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Movement Disorders : Official Journal... Jun 2022The second consensus criteria for the diagnosis of multiple system atrophy (MSA) are widely recognized as the reference standard for clinical research, but lack... (Review)
Review
BACKGROUND
The second consensus criteria for the diagnosis of multiple system atrophy (MSA) are widely recognized as the reference standard for clinical research, but lack sensitivity to diagnose the disease at early stages.
OBJECTIVE
To develop novel Movement Disorder Society (MDS) criteria for MSA diagnosis using an evidence-based and consensus-based methodology.
METHODS
We identified shortcomings of the second consensus criteria for MSA diagnosis and conducted a systematic literature review to answer predefined questions on clinical presentation and diagnostic tools relevant for MSA diagnosis. The criteria were developed and later optimized using two Delphi rounds within the MSA Criteria Revision Task Force, a survey for MDS membership, and a virtual Consensus Conference.
RESULTS
The criteria for neuropathologically established MSA remain unchanged. For a clinical MSA diagnosis a new category of clinically established MSA is introduced, aiming for maximum specificity with acceptable sensitivity. A category of clinically probable MSA is defined to enhance sensitivity while maintaining specificity. A research category of possible prodromal MSA is designed to capture patients in the earliest stages when symptoms and signs are present, but do not meet the threshold for clinically established or clinically probable MSA. Brain magnetic resonance imaging markers suggestive of MSA are required for the diagnosis of clinically established MSA. The number of research biomarkers that support all clinical diagnostic categories will likely grow.
CONCLUSIONS
This set of MDS MSA diagnostic criteria aims at improving the diagnostic accuracy, particularly in early disease stages. It requires validation in a prospective clinical and a clinicopathological study. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Topics: Brain; Consensus; Humans; Magnetic Resonance Imaging; Multiple System Atrophy; Prospective Studies
PubMed: 35445419
DOI: 10.1002/mds.29005 -
Movement Disorders : Official Journal... Dec 2022The incidence and prevalence of Huntington's disease (HD) based on a systematic review and meta-analysis of 20 studies published from 1985 to 2010 was estimated at 0.38... (Meta-Analysis)
Meta-Analysis Review
The incidence and prevalence of Huntington's disease (HD) based on a systematic review and meta-analysis of 20 studies published from 1985 to 2010 was estimated at 0.38 per 100,000 person-years (95% confidence interval [CI], 0.16-0.94) and 2.71 per 100,000 persons (95% CI, 1.55-4.72), respectively. Since 2010, there have been many new epidemiological studies of HD. We sought to update the global estimates of HD incidence and prevalence using data published up to February 2022 and perform additional analyses based on study continent. Medline and Embase were searched for epidemiological studies of HD published between 2010 and 2022. Risk of bias was assessed using a quality assessment tool. Estimated pooled prevalence or incidence was calculated using a random-effects meta-analysis. A total of 33 studies published between 2010 and 2022 were included. Pooled incidence was 0.48 cases per 100,000 person-years (95% CI, 0.33-0.63). Subgroup analysis by continent demonstrated a significantly higher incidence of HD in Europe and North America than in Asia. Pooled prevalence was 4.88 per 100,000 (95% CI, 3.38-7.06). Subanalyses by continent demonstrated that the prevalence of HD was significantly higher in Europe and North America than in Africa. The minor increase in prevalence (more so than incidence) demonstrated in this updated review could relate to the enhanced availability of molecular testing, earlier diagnosis, increased life expectancy, and de novo mutations. Limitations include variable case ascertainment methods and lacking case validation data. © 2022 Her Majesty the Queen in Right of Canada. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. Reproduced with the permission of the Minister of Public Health Agency of Canada.
Topics: Humans; Female; Incidence; Prevalence; Huntington Disease; Europe; North America
PubMed: 36161673
DOI: 10.1002/mds.29228 -
Complementary physical therapies for movement disorders in Parkinson's disease: a systematic review.European Journal of Physical and... Dec 2015The growth and popularity of complementary physical therapies for Parkinson's disease (PD) attempt to fill the gap left by conventional exercises, which does not always... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The growth and popularity of complementary physical therapies for Parkinson's disease (PD) attempt to fill the gap left by conventional exercises, which does not always directly target wellbeing, enjoyment and social participation.
AIM
To evaluate the effects of complementary physical therapies on motor performance, quality of life and falls in people living with PD.
DESIGN
Systematic review with meta-analysis.
POPULATION
Outpatients--adults diagnosed with idiopathic PD, male or female, modified Hoehn and Yahr scale I-IV, any duration of PD, any duration of physical treatment or exercise.
METHODS
Randomized controlled trials, non-randomized controlled trials and case series studies were identified by systematic searching of health and rehabilitation electronic databases. A standardized form was used to extract key data from studies by two independent researchers.
RESULTS
1210 participants from 20 randomized controlled trials, two non-randomized controlled trials and 13 case series studies were included. Most studies had moderately strong methodological quality. Dancing, water exercises and robotic gait training were an effective adjunct to medical management for some people living with PD. Virtual reality training, mental practice, aerobic training, boxing and Nordic walking training had a small amount of evidence supporting their use in PD.
CONCLUSION
On balance, alternative physical therapies are worthy of consideration when selecting treatment options for people with this common chronic disease.
CLINICAL REHABILITATION IMPACT
Complementary physical therapies such as dancing, hydrotherapy and robotic gait training appear to afford therapeutic benefits, increasing mobility and quality of life, in some people living with PD.
Topics: Accidental Falls; Complementary Therapies; Humans; Parkinson Disease; Physical Therapy Modalities; Psychomotor Performance; Quality of Life
PubMed: 26138090
DOI: No ID Found -
Movement Disorders : Official Journal... Jun 2023Antipsychotic-associated movement disorders remain common and disabling. Their screening and assessment are challenging due to clinical heterogeneity and different use...
BACKGROUND
Antipsychotic-associated movement disorders remain common and disabling. Their screening and assessment are challenging due to clinical heterogeneity and different use of nomenclature between psychiatrists and neurologists.
OBJECTIVE
An International Parkinson and Movement Disorder Society subcommittee aimed to rate psychometric quality of severity and screening instruments for antipsychotic-associated movement disorders.
METHODS
Following the methodology adopted by previous International Parkinson and Movement Disorders Society subcommittee papers, instruments for antipsychotic-associated movement disorders were reviewed, applying a classification as "recommended," "recommended with caveats," "suggested," or "listed."
RESULTS
Our review identified 23 instruments. The highest grade of recommendation reached is "recommended with caveats," assigned to seven severity rating instruments (Extrapyramidal Symptoms Rating Scale, Barnes Akathisia Rating Scale, Abnormal Involuntary Movements Scale, Drug-Induced Extra-Pyramidal Symptoms Scale, Maryland Psychiatric Research Centre involuntary movements scale, Simpson Angus Scale, and Matson Evaluation of Drug Side effects). Only three of these seven (Drug-Induced Extra-Pyramidal Symptoms Scale, Maryland Psychiatric Research Centre, Matson Evaluation of Drug Side effects) were also screening instruments. Their main caveats are insufficient demonstration of psychometric properties (internal consistency, skewing, responsiveness to change) and long duration of administration. Eight "suggested" instruments did not meet requirements for the "recommended" grade also because of insufficient psychometric validation. Other limitations shared by several instruments are lack of comprehensiveness in assessing the spectrum of antipsychotic-associated movement disorders and ambiguous nomenclature.
CONCLUSIONS
The high number of instruments "recommended with caveats" does not support the need for developing new instruments for antipsychotic-associated movement disorders. However, addressing the caveats with new psychometric studies and revising existing instruments to improve the clarity of their nomenclature are recommended next steps. © 2023 International Parkinson and Movement Disorder Society.
Topics: Humans; Antipsychotic Agents; Parkinson Disease; Dyskinesia, Drug-Induced; Basal Ganglia Diseases; Drug-Related Side Effects and Adverse Reactions
PubMed: 37081740
DOI: 10.1002/mds.29392 -
Journal of the Neurological Sciences Nov 2021Dysphagia is common in Parkinson's disease (PD). The effects of antiparkinsonian drugs on dysphagia are controversial. Several treatments for dysphagia are available but... (Review)
Review
BACKGROUND
Dysphagia is common in Parkinson's disease (PD). The effects of antiparkinsonian drugs on dysphagia are controversial. Several treatments for dysphagia are available but there is no consensus on their efficacy in PD.
OBJECTIVE
To conduct a systematic review of the literature and to define consensus statements on the treatment of dysphagia in PD and related nutritional management.
METHODS
A multinational group of experts in the field of neurogenic dysphagia and/or Parkinson's disease conducted a systematic evaluation of the literature and reported the results according to PRISMA guidelines. The evidence from the retrieved studies was analyzed and discussed in a consensus conference organized in Pavia, Italy, and the consensus statements were drafted. The final version of statements was subsequently achieved by e-mail consensus.
RESULTS
The literature review retrieved 64 papers on treatment and nutrition of patients with PD and dysphagia, mainly of Class IV quality. Based on the literature and expert opinion in cases where the evidence was limited or lacking, 26 statements were developed.
CONCLUSIONS
The statements developed by the Consensus panel provide a guidance for a multi-disciplinary treatment of dysphagia in patients with PD, involving neurologists, otorhinolaryngologists, gastroenterologists, phoniatricians, speech-language pathologists, dieticians, and clinical nutritionists.
Topics: Consensus; Deglutition Disorders; Humans; Italy; Parkinson Disease
PubMed: 34624796
DOI: 10.1016/j.jns.2021.120008 -
Neurological Sciences : Official... Mar 2023Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with mutations in > 80 loci designated SPG (SPastic parapleGia). The phenotypic spectrum of... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with mutations in > 80 loci designated SPG (SPastic parapleGia). The phenotypic spectrum of HSP can extend to include other neurologic features, including movement disorders. Our aim was to investigate genotype-phenotype associations in HSP with a focus on movement disorders.
METHODS
We performed a systematic review and individual participant data (IPD)-level meta-analysis by retrieving publications from Medline/EMBASE/Web of Science on HSP with a SPG genotype. Studies were included only if individual-level information was accessible and at least one patient with a movement disorder was reported for that genotype. Out of 21,957 hits, 192 manuscripts with a total of 1413 HSP cases were eligible. Data were compared between two HSP groups: manifested with (HSP-MD, n = 767) or without (HSP-nMD, n = 646) a movement disorder.
RESULTS
The HSP-MD group had an older age of onset (20.5 ± 16.0 vs. 17.1 ± 14.2 yr, p < 0.001) and less frequent autosomal dominant inheritance (7.6% vs. 30.1%, p < 0.001) compared to HSP-nMD. SPG7 (31.2%) and SPG11 (23.8%) were the most frequent genotypes in the HSP-MD group. HSP-MD with SPG7 had higher frequency of later onset during adulthood (82.9% vs. 8.5%), ataxia (OR = 12.6), extraocular movement disturbances (OR = 3.4) and seizure (OR = 3.7) compared to HSP-MD with SPG11. Conversely, SPG11 mutations were more frequently associated with consanguinity (OR = 4.1), parkinsonism (OR = 7.8), dystonia (OR = 5.4), peripheral neuropathy (OR = 26.9), and cognitive dysfunction (OR = 34.5).
CONCLUSION
This systematic IPD-level meta-analysis provides the largest data on genotype-phenotype associations in HSP-MD. Several clinically relevant phenotypic differences were found between various genotypes, which can possibly facilitate diagnosis in resource-limited settings.
Topics: Humans; Spastic Paraplegia, Hereditary; Paraplegia; Mutation; Movement Disorders; Phenotype; Proteins
PubMed: 36441344
DOI: 10.1007/s10072-022-06516-8 -
Journal of Autism and Developmental... Jan 2019Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A...
Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A systematic search of Medline, Embase, PsychINFO and CINAHL on the prevalence of specific movement disorder in syndromic autism associated with specific genetic syndromes identified 16 papers, all relating to Angelman syndrome or Rett syndrome. Prevalence rates of 72.7-100% and 25.0-27.3% were reported for ataxia and tremor, respectively, in Angelman syndrome. In Rett syndrome, prevalence rates of 43.6-50% were reported for ataxia and 27.3-48.3% for tremor with additional reports of dystonia, rigidity and pyramidal signs. However, reliable assessment measures were rarely used and recruitment was often not described in sufficient detail.
Topics: Angelman Syndrome; Autistic Disorder; Comorbidity; Humans; Movement Disorders; Prevalence; Rett Syndrome
PubMed: 30014250
DOI: 10.1007/s10803-018-3658-y -
Current Opinion in Pediatrics Feb 2016The present review includes the most up-to-date literature on the causes, epidemiology, diagnosis, and treatment of toe walking. (Review)
Review
PURPOSE OF REVIEW
The present review includes the most up-to-date literature on the causes, epidemiology, diagnosis, and treatment of toe walking.
RECENT FINDINGS
The prevalence of toe walking at age 5.5 years is 2% in normally developing children, and 41% in children with a neuropsychiatric diagnosis or developmental delays. A recent systematic review concluded that there is good evidence for casting and surgery in the treatment of idiopathic toe walking, with only surgery providing long-term results beyond 1 year. Botox combined with casting does not provide better outcomes compared with casting alone. Ankle-foot-orthoses restrict toe walking when worn, but children revert to equinus gait once the orthosis is removed.
SUMMARY
Toe walking can occur because of an underlying anatomic or neuromuscular condition, but in the majority of cases toe walking is idiopathic, without a discernable underlying cause. For some families, toe walking may simply be a cosmetic concern, whereas in other cases it can cause pain or functional issues. Treatment for toe walking is based on age, underlying cause, and the severity of tendon contracture. Described treatments include casting, chemical denervation, orthotics, physical therapy, and surgical lengthening of the gastroc-soleus-Achilles complex. A careful history, clinical exam, and selective diagnostic testing can be used to differentiate between different types of toe walking and determine the most appropriate treatment for each child.
Topics: Casts, Surgical; Child; Foot Orthoses; Gait Disorders, Neurologic; Humans; Medical History Taking; Movement Disorders; Muscle, Skeletal; Physical Examination; Tenotomy; Toes; Walking
PubMed: 26709689
DOI: 10.1097/MOP.0000000000000302 -
JAMA Neurology Apr 2014It is increasingly evident that Parkinson disease (PD) is not a single entity but rather a heterogeneous neurodegenerative disorder. (Review)
Review
IMPORTANCE
It is increasingly evident that Parkinson disease (PD) is not a single entity but rather a heterogeneous neurodegenerative disorder.
OBJECTIVE
To evaluate available evidence, based on findings from clinical, imaging, genetic and pathologic studies, supporting the differentiation of PD into subtypes.
EVIDENCE REVIEW
We performed a systematic review of articles cited in PubMed between 1980 and 2013 using the following search terms: Parkinson disease, parkinsonism, tremor, postural instability and gait difficulty, and Parkinson disease subtypes. The final reference list was generated on the basis of originality and relevance to the broad scope of this review.
FINDINGS
Several subtypes, such as tremor-dominant PD and postural instability gait difficulty form of PD, have been found to cluster together. Other subtypes also have been identified, but validation by subtype-specific biomarkers is still lacking.
CONCLUSIONS AND RELEVANCE
Several PD subtypes have been identified, but the pathogenic mechanisms underlying the observed clinicopathologic heterogeneity in PD are still not well understood. Further research into subtype-specific diagnostic and prognostic biomarkers may provide insights into mechanisms of neurodegeneration and improve epidemiologic and therapeutic clinical trial designs.
Topics: Biomarkers; Humans; Movement Disorders; Parkinson Disease; Tremor
PubMed: 24514863
DOI: 10.1001/jamaneurol.2013.6233 -
Tremor and Other Hyperkinetic Movements... Aug 2020The importance of vitamin D deficiency in Parkinson's disease, its negative influence on bone health, and even disease pathogenesis has been studied intensively....
BACKGROUND
The importance of vitamin D deficiency in Parkinson's disease, its negative influence on bone health, and even disease pathogenesis has been studied intensively. However, despite its possible severe impact on health and quality of life, there is not a sufficient understanding of its role in other movement disorders. This systematic review aims at providing an overview of the prevalence of vitamin D deficiency, bone metabolism alterations, and fractures in each of the most common hyperkinetic movement disorders (HKMDs).
METHODS
The study search was conducted through PubMed with keywords or Medical Related Subjects (MeSH) of common HKMDs linked with the terms of vitamin D, osteoporosis, injuries, and fractures.
RESULTS
Out of 1585 studies screened 40 were included in our review. They show that there is evidence that several HKMDs, including Huntington disease, Restless Legs Syndrome, and tremor, are associated with low vitamin D serum levels in up to 83% and 89% of patients. Reduced bone mineral density associated with vitamin D insufficiency was described in Huntington disease.
DISCUSSION
Our survey suggests that vitamin D deficiency, bone structure changes, and fractures are important but yet under-investigated issues in HKMDs. HKMDs-patients, particularly with a history of previous falls, should have their vitamin D-levels tested and supplemented where appropriate.
HIGHLIGHTS
Contrary to Parkinson's disease, vitamin D deficiency, and bone abnormalities are under-investigated in hyperkinetic movement disorders (HKMDs). Several HKMDs, including essential tremor, RLS, and Huntington disease, are associated with vitamin D deficiency in up to 89%, the latter also with reduced bone mineral density. Testing and where appropriate supplementation is recommended.
Topics: Bone Diseases, Metabolic; Comorbidity; Fractures, Bone; Humans; Hyperkinesis; Movement Disorders; Vitamin D Deficiency
PubMed: 32908795
DOI: 10.5334/tohm.74