Pubmed du 11/01/22
1. Deng PY, Avraham O, Cavalli V, Klyachko VA. Hyperexcitability of Sensory Neurons in Fragile X Mouse Model. Frontiers in molecular neuroscience. 2021; 14: 796053.
Sensory hypersensitivity and somatosensory deficits represent the core symptoms of Fragile X syndrome (FXS). These alterations are believed to arise from changes in cortical sensory processing, while potential deficits in the function of peripheral sensory neurons residing in dorsal root ganglia remain unexplored. We found that peripheral sensory neurons exhibit pronounced hyperexcitability in Fmr1 KO mice, manifested by markedly increased action potential (AP) firing rate and decreased threshold. Unlike excitability changes found in many central neurons, no significant changes were observed in AP rising and falling time, peak potential, amplitude, or duration. Sensory neuron hyperexcitability was caused primarily by increased input resistance, without changes in cell capacitance or resting membrane potential. Analyses of the underlying mechanisms revealed reduced activity of HCN channels and reduced expression of HCN1 and HCN4 in Fmr1 KO compared to WT. A selective HCN channel blocker abolished differences in all measures of sensory neuron excitability between WT and Fmr1 KO neurons. These results reveal a hyperexcitable state of peripheral sensory neurons in Fmr1 KO mice caused by dysfunction of HCN channels. In addition to the intrinsic neuronal dysfunction, the accompanying paper examines deficits in sensory neuron association/communication with their enveloping satellite glial cells, suggesting contributions from both neuronal intrinsic and extrinsic mechanisms to sensory dysfunction in the FXS mouse model.
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2. Grangeret J, Frismand S, Muller M, Renaud M, Verger A. Brain 18F-FDG PET in Cowden Syndrome. Clinical nuclear medicine. 2022; 47(2): e118-e9.
Cowden disease is associated with neurodevelopmental abnormalities such as macrocephaly, autism spectrum disorder, and developmental delay. Our understanding of neuroimaging anomalies in patients with PTEN mutations is limited to anatomical MRI abnormalities including white matter abnormalities, meningiomas, arteriovenous malformations, and cortical dysplasia. Our current communication extends the neurological Cowden syndrome phenotype by using brain 18F-FDG PET/CT imaging as a useful complementary approach to MRI to explore movement disorders and neuropsychiatric syndromes in a patient with Cowden disease. Brain 18F-FDG PET/CT showed diffuse hypometabolism of the prefrontal mesial and dorsolateral areas including supplementary motor areas, the pons extended to the cerebellum.
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3. Harutyunyan AA, Harutyunyan HA, Yenkoyan KB. Novel Probable Glance at Inflammatory Scenario Development in Autistic Pathology. Frontiers in psychiatry. 2021; 12: 788779.
Autism Spectrum Disorder (ASD) is characterized by persistent deficits in social communication and restricted-repetitive patterns of behavior, interests, or activities. ASD is generally associated with chronic inflammatory states, which are linked to immune system dysfunction and/or hyperactivation. The latter might be considered as one of the factors damaging neuronal cells. Several cell types trigger and sustain such neuroinflammation. In this study, we traced different markers of immune system activation on both cellular (immune cell phenotypes) and mediatory levels (production of cytokines) alongside adverse hematology and biochemistry screening in a group of autistic children. In addition, we analyzed the main metabolic pathways potentially involved in ASD development: energy (citric acid cycle components), porphyrin, and neurotransmitter metabolism. Several ASD etiological factors, like heavy metal intoxication, and risk factors-genetic polymorphisms of the relevant neurotransmitters and vitamin D receptors-were also analyzed. Finally, broad linear regression analysis allowed us to elucidate the possible scenario that led to the development of chronic inflammation in ASD patients. Obtained data showed elevated levels of urinary cis-aconitate, isocitrate, alfa-ketoglutarate, and HMG. There were no changes in levels of metabolites of monoamine neurotransmitters, however, the liver-specific tryptophan kinurenine pathway metabolites showed increased levels of quinolinate (QUIN) and picolinate, whereas the level of kynurenate remained unchanged. Abovementioned data demonstrate the infringement in energy metabolism. We found elevated levels of lead in red blood cells, as well as altered porphyrin metabolism, which support the etiological role of heavy metal intoxication in ASD. Lead intoxication, the effect of which is intensified by a mutation of the VDR-Taq and MAO-A, leads to quinolinic acid increase, resulting in energy metabolism depletion and mitochondrial dysfunction. Moreover, our data backing the CD4+CD3+ T-cell dependence of mitochondrial dysfunction development in ASD patients reported in our previous study leads us to the conclusion that redox-immune cross-talk is considered a main functional cell damaging factor in ASD patients.
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4. Hashmi SI, Ah Gang GC, Sombuling A, Md Nawi NH, Megat Ahmad PH. Psychometric Properties and Factor Structure of the Malay Autism Spectrum Quotient: Children’s Version. The Malaysian journal of medical sciences : MJMS. 2021; 28(6): 108-20.
INTRODUCTION: The Malay autism spectrum quotient, children’s version (AQ-Child) is a translated and reduced version of the autism spectrum disorder (ASD) screening instrument. The aim of this study was to test the reliability and validity of the translated Malay version of the questionnaire. METHODS: The instrument is a 41-item Likert scale form parental questionnaire designed to screen ASD among children aged 6 years old-12 years old. It was filled out by the parents of 700 children (children with ASD = 47; typically developing children = 653) who were contacted through five special education schools and seven mainstream primary schools. RESULTS: Findings showed that Malay AQ-Child has an internal consistency of 0.82 as a whole scale for 41-items. Receiver operator characteristic analysis showed that the cut score of 63 for the translated, reduced version of the AQ-Child with 41 items had 99% area (95% confidence interval [CI]) under receiver operating characteristic (ROC) curve, and sensitivity and specificity of 93% and 99%, respectively. As for factor structure, principal component analysis (PCA) showed good loading values for most of the items in the instrument. CONCLUSION: The translated version of the Malay AQ-Child for screening ASD can further facilitate the process of surveillance and early intervention for children who need it.
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5. Kadlaskar G, Bergmann S, McNally Keehn R, Seidl A, Keehn B. Electrophysiological Measures of Tactile and Auditory Processing in Children With Autism Spectrum Disorder. Frontiers in human neuroscience. 2021; 15: 729270.
Behavioral differences in responding to tactile and auditory stimuli are widely reported in individuals with autism spectrum disorder (ASD). However, the neural mechanisms underlying distinct tactile and auditory reactivity patterns in ASD remain unclear with theories implicating differences in both perceptual and attentional processes. The current study sought to investigate (1) the neural indices of early perceptual and later attentional factors underlying tactile and auditory processing in children with and without ASD, and (2) the relationship between neural indices of tactile and auditory processing and ASD symptomatology. Participants included 14, 6-12-year-olds with ASD and 14 age- and non-verbal IQ matched typically developing (TD) children. Children participated in an event-related potential (ERP) oddball paradigm during which they watched a silent video while being presented with tactile and auditory stimuli (i.e., 80% standard speech sound/a/; 10% oddball speech sound/i/; 10% novel vibrotactile stimuli on the fingertip with standard speech sound/a/). Children’s early and later ERP responses to tactile (P1 and N2) and auditory stimuli (P1, P3a, and P3b) were examined. Non-parametric analyses showed that children with ASD displayed differences in early perceptual processing of auditory (i.e., lower amplitudes at central region of interest), but not tactile, stimuli. Analysis of later attentional components did not show differences in response to tactile and auditory stimuli in the ASD and TD groups. Together, these results suggest that differences in auditory responsivity patterns could be related to perceptual factors in children with ASD. However, despite differences in caregiver-reported sensory measures, children with ASD did not differ in their neural reactivity to infrequent touch-speech stimuli compared to TD children. Nevertheless, correlational analyses confirmed that inter-individual differences in neural responsivity to tactile and auditory stimuli were related to social skills in all children. Finally, we discuss how the paradigm and stimulus type used in the current study may have impacted our results. These findings have implications for everyday life, where individual differences in responding to tactile and auditory stimuli may impact social functioning.
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6. Kourti M. A Critical Realist Approach on Autism: Ontological and Epistemological Implications for Knowledge Production in Autism Research. Frontiers in psychology. 2021; 12: 713423.
The ontological status of autism has been a subject of considerable debate and philosophical approaches of it have been recent and sparse. On the one hand, from its conception, autism has been historically heavily located in the fields of psychiatry, psychology and neuroscience, which often assume access to an « objective, » neutral and infallible reality that is external to the research process and is based on the autistic person’s biology and behavioural characteristics, which can be scientifically observed and studied. On the other, proponents of the neurodiversity movement argue against medicalised and pathologising approaches to autism and toward approaches that consider social constructions of autism and relations of power. The Critical Realist philosophy can help reconcile the two positions. Critical Realism conceptualises objectivity as a statement about an object, rather than a neutral and infallible reality. Consequently, Critical Realism suggests that access to reality can only occur through fallible theories. It also suggests that effective theorising goes beyond appearances and phenomena and may even contradict them, which can help challenge dominant behaviourist approaches on autism. I then explore how the tenets of Critical Realism can help strengthen autistic-led theories of autism, the arguments they make, as well as how they support the importance of community autism knowledge. Finally, I present how Critical Realism’s approach to knowledge itself as well as the process of knowledge creation can strengthen autistic theorising, autistic participation in autism research and autistic emancipation. In the last part of the article, I explore how the concepts of Critical Realism apply to autistic sociability. I start with the debate between structure and agency, how Critical Realism reconciles this debate and the implications for autistic emancipation and autism research. I then present Critical Realism’s process of critique and explanation, how they connect to human emancipation and how they can lead to impactful change in autism research by requiring clear links from research to practice, enhancing practices with strong theoretical underpinnings and thus aiding the aims of emancipatory autism research.
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7. Liu Y, Wang L, Xie S, Pan S, Zhao J, Zou M, Sun C. Attention Deficit/Hyperactivity Disorder Symptoms Impair Adaptive and Social Function in Children With Autism Spectrum Disorder. Frontiers in psychiatry. 2021; 12: 654485.
Background: Autism spectrum disorder (ASD) often co-exists with attention deficit/hyperactivity disorder (ADHD), which may aggravate functional impairment. However, it is unclear how comorbid ADHD symptoms influence the adaptive behavior and social interaction deficits of children with ASD. Methods: The study enrolled 340 children (ranging from 2 to 14 years) with ASD, with comorbid ASD and ADHD, or with typical development (TD). A psychological evaluation involving adaptive behavior and social function was conducted using the Vineland Adaptive Behavior Scale, Second Edition (VABS-II) and the Social Responsiveness Scale (SRS). Results: There was a high prevalence of ADHD symptoms (46.6%) in children with ASD, and children with ASD + ADHD presented the worse profile of ASD symptoms. The ASD + ADHD group had higher scores on VABS and lower scores on SRS in comparison with the ASD alone group and TD group. The regression analysis revealed that ASD symptoms and ADHD symptoms were significantly associated with greater impairments in adaptive behavior and social function. The ADHD symptoms were responsible for an additional 0.8% of the variance in adaptive behavior, and 9.5% of the variance in social function. Conclusions: More severe ASD symptoms and greater impairment in adaptive function and social ability were found in children with ASD and comorbid ADHD, highlighting the need to identify ADHD comorbidities early on in children with ASD and to reduce their negative impact on functioning.
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8. Nielsen S, Dobrescu SR, Dinkler L, Gillberg C, Gillberg C, Råstam M, Wentz E. Effects of autism on 30-year outcome of anorexia nervosa. Journal of eating disorders. 2022; 10(1): 4.
BACKGROUND: Long-term consequences of comorbid autism spectrum disorder (ASD) in individuals with anorexia nervosa (AN) are inadequately investigated. METHODS: In the 1980s, 51 adolescent-onset AN cases (AN group) and 51 matched controls (COMP group) were recruited from the community. They have been examined on five occasions. The four last assessments included the Morgan-Russell Outcome Assessment Schedule (MROAS) to assess eating disorder outcomes (weight, dieting, menstruation), and related problems including psychiatric, psychosexual and socioeconomic state. In the present study, at age 44, when 30 years had elapsed, MROAS data were compared with previous results. At age 16, 21, 24 and 32 years, all individuals had been assessed regarding ASD. At the 30-year follow-up, the impact of the ASD on the MROAS data was analysed. RESULTS: In the AN group, all core anorectic symptoms (weight, dieting, menstruation) were on a par with the COMP group at the 30-year follow-up, but the positive outcomes were limited to those who had never had an ASD diagnosis. Psychiatric state was significantly worse in the AN group, particularly in the subgroup who had an ASD diagnosis assigned. The AN group-again particularly those with ASD-had a more negative attitude to sexual matters than the COMP group. The AN group had worse outcomes than the COMP group for ‘personal contacts’, ‘social contacts,’ and ’employment record’ at the 30-year follow-up and the outcomes were worse the more often an ASD diagnosis had been assigned. LIMITATIONS: Rare data collection points throughout 30 years (only 5 assessments). ASD was assessed in the first four studies but was not assessed again at the 30-year follow-up. CONCLUSIONS: Mental health, psychosexual, and socioeconomic status were compromised up to 30 years after AN onset. Coexisting ASD contributed to the poor outcome. Core anorectic symptoms had « normalised » three decades after AN onset. Some individuals with anorexia nervosa (AN) also suffer from autism. In this study we have investigated outcome of AN 30 years after the onset of AN and whether the presence of autism affects the outcome. Since the 1980s we have followed 51 individuals with teenage-onset AN and 51 healthy controls. They have been examined on five occasions, and an instrument that measures symptoms of AN (weight, dieting, body image), psychiatric symptoms, ability to work, and relationships with partner, family, and friends has been used to assess outcome. Autism was assessed in the first four studies. Symptoms of AN had normalised at 30-year follow-up, but only among those without autism. Psychiatric symptoms, ability to work, and relationships were issues that persisted after 30 years in the AN group, and those who had both autism and a history of AN had even more pronounced problems in these areas. The AN group had a more negative attitude to sexual matters than the control group, the outcome was worse the more often an autism diagnosis had been assigned. CONCLUSIONS: Mental health, psychosexual, and socioeconomic status are affected up to 30 years after AN onset, particularly among those with autism.
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9. Ozdemir S, Akin-Bulbul I, Kok I, Ozdemir S. Development of a visual attention based decision support system for autism spectrum disorder screening. International journal of psychophysiology : official journal of the International Organization of Psychophysiology. 2022; 173: 69-81.
Visual attention of young children with autism spectrum disorder (ASD) has been well documented in the literature for the past 20 years. In this study, we developed a Decision Support System (DSS) that uses machine learning (ML) techniques to identify young children with ASD from typically developing (TD) children. Study participants included 26 to 36 months old young children with ASD (n = 61) and TD children (n = 72). The results showed that the proposed DSS achieved up to 87.5% success rate in the early assessment of ASD in young children. Findings suggested that visual attention is a unique, promising biomarker for early assessment of ASD. Study results were discussed, and suggestions for future research were provided.
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10. Pan T, Jiang C, Cheng J, Xie J, Liu X, Xu W, He G. Autism-Like Behavior in the Offspring of CYP11A1-Overexpressing Pregnant Rats. Frontiers in neuroscience. 2021; 15: 774439.
Autism spectrum disorders (ASD) represent a complex group of neurodevelopmental disorders that are characterized by impaired social behavior and communication as well as repetitive behavior and restricted interests. Prenatal exposure to high levels of testosterone and preeclampsia are thought to be risk factors of ASD. We had previously reported that overexpression of the mitochondrial cholesterol side-chain cleavage enzyme (CYP11A1) could lead to both preeclampsia-like symptoms and increased testosterone levels in pregnant rats. In this study, we investigated the association between high CYP11A1 levels in pregnant rats and autism-like behavior in their offspring. Timed-pregnant Sprague-Dawley (SD) rats were injected with CYP11A1 gene-carrying adenoviruses on gestational day 8.5, and their offspring were then compared with those from timed-pregnant control SD rats. Compared with their control counterparts, the offspring of the CYP11A1-ovexpressing dams displayed more symptoms of anxiety and spent less time in social interactions and more time in self-grooming and rearing, all indicators of autism-like behavior. Sequencing of the transcriptome in primary microglia from the offspring of CYP11A1-overexpressing dams revealed that immune pathways were highly activated, and the gamma-aminobutyric acid type A (GABAA) receptor genes were among the top differentially expressed genes. Using primary microglia cultures generated from neonatal rats, tumor necrosis factor-alpha expression was found to be elevated in the cells transfected with CYP11A1-carrying adenoviruses. Additionally, the offspring of CYP11A1-overexpressing dams displayed dysregulated GABAA receptor expression. Taken together, these results suggest that abnormal CYP11A1 gene expression in pregnant rats could lead to microglial immune activation and dysregulated GABAA receptor expression in their offspring and thereby anxiety and autism-related behavior. Our study suggests that the pathways regulated by CYP11A1 could be promising preventative and therapeutic targets for ASD.
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11. Poulsen R, Brownlow C, Lawson W, Pellicano E. Meaningful research for autistic people? Ask autistics!. Autism : the international journal of research and practice. 2022; 26(1): 3-5.
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12. Pyszkowska A, Rożnawski K, Farny Z. Self-stigma and cognitive fusion in parents of children with autism spectrum disorder. The moderating role of self-compassion. PeerJ. 2021; 9: e12591.
BACKGROUND: Research shows that people with autism spectrum disorder and their families often experience social stigma. The internalization of social stigma can lead to the occurrence of self-stigma, understood as an internalized cognitive-affective self-directed and rigid process that results in individuals agreeing with stigmatizing opinions and applying them to themselves. Experiencing self-stigma can lead to a cognitive fusion with negative thoughts-especially those about oneself. Previous studies show that self-compassion reduces feelings of suffering, shame and self-stigma in a group of parents of children with autism spectrum disorder. The aim of this study was to test the relationship between self-stigma and cognitive fusion among parents of children with ASD. The moderating role of self-compassion as a protective factor was also verified. METHODS: The following questionnaires were used: Perceived Public Stigma Scale, Perceived Courtesy Stigma Scale, Self-Compassion Scale-Short Form, Cognitive Fusion Questionnaire, and Depression, Anxiety and Stress Scale. The study included 233 Polish parents of children with autism spectrum disorder (including 218 women). RESULTS: The results showed a positive correlation between fusion and both affiliate (r = 0.31, p < 0.001) and public stigma (r = 0.33, p < 0.001). Fusion and self-compassion were significant predictors of affiliate stigma. Self-compassion moderated the relationship between fusion and depression (β = -0.11, p < 0.05) and the relationship between fusion and stress (β = -0.11, p < 0.05). Cognitive fusion with negative beliefs about oneself can contribute to self-stigma. Defusion-oriented actions are an opportunity to distance oneself from emerging thoughts and eliminate their negative consequences. Self-compassion manifests itself in a compassionate and accepting attitude towards oneself and improves the individual's well-being. Actions taken to strengthen the indicated factors could contribute to a better quality of life of parents of children with ASD.
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13. Rodocanachi Roidi ML, Toshimori K, Colletti A, Ripamonti E, Olivieri I. A semi-standardized music therapy intervention for girls with Rett syndrome: A descriptive essay. Journal of pediatric rehabilitation medicine. 2022.
Rett syndrome (RTT) is a severe neurodevelopmental disorder resulting in a wide range of functional impairments and therefore greatly impacts the lives of both patients and their families. While genetic and medical aspects have been studied for several decades, rehabilitation intervention research is still in its infancy. In this study, the investigating researchers have presented a rehabilitative framework by using music therapy for girls with RTT. This model is founded upon the use of music therapy in light of Stern’s proposal of subjective experience and affect attunement; it also refers to Rosenbaum’s family-centered rehabilitation medicine perspective. This study both describes the theory behind this intervention and presents a newly developed outcome measure. This novel tool may have future clinical and research applications. Music therapy for patients with RTT has not been well researched yet, and as a result, is not universally recommended. However this study’s findings suggest that music therapy is an important component of multidisciplinary therapy. Further collaborative research should be encouraged in order to study and implement the use of music therapy in the treatment of severe disabilities. Projects such as the Enablin+program with the support from the European Commission constitute fundamental tools in promoting integrative medical research and international networks.
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14. Rothman EF, Graham Holmes L, Caplan R, Chiang M, Haberer B, Gallop N, Kadel R, Person M, Sanchez A, Quinn E, Wharmby P. Healthy Relationships on the Autism Spectrum (HEARTS): A feasibility test of an online class co-designed and co-taught with autistic people. Autism : the international journal of research and practice. 2022; 26(3): 690-702.
The Healthy Relationships on the Autism Spectrum class is unique because autistic people helped to develop it and co-taught it. It is an online, six-session class. The class was piloted in 2020-2021 with 55 autistic people who were ages 18-44 years old. This feasibility study found that most people who took the class liked it. Surveys filled out by the students before and after the class showed that they became less sensitive to rejection, used more positive thinking skills, and were more interested in being social. However, the class may not have made them feel less lonely. The team that invented the class is using the feedback to improve it. The class holds promise for improving the quality of friendships and dating relationships for autistic adults and should be tested further.
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15. Sodhi DK, Hagerman R. Fragile X Premutation: Medications, Therapy and Lifestyle Advice. Pharmacogenomics and personalized medicine. 2021; 14: 1689-99.
The fragile X premutation is characterized by 55-200 CGG repeats in the 5′ untranslated region of FMR1, whereas full fragile X mutation has greater than 200 repeats and full methylation, which manifests as fragile X syndrome (FXS). The premutation spectrum of clinical involvement includes fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND). In addition, premutation carriers also suffer from various other health problems such as endocrine abnormalities and autoimmune problems. In this paper, we have discussed different health issues faced by the carriers and interventions including medications, therapy and lifestyle changes that could improve their health.
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16. Takarae Y, Zanesco A, Keehn B, Chukoskie L, Müller RA, Townsend J. EEG microstates suggest atypical resting-state network activity in high-functioning children and adolescents with autism spectrum development. Developmental science. 2022: e13231.
EEG microstates represent transient electrocortical events that reflect synchronized activities of large-scale networks, which allows investigations of brain dynamics with sub-second resolution. We recorded resting EEG from 38 children and adolescents with Autism Spectrum Development (ASD) and 48 age, IQ, sex, and handedness-matched typically developing (TD) participants. The EEG was segmented into a time series of microstates using modified k-means clustering of scalp voltage topographies. The frequency and global explained variance (GEV) of a specific microstate (type C) were significantly lower in the ASD group compared to the TD group while the duration of the same microstate was correlated with the presence of ASD-related behaviors. The duration of this microstate was also positively correlated with participant age in the TD group, but not in the ASD group. Further, the frequency and duration of the microstate were significantly correlated with the overall alpha power only in the TD group. The signal strength and GEV for another microstate (type G) was greater in the ASD group than the TD group, and the associated topographical pattern differed between groups with greater variations in the ASD group. While more work is needed to clarify the underlying neural sources, the existing literature supports associations between the two microstates and the default mode and salience networks. The current study suggests specific alterations of temporal dynamics of the resting cortical network activities as well as their developmental trajectories and relationships to alpha power, which has been proposed to reflect reduced neural inhibition in ASD.
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17. Tsou HL, Chen MH, Liang CS. Prenatal Exposure to Antipsychotics-Handle With Caution. JAMA internal medicine. 2022; 182(3): 354.
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18. Vyas Y, Cheyne JE, Lee K, Jung Y, Cheung PY, Montgomery JM. Shankopathies in the Developing Brain in Autism Spectrum Disorders. Frontiers in neuroscience. 2021; 15: 775431.
The SHANK family of proteins play critical structural and functional roles in the postsynaptic density (PSD) at excitatory glutamatergic synapses. Through their multidomain structure they form a structural platform across the PSD for protein-protein interactions, as well as recruiting protein complexes to strengthen excitatory synaptic transmission. Mutations in SHANKs reflect their importance to synapse development and plasticity. This is evident in autism spectrum disorder (ASD), a neurodevelopmental disorder resulting in behavioural changes including repetitive behaviours, lack of sociability, sensory issues, learning, and language impairments. Human genetic studies have revealed ASD mutations commonly occur in SHANKs. Rodent models expressing these mutations display ASD behavioural impairments, and a subset of these deficits are rescued by reintroduction of Shank in adult animals, suggesting that lack of SHANK during key developmental periods can lead to permanent changes in the brain’s wiring. Here we explore the differences in synaptic function and plasticity from development onward in rodent Shank ASD models. To date the most explored brain regions, relate to the behavioural changes observed, e.g., the striatum, hippocampus, sensory, and prefrontal cortex. In addition, less-studied regions including the hypothalamus, cerebellum, and peripheral nervous system are also affected. Synaptic phenotypes include weakened but also strengthened synaptic function, with NMDA receptors commonly affected, as well as changes in the balance of excitation and inhibition especially in cortical brain circuits. The effects of shankopathies in activity-dependent brain wiring is an important target for therapeutic intervention. We therefore highlight areas of research consensus and identify remaining questions and challenges.
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19. Wang Z, Wong ICK, Man KKC. Prenatal Exposure to Antipsychotics-Handle With Caution-Reply. JAMA internal medicine. 2022; 182(3): 355-6.
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20. Westerberg B, Bäärnhielm S, Giles C, Hylén U, Holländare F, Bejerot S. An Internet Based Intervention for Adults With Autism Spectrum Disorder-A Qualitative Study of Participants Experiences. Frontiers in psychiatry. 2021; 12: 789663.
Background: Adults with autism spectrum disorder face several barriers to accessing evidence-based care, including difficulties in communicating needs, social anxiety or in traveling to a health care unit. In recent years, several forms of internet-based treatments have shown to be effective for a variety of psychiatric conditions. Internet-based treatment alternatives allow convenient and flexible formats, and therefore have the potential to increase access to health care for individuals with autism spectrum disorder. However, knowledge about how internet-based treatment features may suit the needs of individuals with autism is limited. The aim of this study was to explore the participant experiences of an internet-based intervention for adults with autism spectrum disorder. The primary focus of the investigation was on autism-specific needs in relation to the features unique to the online format. Methods: In this qualitative study, semi-structured telephone interviews were conducted with 14 participants who had completed a text-based internet-based intervention for adults with autism spectrum disorder. We used an inductive approach and analyzed the data using qualitative content analysis. Results: Five main categories were identified: (1) implications of the online format, (2) the fixed non-individualized model, (3) therapist interaction, (4) interacting with other participants, and (5) making use of the treatment content. Overall, participants appreciated the availability and that they could work on their treatment independent of time or location. Among those participating in group-based chat-sessions with the other participants, it was considered a generally positive experience. Furthermore, most participants felt safe and relaxed in relation to the therapist and appreciated the text-based format. However, several participants felt that the format and content of the treatment was not sufficiently adapted to their individual life situation. Conclusion: In conclusion, this internet-based treatment constitutes an accessible and energy-saving treatment alternative for adults with autism. Further, integrating group-based components seems feasible in an otherwise individual internet-based treatment for individuals with autism. However, group-based components do require a clear purpose and rationale. Future studies should develop and evaluate treatment adaptations tailored to individual needs.
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21. Yap SHK. Prenatal Exposure to Antipsychotics-Handle With Caution. JAMA internal medicine. 2022; 182(3): 354-5.
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22. Yu H, Qu H, Chen A, Du Y, Liu Z, Wang W. Alteration of Effective Connectivity in the Default Mode Network of Autism After an Intervention. Frontiers in neuroscience. 2021; 15: 796437.
Neuroimaging has revealed numerous atypical functional connectivity of default mode network (DMN) dedicated to social communications (SC) in autism spectrum disorder (ASD), yet their nature and directionality remain unclear. Here, preschoolers with autism received physical intervention from a 12-week mini-basketball training program (12W-MBTP). Therefore, the directionality and nature of regional interactions within the DMN after the intervention are evaluated while assessing the impact of an intervention on SC. Based on the results of independent component analysis (ICA), we applied spectral dynamic causal modeling (DCM) for participants aged 3-6 years (experimental group, N = 17, control group, N = 14) to characterize the longitudinal changes following intervention in intrinsic and extrinsic effective connectivity (EC) between core regions of the DMN. Then, we analyzed the correlation between the changes in EC and SRS-2 scores to establish symptom-based validation. We found that after the 12W-MBTP intervention, the SRS-2 score of preschoolers with ASD in the experimental group was decreased. Concurrently, the inhibitory directional connections were observed between the core regions of the DMN, including increased self-inhibition in the medial prefrontal cortex (mPFC), and the changes of EC in mPFC were significantly correlated with change in the social responsiveness scale-2 (SRS-2) score. These new findings shed light on DMN as a potential intervention target, as the inhibitory information transmission between its core regions may play a positive role in improving SC behavior in preschoolers with ASD, which may be a reliable neuroimaging biomarker for future studies. Clinical Trial Registration: This study registered with the Chinese Clinical Trial Registry (ChiCTR1900024973) on August 05, 2019.
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23. Zhang J, Lin J, Zhao X, Yao F, Feng C, He Z, Cao X, Gao Y, Khan NU, Chen M, Luo P, Shen L. Trace Element Changes in the Plasma of Autism Spectrum Disorder Children and the Positive Correlation Between Chromium and Vanadium. Biological trace element research. 2022.
Existing data demonstrate a significant correlation between autism spectrum disorder (ASD) and the status of biologically essential and toxic trace elements. However, there is still a lack of data on the steady state of trace elements in ASD. We performed a case-control study to explore the association between the risk of ASD and 23 trace elements in plasma. The results showed that children with ASD had considerably decreased lithium (Li), manganese (Mn), selenium (Se), barium (Ba), mercury (Hg), and tin (Sn) levels when compared to their age- and sex-matched controls. Meanwhile, children with ASD had considerably increased plasma chromium (Cr) and vanadium (V) concentrations. We also divided each group into subgroups based on age and gender and created element-related networks for each subgroup. We detected significant element correlations within or between subgroups, as well as changes in correlations that included all elements examined. Finally, more element correlations were observed among males, which may open a new avenue for understanding the complicated process behind the sex ratio of children with ASD. Overall, our data revealed a novel relationship between elements and ASD, which may extend current understanding about ASD.