-
Pediatric Neurology Jun 2024Trihexyphenidyl and clonazepam are commonly used to treat dystonia in children with cerebral palsy (CP). However, there is a notable gap in the literature when it comes...
Efficacy of Oral Trihexyphenidyl Plus Clonazepam Versus Trihexyphenidyl for the Treatment of Dystonia in Children With Dystonic Cerebral Palsy: An Open-Label Randomized Controlled Trial.
BACKGROUND
Trihexyphenidyl and clonazepam are commonly used to treat dystonia in children with cerebral palsy (CP). However, there is a notable gap in the literature when it comes to studies that combine these first-line agents for the management of dystonia.
METHODS
This open-label, randomized controlled trial aimed to compare the efficacy of adding oral clonazepam to trihexyphenidyl (THP + CLZ) versus using trihexyphenidyl alone (THP) in reducing the severity of dystonia, as measured by the Barry-Albright Dystonia (BAD) score. The study was conducted over a 12-week therapy period in children with dystonic CP aged two to 14 years.
RESULTS
Each group enrolled 51 participants. The THP + CLZ group showed significantly better improvement in dystonia severity at 12 weeks compared with the THP group alone (-4.5 ± 2.9 vs -3.4 ± 1.7, P = 0.02). Furthermore, the THP + CLZ group exhibited superior improvement in the severity of choreoathetosis, upper limb function, pain perception by the child, and quality of life, with P values of 0.02, 0.009, 0.01, and 0.01, respectively. The number of participants experiencing treatment-emergent adverse events was comparable in both groups (P = 0.67). Importantly, none of the participants in any of the groups reported any serious adverse events.
CONCLUSION
A combination of oral THP + CLZ proves to be more efficacious than using THP alone for the treatment of dystonic CP in children aged two to 14 years in terms of reducing the severity of dystonia.
PubMed: 38945037
DOI: 10.1016/j.pediatrneurol.2024.06.004 -
Brain & Development Jun 2024This study aimed to investigate the clinical characteristics of pediatric-onset dystonia in Japan, addressing the diagnostic challenges arising from symptom variations...
OBJECTIVE
This study aimed to investigate the clinical characteristics of pediatric-onset dystonia in Japan, addressing the diagnostic challenges arising from symptom variations and etiological diversity.
METHODS
From 2020 to 2022, questionnaires were distributed to 1218 board certified child neurologists (BCCNs) by Japanese Society of Child Neurology. In the primary survey, participants were asked to report the number of patients with pediatric-onset dystonia under their care. Subsequently, the follow-up secondary survey sought additional information on the clinical characteristics of these patients.
RESULTS
The primary survey obtained 550 responses (response rate: 45 %) from BCCNs for their 736 patients with dystonia. The predominant etiologies included inherited cases (with DYT10
being the most prevalent, followed by DYT5 and ATP1A3-related neurologic disorders), acquired cases (with perinatal abnormalities being the most common), and idiopathic cases. The secondary survey provided clinical insights into 308 cases from 82 BCCNs. Infancy-onset dystonia presented as persistent and generalized with diverse symptoms, primarily linked to ATP1A3-related neurologic disorders and other genetic disorders resembling acquired dystonia. Conversely, childhood/adolescent-onset dystonia showed paroxysmal, fluctuating courses, predominantly affecting limbs. The most common etiologies were DYT5 and DYT10 , leading to therapeutic diagnoses. CONCLUSION
Pediatric-onset dystonia in Japan was treated by 28 % of BCCNs. The majority of cases were inherited, with high prevalence rates of DYT5
and DYT10 . Infancy-onset dystonia exhibits diverse etiologies and symptoms, emphasizing the utility of various examinations, including genetic testing. These findings significantly contribute to our understanding of pediatric-onset dystonia in Japan, although this study has the limitation of questionnaire survey. PubMed: 38942709
DOI: 10.1016/j.braindev.2024.06.002 -
Journal of Hand Therapy : Official... Jun 2024Musician's focal dystonia (mFD) is a rare, neurological, task-specific disorder that mainly affects the upper extremity (especially the hands) and generally appears as a...
BACKGROUND
Musician's focal dystonia (mFD) is a rare, neurological, task-specific disorder that mainly affects the upper extremity (especially the hands) and generally appears as a painless muscular incoordination that can mark the end of a musician's professional career. The present literature review intends to highlight the current understanding of musician's focal dystonia, its underlying neural mechanisms and the role of prevention and treatment in physiotherapy, psychotherapy and other fields as occupational therapy.
PURPOSE
The aim of the present literature review was to gain an overview of mFD in the medical, psychological and physical therapy literature and investigate what strategies for diagnosis and rehabilitation are available today.
STUDY DESIGN
The present article is a literature review, based on the search for full-text publications with the goal of comparing the main strategies for mFD rehabilitation and prevention presented in the literature.
METHODS
This literature review compared many relevant papers and studies available in literature today for mFD epidemiology, neural mechanisms, treatment and prevention, to discuss what we know today and highlight the aspects that can still be enhanced in the future.
RESULTS
According to our results, current literature gives a good understanding of mFD epidemiology, but further studies are needed to fully comprehend the neurological aspects and develop more rehabilitation strategies, especially in the psychological field. Our research also highlighted the need for a multidisciplinary approach that considers both physical and psychological aspects.
CONCLUSIONS
Physical rehabilitation strategies are helpful but, considering the amount of psychological aspects involved in mFD, a holistic approach should be considered and developed in the future. Finally, prevention must have a primary role in mFD treatment, raising awareness around it and, possibly, avoiding its development.
PubMed: 38942654
DOI: 10.1016/j.jht.2024.02.011 -
Frontiers in Human Neuroscience 2024Bradykinesia is an essential diagnostic criterion for Parkinson's disease (PD) but is frequently observed in many non-parkinsonian movement disorders, complicating...
INTRODUCTION
Bradykinesia is an essential diagnostic criterion for Parkinson's disease (PD) but is frequently observed in many non-parkinsonian movement disorders, complicating differential diagnosis, particularly in disorders featuring tremors. The presence of bradykinetic features in the subset of dystonic tremors (DT), either "pure" dystonic tremors or tremors associated with dystonia, remains currently unexplored. The aim of the current study was to evaluate upper limb bradykinesia in DT patients, comparing them with healthy controls (HC) and patients with PD by observing repetitive finger tapping (FT).
METHODS
The protocol consisted of two main parts. Initially, the kinematic recording of repetitive FT was performed using optical hand tracking system (Leap Motion Controller). The values of amplitude, amplitude decrement, frequency, frequency decrement, speed, acceleration and number of halts of FT were calculated. Subsequently, three independent movement disorder specialists from different movement disorders centres, blinded to the diagnosis, rated the presence of FT bradykinesia based on video recordings.
RESULTS
Thirty-six subjects participated in the study (12 DT, 12 HC and 12 early-stage PD). Kinematic analysis revealed no significant difference in the selected parameters of FT bradykinesia between DT patients and HC. In comparisons between DT and PD patients, PD patients exhibited bigger amplitude decrement and slower FT performance. In the blinded clinical assessment, bradykinesia was rated, on average, as being present in 41.6% of DT patients, 27.7% of HC, and 91.7% of PD patients. While overall inter-rater agreement was moderate, weak agreement was noted within the DT group.
DISCUSSION
Clinical ratings indicated signs of bradykinesia in almost half of DT patients. The objective kinematic analysis confirmed comparable parameters between DT and HC individuals, with more pronounced abnormalities in PD across various kinematic parameters. Interpretation of bradykinesia signs in tremor patients with DT should be approached cautiously and objective motion analysis might complement the diagnostic process and serve as a decision support system in the choice of clinical entities.
PubMed: 38938290
DOI: 10.3389/fnhum.2024.1395827 -
Neurobiology of Disease Jun 2024Deep brain stimulation (DBS) targeting the globus pallidus internus (GPi) and subthalamic nucleus (STN) is employed for the treatment of dystonia. Pallidal low-frequency...
BACKGROUND
Deep brain stimulation (DBS) targeting the globus pallidus internus (GPi) and subthalamic nucleus (STN) is employed for the treatment of dystonia. Pallidal low-frequency oscillations have been proposed as a pathophysiological marker for dystonia. However, the role of subthalamic oscillations and STN-GPi coupling in relation to dystonia remains unclear.
OBJECTIVE
We aimed to explore oscillatory activities within the STN-GPi circuit and their correlation with the severity of dystonia and efficacy achieved by DBS treatment.
METHODS
Local field potentials were recorded simultaneously from the STN and GPi from 13 dystonia patients. Spectral power analysis was conducted for selected frequency bands from both nuclei, while power correlation and the weighted phase lag index were used to evaluate power and phase couplings between these two nuclei, respectively. These features were incorporated into generalized linear models to assess their associations with dystonia severity and DBS efficacy.
RESULTS
The results revealed that pallidal theta power, subthalamic beta power and subthalamic-pallidal theta phase coupling and beta power coupling all correlated with clinical severity. The model incorporating all selected features predicts empirical clinical scores and DBS-induced improvements, whereas the model relying solely on pallidal theta power failed to demonstrate significant correlations.
CONCLUSIONS
Beyond pallidal theta power, subthalamic beta power, STN-GPi couplings in theta and beta bands, play a crucial role in understanding the pathophysiological mechanism of dystonia and developing optimal strategies for DBS.
PubMed: 38936434
DOI: 10.1016/j.nbd.2024.106581 -
Movement Disorders Clinical Practice Jun 2024
PubMed: 38934208
DOI: 10.1002/mdc3.14152 -
Stereotactic and Functional Neurosurgery Jun 2024In tremor syndromes, pharmacological therapy is the primary treatment, but deep brain stimulation (DBS) is used when it is insufficient. We explore the use of DBS,...
INTRODUCTION
In tremor syndromes, pharmacological therapy is the primary treatment, but deep brain stimulation (DBS) is used when it is insufficient. We explore the use of DBS, focusing on the globus pallidus internus for dystonia and the ventral intermediate nucleus (VIM) for tremor conditions. We introduce the posterior subthalamic area (PSA) as a potential target, suggesting its efficacy in tremor reduction, particularly in rare tremor syndromes. We aim to evaluate the efficacy and safety of double targeting the VIM and PSA in rare tremor conditions, highlighting the limited existing data on this.
METHODS
Between 2019 and 2023, 22 patients with rare tremor syndromes were treated with bilateral DBS of the VIM and PSA. This case series consisted of 7 isolated head tremor, 1 hepatic encephalopathic tremor due to Abernethy syndrome, 2 voice tremor, 4 dystonic tremor, and 8 Holmes tremor (2 multiple sclerosis, 2 cerebellar insult, and 4 posttraumatic) patients. Patients' preoperative and 12-month postoperative tremor scores were compared, and the optimum VIM and PSA stimulation areas were investigated.
RESULTS
There was a significant reduction in the mean TRS score from 3.70 (±0.57) to 0.45 (±0.68) after 12 months of surgery. Specific outcomes for different indications were observed: for head tremor, 6 of 7 patients showed a reduction in TRS scores to 0 points; the vocal tremor patients demonstrated improvement; this change was not statistically significant, which is likely to be due to the low number of patients in this subgroup; the dystonic tremor patients showed either complete tremor abolition or a reduction in TRS scores; the Holmes tremor patients showed an 80% reduction in TRS scores; and the hepatic encephalopathy tremor and Abernethy syndrome patients showed a 75% improvement in TRS scores. The stimulation parameters converged on the VIM and dorsal PSA. Complications included the need for electrode repositioning, infections requiring electrode removal and re-implantation, dysarthria, and stimulation-induced ataxia, which was resolved by adjusting the stimulation parameters.
DISCUSSION
The literature on DBS for rare tremors is limited. Double targeting of the VIM and PSA appears to produce promising improvements on the outcomes reported in the existing literature on VIM-only DBS. The proximity of the VIM and PSA allows for flexible electrode placement, contributing to the potential success of the dual-target approach. We also discuss the theoretical advantages of targeting the PSA based on the distribution of tremor circuits, emphasizing the need for further research and electrophysiological studies.
PubMed: 38934181
DOI: 10.1159/000539162 -
Dementia & Neuropsychologia 2024Corticobasal syndrome (CBS) is a rare cause of dementia and comprises varied combinations of subcortical signs (akinetic-rigid parkinsonism, dystonia, or myoclonus) with...
Corticobasal syndrome (CBS) is a rare cause of dementia and comprises varied combinations of subcortical signs (akinetic-rigid parkinsonism, dystonia, or myoclonus) with cortical signs (apraxia, alien hand or cortical sensory deficit), usually asymmetric. We aimed to report and compare the clinical and neuroimaging presentation of two patients diagnosed with CBS. While case 1 had severe non-fluent aphasia associated with mild apraxia and limb rigidity, case 2 had a more posterior cognitive impairment, with a different language pattern associated with marked visuospatial errors and hemineglect. FDG PET played a significant role in diagnosis, suggesting, in the first case, corticobasal degeneration and, in the second, Alzheimer's disease pattern. CBS has been widely studied with the advent of new methods such as brain FDG PET. Studies that deepen the phenotypic and biomarker heterogeneity of CBS will be of great importance for better classification, prognosis, and treatment of the condition.
PubMed: 38933079
DOI: 10.1590/1980-5764-DN-2023-0085 -
Journal of Movement Disorders Jun 2024
PubMed: 38932635
DOI: 10.14802/jmd.24022 -
Journal of Clinical Medicine Jun 2024: Dystonia is a neurological movement disorder characterized by involuntary muscle contractions that lead to abnormal movements and postures; it has a major impact on...
: Dystonia is a neurological movement disorder characterized by involuntary muscle contractions that lead to abnormal movements and postures; it has a major impact on patients' health-related quality of life (HRQoL). The aim of this study was to examine the HRQoL of Romanian patients with dystonia using the EQ-5D-5L instrument. : Responses to the EQ-5D-5L and the visual analogue scale (VAS) were collected alongside demographic and clinical characteristics. Health profiles were analyzed via the metrics of the EQ-5D-5L, severity levels, and age groups. Using Shannon's indexes, we calculated informativity both for patients' health profile as a whole and each individual dimension. Level sum scores (LSS) of the EQ-5D-5L were calculated and compared with scores from the EQ-5D-5L index and VAS. The HRQoL measures were analyzed through demographic and clinical characteristics. Descriptive statistics, Spearman correlation, and non-parametric tests (Mann-Whitney U or Kruskall-Wallis H) were used. The level of agreement between HRQoL measures was assessed using their intraclass correlation coefficient (ICC) and Bland-Altman plots. : A sample of 90 patients was used, around 75.6% of whom were female patients, and the mean age at the beginning of the survey was 58.7 years. The proportion of patients reporting "no problems" in all five dimensions was 10%. The highest frequency reported was "no problems" in self-care (66%), followed by "no problems" in mobility (41%). Shannon index and Shannon evenness index values showed higher informativity for pain/discomfort (2.07 and 0.89, respectively) and minimal informativity for self-care (1.59 and 0.68, respectively). The mean EQ-5D-5L index, LSS, and VAS scores were 0.74 (SD = 0.26), 0.70 (SD = 0.24), and 0.61 (SD = 0.21), respectively. The Spearman correlations between HRQoL measures were higher than 0.60. The agreement between the EQ-5D-5L index and LSS values was excellent (ICC = 0.970, 95% CI = 0.934-0.984); the agreement was poor-to-good between the EQ-5D-5L index and VAS scores (ICC = 683, 95% CI = 0.388-0.820), and moderate-to-good between the LSS and VAS scores (ICC = 0.789, 95% CI = 0.593-0.862). : Our results support the utilization of the EQ-5D-5L instrument in assessing the HRQoL of dystonia patients, and empirical results suggest that the EQ-5D-5L index and LSS measure may be used interchangeably. The findings from this study highlight that HRQoL is complex in patients with dystonia, particularly across different age groups.
PubMed: 38929932
DOI: 10.3390/jcm13123403