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Comprehensive Psychoneuroendocrinology Nov 2023Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by stereotyped behavior, restricted interests and social/communicative deficits. The...
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by stereotyped behavior, restricted interests and social/communicative deficits. The physiological etiology of ASD is not currently understood, however recent research has implicated dysregulation of the immune system as a central feature. The interplay between the stress systems, the immune system and the brain has been well-documented and implicated in other psychiatric and neurological disorders. This interplay suggests a role for the hypothalamic-pituitary-adrenal (HPA) axis in the etiology of ASD. We assessed levels of urinary cortisol and neopterin as markers of immune function and HPA activation in a cohort of 50 children from the central Johannesburg region. Additionally, we used the Autism Treatment Evaluation Checklist to assess autistic symptomatology and the Bruininks-Oseretsky Motor Proficiency Test (Second Edition) (BOT-2) to assess motor skills. No relationships were found between cortisol and autistic symptomatology. No relationships were found between neopterin and any of the other measures. However, a relationship was observed between urinary cortisol and performance on balance-related tasks from the BOT-2 (P < 0.05). Our findings support a theory of neurological interconnectedness between postural modulation and activation of the stress system, which has not previously been documented in children with ASD.
PubMed: 38023738
DOI: 10.1016/j.cpnec.2023.100216 -
Pharmacopsychiatry Jan 2024Electroconvulsive therapy (ECT) is known to be effective in the treatment of catatonia, reaching response rates of about 80 to 100%. It is indicated in cases of...
INTRODUCTION
Electroconvulsive therapy (ECT) is known to be effective in the treatment of catatonia, reaching response rates of about 80 to 100%. It is indicated in cases of treatment resistance to benzodiazepines and in life-threatening conditions such as malignant catatonia. Beneficial effects on specific symptoms or predictors of response are less clear. The objective of this retrospective study is to examine the ECT effect on specific catatonia symptoms in the acute phase of the illness and to identify predictors of response.
METHODS
A retrospective study examined data from 20 patients with catatonia, 18 associated with schizophrenia and 2 with bipolar disorder, who underwent ECT from 2008 to 2021. Ten subjects had more than one ECT-series, resulting in a total of 31 ECT-series. Catatonia symptom severity was assessed with the Bush Francis Catatonia Rating Scale (BFCRS).
RESULTS
ECT yielded excellent response. Nineteen of 20 patients and 30 of 31 ECT-series achieved response. The mean number of ECT sessions to response was 4.2. Response to ECT was more pronounced for motor inhibition symptoms such as stupor and mutism, while echophenomena, dyskinesia, stereotypy and perseveration responded less well. A predictor of late response was the presence of grasp reflex.
DISCUSSION
The present study corroborates the high and rapid effectiveness of ECT in the treatment of catatonia. Focus on single catatonia signs may help to identify those who are most likely to achieve remission quickly, as well as those who might need longer ECT-series.
Topics: Humans; Catatonia; Electroconvulsive Therapy; Retrospective Studies; Schizophrenia; Bipolar Disorder
PubMed: 37995719
DOI: 10.1055/a-2195-1499 -
Molecular Autism Nov 2023Fragile X syndrome (FXS) is a leading cause of autism spectrum disorder (ASD) and resulted from a loss of the FMR1-encoded fragile X messenger ribonucleoprotein 1 (FMRP)...
BACKGROUND
Fragile X syndrome (FXS) is a leading cause of autism spectrum disorder (ASD) and resulted from a loss of the FMR1-encoded fragile X messenger ribonucleoprotein 1 (FMRP) protein due to large CGG repeat expansions in the promoter region of the FMR1 gene. The microtubule-associated protein Tau is a promising target for Tauopathic diseases and our preliminary study found that Tau protein levels were increased in the brain of Fmr1 knockout (KO) mice, a model of FXS. However, whether Tau reduction can prevent autism-like features in Fmr1 KO mice and become a novel strategy for FXS treatment remain unknown.
METHODS
Tau was genetically reduced in Fmr1 KO mice through crossing Fmr1 female mice with Mapt male mice. The male offspring with different genotypes were subjected to various autism-related behavioral tests, RNA sequencing, and biochemical analysis. Fmr1 KO male mice were treated with Tau-targeting antisense oligonucleotide (ASO) and then subjected to behavioral tests and biochemical analysis.
RESULTS
Tau expression was increased in the cortex of Fmr1 KO mice. Genetically reducing Tau prevented social defects, stereotyped and repetitive behavior, and spine abnormality in Fmr1 KO mice. Tau reduction also reversed increased periodic activity and partially rescued Per1 expression reduction in Fmr1 KO mice. Moreover, Tau reduction reversed compromised P38/MAPK signaling in Fmr1 KO mice. Finally, Tau-targeting ASO also effectively alleviated autism-like phenotypes and promoted P38/MAPK signaling in Fmr1 KO mice.
LIMITATIONS
Our study is limited to male mice, in agreement with the higher incidence of FXS in males than females. Whether Tau reduction also exerts protection in females deserves further scrutiny. Moreover, although Tau reduction rescues impaired P38/MAPK signaling in Fmr1 KO mice, whether this is the responsible molecular mechanism requires further determination.
CONCLUSION
Our data indicate that Tau reduction prevents autism-like phenotypes in Fmr1 KO mice. Tau may become a new target for FXS treatment.
Topics: Animals; Mice; Male; Female; Mice, Knockout; Autism Spectrum Disorder; Autistic Disorder; tau Proteins; Fragile X Mental Retardation Protein; Fragile X Syndrome; Disease Models, Animal
PubMed: 37936174
DOI: 10.1186/s13229-023-00574-1 -
Physiology & Behavior Jan 2024Wild animals are brought to captivity for different reasons, for example to be kept in zoos and rehabilitation centres, but also for basic research. Such animals usually...
Wild animals are brought to captivity for different reasons, for example to be kept in zoos and rehabilitation centres, but also for basic research. Such animals usually undergo a process of adjustment to captive conditions. While this adjustment occurs on the behavioural and the physiological level, those are usually studied separately. The aim of this study was to assess both the physiological and behavioural responses of wild wood mice, Apodemus sylvaticus, while adjusting to laboratory conditions. Over the course of four weeks, we measured in wild-caught mice brought to the laboratory faecal corticosterone metabolites and body mass as physiological parameters, stereotypic behaviour and nest-quality, as welfare-linked behavioural parameters, and four personality measures as additional behavioural parameters. The results of our study indicate that mice exhibited an adjustment in both behaviour and physiology over time in the laboratory. While the hormonal stress response decreased significantly, body mass and the proportion of stereotypic behaviours showed a tendency to increase over time. The slight increase of stereotypic behaviours, although not statistically significant, suggests the development of repetitive and non-functional behaviours as a response to laboratory conditions. However, we suggest that those behaviours might have been used by animals as a coping strategy to decrease the physiological stress response. Other behavioural parameters measured, such as boldness and nestbuilding behaviour were stable over time. The information obtained in the present study hints at a complex interplay between behavioural and physiological adjustments of wild animals to laboratory conditions, which should be considered when intending to use wild animals in experimental research.
Topics: Animals; Mice; Stereotyped Behavior; Corticosterone; Animals, Wild; Murinae; Personality; Stress, Physiological; Behavior, Animal
PubMed: 37866641
DOI: 10.1016/j.physbeh.2023.114385 -
Scientific Reports Oct 2023Research on deception detection has mainly focused on Simple Deception, in which false information is presented as true. Relatively few studies have examined...
Research on deception detection has mainly focused on Simple Deception, in which false information is presented as true. Relatively few studies have examined Sophisticated Deception, in which true information is presented as false. Because Sophisticated Deception incentivizes the appearance of dishonesty, it provides a window onto stereotypical beliefs about cues to deception. Here, we adapted the popular Joker Game to elicit spontaneous facial expressions under Simple Deception, Sophisticated Deception, and Plain Truth conditions, comparing facial behaviors in static, dynamic nonspeaking, and dynamic speaking presentations. Facial behaviors were analysed via machine learning using the Facial Action Coding System. Facial activations were more intense and longer lasting in the Sophisticated Deception condition than in the Simple Deception and Plain Truth conditions. More facial action units intensified in the static condition than in the dynamic speaking condition. Simple Deception involved leaked facial behaviors of which deceivers were unaware. In contrast, Sophisticated Deception involved deliberately leaked facial cues, including stereotypical cues to lying (e.g., gaze aversion). These stereotypes were inaccurate in the sense that they diverged from cues in the Simple Deception condition-the actual appearance of deception in this task. Our findings show that different modes of deception can be distinguished via facial action analysis. They also show that stereotypical beliefs concerning cues to deception can inform behavior. To facilitate future research on these topics, the multimodal stimuli developed in this study are available free for scientific use.
Topics: Humans; Deception; Cues; Facial Expression; Stereotyped Behavior; Stereotypic Movement Disorder
PubMed: 37789048
DOI: 10.1038/s41598-023-43716-4 -
PloS One 2023Motor stereotypies are common in children with autism spectrum disorder (ASD), intellectual disability, or sensory deprivation, as well as in typically developing...
Motor stereotypies are common in children with autism spectrum disorder (ASD), intellectual disability, or sensory deprivation, as well as in typically developing children ("primary" stereotypies, pCMS). The precise pathophysiological mechanism for motor stereotypies is unknown, although genetic etiologies have been suggested. In this study, we perform whole-exome DNA sequencing in 129 parent-child trios with pCMS and 853 control trios (118 cases and 750 controls after quality control). We report an increased rate of de novo predicted-damaging DNA coding variants in pCMS versus controls, identifying KDM5B as a high-confidence risk gene and estimating 184 genes conferring risk. Genes harboring de novo damaging variants in pCMS probands show significant overlap with those in Tourette syndrome, ASD, and those in ASD probands with high versus low stereotypy scores. An exploratory analysis of these pCMS gene expression patterns finds clustering within the cortex and striatum during early mid-fetal development. Exploratory gene ontology and network analyses highlight functional convergence in calcium ion transport, demethylation, cell signaling, cell cycle and development. Continued sequencing of pCMS trios will identify additional risk genes and provide greater insights into biological mechanisms of stereotypies across diagnostic boundaries.
Topics: Humans; Autism Spectrum Disorder; Tourette Syndrome; DNA; Exome Sequencing; Mutation; Genetic Predisposition to Disease; Nuclear Proteins; Repressor Proteins; Jumonji Domain-Containing Histone Demethylases
PubMed: 37788244
DOI: 10.1371/journal.pone.0291978 -
PloS One 2023There is increasing evidence of compromised welfare for elephants managed in captivity. Should such facilities eventually close, more elephants will need to be...
There is increasing evidence of compromised welfare for elephants managed in captivity. Should such facilities eventually close, more elephants will need to be rehabilitated and reintegrated into the wild. The goal of such reintegration would be to restore any physical or psychological aspects of the elephant that may have been compromised in captivity, followed by introduction into a free-roaming system where they can interact with other elephants. However, to achieve this goal, the reintegration methods implemented need to be assessed to ensure that welfare remains the priority. The objective of this study was to test whether parameters generally associated with stress and disturbance in African elephants, respond to changes in potentially stressful environmental conditions, assessed at multiple temporal scales ranging from minutes to months. The main changes in environmental conditions that were investigated included the different phases of reintegration of a group of elephants from captivity into the wild. Stress and disturbance related parameters used for comparisons included physiological responses, namely the extent of temporal gland secretions (eTGS) and faecal glucocorticoid metabolite (fGCM) levels as well as behavioural responses, namely the display of stereotype and stress-related behaviours. Results showed that eTGS significantly increased during the initial release of the elephants compared to when in captivity. Stereotypic behaviours were only recorded during the captive phase and immediately ceased after release. Faecal GCM levels spiked in the first year after release before decreasing back to pre-reintegration levels during the third year. These findings indicate that fGCM levels, the eTGS and disturbance related behaviours all proved effective in explaining the changes in stress and disturbance experienced by elephants during the initial years after being reintegrated from captivity into the wild.
Topics: Animals; Elephants; Glucocorticoids; Stereotyped Behavior; Feces; Animals, Zoo
PubMed: 37788241
DOI: 10.1371/journal.pone.0291293 -
Medicina (Kaunas, Lithuania) Sep 2023: To analyze the influence of parental presence and use of risperidone on social interaction and apathy among patients with Autism Spectrum Disorder (ASD). :...
: To analyze the influence of parental presence and use of risperidone on social interaction and apathy among patients with Autism Spectrum Disorder (ASD). : Cross-sectional study in a reference center for patients with ASD in a city in northeastern Brazil. The research was carried out using a sociodemographic questionnaire, the Dimensional Apathy Scale, and the Social Communication Questionnaire (SCQ) with the domains of social interaction, language, stereotypy, and communication. The referred questionnaire was answered by the parents or guardians of the children with ASD according to the DSM V criteria. Data were analyzed via independent -test using the SPSS software version 20. : Interviews were conducted with 51 parents/guardians of autistic children with a mean age of 8.8 years (±2.95) and a predominance of males, 34 (66.7%). Of this total, 49 (96.1%) of the children attended school; 40 (78.4%) children were on medication, of which 38 (74.5%) were on risperidone. Those children on risperidone had a higher score on the SCQ scale ( = 0.049) and on the domain of stereotyped behaviors ( = 0.033), which indicated greater impairment. Another statistically relevant variable was the presence of married parents, whereby children who did not have the presence of married parents had a higher average of stereotyped behaviors compared to those who had married parents. : The results showed differences in the means of social interactions for children on risperidone, especially regarding stereotyped behaviors. However, it is not possible to state whether this difference was due to the use of risperidone or whether they used risperidone precisely because of these behaviors. Also important was that children who had the presence of married parents showed fewer stereotyped behaviors. There was no difference in apathetic behavior between children.
Topics: Male; Humans; Child; Female; Stereotyped Behavior; Cross-Sectional Studies; Autism Spectrum Disorder; Risperidone; Parents
PubMed: 37763786
DOI: 10.3390/medicina59091667 -
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 -
BioRxiv : the Preprint Server For... Sep 2023Programmed cell death is a common feature of animal development. During development of the hermaphrodite, programmed cell death (PCD) removes 131 cells from stereotyped...
Programmed cell death is a common feature of animal development. During development of the hermaphrodite, programmed cell death (PCD) removes 131 cells from stereotyped positions in the cell lineage, mostly in neuronal lineages. Blocking cell death results in supernumerary "undead" neurons. We find that undead neurons can be wired into circuits, can display activity, and can modify specific behaviors. The two undead RIM-like neurons participate in the RIM-containing circuit that computes movement. The addition of these two extra neurons results in animals that initiate fewer reversals and lengthens the duration of those reversals that do occur. We describe additional behavioral alterations of cell-death mutants, including in turning angle and pharyngeal pumping. These findings reveal that, like too much PCD, too little PCD can modify nervous system function and animal behavior.
PubMed: 37745399
DOI: 10.1101/2023.09.11.557249