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"Autism spectrum disorder"
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Motor Impairments in Children with Autism Spectrum Disorder: A Systematic Review and Meta-analysis
This article comprehensively reviews motor impairments in children with autism spectrum disorder (ASD) to: (1) determine the prevalence of motor problems in children with ASD; (2) understand the nature of motor difficulties in ASD and whether they are consistent with developmental coordination disorder (DCD); and (3) determine if the term DCD was used as a co-occurring diagnosis in children with ASD after publication of the DSM-5 in 2013. The following databases were systematically searched: MEDLINE, EMBASE, CINAHL, and PsycINFO from 2010 to December 2021. Articles were included if they: (1) were peer-reviewed and published in a scientific journal; (2) included children with ASD who were between 5 and 12 years; (3) used motor or function measures to assess motor abilities in children with ASD. Studies that included children with intellectual disabilities were excluded. Two independent reviewers reviewed titles, abstracts, and full-text articles for inclusion. Twenty-seven studies met the inclusion criteria and were assessed for quality by two independent reviewers using the Appraisal tool for Cross-Sectional Studies. The majority of articles (92.5%) indicated that 50–88% of children with ASD had significant motor impairments on standardized motor assessments and/or functional questionnaires. The nature of motor and function problems in ASD were consistent with DCD; however, only three out of 20 papers (15%) that were published from 2014 described the motor problems as DCD. One study reported that 15.1% of children with ASD with motor impairments had a co-occurring diagnosis of DCD, suggesting that DCD is under-recognized in this clinical population.
Journal Article
Defining autism : a guide to brain, biology, and behavior
\"Drawing on the most up-to-date research on autism, this incisive book argues that while there are different causes and variations of autism, there is in fact one biological autism. By examining developmental and genetic factors and investigating lesser known autism-related syndromes, it clears away misconceptions surrounding this complex condition\"-- Back cover.
BOOK
Autism spectrum disorder
Autism spectrum disorder is a term used to describe a constellation of early-appearing social communication deficits and repetitive sensory–motor behaviours associated with a strong genetic component as well as other causes. The outlook for many individuals with autism spectrum disorder today is brighter than it was 50 years ago; more people with the condition are able to speak, read, and live in the community rather than in institutions, and some will be largely free from symptoms of the disorder by adulthood. Nevertheless, most individuals will not work full-time or live independently. Genetics and neuroscience have identified intriguing patterns of risk, but without much practical benefit yet. Considerable work is still needed to understand how and when behavioural and medical treatments can be effective, and for which children, including those with substantial comorbidities. It is also important to implement what we already know and develop services for adults with autism spectrum disorder. Clinicians can make a difference by providing timely and individualised help to families navigating referrals and access to community support systems, by providing accurate information despite often unfiltered media input, and by anticipating transitions such as family changes and school entry and leaving.
Journal Article
Creativity and community among autism-spectrum youth : creating positive social updrafts through play and performance
\"This edited volume explores the roles of socially-channeled play and performance in the developmental trajectories of young people who fall on the autism spectrum. The contributors offer possibilities for channels of activity through which youth on the autism spectrum may find acceptance, affirmation, and kinship with others. \"Positive social updraft\" characterizes the social channels through which people of difference might be swept up into broader cultural currents such that they feel valued, appreciated, and empowered. These currents not only have an upward motion themselves, they also catch other elements in their draft and carry them up in their flow. A social updraft provides cultural meditational means that include people in a current headed \"upward,\" allowing people of atypical makeups to become fully involved in significant cultural activity that brings them a feeling of social belonging\"--The publisher.
Book
An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social interaction and communication, with restricted interests, activity and behaviors. ASD is highly familial, indicating that genetic background strongly contributes to the development of this condition. However, only a fraction of the total number of genes thought to be associated with the condition have been discovered. Moreover, other factors may play an important role in ASD onset. In fact, it has been shown that parental conditions and in utero and perinatal factors may contribute to ASD etiology. More recently, epigenetic changes, including DNA methylation and micro RNA alterations, have been associated with ASD and proposed as potential biomarkers. This review aims to provide a summary of the literature regarding ASD candidate genes, mainly focusing on synapse formation and functionality and relevant epigenetic and environmental aspects acting in concert to determine ASD onset.
Journal Article
The autists : women on the spectrum
An incisive and deeply candid account that explores autistic women in culture, myth, and society through the prism of the author's own diagnosis. Until the 1980s, autism was regarded as a condition found mostly in boys. Even in our time, autistic girls and women have largely remained invisible. When portrayed in popular culture, women on the spectrum often appear simply as copies of their male counterparts -- talented and socially awkward. Yet autistic women exist, and always have. They are varied in their interests and in their experiences. Autism may be relatively new as a term and a diagnosis, but not as a way of being and functioning in the world. It has always been part of the human condition. So who are these women, and what does it mean to see the world through their eyes? In The Autists, Clara Törnvall reclaims the language to describe autism and explores the autistic experience in arts and culture throughout history. From popular culture, films, and photography to literature, opera, and ballet, she dares to ask what it might mean to re-read these works through an autistic lens -- what we might discover if we allow perspectives beyond the neurotypical to take centre stage.
Book
The Role of the Immune System in Autism Spectrum Disorder
Autism is a neurodevelopmental disorder characterized by deficits in communication and social skills as well as repetitive and stereotypical behaviors. While much effort has focused on the identification of genes associated with autism, research emerging within the past two decades suggests that immune dysfunction is a viable risk factor contributing to the neurodevelopmental deficits observed in autism spectrum disorders (ASD). Further, it is the heterogeneity within this disorder that has brought to light much of the current thinking regarding the subphenotypes within ASD and how the immune system is associated with these distinctions. This review will focus on the two main axes of immune involvement in ASD, namely dysfunction in the prenatal and postnatal periods. During gestation, prenatal insults including maternal infection and subsequent immunological activation may increase the risk of autism in the child. Similarly, the presence of maternally derived anti-brain autoantibodies found in ~20% of mothers whose children are at risk for developing autism has defined an additional subphenotype of ASD. The postnatal environment, on the other hand, is characterized by related but distinct profiles of immune dysregulation, inflammation, and endogenous autoantibodies that all persist within the affected individual. Further definition of the role of immune dysregulation in ASD thus necessitates a deeper understanding of the interaction between both maternal and child immune systems, and the role they have in diagnosis and treatment.
Journal Article
Comorbid conditions among children with autism spectrum disorders
\"This book presents the similarities and intersections between Autism Spectrum Disorders and comorbid conditions in children. It describes the prevalence and magnitude of comorbid conditions occurring in conjunction with ASD that complicate diagnosis and can potentially lead to inappropriate treatment and negative outcomes. It addresses the strengths and limitations of age-appropriate assessment measures as well as activity and motor skill measurement methods. Specific comorbid disorders are examined through the review of core symptoms, prognostic and diagnostic issues and treatment options for children on the ASD spectrum. Featured topics include: challenging behaviors in children with ASD; conditions ranging from feeding and gastrointestinal disorders to epilepsy; developmental coordination disorder (DCD); intellectual disability (ID); methods and procedures for measuring comorbid psychological, medical and motor disorders.\"-- Provided by publisher.
BOOK
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Survey of postzygotic mosaic mutations (PZMs) in 5,947 trios with autism spectrum disorders (ASD) discovers differences in mutational properties between germline mutations and PZMs. Spatiotemporal analyses of the PZMs also revealed the association of the amygdala with ASD and implicated risk genes, including recurrent potential gain-of-function mutations in
SMARCA4
.
We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of
de novo
mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in ASD probands than controls (
P
< 1 × 10
−6
), and genes carrying these PZMs were enriched for expression in the amygdala (
P
= 5.4 × 10
−3
). Two genes (
KLF16
and
MSANTD2
) were significantly enriched for PZMs genome-wide, and other PZMs involved genes (
SCN2A
,
HNRNPU
and
SMARCA4
) whose mutation is known to cause ASD or other neurodevelopmental disorders. PZMs constitute a significant proportion of
de novo
mutations and contribute importantly to ASD risk.
Journal Article