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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 -
Deutsches Arzteblatt International Feb 2023The negative effect of autism spectrum disorders (ASD) persists into adulthood, with impacts on social interactions and occupational development. This article reviews... (Review)
Review
BACKGROUND
The negative effect of autism spectrum disorders (ASD) persists into adulthood, with impacts on social interactions and occupational development. This article reviews the current status of clinical aspects of ASD in adulthood on the basis of ICD-11.
METHODS
A selective search of PubMed and other relevant publications on ASD focused on changes in ICD-11 and on prevalence, symptoms, diagnosis, treatment, and prognosis.
RESULTS
The global lifetime prevalence of ASD is around 1%. A number of recent studies have concentrated on behaviors termed "camouflaging" (disguising symptoms typical of autism) and "stimming" (use of repetitive self-stimulation), which affect the mental health of those concerned. Standardized diagnostic instruments are available, but the data on validity in adulthood and on applicability are limited. Gestures, eye contact, facial expressions, social closeness, and reciprocity play particularly important roles in diagnosis. German-language treatment manuals lack randomized controlled studies: a validated treatment strategy is currently available only in English. Investigation of the prognosis showed limitation of occupational perspectives (54% unemployment in the study sample) and 2.9 times higher mortality compared to the general population.
CONCLUSION
Individual treatment goals should be set, taking account of any coexisting psychiatric disorders. The process of diagnosis remains clinical, using standardized instruments. Further improvement of diagnostic and therapeutic instruments for adult ASD is desirable.
Topics: Adult; Humans; Autism Spectrum Disorder; Prognosis; International Classification of Diseases; Prevalence
PubMed: 36507695
DOI: 10.3238/arztebl.m2022.0379 -
Medicina Feb 2022Autism or ASDs are neurodevelopmental disorders that affect socio-communicative development, interests, and a restricted and stereotyped pattern of interests and...
INTRODUCTION
Autism or ASDs are neurodevelopmental disorders that affect socio-communicative development, interests, and a restricted and stereotyped pattern of interests and behavior. Epidemiological studies indicate that there are 3 times more boys affected with autism than girls but clinical studies indicate a much higher preponderance in favor of boys. There is an under detection of autism with a late or wrong diagnosis more frequently in girls and women with autism.
OBJECTIVE
To analyze the clinical presentation of autism in girls and women, factors related to under detection and diagnosis or diagnostic confusion, and mechanisms for improving its diagnosis and intervention.
MATERIAL AND METHODS
We will analyze the differences in the clinical presentation of autism between genders, social and cultural factors, cognitive aspects and differential comorbidities in boys and girls with autism, current limitations of diagnostic instruments for the evaluation of autism and which are aspects to improve for a better identification, earlier and more accurate of autism in the female gender.
CONCLUSIONS
Autism in the female gender presents differential clinical, cognitive and biological characteristics associated with under detection and late diagnosis.
Topics: Autism Spectrum Disorder; Autistic Disorder; Female; Humans; Male; Sex Factors
PubMed: 35171806
DOI: No ID Found -
Advances in Neurobiology 2020Autism has been increasing dramatically since its description by Leo Kanner in 1943. The Centers for Disease Control and Prevention (CDC) in 2018 has identified 1 in 59... (Meta-Analysis)
Meta-Analysis
Autism has been increasing dramatically since its description by Leo Kanner in 1943. The Centers for Disease Control and Prevention (CDC) in 2018 has identified 1 in 59 children (1 in 37 boys and 1 in 151 girls) has autism spectrum disorder (ASD). Autistic spectrum disorders and ADHD are complex conditions in which nutritional and environmental factors play major roles. It is important to understand how food can have an impact on their current and future health. Appealing food colors stimulate the consumption of different food products. Since 2011, it is evident that dyes are linked to harmful effects in children. Artificial dyes have neurotoxic chemicals that aggravate mental health problems. Many families with autistic children avoid food dyes in their diet in order to avoid behavioral issues. A study reported that there is a correlation between yellow dye and sleep disturbance. Food colors Blue 1 and 2, Green 3, Red 3, Yellow 5 and 6, Citrus Red 2, and Red 40 can trigger many behaviors in most kids. Artificial food color usually contains petroleum and is manufactured in a chemical process that includes formaldehyde, aniline, hydroxides, and sulfuric acids. Most impurities in the food color are in the form of salts or acids. Sometimes lead, arsenic, and mercury may be present as impurities. The U.S. FDA is yet to study the effects of synthetic dyes on behavior in children. A study conducted at Southampton University in England found a link between food dyes and hyperactive behavior in children. The research does not prove that food coloring actually causes autism spectrum disorder, but there seems to be a link. This chapter attempts to provide a broad review of the available literature on food color and the epidemiology, etiology, prevention, and treatment of autistic spectrum disorder.
Topics: Attention Deficit Disorder with Hyperactivity; Autism Spectrum Disorder; Child; Diet; Female; Food Coloring Agents; Humans; Male
PubMed: 32006369
DOI: 10.1007/978-3-030-30402-7_15 -
Revista Chilena de Pediatria Oct 2019Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that affects the social commu nication and behavior areas. Its symptomatology display heterogeneity and... (Review)
Review
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that affects the social commu nication and behavior areas. Its symptomatology display heterogeneity and a wide range of functio nality levels in each child. In the last decade, significant advances have been made in the early detec tion of risk signs, favoring early diagnosis. This has allowed access to interventions that capitalize neuroplasticity of this stage of development, raising the possibility of mitigating the full manifesta tion of the disorder. The objective of this update is to review early diagnostic tools and early inter vention models and to analyze how to implement evidence-based interventions in a health context in a country like Chile.
Topics: Autism Spectrum Disorder; Child; Chile; Early Diagnosis; Humans; Neuronal Plasticity
PubMed: 31859730
DOI: 10.32641/rchped.v90i5.1294 -
Zeitschrift Fur Kinder- Und... Jul 2023Pathological Demand Avoidance: Current State of Research and Critical Discussion Pathological demand avoidance (PDA) describes children who obsessively avoid any demand... (Review)
Review
Pathological Demand Avoidance: Current State of Research and Critical Discussion Pathological demand avoidance (PDA) describes children who obsessively avoid any demand to a clinically relevant extent and is presently the subject of controversial discussion. Their behavior may be interpreted as an attempt to reduce anxiety by establishing security and predictability through rigid control of the environment as well as the demands and expectations of others. The symptoms are described in the context of autism spectrum disorder. This article reviews the current state of research and discusses the questionable validity of pathological demand avoidance as an independent diagnostic entity. It also addresses the impact of the behavior profile on development and treatment. This paper concludes that PDA is not a diagnostic entity nor a subtype of autism; rather, it is a behavior profile that can be associated with adverse illness progression and unfavorable outcomes. PDA is one feature in a complex model. We must consider not only the patient's characteristics but also those of the caregiver and their psychopathology. The reactions of the interaction partners as well as the treatment decisions play a key role play for the affected individuals. Substantial research is needed concerning the occurrence of the behavior profile PDA in diverse disorders, treatment options, and treatment responses.
Topics: Child; Humans; Autism Spectrum Disorder; Child Development Disorders, Pervasive; Child Behavior Disorders; Anxiety; Autistic Disorder
PubMed: 36892327
DOI: 10.1024/1422-4917/a000927 -
L'Encephale Nov 2019Current developments in international public health are leading qualified authorities to release clinical practice guidelines for Autism Spectrum Disorders (ASD)... (Review)
Review
INTRODUCTION
Current developments in international public health are leading qualified authorities to release clinical practice guidelines for Autism Spectrum Disorders (ASD) assessment and diagnosis. Such documents incorporate procedures that rely on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) which are considered to be the "gold standard" assessment measures in the evaluation of ASD. Although these tools do prove their effectiveness in the evaluation of autistic symptomatology, they nevertheless stumble whenever the situation becomes more complex and reveal differential diagnostic issues in infantile and adult autism cases. This differential diagnostic issue remains significant in the clinical practice of daily life and has strong implications for the course of therapeutic treatment.
OBJECTIVES
Our objective is to underline and nuance the metrological qualities of the ADI-R and the ADOS in the differential diagnosis of autistic disorders by presenting a synthesis of recent studies, thus supporting the interest of maintaining an open debate on diagnostic practices.
METHODS
Our selective review of the recent literature focuses on studies that confront the ADI-R and the ADOS - used either independently or in a combination - with various differential issues in adulthood and childhood autism in order to highlight their qualities and limits.
RESULTS
The ADI-R is a semi-structured interview applied by trained examiners and applied to relatives and/or caregivers who collect developmental information about the patient's first years of life on a variety of behaviors and skills. It is therefore relatively dependent on the availability and personal bias of the interviewed third parties. Metric features highlighted by the reviewed studies straightforwardly reveal a certain effectiveness of the tool and a good discrimination of childhood disorders. At the same time, the tool's discriminatory capacity seems insufficient when applied to toddlers, very young children, and adults alike. The latter seems particularly true when it comes to differentiating between autistic and schizophrenic spectrum disorders. The ADOS is a semi-structured standardized observation assessment tool that has experienced several successive developments, such as optimizations concerning the sensitivity of its cutoffs. Many works have contributed to building such a tool with reliable and solid metric qualities which nevertheless retain important biases such as the subjectivity of the caregiver or the evaluator during the scoring process. For assessments of autistic children the tool still has a good diagnostic validity but seems to retain cases of incorrect diagnosis of ASD (false positives). In other words, disorders or developmental disabilities of some children and adolescents could not be distinguished from ASD when relying on this test alone. The ADOS Module 4, designed for the diagnosis of adolescents and adults with fluent speech, has undergone less updating. This revisited algorithm has metrological qualities useful for clinicians and remains one of the few available tools for this population. Unfortunately, its diagnostic accuracy is lower when applied to women, the elderly, people with personality disorders or higher intellectual abilities, or for the discrimination between ASD and schizophrenia. Overall, scores from these two instruments bring strong evidence of their usefulness in the diagnostic process of ASD, provided that they are used with caution and a critical clinical perspective, and only as a secondary technical support. Their use in combination is effective since they are complementary and compensate for each other's limitations. However, their globalized hegemony as "gold-standard" tools constitutes a setback insofar as it constrains the diagnosis of ASD to a set of stereotyped items. The latter in turn sets a normative model of autism that excludes other phenotypic forms, especially in the case of women and the elderly. Finally, the discrimination between autism and psychosis for children seems to remain an insoluble task even for the ADI-R/ADOS combination.
CONCLUSIONS
The problematics of differential diagnosis remain critical for clinical approaches to autism. Therefore, formalizations of the diagnostic procedures must be able to remain open-minded and accompanied by a creative clinical approach, especially in the case of complex situations that are not soluble by means of conventional diagnostic tools. One possibility may lie in the deepening of the phenomenological approach to autism as an attempt to model the subjective phenomena of autistic subjects and thus operationalize elements that serve the diagnostic process. In the same way, a psychodynamic epistemology could help clinicians to go beyond the consideration of observable behaviors and scores, introducing a psychoanalytic point of view that interfaces objective behaviors with the individual's dynamic intrapsychic functioning. This project could be articulated with projective methodologies - notably the Rorschach test - which respects the needs for standardization and quantification of conventionally used diagnostic tools.
Topics: Adult; Autism Spectrum Disorder; Child; Diagnosis, Differential; France; Humans; Prognosis; Psychological Tests; Psychometrics; Reproducibility of Results
PubMed: 31495549
DOI: 10.1016/j.encep.2019.07.002 -
Pharmacological Reports : PR Oct 2021The term "Autism spectrum disorder" (ASD), in vogue at present, has evolved after continual substantial developments taking place over more than a century. ASD is a... (Review)
Review
The term "Autism spectrum disorder" (ASD), in vogue at present, has evolved after continual substantial developments taking place over more than a century. ASD is a heterogeneous, multi-factorial, developmental disability in which an unusual pattern of development takes place during infant and toddler years. As per DSM-5, Autism spectrum disorder is a combined phrase for a family of complex developmental disabilities inclusive of "Autistic Disorder, Pervasive Developmental Disorder not Otherwise Specified (PDD-NOS), and Asperger's Disorder". "ASD is characterized not only by persistent impairments in reciprocal social communication and social interactions, but is also manifested by restricted, repetitive patterns of behavior, interests, or activities". The classical clinical signs that exist in two major domains, viz. the 'social domain' and the 'behavioral domain' for the precise diagnosis of ASD have been tabulated and major differences between DSM-5 and DSM-4 are depicted with the help of a figure in this basic review article. A sharp rise in the incidence of ASD cases has been observed worldwide owing to various risk factors such as genetic predisposition coupled with adverse environmental conditions, gynecological interventions, etc. Two official manuals viz. the "Diagnostic and Statistical Manual of Mental Disorders" (DSM) (published by the American Psychiatric Association), and the "International Classification of Diseases" (ICD) (published by the World Health Organization) is being regularly updated to facilitate diagnosis of ASD. ICD-11 guidelines being prospectively implemented with effect from January 2022 have attracted global attention.
Topics: Autism Spectrum Disorder; Female; Humans; Male; Risk Factors; Sex Factors
PubMed: 33694100
DOI: 10.1007/s43440-021-00244-0 -
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 -
British Journal of Anaesthesia Apr 2023A recent laboratory study in the Journal examined the effects of repeated exposures of neonatal mice to fentanyl on autism-like behaviour via opioid receptor-mediated...
A recent laboratory study in the Journal examined the effects of repeated exposures of neonatal mice to fentanyl on autism-like behaviour via opioid receptor-mediated DNA hypermethylation of the Grin2B gene, which encodes the GluN2B subunit of the NMDA receptor. These experiments provide mechanisms and biological plausibility but do not directly demonstrate that opioid exposure in early life induces autism spectrum disorder in humans. Experimental modelling of human neuropsychiatric disorders is extremely challenging since most subjective psychiatric symptoms used to establish diagnosis in humans cannot be convincingly ascertained in laboratory rodents. While some human epidemiological data show associations between repeated exposures to opioids during early life, it remains undetermined whether opioid exposure is an independent risk factor for developing autism spectrum disorder in the young.
Topics: Humans; Mice; Animals; Analgesics, Opioid; Autism Spectrum Disorder; Fentanyl; DNA Methylation
PubMed: 36754706
DOI: 10.1016/j.bja.2023.01.003