Different trajectories in upper limb and gross motor function in spinal muscular atrophy

Although nusinersen has been demonstrated to improve motor function in patients with spinal muscular atrophy (SMA), no studies have investigated its effect on fine manual dexterity. The present study aimed to investigate the ability of nusinersen to improve fine manual dexterity in patients with SMA type 2. A total of five patients with SMA type 2 were included. The Hammersmith Functional Motor Scale (expanded version) (HFMSE) and Purdue Pegboard (PP) tests were used to evaluate gross motor function and fine manual dexterity, respectively, until 18 months after nusinersen administration. HFMSE scores improved by 3–10 points (+13–53%) in all patients following nusinersen administration. PP scores also improved in all patients, from 4 to 9 points (+80–225%) in the preferred hand and from 3 to 7 points (+60–500%) in the non-preferred hand. These results suggest that nusinersen treatment improved both gross motor function and fine manual dexterity in children with SMA type 2. Addition of the PP test may aid in evaluating the fine manual dexterity essential for activities of daily living in these patients.

Download Full-text

Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy

Child Neurology Open ◽

10.1177/2329048x18780477 ◽

2018 ◽

Vol 5 ◽

pp. 2329048X1878047 ◽

Cited By ~ 2

Author(s):

Christina Stark ◽

Ibrahim Duran ◽

Sebahattin Cirak ◽

Stefanie Hamacher ◽

Heike-Katharina Hoyer-Kuhn ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Function ◽

Muscular Atrophy ◽

Functional Mobility ◽

Whole Body ◽

Gross Motor ◽

Gross Motor Function ◽

Home Based ◽

Gross Motor Function Measure ◽

Function Measure

The aim of this study was to determine the effect of a new method of vibration-assisted neuromuscular rehabilitation in patients with spinal muscular atrophy types II and III. In this retrospective observational study, 38 children (mean age: 4.64 ± 1.95 years) were analyzed. The physiotherapy program, Auf die Beine, combines 6 months of home-based side-alternating whole-body vibration with interval blocks of intensive, goal-directed rehabilitation: 13 days at the start and 6 days after 3 months. Assessments were applied at the beginning (M0), after 6 months of home-based training (M6), and after 6 months of follow-up (M12). Motor abilities were assessed by the Gross Motor Function Measure 66 and Hammersmith Functional Mobility Scale. The Gross Motor Function Measure showed an increase of 1.69 (3.73) points ( P = .124) and the Hammersmith Functional Mobility Scale a significant increase of 2.73 ± 1.79 points ( P = .007) after 12 months; however, whether this leads to a long-term clinical benefit requires further investigation.

Download Full-text

Relation among the Gross Motor Function, Manual Performance and Upper Limb Functional Measures in Children with Spastic Cerebral Palsy

Yonsei Medical Journal ◽

10.3349/ymj.2013.54.2.516 ◽

2013 ◽

Vol 54 (2) ◽

pp. 516 ◽

Cited By ~ 4

Author(s):

Eun Sook Park ◽

Dong Wook Rha ◽

Jin Hee Park ◽

Doug Ho Park ◽

Eun Geol Sim

Keyword(s):

Cerebral Palsy ◽

Motor Function ◽

Upper Limb ◽

Spastic Cerebral Palsy ◽

Gross Motor ◽

Gross Motor Function ◽

Functional Measures ◽

Manual Performance

Download Full-text

Prevalence of Speech Problems and the Use of Augmentative and Alternative Communication in Children With Cerebral Palsy: A Registry-Based Study in Norway

Perspectives on Augmentative and Alternative Communication ◽

10.1044/aac19.1.12 ◽

2010 ◽

Vol 19 (1) ◽

pp. 12-20 ◽

Cited By ~ 29

Author(s):

Guro Andersen ◽

Tone R. Mjøen ◽

Torstein Vik

Keyword(s):

Cerebral Palsy ◽

Motor Function ◽

Gestational Age ◽

Augmentative And Alternative Communication ◽

Alternative Communication ◽

Gross Motor ◽

Gross Motor Function ◽

Children With Cerebral Palsy ◽

Communicative Abilities ◽

Normal Speech

Abstract This study describes the prevalence of speech problems and the use of augmentative and alternative communication (AAC) in children with cerebral palsy (CP) in Norway. Information on the communicative abilities of 564 children with CP born 1996–2003, recorded in the Norwegian CP Registry, was collected. A total of 270 children (48%) had normal speech, 90 (16%) had slightly indistinct speech, 52 (9%) had indistinct speech, 35 (6%) had very indistinct speech, 110 children (19%) had no speech, and 7 (1%) were unknown. Speech problems were most common in children with dyskinetic CP (92 %), in children with the most severe gross motor function impairments and among children being totally dependent on assistance in feeding or tube-fed children. A higher proportion of children born at term had speech problems when compared with children born before 32 weeks of gestational age 32 (p > 0.001). Among the 197 children with speech problems only, 106 (54%) used AAC in some form. Approximately 20% of children had no verbal speech, whereas ~15% had significant speech problems. Among children with either significant speech problems or no speech, only 54% used AAC in any form.

Download Full-text

Faculty Opinions recommendation of CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725275418.793502456 ◽

2014 ◽

Author(s):

Chris Henderson

Keyword(s):

Gene Therapy ◽

Mouse Model ◽

Spinal Muscular Atrophy ◽

Motor Function ◽

Muscular Atrophy ◽

Targeted Gene Therapy

Download Full-text

Evaluation of Metabolic Effects of Nusinersen in Patients with Spinal Muscular Atrophy

Journal of Pediatric Neurology ◽

10.1055/s-0041-1731395 ◽

2021 ◽

Author(s):

Lena-Luise Becker ◽

Claudia Weiss ◽

René Günther ◽

Andreas Hermann ◽

Manuela Theophil ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Function ◽

Muscular Atrophy ◽

Metabolic Effects ◽

Height Velocity ◽

Multicentric Study ◽

Specific Effects ◽

Altered Glucose ◽

Clinically Significant ◽

Few Data

AbstractNusinersen is the first disease-modifying therapy for spinal muscular atrophy (SMA), but there are few data on potential long-term endocrinological and metabolic systemic effects of this novel treatment as well as metabolic alterations in SMA itself. In this retrospective and multicentric study, we analyzed anthropometric, endocrinological, and motor function data of 81 pediatric and adult patients with SMA1 to 3 undergoing treatment with nusinersen. In 39 patients (51%), we observed a slight increase in body mass index (BMI) centiles under treatment with nusinersen, especially in patients with SMA2 and in pediatric patients between 3.1 and 12 years. A correlation to the SMN2 copy number or motor function was not found. Additionally, length centiles decreased significantly under treatment. The results of longitudinal endocrinological assessments were interpreted as not clinically significant in most patients; in three patients, the signs of an altered glucose metabolism were present. Our study indicates a putative effect of treatment with nusinersen on BMI, which might be due to a conjoint effect of weight gain and reduction of height velocity, without evidence of correlation to increased muscle function. Further studies need to address specific effects of targeted therapies such as nusinersen or onasemnogene abeparvovec on body composition including fat and muscle mass.

Download Full-text