for treatment.

[This corrects the article DOI: 10.3389/fneur.2025.

Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy.

The advent of disease modifying therapies in spinal muscular atrophy (SMA) has increased life expectancy but also raising new challenges. We aimed to explore the neurobehavioral profile in SMA type I subjects and in those identified by newborn screening (NBS). Behavioral assessment included screening questionnaires (strengths and difficulties questionnaire (SDQ), social communication questionnaire (SCQ), and sensory profile 2 (SP2)), neurobehavioral observation, CARS2 and DSM-5 criteria.

Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.

Background And Objectives: The Spinal Muscular Atrophy Functional Composite (SMA-FC) combines scores from the Hammersmith Functional Motor Scale Expanded (HFMSE), Upper Limb Module (ULM), and Six-Minute Walk Test (6MWT) into a single score and removes the floor and ceiling effects of the HFMSE. Our objective was to evaluate a revised version of the SMA-FC (SMA-FCR) by including the Revised ULM (RULM) in untreated and nusinersen-treated SMA.

Methods: We included participants with HFMSE, RULM, and 6MWT data at the same visit.

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen.

Background: The aim of this international retrospective study was to assess 4-year change using the Hammersmith Functional Motor Scale Expanded (HFMSE) in individuals with type II and III spinal muscular atrophy (SMA) treated with nusinersen and to establish predictors of HFMSE changes.

Methods: Individuals with type II or III SMA, and at least 4 years of nusinersen-only treatment were included. All were assessed using the HFMSE.

Identification and treatment of neurodevelopmental and mental disorders in boys and adults with Duchenne muscular dystrophy: a cohort study.

Background: Over the last few years, there has been increasing attention to the involvement of the central nervous system in Duchenne muscular dystrophy (DMD). The aim of this study was to assess the spectrum of neurodevelopmental and mental disorders and possible required intervention in our cohort of 264 boys and adults with DMD.

Methods: We retrospectively analysed clinical notes and psychological assessments, including routinely performed cognitive tests and clinical observations.

Italian validation of the SMA independence scale-upper limb module.

Spinal muscular atrophy (SMA) is a progressive disorder caused by SMN1 mutations. While therapies have changed its course, current motor scales often miss aspects. This study aimed to validate the Italian SMA Independence Scale (SMAIS-ULM) for reliability, applicability, and expansion across diverse SMA phenotypes.

Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study.

Objective: This study investigated myostatin levels in SMA patients receiving disease-modifying therapies (DMTs) to understand their relationship with treatment duration and functional status.

Methods: Our study includes both cross-sectional and longitudinal analyses of myostatin levels in treated SMA patients. The longitudinal cohort included 46 treatment-naive patients assessed at baseline and 12 months post-treatment.

Serial casting for contractures in SMA: consensus derived guidelines for treatment.

Background: Individuals with Spinal Muscular Atrophy (SMA) often present with muscle contractures. Serial casting has been used in a variety of other peripheral nerve, muscle, and central nervous system disorders to improve knee and ankle range of motion limitations and functional performance in both ambulatory and non-ambulatory individuals.

Objective: The goal of this study was to reach a consensus about the parameters, considerations and general guidelines that should inform practice when serial casting to improve flexibility in individuals with SMA.

Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data.

Aims: (i) provide a snapshot from a large cohort of Italian patients with SMA on risdiplam in the real-world setting; (ii) identify any differences in the cohorts before and after commercial drug approval considering the different eligibility access criteria (iii) describe preliminary data on adherence to treatment and reasons for shifting from nusinersen to risdiplam.

Methods: Charts from patients on risdiplam were retrospectively reviewed. Results were then compared between patients accessing the drug during an initial restricted compassionate use program (cohort 1) and those after commercial approval, with no restrictions (cohort 2).

Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy.

Background: Fatigue and fatigability are commonly reported in spinal muscular atrophy (SMA). Physical fatigability, proposed to be the most relevant to SMA pathophysiology, encompasses performance-based and perceived physical fatigability (PPF) assessments. While performance-based measures have highlighted physical fatigability as an SMA hallmark, PPF is not well characterized due to the lack of disease- and construct-specific scales.

Italian survey on evolving SMA care with disease-modifying therapies: a consensus workshop on nutrition, swallowing, respiratory and rehabilitation care.

The landscape of spinal muscular atrophy care is evolving with the emergence of disease-modifying therapies and newborn screening programs, leading to new phenotypes and changing patient needs. This necessitates a reevaluation of existing care recommendations to address new challenges and opportunities in spinal muscular atrophy management. To better evaluate how different areas of care have evolved since the advent of disease-modifying therapies, we focused on highlighting areas where existing practices remain valid, those in which changes are needed and supported by evidence, and those in which further research or experience is required.

Neuro and Psychomotor Therapist of Developmental Age Professional in Italy: An Anomaly or an Opportunity?

The aim of this work is to explore the distinct role of the Neuro and Psychomotor Therapist of Developmental Age (TNPEE) within the Italian health care system, examining challenges in recognizing and comparing this profession with international counterparts, particularly physiotherapists and occupational therapists. The historical evolution and educational framework, integrated into the Italian university model, provide a foundation for TNPEE's competencies in rehabilitation and habilitation. The TNPEE operates within the bio-psycho-social model, addressing the developmental age range with a holistic approach.

Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.

Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.

Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy.

High Expression of SMN circ4-2b-3 in SMA I Children Treated with Nusinersen is Associated with Improved Motor Outcomes.

Spinal muscular atrophy (SMA) is a neuromuscular disorder resulting in the loss of α-motor neurons. Nusinersen is an antisense oligonucleotide administered intrathecally to SMA patients that corrects the splicing defect of SMN2. Not all SMA patients respond equally to the therapy and work is in progress to identify biomarkers that may help stratify to SMA patients.

Assessment of early attention in an Italian cohort of preschooler preterm children using the Early Childhood Attention Battery.

Purpose: This cross-sectional monocentric study aims to utilize the Early Childhood Attention Battery to investigate early attention patterns in young preterm children and ascertain the extent to which their attentional abilities diverge from those of term peers.

Methods: Inclusion criteria encompassed gestational age < 34 weeks, with assessments conducted between 3 and 5 years 11 months. Exclusion criteria included major brain lesions, significant motor or behavioral disorders, and intellectual functioning with IQ < 70.

Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module.

The Revised upper limb module (RULM) has been increasingly used in clinical trials and in clinical settings. The aim of this study was to use the 'shift analysis' to assess the patterns of lost or gained abilities for each item on the RULM in an untreated cohort, stratified by SMA type, age, SMN2 copy number, and motor functional status. The analysis was performed on 222 12-month paired assessments from 129 individuals (115 assessment from type II and 107 from type III) who had at least two assessments at yearly intervals.

Effectiveness of Nusinersen in Adolescents and Adults with Spinal Muscular Atrophy: Systematic Review and Meta-analysis.

Introduction: Nusinersen clinical trials have limited data on adolescents and adults with 5q-associated spinal muscular atrophy (SMA). We conducted a systematic literature review (SLR) and meta-analysis to assess effectiveness of nusinersen in adolescents and adults with SMA in clinical practice.

Methods: Our search included papers published 12/23/2016 through 07/01/2022 with ≥ 5 individuals ≥ 13 years of age and with ≥ 6 months' data on ≥ 1 selected motor function outcomes [Hammersmith Functional Motor Scale-Expanded (HFMSE), Revised Upper Limb Module (RULM), and Six-Minute Walk Test (6MWT)].

Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA.

Several studies have shown the efficacy of new disease-modifying therapies in slowing down type II SMA progression using the Hammersmith Functional Motor Scale Expanded (HFMSE). This research aims to enhance understanding of activity changes across age groups post-nusinersen treatment using shift analysis, compared with untreated individuals. Retrospective data from the, international SMA consortium (iSMAc) dataset were analyzed, assessing individual item changes over 12 months.