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Journal of Autism and Developmental... Dec 2021In the last 40 years, there has been a huge increase in autism genetics research and a rapidly growing number of discoveries. We now know autism is one of the most... (Review)
Review
In the last 40 years, there has been a huge increase in autism genetics research and a rapidly growing number of discoveries. We now know autism is one of the most highly heritable disorders with negligible shared environmental contributions. Recent discoveries also show that rare variants of large effect size as well as small effect common gene variants all contribute to autism risk. These discoveries challenge traditional diagnostic boundaries and highlight huge heterogeneity in autism. In this review, we consider some of the key findings that are shaping current understanding of autism and what these discoveries mean for clinicians.
Topics: Autism Spectrum Disorder; Autistic Disorder; Genetic Predisposition to Disease; Humans
PubMed: 32940822
DOI: 10.1007/s10803-020-04685-z -
Nature Reviews. Genetics Jun 2017Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other... (Review)
Review
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other conditions besides autism. However, many different variants converge on common biological pathways. These findings indicate that aetiological heterogeneity, variable penetrance and genetic pleiotropy are pervasive characteristics of autism genetics. Although this advancing insight should improve clinical care, at present there is a substantial discrepancy between research knowledge and its clinical application. In this Review, we discuss the current challenges and opportunities for the translation of autism genetics knowledge into clinical practice.
Topics: Autistic Disorder; Genetic Predisposition to Disease; Genotyping Techniques; Humans
PubMed: 28260791
DOI: 10.1038/nrg.2017.4 -
Genes Mar 2023Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic neurobehavioral disorders associated with developmental impairments in social communication... (Review)
Review
Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic neurobehavioral disorders associated with developmental impairments in social communication skills and stereotypic, rigid or repetitive behaviors. We review common behavioral, psychiatric and genetic associations related to ASD. Autism affects about 2% of children with 4:1 male-to-female ratio and a heritability estimate between 70 and 90%. The etiology of ASD involves a complex interplay between inheritance and environmental factors influenced by epigenetics. Over 800 genes and dozens of genetic syndromes are associated with ASD. Novel gene-protein interactions with pathway and molecular function analyses have identified at least three functional pathways including chromatin modeling, Wnt, Notch and other signaling pathways and metabolic disturbances involving neuronal growth and dendritic spine profiles. An estimated 50% of individuals with ASD are diagnosed with chromosome deletions or duplications (e.g., 15q11.2, BP1-BP2, 16p11.2 and 15q13.3), identified syndromes (e.g., Williams, Phelan-McDermid and Shprintzen velocardiofacial) or single gene disorders. Behavioral and psychiatric conditions in autism impacted by genetics influence clinical evaluations, counseling, diagnoses, therapeutic interventions and treatment approaches. Pharmacogenetics testing is now possible to help guide the selection of psychotropic medications to treat challenging behaviors or co-occurring psychiatric conditions commonly seen in ASD. In this review of the autism spectrum disorder, behavioral, psychiatric and genetic observations and associations relevant to the evaluation and treatment of individuals with ASD are discussed.
Topics: Child; Humans; Male; Female; Autism Spectrum Disorder; Autistic Disorder; Syndrome; Chromosome Deletion; Epigenesis, Genetic
PubMed: 36980949
DOI: 10.3390/genes14030677 -
Neurologic Clinics May 2023Relative to males, women with autism spectrum disorder (ASD) have neurobiological and clinical presentation differences. Recent research suggests that the male/female... (Review)
Review
Relative to males, women with autism spectrum disorder (ASD) have neurobiological and clinical presentation differences. Recent research suggests that the male/female ASD prevalence gap is smaller than previously reported. Sex differences in symptom presentation as well as the male bias of ASD account for delayed/missed diagnosis among women. Investigating ASD and providing psychological evaluation referrals for women who are struggling socially and present with complex mental health conditions (e.g., ADHD, depression), even when they do not show typical autistic characteristics, is important. Accurate diagnosis facilitates understanding of challenges, increases access to treatments, and alleviates the burden of ASD.
Topics: Humans; Male; Female; Autistic Disorder; Autism Spectrum Disorder; Prevalence
PubMed: 37030965
DOI: 10.1016/j.ncl.2022.10.006 -
Nature Reviews. Neuroscience Nov 2017Autism is a complex neurodevelopmental condition, and little is known about its neurobiology. Much of autism research has focused on the social, communication and... (Review)
Review
Autism is a complex neurodevelopmental condition, and little is known about its neurobiology. Much of autism research has focused on the social, communication and cognitive difficulties associated with the condition. However, the recent revision of the diagnostic criteria for autism has brought another key domain of autistic experience into focus: sensory processing. Here, we review the properties of sensory processing in autism and discuss recent computational and neurobiological insights arising from attention to these behaviours. We argue that sensory traits have important implications for the development of animal and computational models of the condition. Finally, we consider how difficulties in sensory processing may relate to the other domains of behaviour that characterize autism.
Topics: Animals; Auditory Perception; Autistic Disorder; Humans; Neuroimaging; Photic Stimulation; Sensation; Touch; Visual Perception
PubMed: 28951611
DOI: 10.1038/nrn.2017.112 -
British Journal of Hospital Medicine... Dec 2021Recognition of autism and the associated co-occurring physical and mental health issues has increased over recent years. However, undergraduate and postgraduate...
Recognition of autism and the associated co-occurring physical and mental health issues has increased over recent years. However, undergraduate and postgraduate curricula take time to adapt and to impact on what is delivered in training so healthcare professionals, including doctors, report little training on these topics. Doctors need to know when someone might be autistic in order to respond to them appropriately. This article sets out the reasons why recognition of autism is important and the positive impacts of recognising and understanding autism on health outcomes, service delivery and patient experience. The negative consequences of not recognising autism or understanding the impact of autistic traits on the person are also explored. A companion article then covers how practice can be made more appropriate for autistic people to improve outcomes.
Topics: Autistic Disorder; Delivery of Health Care; Health Personnel; Humans
PubMed: 34983217
DOI: 10.12968/hmed.2021.0313 -
International Review of Psychiatry... May 2021Individuals with autism experience substantially higher rates of mood problems compared to the general population, which contribute to reduced quality of life and... (Review)
Review
Individuals with autism experience substantially higher rates of mood problems compared to the general population, which contribute to reduced quality of life and increased mortality through suicide. Here, we reviewed evidence for the clinical presentation, aetiology and therapeutic approaches for mood problems in autism. We identified a lack of validated tools for accurately identifying mood problems in individuals with autism, who may present with 'atypical' features (e.g. severe irritability). Risk factors for mood problems in autism appear to be largely overlapping with those identified in the general population, including shared genetic, environmental, cognitive, physiological/neurobiological mechanisms. However, these mechanisms are exacerbated directly/indirectly by lived experiences of autism, including increased vulnerability for chronic stress - often related to social-communication difficulties(/bullying) and sensory sensitivities. Lastly, current therapeutic approaches are based on recommendations for primary mood disorders, with little reference to the neurobiological/cognitive differences associated with autism. Thus, we recommend: 1) the development and validation of (objective) tools to identify mood problems in autism and measure therapeutic efficacy; 2) an interactive approach to investigating aetiologies in large-scale longitudinal studies, integrating different levels of analysis (e.g. cognitive, neurobiological) and lived experience; 3) testing potential treatments through high-quality (e.g. sufficiently powered, blinded) clinical trials, specifically for individuals with autism.
Topics: Autistic Disorder; Bullying; Humans; Mood Disorders; Quality of Life; Suicide
PubMed: 33648430
DOI: 10.1080/09540261.2021.1872506 -
CNS & Neurological Disorders Drug... 2018Autism is a developmental disorder that manifests itself in early childhood. Autism is characterized by inability to acquire social skills, repetitive behaviors and... (Review)
Review
BACKGROUND & OBJECTIVE
Autism is a developmental disorder that manifests itself in early childhood. Autism is characterized by inability to acquire social skills, repetitive behaviors and failure of speech and nonverbal communication development. Recent studies have shown that genetic mutations occur in majority of individuals with autism. These mutations cause a variety of disorders that ultimately lead to brain disorders. It is noteworthy that all mutations do not follow the same pattern. They encompass various kinds of mutations. Autism needs to be treated during childhood as untreated patients usually do not progress to the later stages of development. In this regard, many studies have been performed and numerous treatments have been proposed to improve the outcome of this disease.
CONCLUSION
In this review, we have discussed new advancements made in understanding the pathophysiology of autism. Furthermore, we have also discussed new treatments which have been proposed and have successfully translated affected children. Overall, it is concluded that new advances have largely helped these patients.
Topics: Autistic Disorder; Child; Deep Brain Stimulation; Disease Management; Gastrointestinal Microbiome; Humans
PubMed: 29984672
DOI: 10.2174/1871527317666180706141654 -
Medicina 2019Autism is a neurodevelopmental disorder characterized by commitment to social interaction and communication, associated with interests restricted and stereotyped...
Autism is a neurodevelopmental disorder characterized by commitment to social interaction and communication, associated with interests restricted and stereotyped behaviors with a high population prevalence, neurobiological bases and high heritability. Its etiology is heterogeneous, numerous genetic bases, environmental factors and epigenetic mechanisms have been recognized. Advances in molecular genetics, as well as epidemiological studies of large cohorts, have made it possible to identify specific medical entities, as well as genes and environmental factors partially or totally linked in their pathogenesis. This knowledge, according to the clinical characteristics, allows to guide the complementary studies, the therapeutic conducts, to infer a clinical prognosis and to propitiate the familiar genetic advice. In this work, the most prevalent clinical characteristics identified are described; the specific medical entities that are strongly related to autism are stated, as well as the recognized genes, the possible environmental factors and the epidemiological results that allow family counseling.
Topics: Autism Spectrum Disorder; Autistic Disorder; Environment; Epigenesis, Genetic; Genetic Counseling; Humans
PubMed: 30776274
DOI: No ID Found -
Current Pharmaceutical Design 2016Autism is a comprehensive growth abnormality in which social skills, language, communication, and behavioral skills are developed with delay and as diversionary. The... (Review)
Review
Autism is a comprehensive growth abnormality in which social skills, language, communication, and behavioral skills are developed with delay and as diversionary. The reasons for autism are unclear, but various theories of genetics, immunity, biological, and psychosocial factors have been proffered. In fact, autism is a complex disorder with distinct causes that usually co-occur. Although no medicine has been recognized to treat this disorder, pharmacological treatments can be effective in reducing its signs, such as self-mutilation, aggression, repetitive and stereotyped behaviors, inattention, hyperactivity, and sleeping disorders. Recently, complementary and alternative approaches have been considered to treat autism. Ginkgo biloba is one of the most effective plants with an old history of applications in neuropsychological disorders which recently is used for autism. The present review discusses the recent findings, pathophysiology, and etiology of autism and thereafter addresses the promising results of herbal remedies.
Topics: Autistic Disorder; Brain Chemistry; Cognition Disorders; Drug Discovery; Humans; Neuroimmunomodulation; Plant Preparations; Plants, Medicinal; Social Behavior Disorders
PubMed: 26561063
DOI: 10.2174/1381612822666151112151529