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The American Journal of Nursing Oct 2020Autism spectrum disorder (ASD) is a condition characterized by impaired social communication as well as restricted and repetitive behaviors. It is considered a... (Review)
Review
Autism spectrum disorder (ASD) is a condition characterized by impaired social communication as well as restricted and repetitive behaviors. It is considered a neurodevelopmental disorder because it is associated with neurologic changes that may begin in prenatal or early postnatal life, alters the typical pattern of child development, and produces chronic signs and symptoms that usually manifest in early childhood and have potential long-term consequences. In past decades, autism was conceptualized as a strictly defined set of behaviors, usually accompanied by intellectual impairment. Today, it is recognized as a spectrum, ranging from mild to severe, in which behaviors vary substantially and the majority of children who fall on the spectrum have average to above average intellectual ability. Here, the authors discuss the risk factors for ASD, its epidemiology, common concurrent conditions, evaluation, diagnosis, treatments, and outcomes.
Topics: Adolescent; Adult; Autism Spectrum Disorder; Centers for Disease Control and Prevention, U.S.; Child; Child, Preschool; Comorbidity; Female; Humans; Infant; Male; Mass Screening; Nurse's Role; Risk Factors; United States; Young Adult
PubMed: 32976150
DOI: 10.1097/01.NAJ.0000718628.09065.1b -
EBioMedicine Feb 2020
Topics: Autism Spectrum Disorder; Environmental Pollution; Genetic Predisposition to Disease; Humans; Infections; Mutation
PubMed: 32089274
DOI: 10.1016/j.ebiom.2020.102691 -
Frontiers in Bioscience (Elite Edition) Jun 2016Autism spectrum disorder (ASD) includes a group of neurodevelopmental disorders that affect communication skills, social interaction and intellectual ability. Despite... (Review)
Review
Autism spectrum disorder (ASD) includes a group of neurodevelopmental disorders that affect communication skills, social interaction and intellectual ability. Despite evidence suggesting a strong genetic link with ASD, the genetic determinant remains unclear. Early studies focusing on candidate genes have shown that several genes associated with neuronal synaptic function are involved in development of ASD. Linkage studies have identified several single nucleotide polymorphisms (SNPs) associated with ASD, and genome-wide association studies have implicated several loci, but failed to recognize a single specific locus with strong significance, indicating heterogeneity in ASD genetic determinants. Detection of de novo copy number variations and single nucleotide variants in several ASD probands has confirmed the genetic heterogeneity of the disease. More interestingly, next generation sequencing approaches have recently identified novel candidate genes and several point mutations in sporadic ASDs, thus increasing our knowledge of ASD etiology. The current review summarizes the findings of recent studies using genetic and genomic approaches to understand the underlying molecular mechanisms of ASD.
Topics: Autism Spectrum Disorder; DNA Copy Number Variations; Epigenesis, Genetic; Genetic Association Studies; Humans
PubMed: 27100348
DOI: 10.2741/e776 -
Psychopharmacology Bulletin Jan 2018Complementary alternative medicine (CAM) is used to a greater degree in children and adolescents with autism spectrum disorder (ASD), when compared to children and... (Review)
Review
Complementary alternative medicine (CAM) is used to a greater degree in children and adolescents with autism spectrum disorder (ASD), when compared to children and adolescents without this diagnosis. There is limited evidence supporting the use of many of these treatments in ASD, despite their popularity. Current FDA approved medications for ASD target associated behavioral symptoms of the diagnosis, not the core symptoms of social communication deficits and restricted/repetitive behaviors. These medications are also associated with concerning adverse effects. Evidence-based therapies for core symptoms, such as applied behavior analysis (ABA), are sometimes difficult for families to access for various reasons. Families are sometimes hesitant to discuss their interest in CAM with physicians. Physicians report knowledge gaps about CAM and their use in ASD and concerns about potential conflict with parents regarding differing beliefs of CAM's role in the management of ASD. It is important for physicians to know the current evidence which examines the use of CAM treatments in children and adolescents with autism so that they may have conversations with families which are informed and evidence-based.
Topics: Adolescent; Autism Spectrum Disorder; Child; Complementary Therapies; Humans
PubMed: 29382959
DOI: No ID Found -
Drug Discovery Today Mar 2023Autism spectrum disorder (ASD) is a heterogenous group of neurodevelopmental disorders (NDDs) with a high unmet medical need. Currently, ASD is diagnosed according to... (Review)
Review
Autism spectrum disorder (ASD) is a heterogenous group of neurodevelopmental disorders (NDDs) with a high unmet medical need. Currently, ASD is diagnosed according to behavior-based criteria that overlook clinical and genomic heterogeneity, thus repeatedly resulting in failed clinical trials. Here, we summarize the scientific evidence pointing to the pressing need to create a precision medicine framework for ASD and other NDDs. We discuss the role of omics and systems biology to characterize more homogeneous disease subtypes with different underlying pathophysiological mechanisms and to determine corresponding tailored treatments. Finally, we provide recent initiatives towards tackling the complexity in NDDs for precision medicine and cost-effective drug discovery.
Topics: Humans; Autism Spectrum Disorder; Precision Medicine; Genomics; Genome
PubMed: 36623795
DOI: 10.1016/j.drudis.2023.103486 -
Biomedicine & Pharmacotherapy =... Apr 2022Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders that develop in early life due to interaction between several genetic and environmental... (Review)
Review
Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders that develop in early life due to interaction between several genetic and environmental factors and lead to alterations in brain function and structure. During the last decades, several mechanisms have been placed to explain the pathogenesis of autism. Unfortunately, these are reported in several studies and reviews which make it difficult to follow by the reader. In addition, some recent molecular mechanisms related to ASD have been unrevealed. This paper revises and highlights the major common molecular mechanisms responsible for the clinical symptoms seen in people with ASD, including the roles of common genetic factors and disorders, neuroinflammation, GABAergic signaling, and alterations in Ca signaling. Besides, it covers the major molecular mechanisms and signaling pathways involved in initiating the epileptic seizure, including the alterations in the GABAergic and glutamate signaling, vitamin and mineral deficiency, disorders of metabolism, and autoimmunity. Finally, this review also discusses sleep disorder patterns and the molecular mechanisms underlying them.
Topics: Autism Spectrum Disorder; Autistic Disorder; Humans; Signal Transduction
PubMed: 35149383
DOI: 10.1016/j.biopha.2022.112688 -
Journal of the American Academy of... Nov 2019In the United States, 12 million children primarily speak a language other than English at home. This represents about one in four children with autism spectrum disorder...
In the United States, 12 million children primarily speak a language other than English at home. This represents about one in four children with autism spectrum disorder (ASD) being raised in a bilingual environment. The old notion that bilingualism could "confuse" a child has long been refuted by a large body of research that suggests quite the opposite. As early as infancy, persons in a bilingual environment show advantages in certain cognitive tasks. Furthermore, there is evidence that bilingual persons perform better on tasks indicative of social understanding stemming from the ability to navigate the intricacies of more than one culture. Nevertheless, whether these advantages also apply to children with ASD remains a controversial topic..
Topics: Autism Spectrum Disorder; Child; Child, Preschool; Humans; Language Development; Multilingualism; Social Behavior; United States
PubMed: 31655722
DOI: 10.1016/j.jaac.2019.05.027 -
Genes Mar 2022Research has shown that genetics play a key role in the development of autism spectrum disorder (ASD). ASD has been linked to many genes and is a prominent feature in... (Review)
Review
Research has shown that genetics play a key role in the development of autism spectrum disorder (ASD). ASD has been linked to many genes and is a prominent feature in numerous genetic disorders. A genetic evaluation should be offered to any patient who receives a diagnosis of ASD, including deep phenotyping and genetic testing when clinically indicated. When insurance does not cover genetic testing for ASD patients, the lack of medical utility is often cited as a reason for prior authorization request denial. However, ample evidence exists that genetic testing has the power to change clinical management in many of these patients. Genetic testing that results in a diagnosis guides clinicians to screen for associated medical conditions and can direct targeted medical interventions. Given the potential for clinically actionable results, it is important that genetic testing be available and accessible to all patients with ASD.
Topics: Autism Spectrum Disorder; Genetic Testing; Humans
PubMed: 35456390
DOI: 10.3390/genes13040585 -
Current Opinion in Psychiatry Mar 2017We review studies of infants at risk for autism spectrum disorder (ASD), proposing that the earliest manifestations of disrupted brain development can shed light on... (Review)
Review
PURPOSE OF REVIEW
We review studies of infants at risk for autism spectrum disorder (ASD), proposing that the earliest manifestations of disrupted brain development can shed light on prebehavioural markers of risk and mechanisms underlying the heterogeneity of ASD.
RECENT FINDINGS
Prospective, longitudinal studies of infants at risk for ASD have revealed that behavioural signs of ASD are generally not observed until the second year of life. The developmental signs within the first year are often subtle and rooted in processes outside the core diagnostic domains of ASD, such as motor and visual perceptual function. However, studies examining early brain development and function have identified a myriad of atypicalities within the first year that are associated with risk for ASD.
SUMMARY
Longitudinal studies of high-risk infants provide a unique opportunity to identify and quantify the sources of the atypical development and developmental heterogeneity of ASD. Integration of assays of behaviour and brain in the first year of life, expansion of the definition of high risk, and coordinated efforts in multisite investigations to adequately power integrative studies will lead to new insights into mechanisms of atypical development and, ultimately, the ideal timing and target for interventions that aim to attenuate delays or impairments.
Topics: Autism Spectrum Disorder; Brain; Child, Preschool; Early Diagnosis; Female; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Prospective Studies; Risk Assessment
PubMed: 28009726
DOI: 10.1097/YCO.0000000000000312 -
Journal of Child Psychology and... Feb 2023This paper addresses the hypothesis that autism spectrum disorder features follow multiple long-term developmental trajectories, including an absence of symptoms that...
This paper addresses the hypothesis that autism spectrum disorder features follow multiple long-term developmental trajectories, including an absence of symptoms that were present in childhood, by the time of adolescence. In early work on this topic, this circumstance was called an 'optimal outcome'. To better reflect the reality of multiple excellent outcomes regardless of whether autism spectrum disorder features are present or absent, including autonomy, daily living skills, communication skills, and relationships and employment/activities outside the home, the terminology 'loss of autism diagnosis' (LAD) has been proposed as a substitute. The paper also contextualizes an LAD outcome within research, practice and advocacy.
Topics: Adolescent; Humans; Autism Spectrum Disorder; Autistic Disorder; Employment
PubMed: 35772988
DOI: 10.1111/jcpp.13658