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Cureus Nov 2022A variant of autism spectrum disorder (ASD) known as Asperger syndrome (AS) is characterized by severe issues with interpersonal, verbal, and nonverbal... (Review)
Review
A variant of autism spectrum disorder (ASD) known as Asperger syndrome (AS) is characterized by severe issues with interpersonal, verbal, and nonverbal communication as well as restricted and repetitive patterns of behavior and activities. Although there is no known cause for ASD, various genetic as well as non-genetic risk factors that may act either alone or in combination to induce ASD have been identified. The occurrence of ASD has been increasing worldwide. Co-occurring neuropsychological diseases are frequently present as well. The premise for diagnosis is the observation of abnormal conduct, with diagnostic criteria emphasizing limitations in social interaction and communication as well as constrained, repetitive behavioral patterns, activities, or hobbies. The degree of the illness and the presence of intellectual impairment have a significant impact on the prognosis. Like autism, Asperger's can neither be prevented nor treated. There is no specific medical therapy that can effectively cure all of the symptoms of autism. However, medications may be used as adjuvant therapy for maladaptive behaviors and co-occurring mental problems. The treatment aims to reduce core impairments, increase functional ability, and reduce harmful behaviors that could limit functional skills. It is crucial to provide proper care, establish supportive networks for individuals who are affected and their families, and use effective therapies to enhance functioning and results.
PubMed: 36514569
DOI: 10.7759/cureus.31395 -
Nature Apr 2022Over the past few decades, neuroimaging has become a ubiquitous tool in basic research and clinical studies of the human brain. However, no reference standards currently...
Over the past few decades, neuroimaging has become a ubiquitous tool in basic research and clinical studies of the human brain. However, no reference standards currently exist to quantify individual differences in neuroimaging metrics over time, in contrast to growth charts for anthropometric traits such as height and weight. Here we assemble an interactive open resource to benchmark brain morphology derived from any current or future sample of MRI data ( http://www.brainchart.io/ ). With the goal of basing these reference charts on the largest and most inclusive dataset available, acknowledging limitations due to known biases of MRI studies relative to the diversity of the global population, we aggregated 123,984 MRI scans, across more than 100 primary studies, from 101,457 human participants between 115 days post-conception to 100 years of age. MRI metrics were quantified by centile scores, relative to non-linear trajectories of brain structural changes, and rates of change, over the lifespan. Brain charts identified previously unreported neurodevelopmental milestones, showed high stability of individuals across longitudinal assessments, and demonstrated robustness to technical and methodological differences between primary studies. Centile scores showed increased heritability compared with non-centiled MRI phenotypes, and provided a standardized measure of atypical brain structure that revealed patterns of neuroanatomical variation across neurological and psychiatric disorders. In summary, brain charts are an essential step towards robust quantification of individual variation benchmarked to normative trajectories in multiple, commonly used neuroimaging phenotypes.
Topics: Body Height; Brain; Humans; Longevity; Magnetic Resonance Imaging; Neuroimaging
PubMed: 35388223
DOI: 10.1038/s41586-022-04554-y -
Frontiers in Psychiatry 2023Autism spectrum disorder (ASD) is one the most disabling developmental disorders, imposing an extremely high economic burden. Obtaining as accurate prevalence estimates...
UNLABELLED
Autism spectrum disorder (ASD) is one the most disabling developmental disorders, imposing an extremely high economic burden. Obtaining as accurate prevalence estimates as possible is crucial to guide governments in planning policies for identification and intervention for individuals with ASD and their relatives. The precision of prevalence estimates can be heightened by summative analyses of the data collected around the world. To that end, we conducted a three-level mixed-effects meta-analysis. A systematic search of the Web of Science, PubMed, EMBASE, and PsycINFO databases from 2000 up to 13 July 2020 was performed, and reference lists of previous reviews and existing databases of prevalence studies were screened. Overall, 79 studies were included in the analysis of ASD and 59-in the analysis of previously existing relevant diagnoses: 30 for Autistic Disorder (AD), 15 for Asperger Syndrome (AS), and 14 for Atypical Autism (AA) and Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS); these research reports covered the period from 1994 to 2019. Pooled prevalence estimates were 0.72% (95% CI = 0.61-0.85) for ASD, 0.25% (95% CI = 0.18-0.33) for AD, 0.13% (95% CI = 0.07-0.20) for AS, and 0.18% (95% CI = 0.10-0.28) for the combined group of AA and PDD-NOS. Estimates were higher (1) for the studies that used records-review surveillance rather than other designs; (2) in North America compared with other geographical regions; and (3) in high-income compared with lower-income countries. The highest prevalence estimates were registered in the USA. There was an increase in autism prevalence estimates over time. The prevalence was also significantly higher for children aged between 6 and 12 years compared to children under the age of 5 and over the age of 13 years.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42019131525, identifier CRD42019131525.
PubMed: 36846240
DOI: 10.3389/fpsyt.2023.1071181 -
Advances in Neurobiology 2020Autism spectrum disorder (ASD) is a complex heterogeneous consortium of pervasive development disorders (PDD) which ranges from atypical autism, autism, and Asperger... (Review)
Review
Autism spectrum disorder (ASD) is a complex heterogeneous consortium of pervasive development disorders (PDD) which ranges from atypical autism, autism, and Asperger syndrome affecting brain in the developmental stage. This debilitating neurodevelopmental disorder results in both core as well as associated symptoms. Core symptoms observed in autistic patients are lack of social interaction, pervasive, stereotyped, and restricted behavior while the associated symptoms include irritability, anxiety, aggression, and several comorbid disorders.ASD is a polygenic disorder and is multifactorial in origin. Copy number variations (CNVs) of several genes that regulate the synaptogenesis and signaling pathways are one of the major factors responsible for the pathogenesis of autism. The complex integration of various CNVs cause mutations in the genes which code for molecules involved in cell adhesion, voltage-gated ion-channels, scaffolding proteins as well as signaling pathways (PTEN and mTOR pathways). These mutated genes are responsible for affecting synaptic transmission by causing plasticity dysfunction responsible, in turn, for the expression of ASD.Epigenetic modifications affecting DNA transcription and various pre-natal and post-natal exposure to a variety of environmental factors are also precipitating factors for the occurrence of ASD. All of these together cause dysregulation of glutamatergic signaling as well as imbalance in excitatory: inhibitory pathways resulting in glial cell activation and release of inflammatory mediators responsible for the aberrant social behavior which is observed in autistic patients.In this chapter we review and provide insight into the intricate integration of various genetic, epigenetic, and environmental factors which play a major role in the pathogenesis of this disorder and the mechanistic approach behind this integration.
Topics: Autism Spectrum Disorder; Autistic Disorder; DNA Copy Number Variations; Epigenesis, Genetic; Gene-Environment Interaction; Humans
PubMed: 32006358
DOI: 10.1007/978-3-030-30402-7_4 -
La Clinica Terapeutica 2019This systematic review of randomized controlled trials (RCTs) aims at evaluating the efficacy of Occupational therapy (OT) interventions in Asperger's syndrome (AS)...
This systematic review of randomized controlled trials (RCTs) aims at evaluating the efficacy of Occupational therapy (OT) interventions in Asperger's syndrome (AS) pediatric patients. We conducted a systematic review according to PRISMA guidelines. The screening of the literature was carried out on PUBMED, SCOPUS, WEB OF SCIENCE and OT SEEKER databases, TO December 2018. We selected three RCTs having the common objective to evaluate whether children with AS can improve their social skills thanks to OT treatments. The interventions targeted by the three selected studies were: LEGO therapy, Social Use of Language Programme, Let's Face It! software and Parent Training combined with the administration of risperidone. All the studies showed that the intervention groups improved their overall social ability.This review shows that OT interventions can help concretely AS children in overcoming their social issues. Nevertheless, more RCTs are needed to better understand the OT's benefits and limitations in AS patients.
Topics: Asperger Syndrome; Child; Cognitive Behavioral Therapy; Data Management; Humans; Occupational Therapy; Randomized Controlled Trials as Topic; Severity of Illness Index; Treatment Outcome
PubMed: 31612197
DOI: 10.7417/CT.2019.2164 -
Handbook of Clinical Neurology 2020Autism is a frequent, precocious behavioral constellation of social and communicative atypicalities associated with apparently restricted interests and repetitive...
Autism is a frequent, precocious behavioral constellation of social and communicative atypicalities associated with apparently restricted interests and repetitive behavior and paired with an uneven ability profile. Its definition has constantly broadened in the past 75 years, introducing phenotypes increasingly distant from its initial description, heterogeneous in intelligence and speech level, and associated conditions. When it is unassociated with other conditions, its origin is mostly genetic, transmissible, and favored by frequent polymorphisms with small effects present in the general population. Identified de novo rare mutations with large deleterious effects produce phenotypes only loosely related to nonsyndromic autism. Autism is associated with brain reorganization at multiple levels, and with a variant of typical information processing, i.e., the way humans perceive, memorize, manipulate, and attribute emotional value to available information. Its phenotype evolves over the span of life, with an overall reduction of autistic signs, but it still requires some level of support. There is no treatment for this condition; however, it is compatible with high levels of integration into society.
Topics: Autism Spectrum Disorder; Cognition; Humans; Phenotype
PubMed: 32977873
DOI: 10.1016/B978-0-444-64148-9.00010-7 -
International Journal of Molecular... Oct 2021Autism spectrum disorder (ASD) is an umbrella term encompassing several neurodevelopmental disorders such as Asperger syndrome or autism. It is characterised by the... (Review)
Review
Autism spectrum disorder (ASD) is an umbrella term encompassing several neurodevelopmental disorders such as Asperger syndrome or autism. It is characterised by the occurrence of distinct deficits in social behaviour and communication and repetitive patterns of behaviour. The symptoms may be of different intensity and may vary in types. Risk factors for ASD include disturbed brain homeostasis, genetic predispositions, or inflammation during the prenatal period caused by viruses or bacteria. The number of diagnosed cases is growing, but the main cause and mechanism leading to ASD is still uncertain. Recent findings from animal models and human cases highlight the contribution of glia to the ASD pathophysiology. It is known that glia cells are not only "gluing" neurons together but are key players participating in different processes crucial for proper brain functioning, including neurogenesis, synaptogenesis, inflammation, myelination, proper glutamate processing and many others. Despite the prerequisites for the involvement of glia in the processes related to the onset of autism, there are far too little data regarding the engagement of these cells in the development of ASD.
Topics: Animals; Astrocytes; Autism Spectrum Disorder; Behavior, Animal; Calcium Signaling; Cell Shape; Disease Models, Animal; Female; Humans; Male; Microglia; Models, Neurological; Oligodendroglia; Sex Factors; Social Skills
PubMed: 34768975
DOI: 10.3390/ijms222111544