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Dialogues in Clinical Neuroscience Sep 2012The aim of this review is to summarize the key findings from genetic and epidemiological research, which show that autism is a complex disorder resulting from the... (Review)
Review
The aim of this review is to summarize the key findings from genetic and epidemiological research, which show that autism is a complex disorder resulting from the combination of genetic and environmental factors. Remarkable advances in the knowledge of genetic causes of autism have resulted from the great efforts made in the field of genetics. The identification of specific alleles contributing to the autism spectrum has supplied important pieces for the autism puzzle. However, many questions remain unanswered, and new questions are raised by recent results. Moreover, given the amount of evidence supporting a significant contribution of environmental factors to autism risk, it is now clear that the search for environmental factors should be reinforced. One aspect of this search that has been neglected so far is the study of interactions between genes and environmental factors.
Topics: Autistic Disorder; Environment; Gene Dosage; Gene-Environment Interaction; Genetic Predisposition to Disease; Humans; Molecular Epidemiology; Risk Factors
PubMed: 23226953
DOI: 10.31887/DCNS.2012.14.3/pchaste -
Lancet (London, England) Mar 2014Autism is a set of heterogeneous neurodevelopmental conditions, characterised by early-onset difficulties in social communication and unusually restricted, repetitive... (Review)
Review
Autism is a set of heterogeneous neurodevelopmental conditions, characterised by early-onset difficulties in social communication and unusually restricted, repetitive behaviour and interests. The worldwide population prevalence is about 1%. Autism affects more male than female individuals, and comorbidity is common (>70% have concurrent conditions). Individuals with autism have atypical cognitive profiles, such as impaired social cognition and social perception, executive dysfunction, and atypical perceptual and information processing. These profiles are underpinned by atypical neural development at the systems level. Genetics has a key role in the aetiology of autism, in conjunction with developmentally early environmental factors. Large-effect rare mutations and small-effect common variants contribute to risk. Assessment needs to be multidisciplinary and developmental, and early detection is essential for early intervention. Early comprehensive and targeted behavioural interventions can improve social communication and reduce anxiety and aggression. Drugs can reduce comorbid symptoms, but do not directly improve social communication. Creation of a supportive environment that accepts and respects that the individual is different is crucial.
Topics: Autistic Disorder; Early Diagnosis; Genetic Predisposition to Disease; Humans; Mass Screening; Prevalence; Prognosis; Risk Factors
PubMed: 24074734
DOI: 10.1016/S0140-6736(13)61539-1 -
Nature Reviews. Genetics Jun 2017Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other... (Review)
Review
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other conditions besides autism. However, many different variants converge on common biological pathways. These findings indicate that aetiological heterogeneity, variable penetrance and genetic pleiotropy are pervasive characteristics of autism genetics. Although this advancing insight should improve clinical care, at present there is a substantial discrepancy between research knowledge and its clinical application. In this Review, we discuss the current challenges and opportunities for the translation of autism genetics knowledge into clinical practice.
Topics: Autistic Disorder; Genetic Predisposition to Disease; Genotyping Techniques; Humans
PubMed: 28260791
DOI: 10.1038/nrg.2017.4 -
Neurologic Clinics May 2023Relative to males, women with autism spectrum disorder (ASD) have neurobiological and clinical presentation differences. Recent research suggests that the male/female... (Review)
Review
Relative to males, women with autism spectrum disorder (ASD) have neurobiological and clinical presentation differences. Recent research suggests that the male/female ASD prevalence gap is smaller than previously reported. Sex differences in symptom presentation as well as the male bias of ASD account for delayed/missed diagnosis among women. Investigating ASD and providing psychological evaluation referrals for women who are struggling socially and present with complex mental health conditions (e.g., ADHD, depression), even when they do not show typical autistic characteristics, is important. Accurate diagnosis facilitates understanding of challenges, increases access to treatments, and alleviates the burden of ASD.
Topics: Humans; Male; Female; Autistic Disorder; Autism Spectrum Disorder; Prevalence
PubMed: 37030965
DOI: 10.1016/j.ncl.2022.10.006 -
BMJ (Clinical Research Ed.) Aug 2003Parents want autism to be diagnosed as early as possible, and early intervention may improve long term outcomes. The authors of this review discuss the identification... (Review)
Review
Parents want autism to be diagnosed as early as possible, and early intervention may improve long term outcomes. The authors of this review discuss the identification and assessment process for children with autism and autistic spectrum disorder
Topics: Autistic Disorder; Child; Developmental Disabilities; Health Services Accessibility; Humans; Medical History Taking; Personality Assessment; Prognosis; Time Factors
PubMed: 12946972
DOI: 10.1136/bmj.327.7413.488 -
CNS & Neurological Disorders Drug... 2018Autism is a developmental disorder that manifests itself in early childhood. Autism is characterized by inability to acquire social skills, repetitive behaviors and... (Review)
Review
BACKGROUND & OBJECTIVE
Autism is a developmental disorder that manifests itself in early childhood. Autism is characterized by inability to acquire social skills, repetitive behaviors and failure of speech and nonverbal communication development. Recent studies have shown that genetic mutations occur in majority of individuals with autism. These mutations cause a variety of disorders that ultimately lead to brain disorders. It is noteworthy that all mutations do not follow the same pattern. They encompass various kinds of mutations. Autism needs to be treated during childhood as untreated patients usually do not progress to the later stages of development. In this regard, many studies have been performed and numerous treatments have been proposed to improve the outcome of this disease.
CONCLUSION
In this review, we have discussed new advancements made in understanding the pathophysiology of autism. Furthermore, we have also discussed new treatments which have been proposed and have successfully translated affected children. Overall, it is concluded that new advances have largely helped these patients.
Topics: Autistic Disorder; Child; Deep Brain Stimulation; Disease Management; Gastrointestinal Microbiome; Humans
PubMed: 29984672
DOI: 10.2174/1871527317666180706141654 -
Pediatrics Nov 2007Autism spectrum disorders are not rare; many primary care pediatricians care for several children with autism spectrum disorders. Pediatricians play an important role in... (Review)
Review
Autism spectrum disorders are not rare; many primary care pediatricians care for several children with autism spectrum disorders. Pediatricians play an important role in early recognition of autism spectrum disorders, because they usually are the first point of contact for parents. Parents are now much more aware of the early signs of autism spectrum disorders because of frequent coverage in the media; if their child demonstrates any of the published signs, they will most likely raise their concerns to their child's pediatrician. It is important that pediatricians be able to recognize the signs and symptoms of autism spectrum disorders and have a strategy for assessing them systematically. Pediatricians also must be aware of local resources that can assist in making a definitive diagnosis of, and in managing, autism spectrum disorders. The pediatrician must be familiar with developmental, educational, and community resources as well as medical subspecialty clinics. This clinical report is 1 of 2 documents that replace the original American Academy of Pediatrics policy statement and technical report published in 2001. This report addresses background information, including definition, history, epidemiology, diagnostic criteria, early signs, neuropathologic aspects, and etiologic possibilities in autism spectrum disorders. In addition, this report provides an algorithm to help the pediatrician develop a strategy for early identification of children with autism spectrum disorders. The accompanying clinical report addresses the management of children with autism spectrum disorders and follows this report on page 1162 [available at www.pediatrics.org/cgi/content/full/120/5/1162]. Both clinical reports are complemented by the toolkit titled "Autism: Caring for Children With Autism Spectrum Disorders: A Resource Toolkit for Clinicians," which contains screening and surveillance tools, practical forms, tables, and parent handouts to assist the pediatrician in the identification, evaluation, and management of autism spectrum disorders in children.
Topics: Autistic Disorder; Child; Health Planning Councils; Humans; Parenting
PubMed: 17967920
DOI: 10.1542/peds.2007-2361 -
Current Pharmaceutical Design 2016Autism is a comprehensive growth abnormality in which social skills, language, communication, and behavioral skills are developed with delay and as diversionary. The... (Review)
Review
Autism is a comprehensive growth abnormality in which social skills, language, communication, and behavioral skills are developed with delay and as diversionary. The reasons for autism are unclear, but various theories of genetics, immunity, biological, and psychosocial factors have been proffered. In fact, autism is a complex disorder with distinct causes that usually co-occur. Although no medicine has been recognized to treat this disorder, pharmacological treatments can be effective in reducing its signs, such as self-mutilation, aggression, repetitive and stereotyped behaviors, inattention, hyperactivity, and sleeping disorders. Recently, complementary and alternative approaches have been considered to treat autism. Ginkgo biloba is one of the most effective plants with an old history of applications in neuropsychological disorders which recently is used for autism. The present review discusses the recent findings, pathophysiology, and etiology of autism and thereafter addresses the promising results of herbal remedies.
Topics: Autistic Disorder; Brain Chemistry; Cognition Disorders; Drug Discovery; Humans; Neuroimmunomodulation; Plant Preparations; Plants, Medicinal; Social Behavior Disorders
PubMed: 26561063
DOI: 10.2174/1381612822666151112151529 -
Handbook of Clinical Neurology 2012The pervasive developmental disorders are a group of neurodevelopmental disorders that include autistic disorder, Asperger's disorder, pervasive developmental disorder -... (Review)
Review
The pervasive developmental disorders are a group of neurodevelopmental disorders that include autistic disorder, Asperger's disorder, pervasive developmental disorder - not otherwise specified (PDD-NOS), childhood disintegrative disorder (CDD), and Rett's disorder. All feature childhood onset with a constellation of symptoms spanning social interaction and communication and including atypical behavior patterns. The first three disorders (autistic disorder, Asperger's disorder, and PDD-NOS) are currently referred to as autism spectrum disorders, reflecting divergent phenotypic and etiological characteristics compared to Rett's disorder and CDD. This chapter reviews research and clinical information to appropriate medical diagnosis and treatment.
Topics: Autistic Disorder; Diagnosis, Differential; History, 20th Century; Humans
PubMed: 22608634
DOI: 10.1016/B978-0-444-52002-9.00023-1 -
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