Pubmed du 16/07/21
1. Aluko OM, Lawal SA, Ijomone OM, Aschner M. Perturbed MAPK signaling in ASD: Impact of metal neurotoxicity. Current opinion in toxicology. 2021; 26: 1-7.
The mitogen-activated protein kinase (MAPK) pathways are intracellular signaling pathways necessary for regulating various physiological processes, including neurodevelopment. The developing brain is vulnerable to toxic substances, and metals, such as lead, mercury, nickel, manganese, and others, have been proven to induce disturbances in the MAPK signaling pathway. Since a well-regulated MAPK is necessary for normal neurodevelopment, perturbation of the MAPK pathway results in neurodevelopmental disorders, including autism spectrum disorder (ASD). ASD affects brain parts responsible for communication, cognition, social interaction, and other patterned behaviors. Several studies have addressed the role of metals in the etiopathogenesis of ASD. Here, we briefly review the MAPK signaling pathway and its role in neurodevelopment. Furthermore, we highlight the role of metal toxicity in the development of ASD and how perturbed MAPK signaling may result in ASD.
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2. Balan S, Iwayama Y, Ohnishi T, Fukuda M, Shirai A, Yamada A, Weirich S, Schuhmacher MK, Dileep KV, Endo T, Hisano Y, Kotoshiba K, Toyota T, Otowa T, Kuwabara H, Tochigi M, Watanabe A, Ohba H, Maekawa M, Toyoshima M, Sasaki T, Nakamura K, Tsujii M, Matsuzaki H, Zhang KYJ, Jeltsch A, Shinkai Y, Yoshikawa T. A loss-of-function variant in SUV39H2 identified in autism-spectrum disorder causes altered H3K9 trimethylation and dysregulation of protocadherin β-cluster genes in the developing brain. Molecular psychiatry. 2021; 26(12): 7550-9.
Recent evidence has documented the potential roles of histone-modifying enzymes in autism-spectrum disorder (ASD). Aberrant histone H3 lysine 9 (H3K9) dimethylation resulting from genetic variants in histone methyltransferases is known for neurodevelopmental and behavioral anomalies. However, a systematic examination of H3K9 methylation dynamics in ASD is lacking. Here we resequenced nine genes for histone methyltransferases and demethylases involved in H3K9 methylation in individuals with ASD and healthy controls using targeted next-generation sequencing. We identified a novel rare variant (A211S) in the SUV39H2, which was predicted to be deleterious. The variant showed strongly reduced histone methyltransferase activity in vitro. In silico analysis showed that the variant destabilizes the hydrophobic core and allosterically affects the enzyme activity. The Suv39h2-KO mice displayed hyperactivity and reduced behavioral flexibility in learning the tasks that required complex behavioral adaptation, which is relevant for ASD. The Suv39h2 deficit evoked an elevated expression of a subset of protocadherin β (Pcdhb) cluster genes in the embryonic brain, which is attributable to the loss of H3K9 trimethylation (me3) at the gene promoters. Reduced H3K9me3 persisted in the cerebellum of Suv39h2-deficient mice to an adult stage. Congruently, reduced expression of SUV39H1 and SUV39H2 in the postmortem brain samples of ASD individuals was observed, underscoring the role of H3K9me3 deficiency in ASD etiology. The present study provides direct evidence for the role of SUV39H2 in ASD and suggests a molecular cascade of SUV39H2 dysfunction leading to H3K9me3 deficiency followed by an untimely, elevated expression of Pcdhb cluster genes during early neurodevelopment.
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3. Bavykina IA, Popov VI, Zvyagin AA, Bavykin DV. [Gliadomorphin, casomorphin, and intestinal fatty acid binding protein in children with autism spectrum disorders]. Voprosy pitaniia. 2021; 90(3): 20-7.
Diet therapy for autism spectrum disorders (ASD) remains one of the most popular alternative therapies. despite conflicting opinions regarding the effectiveness of the dietary approach. According to the theory of exorphin intoxication, gluten and casein peptides enter the bloodstream through the mucous membrane of the small intestine, penetrate the blood-brain barrier and affect the neurons of the cerebral cortex. The wellknown hypothesis of the relationship between autism and gluten intolerance is based on this theory. The aim of this work was to study the correlation between the blood concentration of intestinal fatty acid – binding protein (I-FABP) and gliadomorphin and casomorphin as markers of opioid intoxication, depending on the use of diet therapy in children with ASD. Material and methods. The study included 85 patients aged 3 to 15 years with an established diagnosis of ASD. The first group consisted of 36 children who followed a gluten-free diet (GFD) for at least 6 months, 3 of them also followed a casein-free diet (CFD), the second group included 49 patients with ASD who had no dietary restrictions. The concentration of I-FABP, gliadomorphin, and casomorphin in the blood serum was determined by enzyme immunoassay in all patients. Results. In children with ASD who followed GDD, the average values of the studied parameters were significantly lower than in patients with ASD who have no dietary restrictions: gliadomorphine – 0.98±1.27 vs 1.68±0.97 ng/ml, casomorphine – 1.62± 0.76 vs 2.37±0.53 pg/ml, I-FABP – 156.2±102.16 vs 528.26±255.95 pg/ml (p0.01). In patients with ASD using diet therapy, there was a significant increase in gliadomorifin (r=0.64, p=0.0001) and casomorphin (r=0.53, p=0.001) with an increase in I-FABP. In children with ASD, not adhering GFD, there was also an increase in blood gliadomorphin (r=0.30, p=0.036) with an increase in I-FABP level; this trend was not observed relative to casomorphin (r=-0.0050, p=0.973). Perhaps, with the expansion of the sample, this pattern will also be observed in children who are on a regular diet. Conclusion. When including diet therapy in the therapeutic treatment of autism, it is necessary to take into account the individual intolerance to gluten and casein, conduct additional examinations in order to specify the nature of the intolerance and the need to prescribe a diet.
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4. Chang LY, Lin YH, Lin SJ, Chiang TL. Cohort Profile: Taiwan Birth Cohort Study (TBCS). International journal of epidemiology. 2021; 50(5): 1430-1i.
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5. De Giacomo A, Craig F, Palermo G, Coppola A, Margari M, Campanozzi S, Margari L, Turi M. Differential Diagnosis in Children with Autistic Symptoms and Subthreshold ADOS Total Score: An Observational Study. Neuropsychiatric disease and treatment. 2021; 17: 2163-72.
BACKGROUND: Children with autism spectrum disorder (ASD) share some symptoms with children with other neurodevelopmental disorders (ie, intellectual disability or communication disorders or language disorders). These similarities can make difficult to obtain an accurate diagnosis, which is essential to give targeted treatments to the patients. We aim to verify in our study if children with autistic traits who undergo to Autism Diagnostic Observation Schedule had specific clinical diagnosis. PATIENTS AND METHODS: We selected 73 children tested with ADOS-G or ADOS-2, for the presence of autistic symptoms. The whole sample did not reach the cut-off of ADOS and did not receive the ASD diagnosis, according to DSM-5. RESULTS: Results of this study showed that in order of frequency and early diagnosis, communication disorders (CD), mild intellectual disability (mID) and the attention deficit hyperactivity disorders (ADHD) represent the most common final clinical diagnosis in children with autistic traits. CONCLUSION: Our results showed as the CD was the common diagnosis of these children and that often associated with younger age. Moreover, analyses of ADOS domains and the difference of individual items between groups did not show the capacity to differentiate between different neurodevelopmental disorders in terms of differential diagnosis, and this confirms the need for integrating multiple sources of information during the diagnostic process.
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6. Doenyas C, Shohieb SM. Leveraging Technology for the Wellbeing of Individuals With Autism Spectrum Disorder and Their Families During Covid-19. Frontiers in psychiatry. 2021; 12: 566809.
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7. Gokhale A, Lee CE, Zlatic SA, Freeman AAH, Shearing N, Hartwig C, Ogunbona O, Bassell JL, Wynne ME, Werner E, Xu C, Wen Z, Duong D, Seyfried NT, Bearden CE, Oláh VJ, Rowan MJM, Glausier JR, Lewis DA, Faundez V. Mitochondrial Proteostasis Requires Genes Encoded in a Neurodevelopmental Syndrome Locus. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2021; 41(31): 6596-616.
Eukaryotic cells maintain proteostasis through mechanisms that require cytoplasmic and mitochondrial translation. Genetic defects affecting cytoplasmic translation perturb synapse development, neurotransmission, and are causative of neurodevelopmental disorders, such as Fragile X syndrome. In contrast, there is little indication that mitochondrial proteostasis, either in the form of mitochondrial protein translation and/or degradation, is required for synapse development and function. Here we focus on two genes deleted in a recurrent copy number variation causing neurodevelopmental disorders, the 22q11.2 microdeletion syndrome. We demonstrate that SLC25A1 and MRPL40, two genes present in the microdeleted segment and whose products localize to mitochondria, interact and are necessary for mitochondrial ribosomal integrity and proteostasis. Our Drosophila studies show that mitochondrial ribosome function is necessary for synapse neurodevelopment, function, and behavior. We propose that mitochondrial proteostasis perturbations, either by genetic or environmental factors, are a pathogenic mechanism for neurodevelopmental disorders.SIGNIFICANCE STATEMENT The balance between cytoplasmic protein synthesis and degradation, or cytoplasmic proteostasis, is required for normal synapse function and neurodevelopment. Cytoplasmic and mitochondrial ribosomes are necessary for two compartmentalized, yet interdependent, forms of proteostasis. Proteostasis dependent on cytoplasmic ribosomes is a well-established target of genetic defects that cause neurodevelopmental disorders, such as autism. Here we show that the mitochondrial ribosome is a neurodevelopmentally regulated organelle whose function is required for synapse development and function. We propose that defective mitochondrial proteostasis is a mechanism with the potential to contribute to neurodevelopmental disease.
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8. Goldfarb Y, Golan O, Gal E. A Self-Determination Theory Approach to Work Motivation of Autistic Adults: A Qualitative Exploratory Study. Journal of autism and developmental disorders. 2021: 1-14.
The study explores work motivation of autistic adults through the lens of Self-Determination Theory (SDT). Twelve autistic employees (ages 28-47; 3 females) participated in semi-structured qualitative interviews about their work experience. Analysis combined inductive and deductive approaches, identifying motivational themes emerging from the interviews, and analyzing them according to SDT concepts. Two major themes emerged: (1) work motivation factors positioned on the self-determination continuum: income and self-reliance; a daily routine; social/familial internalized norms; meaning and contribution; and job interest; and (2) satisfaction of psychological needs at work, postulated by SDT: competence, social-relatedness, and autonomy and structure. Findings are discussed in relation to current literature, and practical applications are suggested for meeting the motivational needs of autistic employees and promoting employment stability.
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9. Kabasakal E, Özpulat F, Bakır E. Analysis of the Nutrition, Self-Care Skills, and Health Professional Support in Schools of Children with Autism Spectrum Disorder. Florence Nightingale journal of nursing. 2021; 29(2): 239-49.
AIM: This study aimed to determine the nutrition, self-care skills, and health professional support of children with autism spectrum disorder. METHOD: This is a descriptive and cross-sectional study. The parents of 82 children with autism spectrum disorder agreed to participate as part of a study group in 8 special education schools in 3 districts. The schools were selected on the basis of their levels of sociodemographic development. The data were collected and analysed between September 2016 and July 2017 using a two-section questionnaire developed after a literature review. RESULTS: The majority of the parents (63.4%) had sufficient knowledge with regard to autism spectrum disorder, but the issues that were most lacking in terms of education were care, nutrition, and skills related to daily living (36.2%). The parents wanted to be educated on « nutrition problems, » and « activities of daily living. » The majority of the children lacked self-care skills (82.9%). CONCLUSION: The most frequently observed nutrition problem in children with autism spectrum disorder was selective eating. In line with the literature, the majority of the children in this study were found to be unable to care for themselves. School nurses can provide support in terms of nutrition and self-care skills in these schools. School health education programmes for parents can be developed to allow for the more rapid and effective resolution of nutrition and self-care problems.
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10. Lai ESK, Nakayama H, Miyazaki T, Nakazawa T, Tabuchi K, Hashimoto K, Watanabe M, Kano M. An Autism-Associated Neuroligin-3 Mutation Affects Developmental Synapse Elimination in the Cerebellum. Frontiers in neural circuits. 2021; 15: 676891.
Neuroligin is a postsynaptic cell-adhesion molecule that is involved in synapse formation and maturation by interacting with presynaptic neurexin. Mutations in neuroligin genes, including the arginine to cystein substitution at the 451st amino acid residue (R451C) of neuroligin-3 (NLGN3), have been identified in patients with autism spectrum disorder (ASD). Functional magnetic resonance imaging and examination of post-mortem brain in ASD patients implicate alteration of cerebellar morphology and Purkinje cell (PC) loss. In the present study, we examined possible association between the R451C mutation in NLGN3 and synaptic development and function in the mouse cerebellum. In NLGN3-R451C mutant mice, the expression of NLGN3 protein in the cerebellum was reduced to about 10% of the level of wild-type mice. Elimination of redundant climbing fiber (CF) to PC synapses was impaired from postnatal day 10-15 (P10-15) in NLGN3-R451C mutant mice, but majority of PCs became mono-innervated as in wild-type mice after P16. In NLGN3-R451C mutant mice, selective strengthening of a single CF relative to the other CFs in each PC was impaired from P16, which persisted into juvenile stage. Furthermore, the inhibition to excitation (I/E) balance of synaptic inputs to PCs was elevated, and calcium transients in the soma induced by strong and weak CF inputs were reduced in NLGN3-R451C mutant mice. These results suggest that a single point mutation in NLGN3 significantly influences the synapse development and refinement in cerebellar circuitry, which might be related to the pathogenesis of ASD.
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11. Matthews EJ, Puplampu V, Gelech JM. Tactics and Strategies of Family Adaptation among Parents Caring for Children and Youth with Developmental Disabilities. Global qualitative nursing research. 2021; 8: 23333936211028184.
The stressors experienced by families caring for children and youth with developmental disabilities (DD) impact quality of life for all family members. Families employ creative practices to cope and thrive in the midst of such challenges. This study sought to understand the adaptive practices, tactics, and strategies engaged in by parents. We interviewed 39 parents of 46 children and youth with DD in Canada. Thematic analysis elucidated three categories of adaptations and twelve tactics and strategic actions at three ecological levels: within the system-adapting with everyday tactics and strategies; within our family-constructing spaces of care; within myself-adjusting perceptions of adversity. Our critical interpretation highlights an ecology of parental labor across varying psychosocial and health care service contexts in which parents strive to make a good life for their children and families. Nurses can empower and enhance their well-being by conducting holistic assessments and targeted family nursing interventions.
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12. McNeil K, Hennen B, Joyce M, Marshall EG. Health check guidelines and billing for family physicians caring for adults with intellectual and developmental disabilities: Incentives to improve care. Canadian family physician Medecin de famille canadien. 2021; 67(7): e197-e201.
OBJECTIVE: To examine the degree to which Canadian consensus guideline recommendations for annual comprehensive preventive care assessments of adults with intellectual and developmental disabilities (IDD) are being taken up by Nova Scotia family physicians since the introduction of incentive billing codes; and to discuss the importance of complete physical examinations for this patient population, extra time needed in clinic encounters, and challenges for practitioners providing care. DESIGN: Analysis of family physicians’ billing of codes 03.04C and 03.03E from April 2012 to December 2016. SETTING: Nova Scotia. PARTICIPANTS: Family physicians. MAIN OUTCOME MEASURES: Number of billings through fee-for-service and alternative payment plans, and number of providers who used these fee codes. RESULTS: Analysis yielded 3 key results. Use of incentivized billing codes for adult IDD visits and complete examinations in Nova Scotia has steadily increased for patients since the introduction of the modified codes. There is measurable uptake of the IDD adult visit code in total numbers and numbers of providers billing the code. There is poor uptake of the complete examination code. CONCLUSION: Enhanced billing codes will provide Nova Scotia family physicians with an incentive to employ the newly revised 2018 Canadian consensus guidelines in the care of adults with IDDs. With continued discussion and promotion of annual physical examinations for patients with IDD, more patients and caregivers might make this proactive care item a priority. Publisher: Abstract available from the publisher. fre.
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13. Nisticò V, Faggioli R, Bertelli S, Priori A, Gambini O, Demartini B. Eating disturbances in eating disorders and in high-functioning autism spectrum disorders: a preliminary study. Eating and weight disorders : EWD. 2021.
PURPOSE: The relationship between autism spectrum disorders (ASDs) and eating disorders (EDs) has been widely studied in the last decades. We aimed to directly compare patients with EDs, individuals with high-functioning ASDs (HF-ASDs) and healthy controls (HC) at measures detecting: (1) symptoms of eating disorders, (2) eating disturbances known to be characteristic of autism. METHODS: Thirty-four patients with EDs, 34 individuals with HF-ASDs and 35 HC, all females, completed the eating attitude test (EAT-26) and the Swedish eating assessment for autism spectrum disorders (SWEAA), two self-report questionnaires assessing, respectively, symptoms and concerns characteristic of eating disorders and ASD-related eating disturbances. RESULTS: At the EAT-26, patients with EDs scored significantly higher than individuals with HF-ASDs, and both of them scored higher than HC (p < 0.05, η(p)(2) = 0.283). Conversely, at the SWEAA, no differences between individuals with HF-ASDs and patients with EDs emerged (p = 901), but they both scored higher than HC (p < 0.05, η(p)(2) = 0.247). CONCLUSION: Individuals with HF-ASDs did not seem to reach the same level of EDs symptomatology as patients with EDs. Patients with EDs did not seem to present a different amount of autistic-eating behaviours than subjects with HF-ASDs. Patients with EDs and individuals with HF-ASDs scored higher than HC at both scales. Our results give further preliminary evidence of the overlap between autistic traits and EDs symptomatology, and should be taken into account in the definition of a shared model between EDs and ASDs. LEVEL OF EVIDENCE: Level II; Evidence obtained from controlled trial without randomization.
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14. Pavlova MA, Galli J, Zanetti F, Pagani F, Micheletti S, Rossi A, Sokolov AN, Fallgatter AJ, Fazzi EM. Social cognition in individuals born preterm. Scientific reports. 2021; 11(1): 14448.
Faces hold a substantial value for effective social interactions and sharing. Covering faces with masks, due to COVID-19 regulations, may lead to difficulties in using social signals, in particular, in individuals with neurodevelopmental conditions. Daily-life social participation of individuals who were born preterm is of immense importance for their quality of life. Here we examined face tuning in individuals (aged 12.79 ± 1.89 years) who were born preterm and exhibited signs of periventricular leukomalacia (PVL), a dominant form of brain injury in preterm birth survivors. For assessing the face sensitivity in this population, we implemented a recently developed experimental tool, a set of Face-n-Food images bordering on the style of Giuseppe Arcimboldo. The key benefit of these images is that single components do not trigger face processing. Although a coarse face schema is thought to be hardwired in the brain, former preterms exhibit substantial shortages in the face tuning not only compared with typically developing controls but also with individuals with autistic spectrum disorders. The lack of correlations between the face sensitivity and other cognitive abilities indicates that these deficits are domain-specific. This underscores impact of preterm birth sequelae for social functioning at large. Comparison of the findings with data in individuals with other neurodevelopmental and neuropsychiatric conditions provides novel insights into the origins of deficient face processing.
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15. Payán-Gómez C, Ramirez-Cheyne J, Saldarriaga W. Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype. The application of clinical genetics. 2021; 14: 305-12.
Fragile X syndrome (FXS), is an X-linked inherited genetic disease. FXS is the leading cause of inherited intellectual disability and autism in the world. Those affected are characterized by intellectual disability, language deficit, typical facies, and macroorchidism. Alterations in the FMR1 gene have been associated with FXS. The majority of people with this condition have an allele with an expansion of more than 200 repeats in a tract of CGGs within the 5′ untranslated region, and this expansion is associated with a hypermethylated state of the gene promoter. FXS has incomplete penetrance and variable expressivity. Intellectual disability is present in 100% of males and 60% of females. Autism spectrum disorder symptoms appear in 50% to 60% of males and 20% of females. Other characteristics such as behavioral and physical alterations have significant variations in presentation frequency. The molecular causes of the variable phenotype in FXS patients are becoming clear: these causes are related to the FMR1 gene itself and to secondary, modifying gene effects. In FXS patients, size and methylation mosaicisms are common. Secondary to mosaicism, there is a variation in the quantity of FMR1 mRNA and the protein coded by the gene Fragile Mental Retardation Protein (FMRP). Potential modifier genes have also been proposed, with conflicting results. Characterizing patients according to CGG expansion, methylation status, concentration of mRNA and FMRP, and genotypification for possible modifier genes in a clinical setting offers an opportunity to identify predictors for treatment response evaluation. When intervention strategies become available to modulate the course of the disease they could be crucial for selecting patients and identifying the best therapeutic intervention. The purpose of this review is to present the information available about the molecular causes of the variability of the expression incomplete penetrance and variable expressivity in FXS and their potential clinical applications.
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16. Román V, Adham N, Foley AG, Hanratty L, Farkas B, Lendvai B, Kiss B. Cariprazine alleviates core behavioral deficits in the prenatal valproic acid exposure model of autism spectrum disorder. Psychopharmacology. 2021; 238(9): 2381-92.
RATIONALE: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication and interaction and restricted, repetitive behaviors. The unmet medical need in ASD is considerable since there is no approved pharmacotherapy for the treatment of these deficits in social communication, interaction, and behavior. Cariprazine, a dopamine D(3)-preferring D(3)/D(2) receptor partial agonist, is already approved for the treatment of schizophrenia and bipolar I disorder in adults; investigation in patients with ASD is warranted. OBJECTIVES: The aim of this study was to investigate the effects of cariprazine, compared with risperidone and aripiprazole, in the rat prenatal valporic acid (VPA) exposure model on behavioral endpoints representing the core and associated symptoms of ASD. METHODS: To induce the ASD model, time-mated Wistar rat dams were treated with VPA during pregnancy. Male offspring were assigned to groups and studied in a behavioral test battery at different ages, employing social play, open field, social approach-avoidance, and social recognition memory tests. Animals were dosed orally, once a day for 8 days, with test compounds (cariprazine, risperidone, aripiprazole) or vehicle before behavioral assessment. RESULTS: Cariprazine showed dose-dependent efficacy on all behavioral endpoints. In the social play paradigm, only cariprazine was effective. On the remaining behavioral endpoints, including the reversal of hyperactivity, risperidone and aripiprazole displayed similar efficacy to cariprazine. CONCLUSIONS: In the present study, cariprazine effectively reversed core behavioral deficits and hyperactivity present in juvenile and young adult autistic-like rats. These findings indicate that cariprazine may be useful in the treatment of ASD symptoms.
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17. Sahito AM, Khatri G, Abbasi WA. Genetic Overlap Between ADHD and Autism and Biochemical Factors Affecting It [Letter]. Psychology research and behavior management. 2021; 14: 945-6.
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18. Squarcina L, Nosari G, Marin R, Castellani U, Bellani M, Bonivento C, Fabbro F, Molteni M, Brambilla P. Automatic classification of autism spectrum disorder in children using cortical thickness and support vector machine. Brain and behavior. 2021; 11(8): e2238.
OBJECTIVE: Autism spectrum disorder (ASD) is a neurodevelopmental condition with a heterogeneous phenotype. The role of biomarkers in ASD diagnosis has been highlighted; cortical thickness has proved to be involved in the etiopathogenesis of ASD core symptoms. We apply support vector machine, a supervised machine learning method, in order to identify specific cortical thickness alterations in ASD subjects. METHODS: A sample of 76 subjects (9.5 ± 3.4 years old) has been selected, 40 diagnosed with ASD and 36 typically developed subjects. All children underwent a magnetic resonance imaging (MRI) examination; T1-MPRAGE sequences were analyzed to extract features for the characterization and parcellation of regions of interests (ROI); average cortical thickness (CT) has been measured for each ROI. For the classification process, the extracted features were used as input for a classifier to identify ASD subjects through a « learning by example » procedure; the features with best performance was then selected by « greedy forward-feature selection. » Finally, this model underwent a leave-one-out cross-validation approach. RESULTS: From the training set of 68 ROIs, five ROIs reached accuracies of over 70%. After this phase, we used a recursive feature selection process in order to identify the eight features with the best accuracy (84.2%). CT resulted higher in ASD compared to controls in all the ROIs identified at the end of the process. CONCLUSION: We found increased CT in various brain regions in ASD subjects, confirming their role in the pathogenesis of this condition. Considering the brain development curve during ages, these changes in CT may normalize during development. Further validation on a larger sample is required.
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19. Tung R, Reiter MA, Linke A, Kohli JS, Kinnear MK, Müller RA, Carper RA. Functional connectivity within an anxiety network and associations with anxiety symptom severity in middle-aged adults with and without autism. Autism research : official journal of the International Society for Autism Research. 2021; 14(10): 2100-12.
Anxiety is highly prevalent in autism spectrum disorders (ASDs). However, few functional magnetic resonance imaging (fMRI) studies of ASDs have focused on anxiety (and fewer still on anxiety in middle-aged adults). Thus, relationships between atypical connectivity and anxiety in this population are poorly understood. The current study contrasted functional connectivity within anxiety network regions across adults (40-64 years) with and without autism, and tested for group by functional connectivity interactions on anxiety. Twenty-two adults with ASDs (16 males) and 26 typical control (TC) adults (22 males) completed the Beck Anxiety Inventory and a resting-state fMRI scan. An anxiety network consisting of 12 regions of interest was defined, based on a meta-analysis in TC individuals and two studies on anxiety in ASDs. We tested for main effects of group and group by anxiety interactions on connectivity within this anxiety network, controlling for head motion using ANCOVA. Results are reported at an FDR adjusted threshold of q < 0.1 (corrected) and p < 0.05 (uncorrected). Adults with ASDs showed higher anxiety and underconnectivity within the anxiety network, mostly involving bilateral insula. Connectivity within the anxiety network in the ASD group showed distinct relationships with anxiety symptoms that did not relate to ASD symptom severity. Functional connectivity involving the bilateral posterior insula was positively correlated with anxiety in the ASD (but not the TC) group. Increased anxiety in middle-aged adults with ASD is associated with atypical functional connectivity, predominantly involving bilateral insula. Results were not related to ASD symptom severity suggesting independence of anxiety-related effects. LAY SUMMARY: Anxiety is very common in adults with autism but the brain basis of this difference is not well understood. We compared functional connectivity between anxiety-related brain regions in middle-aged adults with and without autism. Adults with autism were more anxious and showed weaker functional connections between these regions. Some relationships between functional connectivity and higher anxiety were specific to the autism group. Results suggest that anxiety functions differently in autism.
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20. Yang HX, Zhou HY, Wei Z, Wan GB, Wang Y, Wang YY, Yang TX, Lui SSY, Chan RCK. Multidimensional Interoception and Autistic Traits Across life Stages: Evidence From a Novel Eye-tracking Task. Journal of autism and developmental disorders. 2021.
Interoception is believed to underlie socio-cognitive functions which are often impaired in individuals with autism spectrum disorders (ASD). In this study, Experiment 1 examined in a sample of 114 neurotypical college students the associations among autistic traits, alexithymia, and interoceptive accuracy (IA), which was assessed by a novel paradigm « Eye-tracking Interoceptive Accuracy Task (EIAT). In Experiment 2, EIAT and the Autism Spectrum Quotient were administered to 52 preschool children, 50 adolescents, and 50 adults. Experiment 1 supported the association between autistic traits and alexithymia, but failed to support their association with multidimensional interoception. Experiment 2 strongly supported the association between age and IA. We conclude that cardiac IA differs between neurotypical age groups, but shows limited relationship with autistic traits.
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21. Young E, Milligan K, Henze M, Johnson S, Weyman K. Caregiver burnout, gaps in care, and COVID-19: Effects on families of youth with autism and intellectual disability. Canadian family physician Medecin de famille canadien. 2021; 67(7): 506-8.
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22. Zambrelli E, Lividini A, Spadavecchia S, Turner K, Canevini MP. Effects of Supplementation With Antioxidant Agents on Sleep in Autism Spectrum Disorder: A Review. Frontiers in psychiatry. 2021; 12: 689277.
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition, whose etiology remains poorly understood in most cases. Several genetic, epigenetic and environmental factors have been implicated in ASD pathogenesis and numerous studies have provided evidences for increased levels of oxidative stress and reduced antioxidant capacity in patients with ASD. Recent clinical trials explored supplementation with antioxidant agents as a potential therapeutic strategy for ASD, investigating the impact of this treatment on behavioral symptoms and on most common comorbidities of the disease, including sleep disturbances. Among all medical conditions associated to ASD, sleep problems are highly prevalent and are supposed to be positively related to the severity of the disease. Moreover, studies on animal models support the hypothesis of a relationship between oxidative stress and sleep deprivation. The aim of this review is to summarize the current state of the literature on the effect of antioxidant treatment on sleep disturbances in patients with ASD. Twenty-one articles were included in final synthesis. Of them, 15 studies involved Melatonin, 1 Tryptophan and 5 focused on supplementation with other antioxidant agents (namely Coenzyme Q10, L-Carnosine, Luteolin and Quercetin). Despite the high prevalence of comorbid sleep troubles in ASD, there is a paucity of data on the efficacy of antioxidant agents in those patients. Further research is needed to better define the role of antioxidants agents as adjunctive therapy in the management sleep disorders in children and adolescents affected with ASD.
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23. Zhu J, Hua X, Yang T, Guo M, Li Q, Xiao L, Li L, Chen J, Li T. Alterations in Gut Vitamin and Amino Acid Metabolism are Associated with Symptoms and Neurodevelopment in Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021.
Metabolic disturbance may be implicated in the pathogenesis of autism. This study aimed to investigate the gut metabolomic profiles of autistic children and to analyze potential interaction between gut metabolites with autistic symptoms and neurodevelopment levels. We involved 120 autistic and 60 neurotypical children. Autistic symptoms and neurodevelopment levels were assessed. Fecal samples were analyzed using untargeted liquid chromatography-tandem mass spectrometry methods. Our results showed the metabolic disturbances of autistic children involved in multiple vitamin and amino acid metabolism pathways, with the strongest enrichment identified for tryptophan metabolism, retinol metabolism, cysteine-methionine metabolism, and vitamin digestion and absorption. Differential gut metabolites were correlated to autistic symptoms and neurodevelopment levels. Our findings improved the understanding of the perturbations of metabolome networks in autism.