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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 -
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 -
Frontiers in Bioscience (Landmark... Jun 2020The prevalence rate of Autism Spectrum Disorder (ASD) has reached over 1% world-wide prompting governments, health providers and schools to develop programs and policies... (Review)
Review
The prevalence rate of Autism Spectrum Disorder (ASD) has reached over 1% world-wide prompting governments, health providers and schools to develop programs and policies to address this challenging disorder. Here, we review the cause(s), as well as environmental factors, genetic mutations, and neural pathways that are implicated in ASD. We also discuss the criteria that are commonly used for the diagnosis of ASD and future clinical genetic testing that can aid in the diagnosis of this disorder. Finally, we provide practical steps that can be used to reduce the incidence and severity of ASD, as well as prognosis and treatment of autism.
Topics: Autistic Disorder; Calcium-Binding Proteins; Cell Adhesion Molecules, Neuronal; Genetic Heterogeneity; Genetic Predisposition to Disease; Humans; Membrane Proteins; Mutation; Nerve Tissue Proteins; Neural Cell Adhesion Molecules; Prognosis; Risk Factors; Signal Transduction
PubMed: 32472753
DOI: 10.2741/4873 -
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 -
Journal of Autism and Developmental... Dec 2021In this paper we review the impact of DSM-III and its successors on the field of autism-both in terms of clinical work and research. We summarize the events leading up... (Review)
Review
In this paper we review the impact of DSM-III and its successors on the field of autism-both in terms of clinical work and research. We summarize the events leading up to the inclusion of autism as a "new" official diagnostic category in DSM-III, the subsequent revisions of the DSM, and the impact of the official recognition of autism on research. We discuss the uses of categorical vs. dimensional approaches and the continuing tensions around broad vs. narrow views of autism. We also note some areas of current controversy and directions for the future.
Topics: Autism Spectrum Disorder; Autistic Disorder; Diagnostic and Statistical Manual of Mental Disorders; Humans; Recognition, Psychology
PubMed: 33624215
DOI: 10.1007/s10803-021-04904-1 -
International Journal of Environmental... Mar 2023Autisms Spectrum Disorders (ASD) are characterized by core symptoms (social communication and restricted and repetitive behaviors) and related comorbidities, including... (Review)
Review
Autisms Spectrum Disorders (ASD) are characterized by core symptoms (social communication and restricted and repetitive behaviors) and related comorbidities, including sensory anomalies, feeding issues, and challenging behaviors. Children with ASD experience significantly more feeding problems than their peers. In fact, parents and clinicians have to manage daily the burden of various dysfunctional behaviors of children at mealtimes (food refusal, limited variety of food, single food intake, or liquid diet). These dysfunctional behaviors at mealtime depend on different factors that are either medical/sensorial or behavioral. Consequently, a correct assessment is necessary in order to program an effective clinical intervention. The aim of this study is to provide clinicians with a guideline regarding food selectivity concerning possible explanations of the phenomenon, along with a direct/indirect assessment gathering detailed and useful information about target feeding behaviors. Finally, a description of evidence-based sensorial and behavioral strategies useful also for parent-mediated intervention is reported addressing food selectivity in children with ASD.
Topics: Humans; Child; Autistic Disorder; Food Preferences; Feeding Behavior; Autism Spectrum Disorder; Feeding and Eating Disorders
PubMed: 36982001
DOI: 10.3390/ijerph20065092 -
Cell Nov 2021There is increasing interest in the potential contribution of the gut microbiome to autism spectrum disorder (ASD). However, previous studies have been underpowered and...
There is increasing interest in the potential contribution of the gut microbiome to autism spectrum disorder (ASD). However, previous studies have been underpowered and have not been designed to address potential confounding factors in a comprehensive way. We performed a large autism stool metagenomics study (n = 247) based on participants from the Australian Autism Biobank and the Queensland Twin Adolescent Brain project. We found negligible direct associations between ASD diagnosis and the gut microbiome. Instead, our data support a model whereby ASD-related restricted interests are associated with less-diverse diet, and in turn reduced microbial taxonomic diversity and looser stool consistency. In contrast to ASD diagnosis, our dataset was well powered to detect microbiome associations with traits such as age, dietary intake, and stool consistency. Overall, microbiome differences in ASD may reflect dietary preferences that relate to diagnostic features, and we caution against claims that the microbiome has a driving role in ASD.
Topics: Adolescent; Age Factors; Autistic Disorder; Behavior; Child; Child, Preschool; Feces; Feeding Behavior; Female; Gastrointestinal Microbiome; Humans; Male; Phenotype; Phylogeny; Species Specificity
PubMed: 34767757
DOI: 10.1016/j.cell.2021.10.015 -
Nature Communications Aug 2020It is unclear whether transgender and gender-diverse individuals have elevated rates of autism diagnosis or traits related to autism compared to cisgender individuals in...
It is unclear whether transgender and gender-diverse individuals have elevated rates of autism diagnosis or traits related to autism compared to cisgender individuals in large non-clinic-based cohorts. To investigate this, we use five independently recruited cross-sectional datasets consisting of 641,860 individuals who completed information on gender, neurodevelopmental and psychiatric diagnoses including autism, and measures of traits related to autism (self-report measures of autistic traits, empathy, systemizing, and sensory sensitivity). Compared to cisgender individuals, transgender and gender-diverse individuals have, on average, higher rates of autism, other neurodevelopmental and psychiatric diagnoses. For both autistic and non-autistic individuals, transgender and gender-diverse individuals score, on average, higher on self-report measures of autistic traits, systemizing, and sensory sensitivity, and, on average, lower on self-report measures of empathy. The results may have clinical implications for improving access to mental health care and tailoring adequate support for transgender and gender-diverse individuals.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Autistic Disorder; Confidence Intervals; Female; Humans; Male; Middle Aged; Odds Ratio; Self Report; Transgender Persons; Young Adult
PubMed: 32770077
DOI: 10.1038/s41467-020-17794-1 -
Molecular Psychiatry Dec 2020The current diagnostic practices are linked to a 20-fold increase in the reported prevalence of ASD over the last 30 years. Fragmenting the autism phenotype into... (Review)
Review
The current diagnostic practices are linked to a 20-fold increase in the reported prevalence of ASD over the last 30 years. Fragmenting the autism phenotype into dimensional "autistic traits" results in the alleged recognition of autism-like symptoms in any psychiatric or neurodevelopemental condition and in individuals decreasingly distant from the typical population, and prematurely dismisses the relevance of a diagnostic threshold. Non-specific socio-communicative and repetitive DSM 5 criteria, combined with four quantitative specifiers as well as all their possible combinations, render limitless variety of presentations consistent with the categorical diagnosis of ASD. We propose several remedies to this problem: maintain a line of research on prototypical autism; limit the heterogeneity compatible with a categorical diagnosis to situations with a phenotypic overlap and a validated etiological link with prototypical autism; reintroduce the qualitative properties of autism presentations and of current dimensional specifiers, language, intelligence, comorbidity, and severity in the criteria used to diagnose autism in replacement of quantitative "social" and "repetitive" criteria; use these qualitative features combined with the clinical intuition of experts and machine-learning algorithms to differentiate coherent subgroups in today's autism spectrum; study these subgroups separately, and then compare them; and question the autistic nature of "autistic traits".
Topics: Artifacts; Autism Spectrum Disorder; Autistic Disorder; Child; Child Development Disorders, Pervasive; Comorbidity; Diagnostic and Statistical Manual of Mental Disorders; Humans
PubMed: 32355335
DOI: 10.1038/s41380-020-0748-y -
Evidence-Based Practices for Children, Youth, and Young Adults with Autism: Third Generation Review.Journal of Autism and Developmental... Nov 2021This systematic review describes a set of practices that have evidence of positive effects with autistic children and youth. This is the third iteration of a review of...
This systematic review describes a set of practices that have evidence of positive effects with autistic children and youth. This is the third iteration of a review of the intervention literature (Odom et al. in J Autism Dev Disorders 40(4):425-436, 2010a; Prevent School Fail 54(4):275-282, 2010b; Wong et al. in https://autismpdc.fpg.unc.edu/sites/autismpdc.fpg.unc.edu/files/imce/documents/2014-EBP-Report.pdf ; J Autism Dev Disorders 45(7):1951-1966, 2015), extending coverage to articles published between 1990 and 2017. A search initially yielded 31,779 articles, and the subsequent screening and evaluation process found 567 studies to include. Combined with the previous review, 972 articles were synthesized, from which the authors found 28 focused intervention practices that met the criteria for evidence-based practice (EBP). Former EBPs were recategorized and some manualized interventions were distinguished as meeting EBP criteria. The authors discuss implications for current practices and future research.
Topics: Adolescent; Autism Spectrum Disorder; Autistic Disorder; Child; Evidence-Based Practice; Humans; Schools; Young Adult
PubMed: 33449225
DOI: 10.1007/s10803-020-04844-2