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Journal of Child Psychology and... Mar 2020The concept of autism is a significant contribution from child psychiatry that has entered wider culture and public consciousness, and has evolved significantly over the... (Review)
Review
The concept of autism is a significant contribution from child psychiatry that has entered wider culture and public consciousness, and has evolved significantly over the last four decades. Taking a rather personal retrospective, reflecting on our own time in autism research, this review explores changes in the concept of autism and the implications of these for future research. We focus on seven major changes in how autism is thought of, operationalised, and recognised: (1) from a narrow definition to wide diagnostic criteria; (2) from a rare to a relatively common condition, although probably still under-recognised in women; (3) from something affecting children, to a lifelong condition; (4) from something discreet and distinct, to a dimensional view; (5) from one thing to many 'autisms', and a compound or 'fractionable' condition; (6) from a focus on 'pure' autism, to recognition that complexity and comorbidity is the norm; and finally, (7) from conceptualising autism purely as a 'developmental disorder', to recognising a neurodiversity perspective, operationalised in participatory research models. We conclude with some challenges for the field and suggestions for areas currently neglected in autism research.
Topics: Autism Spectrum Disorder; History, 20th Century; History, 21st Century; Humans
PubMed: 31994188
DOI: 10.1111/jcpp.13176 -
Pediatrics in Review Jul 2021
Topics: Autism Spectrum Disorder; Humans
PubMed: 34210755
DOI: 10.1542/pir.2020-000547 -
Primary Care Sep 2021This article describes the current understanding of the identification, classification, and diagnosis of autism spectrum disorder (ASD) as it relates to the practice of... (Review)
Review
This article describes the current understanding of the identification, classification, and diagnosis of autism spectrum disorder (ASD) as it relates to the practice of primary care providers. In addition, the most updated information regarding risk factors, as well as effective treatment strategies are provided. Although primary care providers are not typically the experts in ASD treatment, they constitute a critical component of the care team responsible for early identification and intervention initiation for patients with ASD.
Topics: Autism Spectrum Disorder; Humans; Risk Factors
PubMed: 34311851
DOI: 10.1016/j.pop.2021.04.003 -
European Child & Adolescent Psychiatry Jun 2021Across Europe, there is increased awareness of the frequency and importance of autism spectrum disorder (ASD), which is now recognised not only as a childhood disorder...
Across Europe, there is increased awareness of the frequency and importance of autism spectrum disorder (ASD), which is now recognised not only as a childhood disorder but as a heterogeneous, neurodevelopmental condition that persists throughout life. Services for individuals with autism and their families vary widely, but in most European countries, provision is limited. In 2018, European Society of Child and Adolescent Psychiatry (ESCAP) identified the need for a Practice Guidance document that would help to improve knowledge and practice, especially for individuals in underserviced areas. The present document, prepared by the ASD Working Party and endorsed by the ESCAP Board on October 3, 2019, summarises current information on autism and focuses on ways of detecting, diagnosing, and treating this condition.
Topics: Autism Spectrum Disorder; Evidence-Based Practice; Female; Guidelines as Topic; Humans; Male
PubMed: 32666205
DOI: 10.1007/s00787-020-01587-4 -
Pediatric Nephrology (Berlin, Germany) Oct 2021Neurodevelopmental impairments have been recognised as a major association of paediatric kidney disease and bladder dysfunction, presenting challenges to clinicians and... (Review)
Review
Neurodevelopmental impairments have been recognised as a major association of paediatric kidney disease and bladder dysfunction, presenting challenges to clinicians and families to provide reasonable adjustments in order to allow access to investigations and treatments. Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterised by impairments in social interaction/communication and repetitive sensory-motor behaviours. Mental health, learning and physical co-morbidities are common. There is emerging evidence that ASD and kidney disease have some overlaps with genetic copy number variants and environmental factors contributing to shared pathogenesis. Prevalence rates of ASD in kidney disease are currently not known. A high index of suspicion of underlying ASD is required when a young person presents with communication difficulties, anxiety or behaviour that challenges, which should then trigger referral for a neurodevelopmental and behavioural assessment. We discuss practical approaches for providing care, which include understanding methods of communication and sensory, behavioural and environmental adaptations.
Topics: Adolescent; Anxiety; Autism Spectrum Disorder; Child; Communication; Humans; Kidney Diseases; Mental Health
PubMed: 33340339
DOI: 10.1007/s00467-020-04875-y -
Revista Chilena de Pediatria Oct 2019
Topics: Autism Spectrum Disorder; Disabled Persons; Ethics; Humans
PubMed: 31859728
DOI: 10.32641/rchped.v90i5.1318 -
Genes Oct 2021Autism spectrum disorder (ASD) is a genetically heterogenous neurodevelopmental disorder. In the early years of next-generation sequencing, de novo germline variants... (Review)
Review
Autism spectrum disorder (ASD) is a genetically heterogenous neurodevelopmental disorder. In the early years of next-generation sequencing, de novo germline variants were shown to contribute to ASD risk. These germline mutations are present in all of the cells of an affected individual and can be detected in any tissue, including clinically accessible DNA sources such as blood or saliva. In recent years, studies have also implicated de novo somatic variants in ASD risk. These somatic mutations arise postzygotically and are present in only a subset of the cells of an affected individual. Depending on the developmental time and progenitor cell in which a somatic mutation occurs, it may be detectable in some tissues and not in others. Somatic mutations detectable at relatively low sequencing coverage in clinically accessible tissues are suggested to contribute to 3-5% of simplex ASD diagnoses, and "brain limited" somatic mutations have been identified in postmortem ASD brain tissue. Somatic mutations likely represent the genetic diagnosis in a proportion of otherwise unexplained individuals with ASD, and brain limited somatic mutations can be used as markers to discover risk genes, cell types, brain regions, and cellular pathways important for ASD pathogenesis and to potentially target for therapeutics.
Topics: Autism Spectrum Disorder; Genetic Predisposition to Disease; Germ-Line Mutation; High-Throughput Nucleotide Sequencing; Humans; Molecular Targeted Therapy; Mosaicism
PubMed: 34828306
DOI: 10.3390/genes12111699 -
Pediatric Clinics of North America Apr 2024Pediatricians have a critically important role in the care of children with autism, including conducting developmental screening to support early diagnosis and... (Review)
Review
Pediatricians have a critically important role in the care of children with autism, including conducting developmental screening to support early diagnosis and intervention, advising families about evidence-based treatments for autism spectrum disorder, and supporting families' emotional health as they care for a child with a developmental disability. The purpose of this article is to provide pediatricians with information about evidence-based autism treatments and how to determine which interventions are appropriate for children across the autism spectrum at different ages and developmental stages.
Topics: Child; Humans; Autistic Disorder; Autism Spectrum Disorder; Evidence-Based Medicine; Early Diagnosis; Pediatricians
PubMed: 38423716
DOI: 10.1016/j.pcl.2024.01.001 -
Medicina Mar 2024The Autism Spectrum Disorder is a neurobiological based disorder with a high percentage of heritability and a wide list of possible etiologies that presents very...
The Autism Spectrum Disorder is a neurobiological based disorder with a high percentage of heritability and a wide list of possible etiologies that presents very heterogeneous changes in neuronal architecture, connectivity and synaptogenesis with characteristic clinical manifestations whose origin points to environmental, immunological, genetic and other causes, without having been confirmed specific biomarkers. Diagnosis continues to be based on typical features including repetitive behaviors and impaired communication and social interaction. Their genetic and non-genetic risk factors are reviewed to advance knowledge about the pathological processes that may be related to their origin.
Topics: Humans; Autistic Disorder; Autism Spectrum Disorder; Biomarkers
PubMed: 38350622
DOI: No ID Found -
Current Psychiatry Reports Feb 2020We review evidence for the presence, quality, and correlates of interpersonal synchrony in autism spectrum disorder (ASD) across four domains: motor, conversational,... (Review)
Review
PURPOSE OF REVIEW
We review evidence for the presence, quality, and correlates of interpersonal synchrony in autism spectrum disorder (ASD) across four domains: motor, conversational, physiological, and neural. We also propose cognitive and neural mechanisms for the disruption of interpersonal synchrony and investigate synchrony as a mechanism of intervention in ASD.
RECENT FINDINGS
Across domains, synchrony is present but reduced or atypical in individuals with ASD during interactions with individuals with typical development (TD). Atypical synchrony may reflect the contribution of both intrapersonal mechanisms, such as atypical motor timing, and interpersonal mechanisms, such as atypical interindividual coupling. Research suggests evidence for synchrony interventions leading to improvements in some aspects of social behavior. Understanding synchrony in ASD has the potential to lead to biomarkers and interventions to support social functioning. However, further research should clarify mechanisms of atypical synchrony in ASD including taking features of the dyad into account.
Topics: Autism Spectrum Disorder; Communication; Humans; Social Behavior
PubMed: 32025922
DOI: 10.1007/s11920-020-1135-8