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The American Journal of Psychiatry Apr 2023While autism spectrum disorder affects nearly 2% of children in the United States, little is known with certainty concerning the etiologies and brain systems involved.... (Review)
Review
While autism spectrum disorder affects nearly 2% of children in the United States, little is known with certainty concerning the etiologies and brain systems involved. This is due, in part, to the substantial heterogeneity in the presentation of the core symptoms of autism as well as the great number of co-occurring conditions that are common in autistic individuals. Understanding the neurobiology of autism is further hampered by the limited availability of postmortem brain tissue to determine the cellular and molecular alterations that take place in the autistic brain. Animal models therefore provide great translational value in helping to define the neural systems that constitute the social brain and mediate repetitive behaviors or interests. If they are based on genetic or environmental factors that contribute to autism, organisms from flies to nonhuman primates may serve as models of the neural structure or function of the autistic brain. Ultimately, successful models can also be employed to test the safety and effectiveness of potential therapeutics. This is an overview of the major animal species that are currently used as models of autism, including an appraisal of the advantages and limitations of each.
Topics: Animals; Humans; Autistic Disorder; Autism Spectrum Disorder; Brain; Neurosciences; Neurobiology
PubMed: 37002692
DOI: 10.1176/appi.ajp.20230153 -
Advances in Neurobiology 2020Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder generally manifesting in the first few years of life and tending to persist into adolescence and...
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder generally manifesting in the first few years of life and tending to persist into adolescence and adulthood. It is characterized by deficits in communication and social interaction and restricted, repetitive patterns of behavior, interests, and activities. It is a disorder with multifactorial etiology. In this chapter, we will focus on the most important and common epidemiological studies, pathogenesis, screening, and diagnostic tools along with an explication of genetic testing in ASD.
Topics: Adolescent; Adult; Autism Spectrum Disorder; Child; Humans
PubMed: 32006355
DOI: 10.1007/978-3-030-30402-7_1 -
Pediatric Clinics of North America Apr 2024
Topics: Humans; Autistic Disorder; Autism Spectrum Disorder
PubMed: 38423726
DOI: 10.1016/j.pcl.2024.01.009 -
Child and Adolescent Psychiatric... Apr 2020
Topics: Adult; Autism Spectrum Disorder; Female; Humans; Male; Young Adult
PubMed: 32169273
DOI: 10.1016/j.chc.2020.02.001 -
Trends in Pharmacological Sciences Dec 2023Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with uncertain origins. Understanding of the mechanisms underlying ASD remains limited, and... (Review)
Review
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with uncertain origins. Understanding of the mechanisms underlying ASD remains limited, and treatments are lacking. Genetic diversity complicates drug development. Given the complexity and severity of ASD symptoms and the rising number of diagnoses, exploring novel therapeutic strategies is essential. Here, we focus on shared molecular pathways between ASD and cancer and highlight recent progress on the repurposing of cancer drugs for ASD treatment, such as mTOR inhibitors, histone deacetylase inhibitors, and anti-inflammatory agents. We discuss how to improve trial design considering drug dose and patient age. Lastly, the discussion explores the critical aspects of side effects, commercial factors, and the efficiency of drug-screening pipelines; all of which are essential considerations in the pursuit of repurposing cancer drugs for addressing core features of ASD.
Topics: Humans; Autism Spectrum Disorder; Drug Repositioning; Drug Development; Drug Evaluation, Preclinical; Antineoplastic Agents; Neoplasms
PubMed: 37940430
DOI: 10.1016/j.tips.2023.09.008 -
Advances in Neurobiology 2020Autism spectrum disorder (ASD) is characterized by impairment in behavior, communication, and social interaction. Thus, accurate identification, regular behavioral and... (Review)
Review
Autism spectrum disorder (ASD) is characterized by impairment in behavior, communication, and social interaction. Thus, accurate identification, regular behavioral and other nonmedical interventions would improve the diagnosis, management, and treatment of this condition.In this chapter, we investigate the importance of diagnosing and identifying comorbid psychiatric disorders that occur with ASD as these conditions can often complicate treatment, and failure to recognize them can result in deficits that can persist into adolescence and adulthood. In addition, we explore the impact of comprehensive psychological intervention in ASD patients with comorbid psychiatric disorders with the ultimate goal of improving overall quality of life.
Topics: Autism Spectrum Disorder; Comorbidity; Humans; Mental Disorders
PubMed: 32006360
DOI: 10.1007/978-3-030-30402-7_6 -
International Journal of Molecular... Nov 2023Autism spectrum disorder (ASD) is a neurodevelopmental condition with symptoms that affect the whole personality and all aspects of life. Although there is a high degree... (Review)
Review
Autism spectrum disorder (ASD) is a neurodevelopmental condition with symptoms that affect the whole personality and all aspects of life. Although there is a high degree of heterogeneity in both its etiology and its characteristic behavioral patterns, the disorder is well-captured along the autistic triad. Currently, ASD status can be confirmed following an assessment of behavioral features, but there is a growing emphasis on conceptualizing autism as a spectrum, which allows for establishing a diagnosis based on the level of support need, free of discrete categories. Since ASD has a high genetic predominance, the number of genetic variations identified in the background of the condition is increasing exponentially as genetic testing methods are rapidly evolving. However, due to the huge amount of data to be analyzed, grouping the different DNA variations is still challenging. Therefore, in the present review, a multidimensional classification scheme was developed to accommodate most of the currently known genetic variants associated with autism. Genetic variations have been grouped according to six criteria (extent, time of onset, information content, frequency, number of genes involved, inheritance pattern), which are themselves not discrete categories, but form a coherent continuum in line with the autism spectrum approach.
Topics: Humans; Autism Spectrum Disorder; Autistic Disorder; Inheritance Patterns; Neurodevelopmental Disorders; Genetic Variation; DNA Copy Number Variations
PubMed: 38069091
DOI: 10.3390/ijms242316768 -
Turkish Journal of Ophthalmology Aug 2022The purpose of this study was to describe the ophthalmologic manifestations found in patients with autism spectrum disorder (ASD) and to assess their prevalence in the... (Observational Study)
Observational Study
OBJECTIVES
The purpose of this study was to describe the ophthalmologic manifestations found in patients with autism spectrum disorder (ASD) and to assess their prevalence in the different types of ASD.
MATERIALS AND METHODS
This prospective observational study included 344 patients with ASD seen over a period of 8.5 years. They were classified into four subgroups (autism, Asperger syndrome, pervasive developmental disorders not otherwise specified [PDD-NOS], and other). Data obtained from ophthalmological examinations were compared between the groups. Statistical analysis was performed with chi-square, Kruskal-Wallis, and Mann-Whitney tests.
RESULTS
Refractive defects were detected in 48.4% of the patients, with the most prevalent being hyperopia and astigmatism. There was a higher prevalence of myopia in Asperger syndrome. Evaluation of extraocular motility revealed the presence of strabismus in 15.4% of patients, with a statistically significantly higher prevalence in autism and the "other" disorders group. The most frequent type of strabismus was exotropia. Convergence was found to be normal in 43.6% of the patients. Nystagmus was observed in only 0.9% of patients. In the binocular sensory tests performed, patients with Asperger syndrome had significantly better results compared to the other groups. Optic nerve abnormalities were found in 4% of patients, with significantly higher prevalence in the "other" disorders group.
CONCLUSION
Ophthalmologic manifestations occur more frequently in patients with ASD than in the general child population. Of these, the most frequent are refractive defects and ocular motility disorder. Therefore, we consider it necessary to perform an ophthalmological evaluation in patients with ASDs.
Topics: Autism Spectrum Disorder; Autistic Disorder; Child; Humans; Prevalence; Refraction, Ocular; Strabismus
PubMed: 36016969
DOI: 10.4274/tjo.galenos.2021.46588 -
Seminars in Pediatric Neurology Jul 2020Autism spectrum disorder (ASD) is one of the most challenging neurodevelopmental disorders of our era that the Centers for Disease Control and Prevention estimates the...
Autism spectrum disorder (ASD) is one of the most challenging neurodevelopmental disorders of our era that the Centers for Disease Control and Prevention estimates the prevalence to be about 1 in 59 children in the United States. Over the last two decades, research focusing on ASD has increased, particularly in areas focusing on physiological disruptions such as mitochondrial and redox metabolism abnormalities, immune system dysfunction and environmental health, although research focusing on genetics and behavior still predominate the field. Drug treatment trials have provided few "home runs" with many failures and some promising, but preliminary, results. A series of two issues of Seminars in Pediatric Neurology will provide articles representing the cutting edge of research and clinical care for children with ASD. The first issue will contain three articles on Advances in Diagnostic Methodology and three articles on Cutting Edge Method for Studying Outcomes. The second issue will contain articles on Advances in Early Screening and Diagnosis on the Front Lines and Novel and Cutting-Edge Therapies. I believe the two issues will provide significant insight into new and exciting developments in the field as well as provide a framework for understanding the challenges ahead.
Topics: Autism Spectrum Disorder; Humans
PubMed: 32446436
DOI: 10.1016/j.spen.2020.100802 -
Genes Aug 2022In recent years, findings from genetic and other biological studies are starting to reveal the role of various molecular mechanisms that contribute to the etiology of...
In recent years, findings from genetic and other biological studies are starting to reveal the role of various molecular mechanisms that contribute to the etiology of ASD [...].
Topics: Autism Spectrum Disorder; Humans
PubMed: 36011288
DOI: 10.3390/genes13081377