Effects of non-invasive brain stimulation in multiple sclerosis: systematic review and meta-analysis

Objective: The objective of this meta-analysis was to summarize evidence on the therapeutic effects of non-invasive brain stimulation (NIBS) on core symptoms of multiple sclerosis (MS). Specifically, findings from studies deploying transcranial direct current stimulation (tDCS) and repetitive transcranial magnetic stimulation (rTMS) protocols were summarized in this review. Methods: We systematically searched articles published in four databases, until 31 May 2021, which compared the effects of active tDCS or rTMS with sham intervention in MS patients. We used a random-effects model for this meta-analysis. Meta-regression and subgroup meta-analysis were used to examine the effects of stimulation dose and different stimulation protocols, respectively. Results: Twenty-five randomized controlled trials (RCTs) were included in this review, consisting of 19 tDCS and 6 rTMS studies. tDCS led to a significant and immediate reduction of fatigue with a large effect size (Hedges’s g = −0.870, 95% confidence intervals (CI) = [−1.225 to −0.458], number needed to treat (NNT) = 2). Particularly, a subgroup analysis showed that applying tDCS over the left DLPFC and bilateral S1 led to fatigue reductions compared to sham stimulation. Furthermore, tDCS had favorable effects on fatigue in MS patients with low physical disability but not those with high physical disability, and additionally improved cognitive function. Finally, whereas rTMS was observed to reduce muscle spasticity, these NIBS protocols showed no further effect on MS-associated pain and mood symptoms. Conclusion: tDCS in MS alleviates fatigue and improves cognitive function whereas rTMS reduces muscle spasticity. More high-quality studies are needed to substantiate the therapeutic effects of different NIBS protocols in MS

Perceptions of Therapeutic Climbing for Patients with Multiple Sclerosis in Neurorehabilitation: A Qualitative Study

Background: Therapeutic climbing (TC) has emerged as a prospective rehabilitation approach for individuals with multiple sclerosis (MS). The existing literature primarily focuses on the physical and psychological benefits of TC across diverse populations but is limited concerning its application and efficacy for patients with MS. Objectives: This study aimed to delineate the experiences, subjective effects, and perceptions of both individuals with MS and therapists regarding TC, highlighting the potential benefits and challenges of this therapeutic approach. Methods: Using a qualitative design, semi-structured interviews were conducted with patients living with MS (N = 5) and therapists (N = 7) involved in TC sessions at a rehabilitation facility. The interviews were recorded, transcribed verbatim, and subjected to thematic qualitative text analysis. Results: Our analysis resulted in the identification of five main categories: (1) motivational factors, (2) training conditions, (3) training content, (4) observed effects, and (5) safety protocol. Our findings primarily centred around the motivational aspects of TC. Participants consistently reported experiencing feelings of accomplishment, success, enjoyment, and increased self-confidence. Furthermore, TC was often perceived as a comprehensive intervention, addressing endurance, strength, flexibility, neuromotor functions, cognition, and mental health while having a low-risk profile. However, due to the demanding nature of TC, careful fatigue management is crucial. This entails personalised intensity adjustments during sessions and coordinating TC with other physically demanding therapies when implementing TC within a rehabilitation environment. Conclusions: TC shows promise within MS rehabilitation and can be considered safe under certain framework conditions. This research sheds light on its potential benefits, facilitators, and barriers and provides insights for practical integration into rehabilitation programs

Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8

International audienceOriginally described as a risk factor for autism, CHD8 loss-of-function variants have recently been associated with a wider spectrum of neurodevelopmental abnormalities. We further expand the CHD8-related phenotype with the description of two unrelated patients who presented with childhood-onset progressive dystonia. Whole-exome sequencing conducted in two independent laboratories revealed a CHD8 nonsense variant in one patient and a frameshift variant in the second. The patients had strongly overlapping phenotypes characterized by generalized dystonia with mild-to-moderate neurodevelopmental comorbidity. Deep brain stimulation led to clinical improvement in both cases. We suggest that CHD8 should be added to the growing list of neurodevelopmental disorder-associated genes whose mutations can also result in dystoniadominant phenotypes