Pubmed du 18/12/23
1. Barber CF. Providing effective care and support for autistic adults with mental health issues. Nurs Stand;2023 (Dec 18)
Autism is a neurodevelopmental condition that is characterised by features such as persistent differences in social interaction and communication, specialised interests and sensory processing issues. It has been identified that autistic people are increasingly likely to experience various mental health issues, and often encounter challenges in accessing appropriate healthcare and a lack of understanding from healthcare professionals. This article explores the co-occurrence of autism and mental health issues in adults, and explains the role of nurses in providing care and support for this population.
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2. Bedford SA, Lai MC, Lombardo MV, Chakrabarti B, Ruigrok A, Suckling J, Anagnostou E, Lerch JP, Taylor M, Nicolson R, Stelios G, Crosbie J, Schachar R, Kelley E, Jones J, Arnold PD, Courchesne E, Pierce K, Eyler LT, Campbell K, Barnes CC, Seidlitz J, Alexander-Bloch AF, Bullmore ET, Baron-Cohen S, Bethlehem RAI. Brain-charting autism and attention deficit hyperactivity disorder reveals distinct and overlapping neurobiology. medRxiv;2023 (Dec 7)
BACKGROUND: Autism and attention deficit hyperactivity disorder (ADHD) are heterogeneous neurodevelopmental conditions with complex underlying neurobiology. Despite overlapping presentation and sex-biased prevalence, autism and ADHD are rarely studied together, and sex differences are often overlooked. Normative modelling provides a unified framework for studying age-specific and sex-specific divergences in neurodivergent brain development. METHODS: Here we use normative modelling and a large, multi-site neuroimaging dataset to characterise cortical anatomy associated with autism and ADHD, benchmarked against models of typical brain development based on a sample of over 75,000 individuals. We also examined sex and age differences, relationship with autistic traits, and explored the co-occurrence of autism and ADHD (autism+ADHD). RESULTS: We observed robust neuroanatomical signatures of both autism and ADHD. Overall, autistic individuals showed greater cortical thickness and volume localised to the superior temporal cortex, whereas individuals with ADHD showed more global effects of cortical thickness increases but lower cortical volume and surface area across much of the cortex. The autism+ADHD group displayed a unique pattern of widespread increases in cortical thickness, and certain decreases in surface area. We also found evidence that sex modulates the neuroanatomy of autism but not ADHD, and an age-by-diagnosis interaction for ADHD only. CONCLUSIONS: These results indicate distinct cortical differences in autism and ADHD that are differentially impacted by age, sex, and potentially unique patterns related to their co-occurrence.
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3. Bemmouna D, Lagzouli A, Weiner L. The biosocial correlates and predictors of emotion dysregulation in autistic adults compared to borderline personality disorder and nonclinical controls. Mol Autism;2023 (Dec 18);14(1):47.
BACKGROUND: Emotion dysregulation (ED) is a core symptom of borderline personality disorder (BPD), whose aetiology has been attributed to biosocial factors. In autism spectrum condition (ASC), although ED is prevalent and is associated with decreased well-being (e.g. self-harm, suicidality), it has been understudied, especially in adults. It is therefore crucial to further understand ED in autistic adults to improve its treatment. Our study investigates ED, its behavioural correlates (e.g. self-harm, suicidality) and biosocial predictors in autistic adults relative to BPD and nonclinical controls (NC). METHODS: A total of 724 participants (ASC = 154; BPD = 111; NC = 459) completed 11 self-reported questionnaires assessing ED, ASC and BPD traits, co-occurring disorders, alexithymia, emotional vulnerability and invalidating experiences (e.g. bullying, autistic camouflaging). The occurrence of ED behavioural correlates (i.e. self-harm, history of suicide attempts, and psychiatric hospitalizations) was collected. In addition, between-groups analyses, linear regressions and machine learning (ML) models were used to identify ED predictors in each group. RESULTS: ED and its behavioural correlates were higher in ASC compared to NC, but milder than in BPD. While gender did not predict ED scores, autistic women had increased risk factors to ED, including sexual abuse and camouflaging. Interestingly, BPD traits, emotional vulnerability and alexithymia strongly predicted ED scores across the groups. Using ML models, sensory sensitivity and autistic camouflaging were associated with ED in ASC, and ADHD symptoms with ED in BPD. LIMITATIONS: ASC and BPD diagnoses were self-reported, which did not allow us to check their accuracy. Additionally, we did not explore the transactional and the moderating/mediating relationships between the different variables. Moreover, our research is cross-sectional and cannot draw conclusions regarding the direction and causality of relationships between ED and other clinical dimensions. CONCLUSIONS: ED and its behavioural correlates are heightened in BPD compared to ASC and nonclinical controls. In the ASC group, there were no gender differences in ED, despite the heightened exposure of autistic women to ED risk factors. BPD traits, emotional vulnerability, and alexithymia are core to ED regardless of diagnosis. Although less central, sensory sensitivity and autistic camouflaging seem to be specific predictors of ED in autistic adults.
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4. Carmel J, Ghanayem N, Mayouf R, Saleev N, Chaterjee I, Getselter D, Tikhonov E, Turjeman S, Shaalan M, Khateeb S, Kuzminsky A, Kvetniy-Ferdman N, Kronos T, Bretler-Zager T, Koren O, Elliott E. Bacteroides is increased in an autism cohort and induces autism-relevant behavioral changes in mice in a sex-dependent manner. NPJ Biofilms Microbiomes;2023 (Dec 18);9(1):103.
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition which is defined by decreased social communication and the presence of repetitive or stereotypic behaviors. Recent evidence has suggested that the gut-brain axis may be important in neurodevelopment in general and may play a role in ASD in particular. Here, we present a study of the gut microbiome in 96 individuals diagnosed with ASD in Israel, compared to 42 neurotypical individuals. We determined differences in alpha and beta diversity in the microbiome of individuals with ASD and demonstrated that the phylum Bacteroidetes and genus Bacteroides were the most significantly over-represented in individuals with ASD. To understand the possible functional significance of these changes, we treated newborn mice with Bacteroides fragilis at birth. B. fragilis-treated male mice displayed social behavior dysfunction, increased repetitive behaviors, and gene expression dysregulation in the prefrontal cortex, while female mice did not display behavioral deficits. These findings suggest that overabundance of Bacteroides, particularly in early life, may have functional consequences for individuals with ASD.
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5. Cirnigliaro L, Valle MS, Casabona A, Randazzo M, La Bruna F, Pettinato F, Narzisi A, Rizzo R, Barone R. The Griffiths Autism Early Screening (GAES): A Novel Developmental Test for Screening Autism Spectrum Disorder. J Autism Dev Disord;2023 (Dec 18)
This study was undertaken to set a novel developmental screening test for autism spectrum disorder (ASD) using the Griffiths Scales of Child Development (Griffith III), in order to intercept the early atypical developmental patterns indicating ASD risk in the first three years of age. An observational and interactive ASD screener, the Griffiths Autism Early Screening (GAES), was developed by detecting Griffiths III items differentiating toddlers with ASD risk from those with global developmental delay (DD) or neurotypical development. The GAES was validated with ASD-specific diagnostic instruments (ADOS-2) and the cut-off score based on sensitivity, specificity and positive predictive value that best differentiates between ASD and non-ASD children was identified. We enrolled a total sample of 297 subjects, including children at risk for ASD or DD and neurotypical children. At a cut-off score of 12.5, the GAES had a sensitivity of 93%, specificity of 98.4%, positive predictive value of 96.3% and negative predictive value of 96.9% for identifying children at risk for ASD from non-ASD participants (DD/neurotypical children). The GAES total score correlated significantly with the ADOS-2 calibrated severity scores (CSS) (R = 0.53, p < 0.001). Three ASD risk ranges were identified according to GAES total and ADOS-2 CSS: Little-to-no risk (CSS: 1-3, GAES: 1-7); Mild-to-moderate risk (CSS: 4-5, GAES: 8-14); Moderate-to-severe risk (CSS: 6-10, GAES ≥ 15). The GAES provides a direct approach based on developmental profiles to stratify risk for ASD in early childhood ensuring at risk children the most appropriate diagnostic procedures and targeted intervention.
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6. Corbett BA, Key AP, Klemencic ME, Muscatello RA, Jones D, Pilkington J, Burroughs C, Vandekar S. Investigating Social Competence in a Pilot Randomized Clinical Trial of a Theatre-Based Intervention Enhanced for Adults with Autism Spectrum Disorder. J Autism Dev Disord;2023 (Dec 18)
Autism spectrum disorder (ASD) is characterized by challenges in social competence that persist in adulthood, yet few treatment options exist. A pilot randomized clinical trial (RCT) of a peer-mediated, theatre-based intervention with established efficacy in youth with ASD was examined in autistic adults. The final sample consisted of forty-seven 18-to-40-year-old participants randomized to the experimental (EXP N = 23) or waitlist control (WLC N = 24) condition. A multimodal, social interdependent model was employed to examine social competence changes in brain (incidental face memory (IFM) using event-related potentials), cognition (Wechsler Memory Scale-III), behavior (Contextual Assessment of Social Skills) and function (Social Responsiveness Scale (SRS); Adaptive Behavior Assessment Scale (ABAS) Social Composite). Using analysis of covariance in which pretest was controlled in the model, posttest between-group differences were observed on IFM (p = 0.016, η(2) = 0.139, d = 0.79) and several social and adaptive functional (SRS, ABAS) outcomes in social communication and interaction (SCI) (p = 0.019, η(2) = 0.121, d = -00.45), communication (p = 0.044 η(2) = 0.09, d = -00.31), and motivation (p = 0.001, η(2) = 0.229, d = -0.79) domains. At two-month follow-up, gains in social motivation remained (p = 0.041, η(2) = 0.100, d = -0.77). The results offer preliminary support for a unique theatre-based social skills intervention for autistic adults who have few treatment options to enhance social competence. The trial was pre-registered with ClinicalTrials.gov (Identifier: NCT04349644).
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7. Cowen MH, Reddy KC, Chalasani SH, Hart MP. Conserved autism-associated genes tune social feeding behavior in C. elegans. bioRxiv;2023 (Dec 6)
Animal foraging is an essential and evolutionarily conserved behavior that occurs in social and solitary contexts, but the underlying molecular pathways are not well defined. We discover that conserved autism-associated genes ( NRXN1(nrx-1) , NLGN3(nlg-1) , GRIA1,2,3(glr-1) , GRIA2(glr-2) , and GLRA2,GABRA3(avr-15)) regulate aggregate feeding in C. elegans , a simple social behavior. NRX-1 functions in chemosensory neurons (ADL and ASH) independently of its postsynaptic partner NLG-1 to regulate social feeding. Glutamate from these neurons is also crucial for aggregate feeding, acting independently of NRX-1 and NLG-1. Compared to solitary counterparts, social animals show faster presynaptic release and more presynaptic release sites in ASH neurons, with only the latter requiring nrx-1 . Disruption of these distinct signaling components additively converts behavior from social to solitary. Aggregation induced by circuit activation is also dependent on nrx-1 . Collectively, we find that aggregate feeding is tuned by conserved autism-associated genes through complementary synaptic mechanisms, revealing molecular principles driving social feeding. TEASER: Conserved autism-associated genes mediate distinct molecular and circuit signaling components that cooperate to tune C. elegans social feeding behavior.
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8. Dahake U, Tripathy JP, Choudhary A, Jain S, Bang A, Girish M. Teleconsultation for Children With Developmental Disabilities During the Coronavirus Pandemic: Caregivers’ Experience. Cureus;2023 (Nov);15(11):e48816.
Background The unprecedented situation due to the coronavirus disease 2019 (COVID-19) lockdown necessitated the need for teleconsultations with caregivers of children with disabilities. The objective of this study was to explore the acceptability, satisfaction, perceived relevance, and barriers to teleconsultation from a caregiver’s perspective. Methodology This was a descriptive qualitative study (telephonic interviews) involving in-depth interviews (IDIs) with the caregivers of children with developmental disabilities who received teleconsultations. Manual content analysis of transcripts of IDIs was done. Results Eight IDIs were conducted with the caregivers of children with cerebral palsy, autism, and developmental delay. The respondents expressed increased challenges in managing their children during the pandemic and the need for professional consultation. They also expressed difficulty in accessing professional help during the pandemic due to poor healthcare access and fear of getting COVID-19. The following responses were noted: « For almost a year we couldn’t take her for the therapy, » « We were unable to take him to therapy which resulted in an increase in tightness of his limbs, and he became more irritable. » All respondents preferred video teleconsultations during lockdown due to flexible timings, ease of communication, and no travel restrictions; « I can benefit from teleconsultation because she does not have any physical problem. » However, caregivers of children with physical ailments preferred face-to-face consultation. Conclusions Teleconsultation was found to effectively support the treatment and rehabilitation of children with disabilities during the COVID-19 lockdown, although direct face-to-face consultation was preferred by caregivers of children with physical ailments. The use of modern mobile/digital technologies creates new opportunities to improve the quality and accessibility of such services.
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9. de Oliveira Marques V, Kort-Kamp LM, de Souza MAN, Portela MB, Castro G. Oral Health and Behavioral Management of Children with Autistic Spectrum Disorder: A 30-year Retrospective Study. J Autism Dev Disord;2023 (Dec 18)
PURPOSE: This article aims to determine the oral health status, the dental treatment, the behavioral management techniques, and the follow-up of pediatric autistic spectrum disorder (ASD) patients treated at the Clinic for Pediatric Patients with Disabilities (CPPD) at a public university in Brazil. METHODS: The medical records of all the patients seen between 1990 and 2020 were evaluated. Data were collected on the autistic patients’ medical and dental conditions, treatments, behavior during dental visits, behavioral management techniques used, and the entire follow-up period at the clinic. The Student’s t-test and chi-square tests were used to perform the statistical analysis (α = 0.05%). RESULTS: Sixty-six records of ASD children were analyzed from a total of 656 dental records. The majority were male (80.3%). The mean age was 7.39 ± 2.75 years. All the children had a cognitive deficit, and 62.5% used medication. Most of the children arrived with caries lesions (56.1%), and the mean number of decayed, missed and filled teeth in both the deciduous (dmft-d) and permanent dentition (DMFT) was 2.45 ± 3.13 and 0.87 ± 1.51, respectively. The restorative technique was the most commonly used procedure (54.5%), and protective stabilization was the most frequently used behavioral management technique (18.2%). Of the children who sought treatment, 86.4% were discharged, and 15.2% abandoned the procedure. The majority (those discharged) continued to undergo regular follow-up at the clinic (86%), and the incidence of new caries lesions observed was 33.33% Conclusions: Although our ASD patients had a high frequency of caries and dental treatment needs, we observed good adherence to the treatment, with a low dropout rate, and high discharge rate.
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10. Eyuboglu M, Sahbudak B, Eyuboglu D. Understanding Psychiatrists’ Knowledge and Attitudes to Suicidality in Individuals with Autism Spectrum Disorder. Alpha Psychiatry;2023 (Sep);24(5):205-210.
BACKGROUND: Several studies have demonstrated that individuals with autism spectrum disorder (ASD) are at a significantly higher risk of suicide, with over 7.5 times increased likelihood of dying by suicide and higher rates of suicidal ideation. The present study aimed to examine the perspectives and awareness of psychiatrists regarding suicidal behavior in individuals with ASD. METHODS: To achieve this, an online survey was developed to assess clinicians’ practices in evaluating suicidal thoughts and behaviors in individuals with ASD. RESULTS: A total of 143 psychiatrists, including 55 general adult psychiatrists and 88 child and adolescent psychiatrists, completed the cross-sectional survey. The results of the study revealed that clinicians reported lower rates of suicidal ideation and behavior in individuals with ASD compared to those without ASD (P < .05). Furthermore, it was found that the usage of screening tools for assessing suicidal behavior was significantly lower in the ASD group (P < .05). CONCLUSION: The study aimed to investigate psychiatrists' knowledge and screening practices regarding ASD and emphasize the importance of increasing knowledge and implementing effective screening and intervention practices to address the risk of suicidality in individuals with ASD.
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11. Gasser B, Escher G, Calin AE, Deppeler M, Marchon M, Vögel C, Kurz J, Mohaupt M. Corrigendum to « Are steroid hormones and autistic traits affected by metformin? First insights from a pilot » [Compr. Psychneuroendocrinology 16C 100196]. Compr Psychoneuroendocrinol;2023 (Nov);16:100208.
[This corrects the article DOI: 10.1016/j.cpnec.2023.100196.].
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12. Hodge A, Sutherland R, Ong N, Chan E, Barnett D, Bennett B, Boulton K, Francis D, Guastella A, Papanicolaou A, Tomsic G, Williamsz M, Silove N. Telehealth assessment of autism in preschoolers using the TELE-ASD-PEDS: A pilot clinical investigation. Int J Speech Lang Pathol;2023 (Dec 18):1-17.
PURPOSE: Appropriate early intervention is beneficial but dependent on accurate and timely diagnoses. This has been affected by long waiting lists for face-to-face clinical services, in part due to pandemic lockdowns, with telehealth introduced in many services to continue clinical services. This pilot clinical study investigated the feasibility of integrating a specially-designed telepractice autism assessment tool into a tertiary diagnostic service. METHOD: Eighteen boys (2;4-5;1) participated in the study. Assessment was undertaken as per standard practice (parent interview, questionnaires, review of reports), with an additional telepractice assessment, included in place of face-to-face assessment, to provide clinicians with an observation of the children’s communication, behaviours, and interests. Ten parents provided feedback via semi-structured interviews. RESULT: The TELE-ASD-PEDS was a feasible assessment tool in terms of administration, clinical experience, and information gained through the assessment process. Parents reported mostly positive experiences of the TELE-ASD-PEDS and made suggestions for improvements for future use of this tool. CONCLUSION: It is possible to obtain useful information about a child’s autism-specific behaviours using the activities in the TELE-ASD-PEDS. This information can be combined with clinical history from parents using the DSM-5 framework to provide a gold standard assessment for autism.
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13. Hopkins WD, Mulholland M, Latzman RD. Characterizing the personality and gray matter volume of chimpanzees that exhibit autism-related socio-communicative phenotypes. Personal Neurosci;2023;6:e10.
Autism spectrum disorder (ASD) is a developmental disorder characterized by stereotypies or repetitive behaviors and impairments in social behavior and socio-communicative skills. One hallmark phenotype of ASD is poor joint attention skills compared to neurotypical controls. In addition, individuals with ASD have lower scores on several of the Big 5 personality dimensions, including Extraversion. Here, we examine these traits in a nonhuman primate model (chimpanzees; Pan troglodytes) to further understand the relationship between personality and joint attention skills, as well as the genetic and neural systems that contribute to these phenotypes. We used archival data including receptive joint attention (RJA) performance, personality based on caretaker ratings, and magnetic resonance images from 189 chimpanzees. We found that, like humans, chimpanzees who performed worse on the RJA task had lower Extraversion scores. We also found that joint attention skills and several personality dimensions, including Extraversion, were significantly heritable. There was also a borderline significant genetic correlation between RJA and Extraversion. A conjunction analysis examining gray matter volume showed that there were five main brain regions associated with both higher levels of Extraversion and social cognition. These regions included the right posterior middle and superior temporal gyrus, bilateral inferior frontal gyrus, left inferior frontal sulcus, and left superior frontal sulcus, all regions within the social brain network. Altogether, these findings provide further evidence that chimpanzees serve as an excellent model for understanding the mechanisms underlying social impairment related to ASD. Future research should further examine the relationship between social cognition, personality, genetics, and neuroanatomy and function in nonhuman primate models.
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14. Khougar A, Baba Ahmadi P, Ranjbar H, Ahadi M, Ahadi P. Exploring the varied manifestations of structural violence in the lives of children on the autism spectrum and their families: a qualitative longitudinal study in Kurdistan, Iran. Int J Equity Health;2023 (Dec 18);22(1):263.
BACKGROUND: There are many dimensions regarding autism that are closely connected to social structures, policies, and power dynamics, silently impacting the well-being of individuals within the autism spectrum. This research aims to explore these overlooked aspects using a theoretical framework called « structural violence. » METHODS: The study was conducted in Kurdistan, Iran, and a qualitative longitudinal approach was chosen. A purposive sampling method was employed to select the participants, with 11 parents taking part. The study data comprised 29 interviews using a topic guide conducted over a span of 2 years. Thematic analysis and a matrix-based approach were utilized for data analysis. To enhance the scientific rigor of this research, four criteria, including Guba and Lincoln’s principles, were implemented to ensure methodological accuracy. RESULTS: The research findings highlight four primary forms through which structural violence impacts children on the autism spectrum and their families: access to healthcare, geographic disparities, awareness and stigma, and poverty and financial burden. Additionally, the study identified 11 subthemes related to structural violence in the context of autism and families. CONCLUSIONS: We illustrated how structural forces create barriers to accessing adequate healthcare services, exacerbate discrimination based on ethnicity and geography, perpetuate stigma, and contribute to poverty and the inability to meet basic needs. These factors not only worsen health issues but also deepen existing disparities in healthcare access and outcomes for children on the autism spectrum and families. We emphasize the urgent need for systemic changes to address these issues. It is essential to promote public awareness, provide better access to health and support services, and address economic and political factors that contribute to these inequalities.
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15. Kumar H, Kulkarni GT, Diwan V, Sharma B. Shielding Effect of Ryanodine Receptor Modulator in Rat Model of Autism. Basic Clin Neurosci;2023 (Mar-Apr);14(2):247-261.
INTRODUCTION: A neurodevelopmental disorder, autism is typically identified with three primary behavioral consequences, such as social impairment, communication problems, and limited or stereotypical behavior. Because of its co-morbidity and lack of therapeutic options, autism is a global economic burden. A short chain of fatty acid, propionic acid is formed biologically by the gut microbiome. Propionic acid levels that are too high can cause leaky intestines, which can lead to autism-like symptoms. METHODS: To induce autism, male Albino Wistar rats were given propionic acid (250 mg/kg/po on the 21st, 22nd, and 23rd postnatal days). Rats also received a ryanodine receptor antagonist (Ruthenium red: 3 mg/kg/po; postnatal 21st to 50th day) to see what influence it had on propionic acid-induced autism. Anxiety, social behavior, and repeated behaviors were all assessed, as well as oxidative stress, inflammatory indicators, neuro signaling proteins, and blood-brain barrier permeability. RESULTS: Ruthenium red was found to counter the propionic acid-induced increases in anxiety, repetitive behavior prefrontal cortex levels of IL-6, TNF-α, TBARS, Evans blue leakage, and water content along with decreases in social behavior, IL-10, and GSH followed by hippocampus CREB and BDNF levels. CONCLUSION: Ryanodine receptor antagonists presented a neuroprotective effect in propionic acid-induced conditions like autism by modulatory effects on social and repetitive behavior, oxidative stress, neuroinflammation, and neuroprotein changes. Ryanodine receptors can be further explored in depth to manage autism as a condition. HIGHLIGHTS: Ruthenium red can reduce the propionic acid-induced anxiety of rats with autism.Ruthenium red can improve the propionic acid-induced changes in repetitive behavior of rats with autism.Ruthenium red can reduce the propionic acid-induced social behavior dysfunction in rats with autism. PLAIN LANGUAGE SUMMARY: Autism is a complex heterogeneous neurodevelopmental disorder mainly diagnosed with social behavior dysfunction, communication problems, and repetitive behavior. Due to high comorbidity and multiple unknown factors involvement, its exact etiology remains unclear, and so no successful treatment is available. Among the environmentally produced models of autism in rats, the most common is created by propionic acid (PPA). With short-chain type fatty acid, PPA is one of the mediators for the cycle of cell metabolism. This study attempted to study the effect of a ryano-dine receptor antagonist (Ruthenium red) on PPA-induced Anxiety, social behavior dysfunction, and repeated behaviors in rats with autism. The results showed the modulatory effects of Ruthenium red PPA-induced conditions including social and repetitive behavior, oxidative stress, neuroinflammation, and neuroprotein changes in rats with autism.
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16. Lage C, Smith ES, Lawson RP. A Meta-Analysis of Cognitive Flexibility in Autism Spectrum Disorder. Neurosci Biobehav Rev;2023 (Dec 15):105511.
Cognitive flexibility is a fundamental cognitive process that underlies adaptive behaviour in response to environmental change. Studies examining the profile of cognitive flexibility in autism spectrum disorder (ASD) have reported inconsistent findings. To address whether difficulties with cognitive flexibility are characteristic of autism, we conducted a random-effects meta-analysis and employed subgroup analyses and meta-regression to assess the impact of relevant moderator variables such as task, outcomes, and age. Fifty-nine studies were included and comprised of 2122 autistic individuals without intellectual disabilities and 2036 neurotypical controls, with an age range of 4 to 85 years. The results showed that autistic individuals have greater difficulties with cognitive flexibility, with an overall statistically significant small to moderate effect size. Subgroup analyses revealed a significant difference between task outcomes, with perseverative errors obtaining the largest effect size. In summary, the present meta-analysis highlights the existence of cognitive flexibility difficulties in autistic people, in the absence of learning disabilities, but also that this profile is characterised by substantial heterogeneity. Potential contributing factors are discussed.
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17. Le Cunff AL, Dommett E, Giampietro V. Neurophysiological measures and correlates of cognitive load in attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and dyslexia: A scoping review and research recommendations. Eur J Neurosci;2023 (Dec 18)
Working memory is integral to a range of critical cognitive functions such as reasoning and decision-making. Although alterations in working memory have been observed in neurodivergent populations, there has been no review mapping how cognitive load is measured in common neurodevelopmental conditions such as attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and dyslexia. This scoping review explores the neurophysiological measures used to study cognitive load in these specific populations. Our findings highlight that electroencephalography (EEG) and functional magnetic resonance imaging (fMRI) are the most frequently used methods, with a limited number of studies employing functional near-infrared spectroscopy (fNIRs), magnetoencephalography (MEG) or eye-tracking. Notably, eye-related measures are less commonly used, despite their prominence in cognitive load research among neurotypical individuals. The review also highlights potential correlates of cognitive load, such as neural oscillations in the theta and alpha ranges for EEG studies, blood oxygenation level-dependent (BOLD) responses in lateral and medial frontal brain regions for fMRI and fNIRS studies and eye-related measures such as pupil dilation and blink rate. Finally, critical issues for future studies are discussed, including the technical challenges associated with multimodal approaches, the possible impact of atypical features on cognitive load measures and balancing data richness with participant well-being. These insights contribute to a more nuanced understanding of cognitive load measurement in neurodivergent populations and point to important methodological considerations for future neuroscientific research in this area.
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18. Leontiadis LJ, Trompoukis G, Tsotsokou G, Miliou A, Felemegkas P, Papatheodoropoulos C. Rescue of sharp wave-ripples and prevention of network hyperexcitability in the ventral but not the dorsal hippocampus of a rat model of fragile X syndrome. Front Cell Neurosci;2023;17:1296235.
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by intellectual disability and is related to autism. FXS is caused by mutations of the fragile X messenger ribonucleoprotein 1 gene (Fmr1) and is associated with alterations in neuronal network excitability in several brain areas including hippocampus. The loss of fragile X protein affects brain oscillations, however, the effects of FXS on hippocampal sharp wave-ripples (SWRs), an endogenous hippocampal pattern contributing to memory consolidation have not been sufficiently clarified. In addition, it is still not known whether dorsal and ventral hippocampus are similarly affected by FXS. We used a Fmr1 knock-out (KO) rat model of FXS and electrophysiological recordings from the CA1 area of adult rat hippocampal slices to assess spontaneous and evoked neural activity. We find that SWRs and associated multiunit activity are affected in the dorsal but not the ventral KO hippocampus, while complex spike bursts remain normal in both segments of the KO hippocampus. Local network excitability increases in the dorsal KO hippocampus. Furthermore, specifically in the ventral hippocampus of KO rats we found an increased effectiveness of inhibition in suppressing excitation and an upregulation of α1GABA(A) receptor subtype. These changes in the ventral KO hippocampus are accompanied by a striking reduction in its susceptibility to induced epileptiform activity. We propose that the neuronal network specifically in the ventral segment of the hippocampus is reorganized in adult Fmr1-KO rats by means of balanced changes between excitability and inhibition to ensure normal generation of SWRs and preventing at the same time derailment of the neural activity toward hyperexcitability.
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19. Ma M, Yu Q, Delafield DG, Cui Y, Li Z, Li M, Wu W, Shi X, Westmark PR, Gutierrez A, Ma G, Gao A, Xu M, Xu W, Westmark CJ, Li L. On-Tissue Spatial Proteomics Integrating MALDI-MS Imaging with Shotgun Proteomics Reveals Soy Consumption-Induced Protein Changes in a Fragile X Syndrome Mouse Model. ACS Chem Neurosci;2023 (Dec 18)
Fragile X syndrome (FXS), the leading cause of inherited intellectual disability and autism, is caused by the transcriptional silencing of the FMR1 gene, which encodes the fragile X messenger ribonucleoprotein (FMRP). FMRP interacts with numerous brain mRNAs that are involved in synaptic plasticity and implicated in autism spectrum disorders. Our published studies indicate that single-source, soy-based diets are associated with increased seizures and autism. Thus, there is an acute need for an unbiased protein marker identification in FXS in response to soy consumption. Herein, we present a spatial proteomics approach integrating mass spectrometry imaging with label-free proteomics in the FXS mouse model to map the spatial distribution and quantify levels of proteins in the hippocampus and hypothalamus brain regions. In total, 1250 unique peptides were spatially resolved, demonstrating the diverse array of peptidomes present in the tissue slices and the broad coverage of the strategy. A group of proteins that are known to be involved in glycolysis, synaptic transmission, and coexpression network analysis suggest a significant association between soy proteins and metabolic and synaptic processes in the Fmr1(KO) brain. Ultimately, this spatial proteomics work represents a crucial step toward identifying potential candidate protein markers and novel therapeutic targets for FXS.
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20. McQuaid GA, Duane SC, Ahmed N, Lee NR, Charlton R, Wallace GL. Increased anticholinergic medication use in middle-aged and older autistic adults and its associations with self-reported memory difficulties and cognitive decline. Autism Res;2023 (Dec 18)
Many commonly used prescription and over-the-counter medicines have potent anticholinergic (AC) effects. Among older adults, AC medications are associated with cognitive impairment and risk for cognitive disorders, including Alzheimer’s disease. Collectively, the impact of AC medications is known as anticholinergic cognitive burden (ACB). Because of the high rates of co-occurring medical and psychiatric conditions, autistic adults may have high AC exposure and, thus, may experience elevated ACB. However, no research has characterized AC exposure or examined its associations with cognitive outcomes in autistic adults. Autistic adults (40-83 years) recruited via Simons Powering Autism Research’s (SPARK) Research Match service self-reported their medication use (N = 415) and memory complaints (N = 382) at Time (T)1. At T2, 2 years later, a subset of T1 participants (N = 197) self-reported on decline in cognition. Medications were coded using two scales of AC potency. A high proportion (48.2%-62.9%, depending upon the AC potency scale) of autistic adults reported taking at least one medication with AC effects, and 20.5% to 26.5% of autistic adults reported clinically-relevant levels of AC medication (potency ≥3). After controlling for birth-sex, and age, hierarchical linear regression models showed total ACB scores and AC potency values of ≥3 predicted greater memory complaints. Logistic regression models showed that AC medicines at T1 were associated with self-reported cognitive decline at follow-up 2 years later. Understanding AC medications-including potentially earlier AC polypharmacy-and their impacts on cognition (e.g., dementia risk) in autistic adults is warranted.
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21. Miao Z, Chen L, Zhang Y, Zhang J, Zhang H. Bifidobacterium animalis subsp. lactis Probio-M8 alleviates abnormal behavior and regulates gut microbiota in a mouse model suffering from autism. mSystems;2023 (Dec 18):e0101323.
Individuals with autism often exhibit symptoms of social invariance, obsessive-compulsive tendencies, and repetitive behaviors. However, early intervention and treatment can be effective in improving social skills and mitigating autism symptoms, including behaviors related to irritability. Although taking medication for autism may lead to side effects such as weight gain, probiotics can be an ideal intervention for alleviating these symptoms. In this study, we investigated the effects of Probio-M8 intervention on the behavior of autistic mice using an open-field test, a three-chamber sociability test, and a novel object recognition test. Metagenomic analysis revealed differences in gut microbiota diversity among groups, predicted changes in metabolite levels, and functionally annotated CAZy. Additionally, we analyzed serum neurotransmitter levels and found that probiotics were beneficial in mitigating neurotransmitter imbalances in mice with autism.
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22. Moore HL, Cassidy S, Rodgers J. Exploring the mediating effect of camouflaging and the moderating effect of autistic identity on the relationship between autistic traits and mental wellbeing. Autism Res;2023 (Dec 18)
Mental health difficulties are prevalent among autistic adults. Camouflaging (behaving differently to fit in) may be a mechanism by which autistic traits and mental health difficulties relate to each other, but little research has considered the role of different facets of camouflaging. Additionally, autistic identity might buffer against camouflaging and mental health difficulties. This research aims to explore the mediating effects of camouflaging behaviours on the relationship between autistic traits and both positive and negative mental wellbeing, as well as how autistic identity might moderate the relationship between autistic traits and camouflaging, and also mental health. Data were available for 627 autistic adults, recruited through volunteer databases and social media. Participants completed measures of autistic traits, anxiety, depression, positive wellbeing, camouflaging behaviours (compensating for difficulties, masking, and assimilating/putting on an act) and autistic identity. Mediation and moderated mediation models were tested, applying 95% bootstrapped CIs (10,000 resamples) and including age, gender and diagnosis as covariates. There were no significant direct effects between autistic traits and mental wellbeing. Assimilation was a significant mediator of all mental wellbeing measures, and compensation was a significant mediator of positive wellbeing only. Autistic identity was not a significant moderator. Assimilation and compensation should be considered when offering psychological interventions to support mental wellbeing of autistic people. Additional research into external drivers of camouflaging (e.g. stigma) and mechanisms by which camouflaging impacts mental wellbeing, such as autonomy, authenticity, skill mastery and community, may identify other areas of support. Concurrently, societal change is necessary to reduce the need to camouflage.
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23. Özdemir H, Ayran G, Topuz Ç. Psychometric properties of the Turkish version of the parental competence scale for parents of children with autism. J Pediatr Nurs;2023 (Dec 18);74:122-128.
BACKGROUND: Parental competence is an important concept in increasing the quality of care provided to individuals with special needs and the quality of life of parents. This study was aimed to evaluate the psychometric properties of the Turkish version of the Parental Competence Scale designed for parents of children with autism spectrum disorders. METHOD: This methodological study was conducted with 433 parents of children with autism between November 2021 and February 2023. Information Form, the Parental Competence Scale for Parents of Children with Autism, and the Parental Self-Efficacy Scale were used to collect the data. The data were assessed using content and construct validity, item analysis, confirmatory factor analysis, and internal consistency. Guidelines for reporting reliability and agreement studies (GRRAS) were adhered to in the study. FINDINGS: The content validity index of the scale was 0.93. Item-total score correlation values ranged from 0.338 to 0.846. As a result of confirmatory factor analysis, the two-factor structure of the scale consisting of 19 items was confirmed. Factor loads were >0.30 and fit indices were >0.80. The Cronbach’s alpha coefficient of the Turkish version of the scale was 0.85, and the Cronbach’s alpha values of its sub-dimensions were 0.71 and 0.79. CONCLUSION: The parental competence scale for parents of children with autism is a valid and reliable measurement tool for Turkey. PRACTICE IMPLICATIONS: Pediatric nurses, all health professionals, special education professionals and teachers can use this scale in interventional studies aiming to evaluate or improve the competencies of parents with autistic children in the future.
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24. Rast JE, Tao S, Schott W, Shea LL, Brodkin ES, Kerns CM, Leonard CE, Murray MJ, Lee BK. Psychotropic Medication Use in Children and Youth with Autism Enrolled in Medicaid. J Autism Dev Disord;2023 (Dec 18)
Children with autism frequently present with complex mental health diagnoses and psychotropic medications are often a component of comprehensive biopsychosocial treatment plans for these conditions. The purpose of this study is to provide rates and patterns of psychotropic medication use, and predictors thereof, in children and youth with autism enrolled in Medicaid across the US. This study examined national Medicaid claims from 2008 to 2016 of all children and youth with autism ages 0-21 years enrolled in Medicaid. Psychotropic medication use was examined across several child and youth characteristics, including age, co-occurring mental health conditions, sex, and race and ethnicity. About half of children and youth with autism enrolled in Medicaid had at least one psychotropic prescription in a year, a number that decreased slightly across the study period due to decreases in the prescription of antipsychotics. As new medications for autism or co-occurring conditions are developed and deployed, and as the understanding of the characteristics of the population of children with autism evolves, studying rates of medication usage helps to understand utilization patterns and differences in access to quality care.
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25. Reisi-Vanani V, Lorigooini Z, Bijad E, Amini-Khoei H. Maternal separation stress through triggering of the neuro-immune response in the hippocampus induces autistic-like behaviors in male mice. Int J Dev Neurosci;2023 (Dec 18)
Autism spectrum disorder (ASD) is the fastest-growing neurodevelopmental disease throughout the world. Neuro-immune responses from prenatal to adulthood stages of life induce developmental defects in synaptic signaling, neurotransmitter imbalance, and even structural changes in the brain. In this study, we aimed to focus on the possible role of neuroinflammatory response in the hippocampus in development of the autistic-like behaviors following maternal separation (MS) stress in mice. To do this, mice neonates daily separated from their mothers from postnatal day (PND) 2 to PND 14 for 3 h. During PND45-60, behavioral tests related to autistic-like behaviors including three-chamber sociability, Morris water maze (MWM), shuttle box, resident-intruder, and marble burying tests were performed. Then, hippocampi were dissected out, and the gene expression of inflammatory mediators including TNF-α, IL-1β, TLR4, HMGB1, and NLRP3 was assessed in the hippocampus using RT-PCR. Results showed that MS mice exerted impaired sociability preference, repetitive behaviors, impaired passive avoidance, and spatial memories. The gene expression of inflammatory mediators significantly increased in the hippocampi of MS mice. We concluded that MS stress probably via activating of the HMGB1/TLR4 signaling cascade in the hippocampus induced autistic-like behaviors in mice.
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26. Valagussa G, Purpura G, Balatti V, Trentin L, Signori A, Grossi E. Quantitative assessment of tip-toe behavior in individuals with autism spectrum disorder and intellectual disability: A cross-sectional study. Autism Res;2023 (Dec 18)
The term « toe walking » describes walking on the toes with a lack of heel strike upon initiation of the stance phase of gait. In individuals with autism spectrum disorder (ASD), this phenomenon, or « tip-toe behavior » (TTB), can be present in a substantial proportion of subjects even during standing. In this study, we investigated TTB in 50 persons with ASD (age range 4-26 years). We evaluated TTB through an observational/report-based assessment protocol. Subsequently, we employed a new structured video-based coding protocol based on standardized video recordings, focusing on static and dynamic conditions. Finally, the findings of the two protocols were compared. Twenty-four subjects with TTB were identified and classified according to three functional groups: TTB1, present only during running (6 subjects); TTB2, present during walking and running (11 subjects); and TTB3, present during standing, walking, and running (7 subjects). Moreover, we found that TTB3 subjects exhibited a significantly higher quantity of TTB compared with subjects in the TTB1 and TTB2 groups during both standing and walking tests. Additionally, a high quantity of TTB in the static test was found to be related to a high quantity of TTB in the dynamic test. Variables such as age, autism severity, intellectual disability, and gender were not significantly associated with the mean percent of TTB both in static and dynamic tests in multivariate analysis. This structured video-based coding approach appears feasible and useful for assessing TTB in individuals with ASD and it has the potential to provide insights into TTB trajectories and aid in designing possible interventions.