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Neurotherapeutics : the Journal of the... Jul 2010Autism is a complex and clinically heterogeneous disorder with a spectrum of symptoms. Clinicians, schools, and service agencies worldwide have reported a dramatic... (Review)
Review
Autism is a complex and clinically heterogeneous disorder with a spectrum of symptoms. Clinicians, schools, and service agencies worldwide have reported a dramatic increase in the number of children identified with autism. Despite expanding research, the etiology and underlying biological processes of autism remain poorly understood, and the relative contribution from genetic, epigenetic, and environmental factors remains unclear. Although autism affects primarily brain function (especially affect, social functioning, and cognition), it is unknown to what extent other organs and systems are disrupted. Published findings have identified widespread changes in the immune systems of children with autism, at both systemic and cellular levels. Brain specimens from autism subjects exhibit signs of active, ongoing inflammation, as well as alterations in gene pathways associated with immune signaling and immune function. Moreover, many genetic studies have indicated a link between autism and genes that are relevant to both the nervous system and the immune system. Alterations in these pathways can affect function in both systems. Together, these reports suggest that autism may in fact be a systemic disorder with connections to abnormal immune responses. Such immune system dysfunction may represent novel targets for treatment. A better understanding of the involvement of the immune response in autism, and of how early brain development is altered, may have important therapeutic implications.
Topics: Autistic Disorder; Autoimmune Diseases; Humans; Immunotherapy; Signal Transduction
PubMed: 20643381
DOI: 10.1016/j.nurt.2010.05.003 -
Frontiers in Bioscience (Landmark... Jan 2019In this review, we provide a Gulf region-centric view on autism with special focus on Qatar and Oman, including a review of seminal Qatari/Omani work from the... (Review)
Review
In this review, we provide a Gulf region-centric view on autism with special focus on Qatar and Oman, including a review of seminal Qatari/Omani work from the literature. In addition, we offer a summary from the World Innovation Summit for Health and World Innovation Summit for Education autism reports as well as outline some of the main challenges, best practices and a path forward for the Gulf region from a healthcare perspective. Finally, we highlight the role of public outreach and awareness to lay the groundwork for enlightened policy for intervention and resource allocation to care for autistic individuals.
Topics: Autistic Disorder; Health Knowledge, Attitudes, Practice; Humans; Oman; Patient Education as Topic; Public Health; Qatar
PubMed: 30468659
DOI: 10.2741/4721 -
Philosophical Transactions of the Royal... Feb 2003Autism is a developmental disorder characterized by impaired social interaction and communication as well as repetitive behaviours and restricted interests. The... (Review)
Review
Autism is a developmental disorder characterized by impaired social interaction and communication as well as repetitive behaviours and restricted interests. The consequences of this disorder for everyday life adaptation are extremely variable. The general public is now more aware of the high prevalence of this lifelong disorder, with ca. 0.6% of the population being affected. However, the signs and symptoms of autism are still puzzling. Since a biological basis of autism was accepted, approaches from developmental cognitive neuroscience have been applied to further our understanding of the autism spectrum. The study of the behavioural and underlying cognitive deficits in autism has advanced ahead of the study of the underlying brain abnormalities and of the putative genetic mechanisms. However, advances in these fields are expected as methodological difficulties are overcome. In this paper, recent developments in the field of autism are outlined. In particular, we review the findings of the three main neuro-cognitive theories of autism: theory-of-mind deficit, weak central coherence and executive dysfunction.
Topics: Autistic Disorder; Brain; Cognition; Humans; Psychological Theory; Psychophysiology
PubMed: 12639326
DOI: 10.1098/rstb.2002.1209 -
Journal of Pineal Research Apr 2021The human pineal gland regulates day-night dynamics of multiple physiological processes, especially through the secretion of melatonin. Using mass-spectrometry-based...
The human pineal gland regulates day-night dynamics of multiple physiological processes, especially through the secretion of melatonin. Using mass-spectrometry-based proteomics and dedicated analysis tools, we identify proteins in the human pineal gland and analyze systematically their variation throughout the day and compare these changes in the pineal proteome between control specimens and donors diagnosed with autism. Results reveal diverse regulated clusters of proteins with, among others, catabolic carbohydrate process and cytoplasmic membrane-bounded vesicle-related proteins differing between day and night and/or control versus autism pineal glands. These data show novel and unexpected processes happening in the human pineal gland during the day/night rhythm as well as specific differences between autism donor pineal glands and those from controls.
Topics: Autistic Disorder; Case-Control Studies; Circadian Rhythm; Humans; Pineal Gland; Protein Interaction Maps; Proteins; Proteome; Proteomics; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry; Time Factors
PubMed: 33368564
DOI: 10.1111/jpi.12713 -
Frontiers in Endocrinology 2023
Topics: Pregnancy; Female; Humans; Autistic Disorder; Autism Spectrum Disorder; Vitamins; Biomarkers; Early Diagnosis
PubMed: 38027222
DOI: 10.3389/fendo.2023.1298381 -
Neuroscience and Biobehavioral Reviews Nov 2014The phenotype of autism involves heterogeneous adaptive traits (strengths vs. disabilities), different domains of alterations (social vs. non-social), and various... (Review)
Review
The phenotype of autism involves heterogeneous adaptive traits (strengths vs. disabilities), different domains of alterations (social vs. non-social), and various associated genetic conditions (syndromic vs. nonsyndromic autism). Three observations suggest that alterations in experience-dependent plasticity are an etiological factor in autism: (1) the main cognitive domains enhanced in autism are controlled by the most plastic cortical brain regions, the multimodal association cortices; (2) autism and sensory deprivation share several features of cortical and functional reorganization; and (3) genetic mutations and/or environmental insults involved in autism all appear to affect developmental synaptic plasticity, and mostly lead to its upregulation. We present the Trigger-Threshold-Target (TTT) model of autism to organize these findings. In this model, genetic mutations trigger brain reorganization in individuals with a low plasticity threshold, mostly within regions sensitive to cortical reallocations. These changes account for the cognitive enhancements and reduced social expertise associated with autism. Enhanced but normal plasticity may underlie non-syndromic autism, whereas syndromic autism may occur when a triggering mutation or event produces an altered plastic reaction, also resulting in intellectual disability and dysmorphism in addition to autism. Differences in the target of brain reorganization (perceptual vs. language regions) account for the main autistic subgroups. In light of this model, future research should investigate how individual and sex-related differences in synaptic/regional brain plasticity influence the occurrence of autism.
Topics: Autistic Disorder; Cognition; Humans; Models, Neurological; Neocortex; Neuronal Plasticity
PubMed: 25155242
DOI: 10.1016/j.neubiorev.2014.07.012 -
Journal of Acupuncture and Meridian... Dec 2017Autism is considered as a complex developmental disability that appears during the first two years of life. It is considered as a neurological disorder that affects... (Review)
Review
Autism is considered as a complex developmental disability that appears during the first two years of life. It is considered as a neurological disorder that affects brain function leading to impaired development in social interaction and communication skills. Some clinical trials demonstrated that certain acupuncture points play relatively significant role in improving both signs and symptoms of this disease. Owing to limited information available about acupuncture point's combination and protocols, the present study aimed to explore the most frequently used acupuncture points and their channels for children with autism. Thirteen articles about autism enhancement were selected from 2007 to 2015. Acupoints and their channels used in these articles were analyzed according to usage frequencies. The present study identified the following main channels that contribute to autism symptoms enhancement along with the corresponding points' frequencies: Governing Vessel channel (12), Gall bladder channel (9), Kidney channel (8), Pericardium channel (7), Extra points channel (7), Liver channel (7), Heart channel (6), Conception vessel channel (6), and Bladder channel (6). On the other hand, the frequency of each corresponding acupuncture points are EX-HN1 (5), GV-17 (4), PC-6 (4), LR-3 (3), KI-3 (3), HT-7 (3), Lu-9 (3), GV-20 (2), GV-24 (2), GV-24.5 (2), GB-13(2), GB-19 (2), KI-4 (2), LR-4 (2), ST-36 (2), SP-3 (2), SP-6 (2). In conclusion, the consensus is that both channels and points may have an important role in autism symptoms enhancement. Based on the present study, the specific channels and points selection and stimulation types need further investigation through clinical trials.
Topics: Acupuncture Points; Acupuncture Therapy; Autistic Disorder; Evidence-Based Medicine; Humans; Meridians
PubMed: 29275793
DOI: 10.1016/j.jams.2017.09.001 -
Pediatric Research Jan 2019The observed heterogeneity of autism spectrum disorder (ASD)-and the diversity of rare germline mutations with which it has been associated-has been difficult to... (Review)
Review
OBJECTIVE
The observed heterogeneity of autism spectrum disorder (ASD)-and the diversity of rare germline mutations with which it has been associated-has been difficult to reconcile with knowledge of its pronounced heritability in the population.
METHODS
This article reviews and synthesizes recent family and developmental studies incorporating behavioral indices of inherited risk for ASD.
RESULTS
Autism may arise from critical combinations of early inherited neurobehavioral susceptibilities-some specific to autism, some not-each of which may be traceable to partially-independent sets of genetic variation. These susceptibilities and their respective genetic origins may not relate to the characterizing symptoms of autism (after it develops) in a straightforward way, and may account for "missing heritability" in molecular genetic studies.
CONCLUSIONS
Within-individual aggregations of a finite set of early inherited neurobehavioral susceptibilities-each individually common in the population-may account for a significant share of the heritability of ASD. Comprehensive identification of these underlying traits my help elucidate specific early intervention targets in individual patients, especially if autism represents a developmental consequence of earlier-interacting susceptibilities. Scientific understanding of the early ontogeny of autism will benefit from epidemiologically-rigorous, genetically-informative studies of robust endophenotypic candidates whose inter-relationships in infancy are mapped and normed.
Topics: Autistic Disorder; Child, Preschool; Early Diagnosis; Female; Genetic Predisposition to Disease; Humans; Male
PubMed: 30356093
DOI: 10.1038/s41390-018-0217-3 -
Experimental Neurology Jan 2018Given the prevalence and societal impact of autism spectrum disorders (ASD), there is an urgent need to develop innovative preventative strategies and treatments to... (Review)
Review
Given the prevalence and societal impact of autism spectrum disorders (ASD), there is an urgent need to develop innovative preventative strategies and treatments to reduce the alarming number of cases and improve core symptoms for afflicted individuals. Translational efforts between clinical and preclinical research are needed to (i) identify and evaluate putative causes of ASD, (ii) determine the underlying neurobiological mechanisms, (iii) develop and test novel therapeutic approaches and (iv) ultimately translate basic research into safe and effective clinical practices. However, modeling a uniquely human brain disorder, such as ASD, will require sophisticated animal models that capitalize on unique advantages of diverse species including drosophila, zebra fish, mice, rats, and ultimately, species more closely related to humans, such as the nonhuman primate. Here we discuss the unique contributions of the rhesus monkey (Macaca mulatta) model to ongoing efforts to understand the neurobiology of the disorder, focusing on the convergence of brain and behavior outcome measures that parallel features of human ASD.
Topics: Animals; Autism Spectrum Disorder; Autistic Disorder; Disease Models, Animal; Humans; Macaca mulatta; Primates; Social Behavior
PubMed: 28774750
DOI: 10.1016/j.expneurol.2017.07.021 -
Neural Plasticity 2011Cortical circuits in the brain are refined by experience during critical periods early in postnatal life. Critical periods are regulated by the balance of excitatory and... (Review)
Review
Cortical circuits in the brain are refined by experience during critical periods early in postnatal life. Critical periods are regulated by the balance of excitatory and inhibitory (E/I) neurotransmission in the brain during development. There is now increasing evidence of E/I imbalance in autism, a complex genetic neurodevelopmental disorder diagnosed by abnormal socialization, impaired communication, and repetitive behaviors or restricted interests. The underlying cause is still largely unknown and there is no fully effective treatment or cure. We propose that alteration of the expression and/or timing of critical period circuit refinement in primary sensory brain areas may significantly contribute to autistic phenotypes, including cognitive and behavioral impairments. Dissection of the cellular and molecular mechanisms governing well-established critical periods represents a powerful tool to identify new potential therapeutic targets to restore normal plasticity and function in affected neuronal circuits.
Topics: Animals; Autistic Disorder; Brain; Critical Period, Psychological; Disease Models, Animal; Humans; Nerve Net; Sensation; gamma-Aminobutyric Acid
PubMed: 21826280
DOI: 10.1155/2011/921680