Molecular and cellular mechanisms of developmental synapse elimination in the cerebellum: Involvement of autism spectrum disorder-related genes
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Neural circuits are initially created with excessive synapse formation until around birth and undergo massive reorganization until they mature. During postnatal development, necessary synapses strengthen and remain, whereas unnecessary ones are weakened and eventually eliminated. These events, collectively called "synapse elimination" or "synapse pruning", are thought to be fundamental for creating functionally mature neural circuits in adult animals. In the cerebellum of neonatal rodents, Purkinje cells (PCs) receive synaptic inputs from multiple climbing fibers (CFs). Then, inputs from a single CF are strengthened and those from the other CFs are eliminated, and most PCs become innervated by single CFs by the end of the third postnatal week. These events are regarded as a representative model of synapse elimination. This review examines the molecular and cellular mechanisms of CF synapse elimination in the developing cerebellum and argues how autism spectrum disorder (ASD)-related genes are involved in CF synapse development. We introduce recent studies to update our knowledge, incorporate new data into the known scheme, and discuss the remaining issues and future directions.Recent public discussions suggest that there is much disagreement about the way autism is and should be described. This study sought to elicit the views and preferences of UK autism community members - autistic people, parents and their broader support network - about the terms they use to describe autism. In all, 3470 UK residents responded to an online survey on their preferred ways of describing autism and their rationale for such preferences. The results clearly show that people use many terms to describe autism. The most highly endorsed terms were 'autism' and 'on the autism spectrum', and to a lesser extent, 'autism spectrum disorder', for which there was consensus across community groups. The groups disagreed, however, on the use of several terms. The term 'autistic' was endorsed by a large percentage of autistic adults, family members/friends and parents but by considerably fewer professionals; 'person with autism' was endorsed by almost half of professionals but by fewer autistic adults and parents. Qualitative analysis of an open-ended question revealed the reasons underlying respondents' preferences. These findings demonstrate that there is no single way of describing autism that is universally accepted and preferred by the UK's autism community and that some disagreements appear deeply entrenched.
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Pervasive developmental disorder
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There has been a growing push for the Autistic and autism communities to be more actively involved in autism research. From January 2021, the journal
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Autism is an innate or developmental difference that occurs in the first years of life. While the number of individuals with autism in the world is increasing day by day, the importance of what should be known about autism also increases. However, it is still not possible to say that this information is sufficient. The definition of individuals with autism and their health problems, what autistic individuals do to express themselves, and who the individuals with autism are and their representatives are important. Some basic points such as how to raise awareness about the lives of individuals with autism have still not been overcome. The main theme of this study is how the media addresses the issue of individuals with autism, their problems, and needs. The research question of the study is how to read the reflections on autism through the media.
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This article reflects on how autism interacts with the Christian faith and the Church. From considerations of the lived experience of the author’s son, who has autism, tensions are noted between the two main theoretical stances which are commonly applied to autism and how this has a bearing on a ‘theology of autism’. Of these two stances, it is suggested that ‘Intense World’ theory is more useful because it treats autistic people with greater empathy; ironically, an aspect that an ‘impaired’ Theory of Mind suggests they lack. This has implications for how the Church can learn from and be enriched by neurodiverse people.
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ABSTRACT: Until recently, treatment for children with autism involved housing them in hospitals for the developmentally disabled. Today more slates are returning children with autism to their home communities, and more parents are choosing or are being required to keep their children with autism in their homes. Laws were developed to ensure that children with autism receive some form of education, often through the local school system. School nurses, who may not have experience working with children with autism, may feel uncertain about how to provide support for the child with autism. Approximately 300,000 persons in the United States have autism or display autistic behaviors. About one‐third are under age 21. People with autism come from all socioeconomic classes. Males are four times more likely to be affected by autism than females. People with autism can be expected to live a normal lifespan. (J Sch Health. 2001;71(3):96–100)
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The genetic liability for autism appears to be expressed not only as the full syndrome of autism, but in milder, qualitatively similar characteristics that collectively have been referred to as constituting the broad autism phenotype. Identification of components of the broad autism phenotype that segregate independently in relatives of autistic individuals may provide an index of genes that, when present together, may interact to produce autism. Inclusion of information on the broad autism phenotype in relatives, in linkage studies of autism, may provide a potentially important, complementary approach for detecting the genes causing this condition. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 105:34–35, 2001. © 2001 Wiley-Liss, Inc.
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Abstract Reducing the age of first autism diagnosis facilitates access to critical early intervention services. A current “waitlist crisis” for autism diagnostic evaluation thus demands that we consider novel use of available clinical resources. Previous work has found that expert autism clinicians can identify autism in young children with high specificity after only a brief observation; rapid identification by non‐experts remains untested. In the current study, 252 children ages 12–53 months presented for a comprehensive autism diagnostic evaluation. We found that junior clinicians in training to become autism specialists ( n = 29) accurately determined whether or not a young child would be diagnosed with autism in the first five minutes of the clinic visit in 75% of cases. Specificity of brief observations was high (0.92), suggesting that brief observations may be an effective tool for triaging young children toward autism‐specific interventions. In contrast, the lower negative predictive value (0.71) of brief observations, suggest that they should not be used to rule out autism. When trainees expressed more confidence in their initial impression, their impression was more likely to match the final diagnosis. These findings add to a body of literature showing that clinical observations of suspected autism should be taken seriously, but lack of clinician concern should not be used to rule out autism or overrule other indicators of likely autism, such as parent concern or a positive screening result.
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