Prats-Vinas JM, Rev Neurol. 2018 Jun 5;66(s02):S27-S31. PMID: 29876909
This article reviews the advances made in the field of ataxias over the past four years. It concludes that there is no single spectacular finding like those that have taken place in the last 25 years and they can all be attributed to the remarkable evolution of genetics and neuroimaging. Nevertheless, algorithms have been perfected that allow a more rational use of the previous techniques to reach a correct diagnosis and possible treatment. With regard to the treatments proposed to alleviate the symptoms of ataxias, there is no unquestionable evidence leading us to think that the symptoms can be reverted with the means currently available, except for a few treatable ataxias, which were already known before that time.
Sunday, June 17, 2018
Social and familial difficulties as a consequence of the neurological illness of a child: the perspective of health and social work
Gonzalez-Pena A., Rev Neurol. 2018 Jun 5;66(s02):S53-S56.
When we speak of children with special needs, who require the aid of a number of professionals and who have a severe disability, it is necessary to have available a comprehensive group of different professionals (paediatrician, nurse, social worker, psychologist, etc.) who work together as a team. The specialist physician or doctor responsible for the sick child alone cannot take responsibility for all the psychosocial consequences that result from the neurological disease, which is a chronic illness that, generally speaking, means the families arrange their lives to revolve around the sick child. The set of guidelines or social work field tools for doctors such as neuropaediatricians outlined in this article could help to facilitate an increase in the quality of the care delivered, and of the lives of the children and of those who are looking after them. The children and their relatives have a social complexity as a consequence of their disease that can be detected by the doctor, who then refers them to the social worker in order to be able to deliver a more global response to care for the child's health. It is important to have the concepts clear in our minds when speaking about children with severe disability and high dependence, and also about the institutional abuse in the form of medical bureaucracy with numerous visits and a variety of professionals all requesting clinical tests.
When we speak of children with special needs, who require the aid of a number of professionals and who have a severe disability, it is necessary to have available a comprehensive group of different professionals (paediatrician, nurse, social worker, psychologist, etc.) who work together as a team. The specialist physician or doctor responsible for the sick child alone cannot take responsibility for all the psychosocial consequences that result from the neurological disease, which is a chronic illness that, generally speaking, means the families arrange their lives to revolve around the sick child. The set of guidelines or social work field tools for doctors such as neuropaediatricians outlined in this article could help to facilitate an increase in the quality of the care delivered, and of the lives of the children and of those who are looking after them. The children and their relatives have a social complexity as a consequence of their disease that can be detected by the doctor, who then refers them to the social worker in order to be able to deliver a more global response to care for the child's health. It is important to have the concepts clear in our minds when speaking about children with severe disability and high dependence, and also about the institutional abuse in the form of medical bureaucracy with numerous visits and a variety of professionals all requesting clinical tests.
Soft robotic devices for hand rehabilitation and assistance: a narrative review
Chia-Ye Chu and Rita M. Patterson, Journal of NeuroEngineering and Rehabilitation 2018 15:9 doi:10.1186/s12984-018-0350-6
Since the emergence of soft robotic devices for hand rehabilitation roughly 10 years ago, the field has progressed rapidly. Significant progress has been made in establishing proof-of-concept of designs of preclinical research prototypes, with clinical trials being the next logical goal. But for many devices, more work needs to be done to perfect actuator design and feedback to maximize patient safety and rehabilitation outcomes.
We hope that this review of the current approaches in designing soft robotic devices for hand rehabilitation will serve as a useful resource for future developers and facilitate the evolution of the field.
Since the emergence of soft robotic devices for hand rehabilitation roughly 10 years ago, the field has progressed rapidly. Significant progress has been made in establishing proof-of-concept of designs of preclinical research prototypes, with clinical trials being the next logical goal. But for many devices, more work needs to be done to perfect actuator design and feedback to maximize patient safety and rehabilitation outcomes.
We hope that this review of the current approaches in designing soft robotic devices for hand rehabilitation will serve as a useful resource for future developers and facilitate the evolution of the field.
Transcranial magnetic stimulation in hereditary ataxias: diagnostic utility, pathophysiological insight and treatment
Roberto Rodríguez-Labrada, Luis Velázquez-Pérez, Ulf Ziemann, Clinical Neurophysiology, Available online 15 June 2018, ISSN 1388-2457, doi:10.1016/j.clinph.2018.06.003.
Transcranial magnetic stimulation (TMS) is a valuable technique to assess and modulate human brain function in normal and pathological conditions. This critical review surveys the contributions of TMS to the diagnosis, insight into pathophysiology and treatment of genetically confirmed hereditary ataxias, a heterogeneous group of neurodegenerative disorders that can affect motor cortex and the corticospinal tract. Most studies were conducted on small sample sizes and focused on diagnostic approaches. The available data demonstrate early involvement of the corticospinal tract and motor cortex circuitry, and support the possible efficacy of cerebellar repetitive TMS (rTMS) as therapeutic approach. Further TMS-based studies are warranted, to establish biomarkers for early diagnosis and disease monitoring, explore the involvement of the cerebello-dentato-thalamo-cortical projection, study the effects of rTMS-induced plasticity, and utilize rTMS for treatment.
Transcranial magnetic stimulation (TMS) is a valuable technique to assess and modulate human brain function in normal and pathological conditions. This critical review surveys the contributions of TMS to the diagnosis, insight into pathophysiology and treatment of genetically confirmed hereditary ataxias, a heterogeneous group of neurodegenerative disorders that can affect motor cortex and the corticospinal tract. Most studies were conducted on small sample sizes and focused on diagnostic approaches. The available data demonstrate early involvement of the corticospinal tract and motor cortex circuitry, and support the possible efficacy of cerebellar repetitive TMS (rTMS) as therapeutic approach. Further TMS-based studies are warranted, to establish biomarkers for early diagnosis and disease monitoring, explore the involvement of the cerebello-dentato-thalamo-cortical projection, study the effects of rTMS-induced plasticity, and utilize rTMS for treatment.
Intrathecal Baclofen Therapy for Painful Muscle Spasms in a Patient with Friedreich’s Ataxia
Kalyvas A, V, Drosos E, Korfias S, Gatzonis S, Themistocleous M, Sakas D, E,. Stereotact Funct Neurosurg ;:127-130 doi:10.1159/000489220
Friedreich's ataxia (FA) is the most frequent hereditary ataxia syndrome, while painful muscle spasms and spasticity have been reported in 11-15% of FA patients. This report describes the successful management of painful spasms in a 65-year-old woman with FA via intrathecal baclofen (ITB) therapy following unsuccessful medical treatments. To our knowledge, this is the third reported case in the literature. Unfortunately, the pathophysiological characteristics of muscle spasms in FA are not well explored and understood while the therapeutic mechanisms of the different treatments are rather vague. Taking into consideration the suggested spinal atrophy in FA, the clinical resemblance of FA and chronic spinal injury muscle spasms, together with the rapid ITB therapy effectiveness in alleviating FA muscle spasms, we attempted to suggest a putative pathophysiological mechanism acting at the spinal level and possibly explained by the presence of independent spinal locomotor systems producing muscle spasms. Specifically, overexcitement of these centers, due to loss of normal regulation from upper CNS levels, may result in the uncontrolled firing of secondary motor neurons and may be the key to producing muscle spasms. However, further research under experimental and clinical settings seems to be necessary.
Friedreich's ataxia (FA) is the most frequent hereditary ataxia syndrome, while painful muscle spasms and spasticity have been reported in 11-15% of FA patients. This report describes the successful management of painful spasms in a 65-year-old woman with FA via intrathecal baclofen (ITB) therapy following unsuccessful medical treatments. To our knowledge, this is the third reported case in the literature. Unfortunately, the pathophysiological characteristics of muscle spasms in FA are not well explored and understood while the therapeutic mechanisms of the different treatments are rather vague. Taking into consideration the suggested spinal atrophy in FA, the clinical resemblance of FA and chronic spinal injury muscle spasms, together with the rapid ITB therapy effectiveness in alleviating FA muscle spasms, we attempted to suggest a putative pathophysiological mechanism acting at the spinal level and possibly explained by the presence of independent spinal locomotor systems producing muscle spasms. Specifically, overexcitement of these centers, due to loss of normal regulation from upper CNS levels, may result in the uncontrolled firing of secondary motor neurons and may be the key to producing muscle spasms. However, further research under experimental and clinical settings seems to be necessary.
Scales for the clinical evaluation of cerebellar disorders
Katrin Bürk, Deborah A. Sival, Chapter 20 - Scales for the clinical evaluation of cerebellar disorders, In: Mario Manto and Thierry A.G.M. Huisman, Editor(s), Handbook of Clinical Neurology, Elsevier, 2018, Volume 154, Pages 329-339, doi:10.1016/B978-0-444-63956-1.00020-5.
Clinical scales represent an important tool not only for the initial grading/scoring of disease and assessment of progression, but also for the quantification of therapeutic effects in clinical trials. There are several scales available for the clinical evaluation of cerebellar symptoms. While some scales have been developed and evaluated for specific cerebellar disorders such as Friedreich ataxia, others reliably capture cerebellar symptoms with no respect to the underlying etiology. Each scale has its strengths and weaknesses. Extensive scales are certainly useful for thorough documentation of specific features of certain phenotypes, but this gain of information is not always essential for the purpose of a study. Therefore, compact and manageable scales like the Scale for the Assessment and Rating of Ataxia (SARA) or Brief Ataxia Rating Scale (BARS) are often preferred compared to more complex scales in observational and therapeutic studies.
Clinical scales represent an important tool not only for the initial grading/scoring of disease and assessment of progression, but also for the quantification of therapeutic effects in clinical trials. There are several scales available for the clinical evaluation of cerebellar symptoms. While some scales have been developed and evaluated for specific cerebellar disorders such as Friedreich ataxia, others reliably capture cerebellar symptoms with no respect to the underlying etiology. Each scale has its strengths and weaknesses. Extensive scales are certainly useful for thorough documentation of specific features of certain phenotypes, but this gain of information is not always essential for the purpose of a study. Therefore, compact and manageable scales like the Scale for the Assessment and Rating of Ataxia (SARA) or Brief Ataxia Rating Scale (BARS) are often preferred compared to more complex scales in observational and therapeutic studies.
Neuroimaging in Ataxias
Piccinin C.C., D’Abreu A. (2018) In: Habas C. (eds) The Neuroimaging of Brain Diseases. Contemporary Clinical Neuroscience. pp 215-232, Springer, Cham. Doi.:10.1007/978-3-319-78926-2_9
Despite each type of ataxia has its own peculiarities, most of the symptoms overlap among them, making the diagnosis difficult when considering only the clinical picture. In this context, neuroimaging has become a valuable tool to help the diagnosis but also to better understand the affected brain areas and the pathophysiology of these conditions. Techniques as voxel-based morphometry, diffusion tensor imaging, and surface-based analyses have brought to light the structural differences between the ataxic patients and controls and also helped to differentiate the diagnosis. Functional MRI and spectroscopy have detected changes in functionality and in chemical ratios.
Despite each type of ataxia has its own peculiarities, most of the symptoms overlap among them, making the diagnosis difficult when considering only the clinical picture. In this context, neuroimaging has become a valuable tool to help the diagnosis but also to better understand the affected brain areas and the pathophysiology of these conditions. Techniques as voxel-based morphometry, diffusion tensor imaging, and surface-based analyses have brought to light the structural differences between the ataxic patients and controls and also helped to differentiate the diagnosis. Functional MRI and spectroscopy have detected changes in functionality and in chemical ratios.
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