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Advances in Neurobiology 2020Autism spectrum disorder (ASD) is a complex heterogeneous consortium of pervasive development disorders (PDD) which ranges from atypical autism, autism, and Asperger... (Review)
Review
Autism spectrum disorder (ASD) is a complex heterogeneous consortium of pervasive development disorders (PDD) which ranges from atypical autism, autism, and Asperger syndrome affecting brain in the developmental stage. This debilitating neurodevelopmental disorder results in both core as well as associated symptoms. Core symptoms observed in autistic patients are lack of social interaction, pervasive, stereotyped, and restricted behavior while the associated symptoms include irritability, anxiety, aggression, and several comorbid disorders.ASD is a polygenic disorder and is multifactorial in origin. Copy number variations (CNVs) of several genes that regulate the synaptogenesis and signaling pathways are one of the major factors responsible for the pathogenesis of autism. The complex integration of various CNVs cause mutations in the genes which code for molecules involved in cell adhesion, voltage-gated ion-channels, scaffolding proteins as well as signaling pathways (PTEN and mTOR pathways). These mutated genes are responsible for affecting synaptic transmission by causing plasticity dysfunction responsible, in turn, for the expression of ASD.Epigenetic modifications affecting DNA transcription and various pre-natal and post-natal exposure to a variety of environmental factors are also precipitating factors for the occurrence of ASD. All of these together cause dysregulation of glutamatergic signaling as well as imbalance in excitatory: inhibitory pathways resulting in glial cell activation and release of inflammatory mediators responsible for the aberrant social behavior which is observed in autistic patients.In this chapter we review and provide insight into the intricate integration of various genetic, epigenetic, and environmental factors which play a major role in the pathogenesis of this disorder and the mechanistic approach behind this integration.
Topics: Autism Spectrum Disorder; Autistic Disorder; DNA Copy Number Variations; Epigenesis, Genetic; Gene-Environment Interaction; Humans
PubMed: 32006358
DOI: 10.1007/978-3-030-30402-7_4 -
La Clinica Terapeutica 2019This systematic review of randomized controlled trials (RCTs) aims at evaluating the efficacy of Occupational therapy (OT) interventions in Asperger's syndrome (AS)...
This systematic review of randomized controlled trials (RCTs) aims at evaluating the efficacy of Occupational therapy (OT) interventions in Asperger's syndrome (AS) pediatric patients. We conducted a systematic review according to PRISMA guidelines. The screening of the literature was carried out on PUBMED, SCOPUS, WEB OF SCIENCE and OT SEEKER databases, TO December 2018. We selected three RCTs having the common objective to evaluate whether children with AS can improve their social skills thanks to OT treatments. The interventions targeted by the three selected studies were: LEGO therapy, Social Use of Language Programme, Let's Face It! software and Parent Training combined with the administration of risperidone. All the studies showed that the intervention groups improved their overall social ability.This review shows that OT interventions can help concretely AS children in overcoming their social issues. Nevertheless, more RCTs are needed to better understand the OT's benefits and limitations in AS patients.
Topics: Asperger Syndrome; Child; Cognitive Behavioral Therapy; Data Management; Humans; Occupational Therapy; Randomized Controlled Trials as Topic; Severity of Illness Index; Treatment Outcome
PubMed: 31612197
DOI: 10.7417/CT.2019.2164 -
Dialogues in Clinical Neuroscience Dec 2017Like nonaffected adults, individuals with autism spectrum disorders (ASDs) show the entire range of sexual behaviors. However, due to the core symptoms of the disorder...
Like nonaffected adults, individuals with autism spectrum disorders (ASDs) show the entire range of sexual behaviors. However, due to the core symptoms of the disorder spectrum, including deficits in social skills, sensory hypo- and hypersensitivities, and repetitive behaviors, some ASD individuals might develop quantitatively above-average or nonnormative sexual behaviors and interests. After reviewing the relevant literature on sexuality in high-functioning ASD individuals, we present novel findings on the frequency of normal sexual behaviors and those about the assessment of hypersexual and paraphilic fantasies and behaviors in ASD individuals from our own study. Individuals with ASD seem to have more hypersexual and paraphilic fantasies and behaviors than general-population studies suggest. However, this inconsistency is mainly driven by the observations for male participants with ASD. This could be due to the fact that women with ASD are usually more socially adapted and show less ASD symptomatology. The peculiarities in sexual behaviors in ASD patients should be considered both for sexual education and in therapeutic approaches.
Topics: Adult; Autism Spectrum Disorder; Chi-Square Distribution; Female; Humans; Male; Middle Aged; Paraphilic Disorders; Sexuality; Surveys and Questionnaires
PubMed: 29398933
DOI: 10.31887/DCNS.2017.19.4/dschoettle -
Handbook of Clinical Neurology 2020Autism is a frequent, precocious behavioral constellation of social and communicative atypicalities associated with apparently restricted interests and repetitive...
Autism is a frequent, precocious behavioral constellation of social and communicative atypicalities associated with apparently restricted interests and repetitive behavior and paired with an uneven ability profile. Its definition has constantly broadened in the past 75 years, introducing phenotypes increasingly distant from its initial description, heterogeneous in intelligence and speech level, and associated conditions. When it is unassociated with other conditions, its origin is mostly genetic, transmissible, and favored by frequent polymorphisms with small effects present in the general population. Identified de novo rare mutations with large deleterious effects produce phenotypes only loosely related to nonsyndromic autism. Autism is associated with brain reorganization at multiple levels, and with a variant of typical information processing, i.e., the way humans perceive, memorize, manipulate, and attribute emotional value to available information. Its phenotype evolves over the span of life, with an overall reduction of autistic signs, but it still requires some level of support. There is no treatment for this condition; however, it is compatible with high levels of integration into society.
Topics: Autism Spectrum Disorder; Cognition; Humans; Phenotype
PubMed: 32977873
DOI: 10.1016/B978-0-444-64148-9.00010-7 -
Revista de Neurologia Feb 2017Kanner, in 1943, and Asperger, in 1944, published papers that have been considered the first descriptions of autism. Kanner is acknowledged as having been the first to...
Kanner, in 1943, and Asperger, in 1944, published papers that have been considered the first descriptions of autism. Kanner is acknowledged as having been the first to recognise this condition, while Asperger is attributed with the identification of a milder form of autism which has been denominated Asperger's syndrome. Kanner's paper played an important role in the development of the conceptualisation of autism due to its being published in the United States, where it became popular in the field of child psychiatry. In contrast, Asperger's work, written in German during the period dominated by Nazism, was practically ignored until almost four decades later. A review of the historical data, mostly collected by Silberman, reveals that Kanner had first-hand knowledge of the work on autism that Asperger had begun ten years earlier. Moreover, on re-reading and analysing the pioneering publications it becomes clear that the contributions made by Asperger are still fully valid today, to the point of having intuited a complex polygenic aetiology and that it would fit in perfectly with autism spectrum disorder in the DSM-5.
Topics: Asperger Syndrome; Autistic Disorder; Child; Diagnostic and Statistical Manual of Mental Disorders; History, 20th Century; Humans
PubMed: 28256681
DOI: No ID Found -
Expert Review of Neurotherapeutics Mar 2015Asperger's syndrome (AS), a behavioral disorder that is related to autism, is associated with abnormal social functioning and repetitive behaviors but not with a... (Review)
Review
Asperger's syndrome (AS), a behavioral disorder that is related to autism, is associated with abnormal social functioning and repetitive behaviors but not with a decrease in intelligence or linguistic functionality. This article reviews the clinical diagnosis of AS and discusses the comorbid disorders that may be present with AS, as well as the efficacy, safety, and tolerability of pharmacotherapies given to AS patients, as reported in preclinical and clinical studies. AS may be present with several comorbid disorders including: attention deficit hyperactivity disorder, anxiety, schizophrenia, bipolar disorder, depression, and Tourette's syndrome. The difficulty in distinguishing AS from autism results in treating the comorbid disorder symptoms, rather than treating the symptoms of AS. Accordingly, there is a great need to further understand the psychobiology of AS and its association with other disorders, which should expand the pharmacological and non-pharmacological therapeutic options and improve the quality of life for AS patients.
Topics: Adrenergic alpha-Agonists; Antipsychotic Agents; Anxiety; Asperger Syndrome; Attention Deficit Disorder with Hyperactivity; Central Nervous System Stimulants; Depression; Diagnosis, Differential; Humans; Quality of Life
PubMed: 25655905
DOI: 10.1586/14737175.2015.1009898 -
International Journal of Molecular... Oct 2021Autism spectrum disorder (ASD) is an umbrella term encompassing several neurodevelopmental disorders such as Asperger syndrome or autism. It is characterised by the... (Review)
Review
Autism spectrum disorder (ASD) is an umbrella term encompassing several neurodevelopmental disorders such as Asperger syndrome or autism. It is characterised by the occurrence of distinct deficits in social behaviour and communication and repetitive patterns of behaviour. The symptoms may be of different intensity and may vary in types. Risk factors for ASD include disturbed brain homeostasis, genetic predispositions, or inflammation during the prenatal period caused by viruses or bacteria. The number of diagnosed cases is growing, but the main cause and mechanism leading to ASD is still uncertain. Recent findings from animal models and human cases highlight the contribution of glia to the ASD pathophysiology. It is known that glia cells are not only "gluing" neurons together but are key players participating in different processes crucial for proper brain functioning, including neurogenesis, synaptogenesis, inflammation, myelination, proper glutamate processing and many others. Despite the prerequisites for the involvement of glia in the processes related to the onset of autism, there are far too little data regarding the engagement of these cells in the development of ASD.
Topics: Animals; Astrocytes; Autism Spectrum Disorder; Behavior, Animal; Calcium Signaling; Cell Shape; Disease Models, Animal; Female; Humans; Male; Microglia; Models, Neurological; Oligodendroglia; Sex Factors; Social Skills
PubMed: 34768975
DOI: 10.3390/ijms222111544 -
Developmental Medicine and Child... Nov 2023
Topics: Humans; Asperger Syndrome
PubMed: 37641436
DOI: 10.1111/dmcn.15741 -
Autism Research : Official Journal of... Apr 2017Community-based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this predominance of...
Community-based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this predominance of males are largely unknown, but the way girls score on standardized categorical diagnostic tools might account for the underrecognition of ASD in girls. Despite the existence of different norms for boys and girls with ASD on several major screening tests, the algorithm of the Autism Diagnosis Interview-Revised (ADI-R) has not been reformulated. The aim of our study was to investigate which ADI-R items discriminate between males and females, and to evaluate their weighting in the final diagnosis of autism. We then conducted discriminant analysis (DA) on a sample of 594 probands including 129 females with ASD, recruited by the Paris Autism Research International Sibpair (PARIS) Study. A replication analysis was run on an independent sample of 1716 probands including 338 females with ASD, recruited through the Autism Genetics Resource Exchange (AGRE) program. Entering the raw scores for all ADI-R items as independent variables, the DA correctly classified 78.9% of males and 72.9% of females (P < 0.001) in the PARIS cohort, and 72.2% of males and 68.3% of females (P < 0.0001) in the AGRE cohort. Among the items extracted by the stepwise DA, four belonged to the ADI-R algorithm used for the final diagnosis of ASD. In conclusion, several items of the ADI-R that are taken into account in the diagnosis of autism significantly differentiates between males and females. The potential gender bias thus induced may participate in the underestimation of the prevalence of ASD in females. Autism Res 2016,. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 680-689. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
Topics: Adolescent; Asperger Syndrome; Autism Spectrum Disorder; Autistic Disorder; Child; Diagnostic Errors; Female; Humans; Male; Prevalence; Reference Values; Sex Factors
PubMed: 27809408
DOI: 10.1002/aur.1715 -
Basic and Clinical Neuroscience 2017Asperger syndrome (AS) is a subtype of Autism Spectrum Disorder (ASD) characterized by major problems in social and nonverbal communication, together with limited and... (Review)
Review
Asperger syndrome (AS) is a subtype of Autism Spectrum Disorder (ASD) characterized by major problems in social and nonverbal communication, together with limited and repetitive forms of behavior and interests. The linguistic and cognitive development in AS is preserved which help us to differentiate it from other subtypes of ASD. However, significant effects of AS on cognitive abilities and brain functions still need to be researched. Although a clear cut pathology for Asperger has not been identified yet, recent studies have largely focused on brain imaging techniques to investigate AS. In this regard, we carried out a systematic review on behavioral, cognitive, and neural markers (specifically using MRI and fMRI) studies on AS. In this paper, behavior, motor skills and language capabilities of individuals with Asperger are compared to those in healthy controls. In addition, common findings across MRI and fMRI based studies associated with behavior and cognitive disabilities are highlighted.
PubMed: 29167722
DOI: 10.18869/nirp.bcn.8.5.349