Autism Spectrum Disorders and Their Clinical Management

2017 ◽  
Author(s):  
Ernest Pedapati ◽  
Jacob Shaffer

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder marked by impairments in social behavior and difficulties with repetitive and restrictive behaviors. In 2012, the prevalence of ASD in the United States was estimated to be one in 68 among children age 8 years. Although the etiology of ASD is poorly understood, many researchers have identified genetic, epigenetic, and environmental factors likely involved in the disorder. In approximately 10% of cases, a definitive association with a specific genetic defect can be identified. A diagnosis of ASD is best performed through an interdisciplinary assessment and is based on diagnostic criteria. The DSM-5 criteria on the clinical features of ASD fall into two core domains: impaired social communication and interaction and restricted, repetitive behaviors, interests, or activities. Today, although no definitive “cure” for ASD exists, state-of-the-art therapies and learning environments, along with medications, have resulted in reducing disease burden and quality of life for individuals affected by ASD. This review contains 3 figures, 2 tables, and 86 references. Key words: autism spectrum disorders, developmental disorders, language speech delay, social communication

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Elliott Rees ◽  
Hugo D. J. Creeth ◽  
Hai-Gwo Hwu ◽  
Wei J. Chen ◽  
Ming Tsuang ◽  
...  

AbstractPeople with schizophrenia are enriched for rare coding variants in genes associated with neurodevelopmental disorders, particularly autism spectrum disorders and intellectual disability. However, it is unclear if the same changes to gene function that increase risk to neurodevelopmental disorders also do so for schizophrenia. Using data from 3444 schizophrenia trios and 37,488 neurodevelopmental disorder trios, we show that within shared risk genes, de novo variants in schizophrenia and neurodevelopmental disorders are generally of the same functional category, and that specific de novo variants observed in neurodevelopmental disorders are enriched in schizophrenia (P = 5.0 × 10−6). The latter includes variants known to be pathogenic for syndromic disorders, suggesting that schizophrenia be included as a characteristic of those syndromes. Our findings imply that, in part, neurodevelopmental disorders and schizophrenia have shared molecular aetiology, and therefore likely overlapping pathophysiology, and support the hypothesis that at least some forms of schizophrenia lie on a continuum of neurodevelopmental disorders.


Author(s):  
Yashomathi

Autism spectrum disorders (ASDs) are complex neuro-developmental disorders. They demonstrate pervasive deficits in social communication, restricted and repetitive behaviors, cognitive impairments, etc. Most often individuals with ASDs are often considered “non-verbal” and they require comprehensive intervention to improve their functional communication skills. Augmentative and alternative communication (AAC) was always viewed as a “last resort” for people with complex communication needs when all other interventions failed to achieve the potential benefit. However, with growing evidence, AAC has been implemented even in children with communication difficulties to augment spoken language development. Thus, this chapter aims to discuss the characteristics of ASD, to describe the need for AAC intervention in children with ASD, challenges and practices of AAC in ASD, to review implementation of aided AAC systems for children with ASD in different contexts, to indicate the gaps and future prospective in AAC intervention for people with ASDs.


2021 ◽  
Vol 15 ◽  
Author(s):  
Ethan Lorsung ◽  
Ramanujam Karthikeyan ◽  
Ruifeng Cao

Autism spectrum disorders (ASDs) are a spectrum of neurodevelopmental disorders characterized by impaired social interaction and communication, as well as stereotyped and repetitive behaviors. ASDs affect nearly 2% of the United States child population and the worldwide prevalence has dramatically increased in recent years. The etiology is not clear but ASD is thought to be caused by a combination of intrinsic and extrinsic factors. Circadian rhythms are the ∼24 h rhythms driven by the endogenous biological clock, and they are found in a variety of physiological processes. Growing evidence from basic and clinical studies suggest that the dysfunction of the circadian timing system may be associated with ASD and its pathogenesis. Here we review the findings that link circadian dysfunctions to ASD in both experimental and clinical studies. We first introduce the organization of the circadian system and ASD. Next, we review physiological indicators of circadian rhythms that are found disrupted in ASD individuals, including sleep–wake cycles, melatonin, cortisol, and serotonin. Finally, we review evidence in epidemiology, human genetics, and biochemistry that indicates underlying associations between circadian regulation and the pathogenesis of ASD. In conclusion, we propose that understanding the functional importance of the circadian clock in normal and aberrant neurodevelopmental processes may provide a novel perspective to tackle ASD, and clinical treatments for ASD individuals should comprise an integrative approach considering the dynamics of daily rhythms in physical, mental, and social processes.


Author(s):  
Lisa Joseph ◽  
Sarah Spence ◽  
Audrey Thurm

Autism spectrum disorders (otherwise known as pervasive developmental disorders) are neurodevelopmental conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviors. In order to provide a framework for appreciating the advances that basic science and model systems have made to the field, this chapter will outline the behaviorally defining features of the disorder and describe the phenotype of autism. We will present the current diagnostic conceptualization and criteria for autism spectrum disorders, discuss the diagnostic assessment process, explore frequently co-occurring problems in individuals with autism, and introduce various types of treatments that are frequently employed in this population.


2011 ◽  
Vol 19 (01) ◽  
pp. 113-125 ◽  
Author(s):  
LEJUN GONG ◽  
XIAO SUN ◽  
DONGKE JIANG ◽  
SHENGTAO GONG

Autism spectrum disorders (ASD) represent a group of developmental disorders with strong genetic underpinnings. To explore the genetic complexity of ASD, we developed AutMiner (), a public web-portal for the collection of genes linked to ASD, and the implementation of an autism-centre network. AutMiner extracts candidate genes associated with ASD using text mining from 9276 abstracts. Compared to other recent systems, gene entries are richer to provide a reference for clinical geneticists. AutMiner also constructs ASD-related network consisting of autism-gene network and gene-gene network. To the best of our knowledge, this is the first web example of ASD-related network. The major focus of AutMiner is to offer a valuable reference tool for clinical geneticists in establishing and implementing effective genetic screening programmes for those patients with ASD.


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