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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 -
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 -
Nature Jul 2023Many cephalopods escape detection using camouflage. This behaviour relies on a visual assessment of the surroundings, on an interpretation of visual-texture statistics...
Many cephalopods escape detection using camouflage. This behaviour relies on a visual assessment of the surroundings, on an interpretation of visual-texture statistics and on matching these statistics using millions of skin chromatophores that are controlled by motoneurons located in the brain. Analysis of cuttlefish images proposed that camouflage patterns are low dimensional and categorizable into three pattern classes, built from a small repertoire of components. Behavioural experiments also indicated that, although camouflage requires vision, its execution does not require feedback, suggesting that motion within skin-pattern space is stereotyped and lacks the possibility of correction. Here, using quantitative methods, we studied camouflage in the cuttlefish Sepia officinalis as behavioural motion towards background matching in skin-pattern space. An analysis of hundreds of thousands of images over natural and artificial backgrounds revealed that the space of skin patterns is high-dimensional and that pattern matching is not stereotyped-each search meanders through skin-pattern space, decelerating and accelerating repeatedly before stabilizing. Chromatophores could be grouped into pattern components on the basis of their covariation during camouflaging. These components varied in shapes and sizes, and overlay one another. However, their identities varied even across transitions between identical skin-pattern pairs, indicating flexibility of implementation and absence of stereotypy. Components could also be differentiated by their sensitivity to spatial frequency. Finally, we compared camouflage to blanching, a skin-lightening reaction to threatening stimuli. Pattern motion during blanching was direct and fast, consistent with open-loop motion in low-dimensional pattern space, in contrast to that observed during camouflage.
Topics: Animals; Behavior, Animal; Sepia; Skin Pigmentation; Environment
PubMed: 37380772
DOI: 10.1038/s41586-023-06259-2 -
Proceedings of the National Academy of... Aug 2023The generation of appropriate behavioral responses involves dedicated neuronal circuits. The cortico-striatal-thalamo-cortical loop is especially important for the...
The generation of appropriate behavioral responses involves dedicated neuronal circuits. The cortico-striatal-thalamo-cortical loop is especially important for the expression of motor routines and habits. Defects in this circuitry are closely linked to obsessive stereotypic behaviors, hallmarks of neuropsychiatric diseases including autism spectrum disorders (ASDs) and obsessive-compulsive disorders (OCDs). However, our knowledge of the essential synaptic machinery required to maintain balanced neurotransmission and plasticity within the cortico-striatal circuitry remains fragmentary. Mutations in the large synaptic scaffold protein intersectin1 (ITSN1) have been identified in patients presenting with ASD symptoms including stereotypic behaviors, although a causal relationship between stereotypic behavior and intersectin function has not been established. We report here that deletion of the two closely related proteins ITSN1 and ITSN2 leads to severe ASD/OCD-like behavioral alterations and defective cortico-striatal neurotransmission in knockout (KO) mice. Cortico-striatal function was compromised at multiple levels in ITSN1/2-depleted animals. Morphological analyses showed that the striatum of intersectin KO mice is decreased in size. Striatal neurons exhibit reduced complexity and an underdeveloped dendritic spine architecture. These morphological abnormalities correlate with defects in cortico-striatal neurotransmission and plasticity as well as reduced N-methyl-D-aspartate (NMDA) receptor currents as a consequence of postsynaptic NMDA receptor depletion. Our findings unravel a physiological role of intersectin in cortico-striatal neurotransmission to counteract ASD/OCD. Moreover, we delineate a molecular pathomechanism for the neuropsychiatric symptoms of patients carrying intersectin mutations that correlates with the observation that NMDA receptor dysfunction is a recurrent feature in the development of ASD/OCD-like symptoms.
Topics: Animals; Mice; Receptors, N-Methyl-D-Aspartate; Compulsive Behavior; Synaptic Transmission; Mice, Knockout
PubMed: 37603735
DOI: 10.1073/pnas.2304323120 -
Cureus Sep 2023Autism spectrum disorder is made up of several disorders, which include autism, Asperger syndrome, and pervasive developmental disorder. Boys are four times more likely... (Review)
Review
Autism spectrum disorder is made up of several disorders, which include autism, Asperger syndrome, and pervasive developmental disorder. Boys are four times more likely to be diagnosed than girls with autism spectrum disorder, and symptoms usually become apparent by the age of three. Autism spectrum disorders' core characteristic features are abnormal interaction, impairment in communication, and stereotyped behaviors with restricted activities and interests. There are also non-core features associated with autism spectrum disorder, and these are aggression, self-injurious behavior, and tantrums. To date, there is no one drug approved to treat the core symptoms of autism spectrum disorder, but antipsychotic drugs such as risperidone have been shown to be effective at treating both core and non-core symptoms in controlled trials using multiple behavioral rating scales such as the Aberrant Behavioral Checklist subscale, the Clinical Global Impression Improvement Scale, the Ritvo-Freeman Real Life Scale, the Children's Yale-Brown Obsessive Compulsive Scale, the Vineland Adaptive Behavior Scale, and the Social Withdrawal Subscale. The safety, efficacy, acceptability, and tolerability of risperidone were assessed in these studies, and weight gain was a common side effect observed, but the outcome was usually mild and self-limiting. The effect of risperidone on cognition was explored in this article. The studies selected for this article were of small sample size and short duration, which presented limitations for treatment with risperidone and an area that needs to be explored further for its contribution to clinical practice.
PubMed: 37731686
DOI: 10.7759/cureus.45524