Movement Disorders and Syndromic Autism: A Systematic Review.
Ontology highlight
ABSTRACT:
SUBMITTER: Bell L
PROVIDER: S-EPMC6331489 | biostudies-other | 2019 Jan
REPOSITORIES: biostudies-other
Publications
Movement Disorders and Syndromic Autism: A Systematic Review.
Bell L L Wittkowski A A Hare D J DJ
Journal of autism and developmental disorders 20190101 1
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, ...[more]
Similar Datasets
Project description:Gluten related disorders (GRD) represent a wide spectrum of clinical manifestations that are triggered by the ingestion of gluten. Coeliac disease (CD) or gluten sensitive enteropathy is the most widely recognised, but extra-intestinal manifestations have also been increasingly identified and reported. Such manifestations may exist in the absence of enteropathy. Gluten sensitivity (GS) is another term that has been used to include all GRD, including those where there is serological positivity for GS related antibodies in the absence of an enteropathy. Gluten ataxia (GA) is the commonest extraintestinal neurological manifestation and it has been the subject of many publications. Other movement disorders (MDs) have also been reported in the context of GS. The aim of this review was to assess the current available medical literature concerning MDs and GS with and without enteropathy. A systematic search was performed while using PubMed database. A total of 48 articles met the inclusion criteria and were included in the present review. This review highlights that the phenomenology of gluten related MDs is broader than GA and demonstrates that gluten-free diet (GFD) is beneficial in a great percentage of such cases.
| S-EPMC6115931 | biostudies-other
Project description:Movement disorders are frequent features of prionopathies. However, their prevalence and onset remain poorly described. We performed a systematic review of case reports and case series of pathologically- and genetically confirmed prionopathies. Timing of symptom and movement disorder onset were documented. Continuous variables were compared between two groups using the Wilcoxon rank sum test and between multiple groups using Kruskal-Wallis test. Categorical variables were compared using Fisher's exact test. A total of 324 cases were included in this analysis. Movement disorders were a common feature at the onset of symptoms in most prionopathies. Gait ataxia was present in more than half of cases in all types of prionopathies. The prevalence of limb ataxia (20%) and myoclonus (24%) was lower in Gerstmann-Sträussler-Scheinker disease compared to other prionopathies (p ≤ 0.004). Myoclonus was common but often a later feature in sporadic Creutzfeldt-Jakob disease (2 months before death). Chorea was uncommon but disproportionately prevalent in variant Creutzfeldt-Jakob disease (30% of cases; p < 0.001). In genetic Creutzfeldt-Jakob disease, E200K PRNP carriers exhibited gait and limb ataxia more often when compared to other mutation carriers. Movement disorders are differentially present in the course of the various prionopathies. The movement phenomenology and appearance are associated with the type of prion disease and the PRNP genotype and likely reflect the underlying pattern of neurodegeneration. Reliance on myoclonus as a diagnostic feature of sporadic Creutzfeldt-Jakob disease may delay its recognition given its relatively late appearance in the disease course.
| S-EPMC6925394 | biostudies-literature
Project description:Autism spectrum disorders (ASD) are a group of complex neurodevelopmental disorders. The prevalence of ASD in many South Asian countries is still unknown. The aim of this study was to systematically review available epidemiological studies of ASD in this region to identify gaps in our current knowledge.We searched, collected and evaluated articles published between January 1962 and July 2016 which reported the prevalence of ASD in eight South Asian countries. The search was conducted in line with the PRISMA guidelines.We identified six articles from Bangladesh, India, and Sri Lanka which met our predefined inclusion criteria. The reported prevalence of ASD in South Asia ranged from 0.09% in India to 1.07% in Sri Lanka that indicates up to one in 93 children have ASD in this region. Alarmingly high prevalence (3%) was reported in Dhaka city. Study sample sizes ranged from 374 in Sri Lanka to 18,480 in India. The age range varied between 1 and 30 years. No studies were found which reported the prevalence of ASD in Pakistan, Nepal, Bhutan, Maldives and Afghanistan. This review identifies methodological differences in case definition, screening instruments and diagnostic criteria among reported three countries which make it very difficult to compare the studies.Our study is an attempt at understanding the scale of the problem and scarcity of information regarding ASD in the South Asia. This study will contribute to the evidence base needed to design further research and make policy decisions on addressing this issue in this region. Knowing the prevalence of ASD in South Asia is vital to ensure the effective allocation of resources and services.
| S-EPMC5563911 | biostudies-other
Project description:ObjectiveSince the release of vaccines against coronavirus disease 2019 (COVID-19), there have been reports of vaccine-related neurologic complications. This study aimed to perform a descriptive systematic review of movement disorders associated with COVID-19 vaccines.MethodsWe described the demographics, clinical presentation, management, outcomes, and proposed pathomechanism of the patients. A systematic review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A standardized tool was used to assess the quality of the cases.ResultsWe identified 8 articles that met our inclusion criteria; these articles included 10 patients who developed movement disorders after vaccination. The majority were males (n = 8), with a median age of 64.5 years. The most common movement disorder was hemichorea. The rest presented with generalized chorea with myoclonus, cervical dystonia, and akathisia. Most patients respond to immunotherapy. The standardized tool used showed that most studies had a low risk of bias.ConclusionThe reported incidence of vaccine-related movement disorders was low based on available published cases.
| S-EPMC11300390 | biostudies-literature
Project description: Not available
| S-EPMC3944636 | biostudies-literature
Project description:Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies. There are also less-recognized movement disorder presentations of antibody-related disease, and a considerable overlap between the clinical phenotypes and the associated antibody spectra. In this review, we first describe the antibodies associated with each syndrome, highlight distinctive clinical or radiological 'red flags', and suggest a syndromic approach based on the predominant movement disorder presentation, age, and associated features. We then examine the underlying immunopathophysiology, which may guide treatment decisions in these neuroimmunological disorders, and highlight the exceptional interface between neuronal antibodies and neurodegeneration, such as the tauopathy associated with IgLON5 antibodies. Moreover, we elaborate the emerging pathophysiological parallels between genetic movement disorders and immunological conditions, with proteins being either affected by mutations or targeted by autoantibodies. Hereditary hyperekplexia, for example, is caused by mutations of the alpha subunit of the glycine receptor leading to an infantile-onset disorder with exaggerated startle and stiffness, whereas antibodies targeting glycine receptors can induce acquired hyperekplexia. The spectrum of such immunological and genetic analogies also includes cerebellar ataxias and some encephalopathies. Lastly, we discuss how these pathophysiological considerations could reflect on possible future directions regarding antigen-specific immunotherapies or targeting the pathophysiological cascades downstream of the antibody effects.
| S-EPMC5888977 | biostudies-literature
Project description:ObjectiveTo review the relationship between adiponectin levels and autism spectrum disorders (ASDs) in children.BackgroundASDs are associated with pervasive social interaction and communication abnormalities. Researchers have studied various pathophysiological mechanisms underlying ASDs to identify predictors for an early diagnosis to optimize treatment outcomes. Immune dysfunction, perhaps mediated by a decrease in anti-inflammatory adipokine, adiponectin, along with changes in other adipokines, may play a central role in increasing the risk for ASDs. However, other factors, such as low maternal vitamin D levels, atherosclerosis, diabetes, obesity, cardio-metabolic diseases, preterm delivery, and oxytocin gene polymorphism may also contribute to increased risk for ASDs.MethodsSearches on the database; PubMed, Google Scholar, and Cochrane using keywords; adiponectin, adipokines, ASD, autism, autistic disorder, included English-language studies published till September 2022. Data were extracted on mean differences between adiponectin levels in children with and without ASDs.ResultsThe search yielded six studies providing data on adiponectin levels in young patients with ASDs. As can be seen from Table 1, four of the six studies were positive for an inverse correlation between ASD and adiponectin levels. In addition, two of the four positive and one negative studies found low adiponectin levels associated with and the severity of autistic symptoms. However, results from one reviewed study were insignificant.ConclusionMost studies reviewed yielded lower adiponectin levels in children with ASDs as well as the severity of autistic symptoms.
| S-EPMC10832114 | biostudies-literature
Project description:Studies heretofore have shown inconsistent results on the link of ASD to malocclusion. Herein, we aimed to compare the prevalence of malocclusion among children and adolescents with ASD compared with non-ASD healthy counterparts through a systematic review. The electronic search focused on five databases, PubMed, Web of Science, EMBASE, LILACS, and OpenGrey until January 2022, and followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines (PROSPERO No. CRD42022298023). Observational and intervention studies that compared occlusion characteristics of ASD individuals under 18 years old with healthy controls were included. Pairwise random effects meta-analyses of odds ratio (OR) were performed. Methodological quality was assessed by using the Joanna Briggs Institute Critical Appraisal Checklist for cross-sectional studies. A total of thirteen studies were included for qualitative analysis, and seven for quantitative analysis. The results presented a great heterogeneity and moderate risk of bias; thus, it was not possible to state that there is a risk of malocclusion in individuals with ASD. Future studies should be carried out with strict criteria in the choice of samples, control group, and diagnosis of malocclusion in order to meet the necessary requirements for greater methodological quality.
| S-EPMC9147636 | biostudies-literature
Project description:BackgroundThe significance of falls and their repercussions in Parkinson's disease has been extensively researched. However, despite potentially serious effects on health and quality of life and negative impact on the healthcare system, there is not a sufficient understanding of the role of falls in hyperkinetic movement disorders (HKMDs). This review aims to provide an overview of the prevalence of falls, injuries, and preventive measures in the most common HKMDs.MethodsStudies up to May 1, 2022 were searched in PubMed using Medical Subjects Headings of relatively prevalent HKMDs associated with the terms "accidental falls", "injuries", "fractures", and "accident prevention".ResultsIn our review of 37 studies out of 155, we found evidence that for several HKMDs, such as spinocerebellar ataxia, essential tremor, Huntington's disease, and dystonia, fall risk is increased. Falls were reported in up to 84% of spinocerebellar ataxia patients, 59% of essential tremor patients, and 79% of Huntington's patients, with 65% of the latter falling frequently. Injuries occurred in up to 73% in Huntington and 74% in ataxia patients. Most of the common diseases characterized by HKMDs were investigated for both fall causes and consequences, but prevention studies were limited to spinocerebellar ataxia and Huntington's disease.DiscussionThe limited available data suggest that patients with several HKMDs can be considered to be at increased risk of falling and that the consequences can be serious. As a result, physicians should be advised to include fall exploration in their routine workup and provide advice for safer mobility. In general, more research into fall-related concerns in HKMDs is necessary.HighlightsIn contrast to Parkinson's disease, the prevalence of accidental falls, their repercussions, and preventive strategies are under-investigated in hyperkinetic movement disorders (HKMDs). Several HKMDs such as essential tremor, ataxia, and Huntington's disease have reported fall rates of up to 84% and fall-related injury rates of up to 74%. Therefore, routine examinations of HKMD patients should include a fall exploration and provide advice on safe mobility.
| S-EPMC9541119 | biostudies-literature
Project description:BackgroundCatatonic features can appear in autism spectrum disorders (ASDs). There can be overlap in symptoms across catatonia and ASD. The overall aim of this review is to provide evidence for the presence of catatonic features in subjects with ASD.MethodsA systematic literature search using the Web of Science database from inception to July 10, 2021 was conducted following PRISMA, MOOSE guidelines and the PROSPERO protocol. (CRD42021248615). Twelve studies with information about catatonia and ASD were reviewed. Data from a subset was used to conduct meta-analyses of the presence of catatonia in ASD.ResultsThe systematic review included 12 studies, seven of which were used for the meta-analysis, comprising 969 individuals. The mean age was 21.25 (7.5) years. Two studies (16.6%) included only children and adolescents. A total of 70-100% were males. Our meta-analysis showed that 10.4% (5.8-18.0 95%CI) of individuals with ASD have catatonia. Motor disturbances were common in ASD subjects with catatonia. No differences were found in comorbidity. Several treatments have been used in ASD with catatonic features, including benzodiazepines, antipsychotics, and electroconvulsive therapy (ECT). The findings of the systematic review showed that ECT might help manage catatonic symptoms.ConclusionsDifferent features of catatonia can exist in individuals with ASD and core symptoms of catatonia are reported in ASD. Longitudinal and longer-term studies are required to understand the relationship between catatonia and ASD, and the response of catatonic symptoms to treatment.
| S-EPMC8792870 | biostudies-literature