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Medicina Sep 2023Autism is a neurodevelopmental disorder characterized by deficits in social cognition and communication, restricted interests, and stereotyped behaviors. Frequently... (Review)
Review
Autism is a neurodevelopmental disorder characterized by deficits in social cognition and communication, restricted interests, and stereotyped behaviors. Frequently associated with sensory dysfunction, other neurodevelopmental disorders, neuropsychiatric disorders, epilepsy and/or sleep disorders. This condition will accompany people throughout their lives, which will generate various support and treatment needs. Although there are no drugs that modify the core symptoms of autism, various drugs have shown their usefulness in associated conditions. Atypical antipsychotics for hyperactivity, impulsivity, agitation, auto or heteroaggression crises. Serotonin reuptake inhibitors, to decrease anxiety, obsessive-compulsive symptoms, and irritability/agitation. Stimulants and atomoxetine used for hyperactivity, inattention, and impulsivity. Clonidine and guanfacine show some efficacy on hyperactivity and stereotyped behaviors. Buspirone has been used for restrictive behaviors and anxiety. There are drugs in the research phase such as oxytocin, vasopressin and even some developed for specific entities related to autism such as arbaclofen in Fragile X and Trofinetide that has just been approved for use in Rett syndrome. As specific entities and their pathophysiology are identified, it is likely that tailored treatments will be developed for each entity associated with autism..
Topics: Humans; Autistic Disorder; Stereotyped Behavior; Anxiety; Anxiety Disorders; Autism Spectrum Disorder
PubMed: 37714122
DOI: No ID Found -
Autism : the International Journal of... Nov 2023The way autism is represented in fictional media can impact people's views of autistic people. For example, representations may contribute to negative views of autistic... (Review)
Review
The way autism is represented in fictional media can impact people's views of autistic people. For example, representations may contribute to negative views of autistic people as being unusual or dangerous, or they may challenge stereotypes and instead highlight the strengths of autistic people. This work aimed to review previous research to understand how autistic people have been represented in fictional media (Part A). It also sought to understand whether viewing fictional portrayals of autism has an impact on people's knowledge of autism and attitudes towards autistic people (Part B). Of 14 studies that were included in Part A, several unhelpful and stereotypical portrayals of autism emerged. Positive portrayals were those that highlighted the strengths of autistic people and reflected nuance. There is a need for greater diversity in representation of autism in fictional media. For example, not all autistic people are white heterosexual males. Across the five studies included in Part B, there were no improvements in people's knowledge of autism after watching or reading a short segment from a fictional TV series or novel that depicts an autistic person. Although there was a significant improvement in people's attitudes towards autistic people, these findings do not provide a complete picture given the short length of the media exposure and small number of studies. Future studies should investigate how multiple exposures to the representation of autistic people in both fictional and non-fictional sources can affect people's understanding of autism. There is also a need to develop more accurate and respectful ways of measuring people's knowledge of, and attitudes towards, autism.
Topics: Male; Humans; Autistic Disorder; Autism Spectrum Disorder; Stereotyped Behavior; Respect; Stereotypic Movement Disorder
PubMed: 36802826
DOI: 10.1177/13623613231155770 -
Medicina Mar 2024Autism is a neurobiologically based neurodevelopmental disorder with high prevalence and a clear predominance in males. It is characterized by deficits in social...
Autism is a neurobiologically based neurodevelopmental disorder with high prevalence and a clear predominance in males. It is characterized by deficits in social cognition and communication, restricted interests, and stereotyped behaviors, frequently associated with sensory dysfunction others neurodevelopmental conditions, neuropsychiatric disorders, epilepsy, and/or sleep disorders. This condition will accompany people throughout their lives, which will generate various support and treatment needs. People with autism often need to "fit in" and for this they use techniques such as camouflage, also called masking. This attitude has been observed in people with typical development and in people with autism in childhood, adolescence and adult life, although in autistic people this behavior is more intense and takes longer and with more frequency and intensity in autistic adult women. This could explain the underreporting of autism, the later diagnosis, the delay in the therapeutic approach, and the greater presence of anxiety and depression disorders related to the effort that "appearing normal" implies. Even though camouflage people appear to be "normal" and fit in perfectly, this is not an attitude that we should promote and, on the contrary, it is imperativeto work to improve the environment and the understanding of each person. In this paper we will analyze the clinical aspects, their relationship with age, sex, and ways of detecting it.
Topics: Male; Adult; Adolescent; Humans; Female; Autistic Disorder; Stereotyped Behavior; Communication; Anxiety Disorders; Anxiety
PubMed: 38350623
DOI: No ID Found -
Movement Disorders Clinical Practice Jul 2023Punding is a stereotyped behavior characterized by an intense fascination with a complex, excessive, non-goal oriented, repetitive activity affecting individuals with... (Review)
Review
BACKGROUND
Punding is a stereotyped behavior characterized by an intense fascination with a complex, excessive, non-goal oriented, repetitive activity affecting individuals with Parkinson's disease (PD) on dopamine replacement therapy (DRT).
OBJECTIVES
In 2010, we published the first review focused on the pathophysiology of punding. This study aims to systematically review the literature of the past decade on punding in PD, particularly focusing on the clinical features, underlying pathophysiological mechanisms, and treatment.
METHODS
Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, we searched PubMed, Embase, and APA PsycInfo for articles published between July 1, 2010 and March 19, 2022. The search strategy included: (punding) AND (parkinson*).
RESULTS
Of 256 studies identified, 29 were eligible for inclusion with 19 original research articles and 10 case reports. This review confirmed that predictors of punding in PD are higher doses of DRT, younger age, male sex, and increasing disease severity. We also found an association between punding and psychiatric and/or cognitive symptoms. Neuroimaging studies have showed that punding in PD is associated with a disconnection between midbrain, limbic and white matter tracts projecting to the frontal cortices and a breakdown of the connectivity among the crucial nodes of the reward circuit. Low-frequency repetitive transcranial magnetic stimulation on the dorsolateral prefrontal cortex has been shown to produce a transient beneficial effect in PD patients with punding.
CONCLUSION
In conclusion, although the clinical features of punding have been established, in the past 12 years, we gained a better understanding of the pathophysiological mechanisms of punding, mainly thanks to magnetic resonance imaging techniques.
PubMed: 37476310
DOI: 10.1002/mdc3.13748 -
Frontiers in Cellular Neuroscience 2023Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with increasing prevalence. Over 1,000 risk genes have now been implicated in ASD, suggesting... (Review)
Review
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with increasing prevalence. Over 1,000 risk genes have now been implicated in ASD, suggesting diverse etiology. However, the diagnostic criteria for the disorder still comprise two major behavioral domains - deficits in social communication and interaction, and the presence of restricted and repetitive patterns of behavior (RRBs). The RRBs associated with ASD include both stereotyped repetitive movements and other motor manifestations including changes in gait, balance, coordination, and motor skill learning. In recent years, the striatum, the primary input center of the basal ganglia, has been implicated in these ASD-associated motor behaviors, due to the striatum's role in action selection, motor learning, and habit formation. Numerous mouse models with mutations in ASD risk genes have been developed and shown to have alterations in ASD-relevant behaviors. One commonly used assay, the accelerating rotarod, allows for assessment of both basic motor coordination and motor skill learning. In this corticostriatal-dependent task, mice walk on a rotating rod that gradually increases in speed. In the extended version of this task, mice engage striatal-dependent learning mechanisms to optimize their motor routine and stay on the rod for longer periods. This review summarizes the findings of studies examining rotarod performance across a range of ASD mouse models, and the resulting implications for the involvement of striatal circuits in ASD-related motor behaviors. While performance in this task is not uniform across mouse models, there is a cohort of models that show increased rotarod performance. A growing number of studies suggest that this increased propensity to learn a fixed motor routine may reflect a common enhancement of corticostriatal drive across a subset of mice with mutations in ASD-risk genes.
PubMed: 38026686
DOI: 10.3389/fncel.2023.1270489 -
Medicina (Kaunas, Lithuania) Aug 2023Autism spectrum disorder (ASD) is a developmental disorder that causes difficulty while socializing and communicating and the performance of stereotyped behavior. ASD is... (Review)
Review
Autism spectrum disorder (ASD) is a developmental disorder that causes difficulty while socializing and communicating and the performance of stereotyped behavior. ASD is thought to have a variety of causes when accompanied by genetic disorders and environmental variables together, resulting in abnormalities in the brain. A steep rise in ASD has been seen regardless of the numerous behavioral and pharmaceutical therapeutic techniques. Therefore, using complementary and alternative therapies to treat autism could be very significant. Thus, this review is completely focused on non-pharmacological therapeutic interventions which include different diets, supplements, antioxidants, hormones, vitamins and minerals to manage ASD. Additionally, we also focus on complementary and alternative medicine (CAM) therapies, herbal remedies, camel milk and cannabiodiol. Additionally, we concentrate on how palatable phytonutrients provide a fresh glimmer of hope in this situation. Moreover, in addition to phytochemicals/nutraceuticals, it also focuses on various microbiomes, i.e., gut, oral, and vaginal. Therefore, the current comprehensive review opens a new avenue for managing autistic patients through non-pharmacological intervention.
Topics: Female; Humans; Autism Spectrum Disorder; Autistic Disorder; Vitamins; Antioxidants; Brain
PubMed: 37763703
DOI: 10.3390/medicina59091584 -
Cold Spring Harbor Protocols Jul 2023Courtship behaviors in are innate and contain highly stereotyped but also experience- and state-dependent elements. They have been the subject of intense study for more...
Courtship behaviors in are innate and contain highly stereotyped but also experience- and state-dependent elements. They have been the subject of intense study for more than 100 years. The power of as a genetic experimental system has allowed the dissection of reproductive behaviors at a molecular, cellular, and physiological level. As a result, we know a great deal about how flies perceive sensory cues from potential mates, how this information is integrated in higher brain centers to execute reproductive decisions, and how state and social contexts modulate these responses. The simplicity of the assay has allowed for its broad application. Here, we introduce methods for studying male and female innate reproductive behaviors as well as their plastic responses.
Topics: Animals; Male; Female; Drosophila; Drosophila melanogaster; Sexual Behavior, Animal; Courtship; Drosophila Proteins
PubMed: 36781213
DOI: 10.1101/pdb.top107866 -
World Journal of Pediatrics : WJP Aug 2023Neurodevelopmental disorders are a heterogeneous group of conditions that manifest as delays or deviations in the acquisition of expected developmental milestones and... (Review)
Review
BACKGROUND
Neurodevelopmental disorders are a heterogeneous group of conditions that manifest as delays or deviations in the acquisition of expected developmental milestones and behavioral changes. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication and social interaction and by repetitive and restricted patterns of behavior, interests and activities. The aim of this review is to discuss the clinical features of the differential diagnoses of ASD that are prevalent among preschoolers, focusing on their similarities and disparities.
DATA SOURCES
The international medical literature search was conducted using PubMed and was revised regarding the subject using single and/or combined keywords as follows: differential diagnosis, preschoolers, diagnostic challenge, attention deficit hyperactivity disorder, intellectual disability, high abilities/giftedness, childhood apraxia of speech, social communication disorder, Landau-Kleffner syndrome, stereotyped movement disorder and excessive screen time.
RESULTS
We describe conditions commonly found in clinical practice, taking ASD as a reference. We addressed converging and divergent aspects of behavior, cognition, communication, language, speech, socialization, and stereotypes for the diagnosis of ASD and other disorders identified as potential differential or comorbid diagnoses.
CONCLUSIONS
The ranking and characterization of symptoms appear to be essential for better understanding the underlying common ground between children with developmental disorders and children with ASD, thus properly diagnosing and directing social, professional, or medication interventions. This detailed discussion adds to the literature since, although ASD differential diagnoses are frequently mentioned and discussed in textbooks and journal articles, they rarely occupy a prominent place as we aimed herein.
Topics: Child; Child, Preschool; Humans; Autism Spectrum Disorder; Diagnosis, Differential; Developmental Disabilities; Comorbidity; Cognition
PubMed: 36282408
DOI: 10.1007/s12519-022-00629-y -
Gene Dec 2023Autism spectrum disorder (ASD) is neurodevelopmental disorder characterized by stereotyped behavior and deficits in communication and social interactions. To date,... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Autism spectrum disorder (ASD) is neurodevelopmental disorder characterized by stereotyped behavior and deficits in communication and social interactions. To date, numerous studies have investigated the associations between genetic variants and ASD risk. However, the results of these published studies lack a clear consensus. In the present study, we performed a systematic review on the association between genetic variants and ASD risk. Meanwhile, we conducted a meta-analysis on available data to identify the association between the single nucleotide polymorphisms (SNPs) of candidate genes and ASD risk.
METHODS
We systematically searched public databases including English and Chinese from their inception to August 1, 2022. Two independent reviewers extracted data and assessed study quality. Odds ratio and 95 % confidence interval were used as effect indexes to evaluate the association between the SNPs of candidate genes and the risk of ASD. Heterogeneity was explored through subgroup, sensitivity, and meta-regression analyses. Publication bias was assessed by using Egger's and Begg's tests for funnel plot asymmetry. In addition, TSA analysis were performed to confirm the study findings.
RESULTS
We summarized 84 SNPs of 32 candidate genes from 81 articles included in the study. Subsequently, we analyzed 16 SNPs of eight genes by calculating pooled ORs, and identified eight significant SNPs of contactin associated protein 2 (CNTNAP2), methylentetrahydrofolate reductase (MTHFR), oxytocin receptor (OXTR), and vitamin D receptor (VDR). Results showed that seven SNPs, including the CNTNAP2 rs2710102 (homozygote, heterozygote, dominant and allelic models) and rs7794745 (heterozygote and dominant models), MTHFR C677T (homozygote, heterozygote, dominant, recessive and allelic models) and A1298C (dominant and allelic models), OXTR rs2254298 (homozygote and recessive models), VDR rs731236 (homozygote, dominant, recessive and allelic models) and rs2228570 (homozygote and recessive models), were showed to be correlated with an increased ASD risk. By contrast, the VDR rs7975232 was correlated with a decreased the risk of ASD under the homozygote and allelic models.
CONCLUSION
Our study summarized research evidence on the genetic variants of ASD and provides a broad and detailed overview of ASD risk genes. The C677T and A1298C polymorphisms of MTHFR, rs2710102 and rs7794745 polymorphisms of CNTNAP2, rs2254298 polymorphism of OXTR, and rs731236 and rs2228570 polymorphisms of VDR were genetic risk factors. The rs7975232 polymorphism of VDR was a genetic protective factor for ASD. Our study provides novel clues to clinicians and healthcare decision-makers to predict ASD susceptibility.
Topics: Humans; Autism Spectrum Disorder; Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Alleles; Heterozygote; Methylenetetrahydrofolate Reductase (NADPH2)
PubMed: 37598788
DOI: 10.1016/j.gene.2023.147723 -
Journal of Neurology Oct 2023Historically, periodic EEG patterns were described as any pattern with stereotyped paroxysmal complexes occurring at regular intervals, i.e., the period (T). T is the... (Review)
Review
Historically, periodic EEG patterns were described as any pattern with stereotyped paroxysmal complexes occurring at regular intervals, i.e., the period (T). T is the sum of the duration of the waveform (t1) and, eventually, the duration of the interval between two consecutive waves (t2). The American Clinical Neurophysiology Society introduced the concept of a clearly discernible inter-discharge interval between consecutive waveforms (i.e., t2). As this definition was not applied to what have previously been termed triphasic waves and in some cases of lateralized periodic discharges, we propose reconsideration of terminology that includes historical use of definitions. This will allow the development and usage of the concept for periodic EEG patterns as any runs of stereotyped paroxysmal waveforms separated by nearly identical intervals and prolonged repetitive complexes on the EEG. Prolonged expression means EEG is recorded for a sufficient period of time to prove that the pattern is repetitive, thus resulting in a monomorphic/monotonous pattern. More important than the inter-discharge interval (t2), periodic EEG patterns occur at time regular intervals (T). As a result, periodic EEG activity should be considered along a continuum and not the opposite of rhythmic EEG activity where no interval activity exists between consecutive waveforms.
Topics: Humans; Electroencephalography; Causality; Periodicity; Intensive Care Units; Status Epilepticus
PubMed: 37393201
DOI: 10.1007/s00415-023-11835-7