Pubmed du 16/03/21

mardi 16 mars 2021

1. Aishworiya R, Goh TJ, Sung M, Tay SKH. Correlates of adaptive skills in children with autism spectrum disorder. Autism. 2021 : 1362361321997287.

Despite improving services and care for individuals with autism spectrum disorder, functional outcomes such as daily living skills tend to be suboptimal for many. This study wanted to identify modifiable early intervention factors that are associated with better outcomes and possible high-risk groups of children who are at risk of poorer outcomes. Participants included 193 children aged between 5 and 12 years of age whose parents provided information on their family background and early intervention characteristics. These children also had their adaptive behaviour skills examined by formal testing. Results indicated that shorter wait time for early intervention was associated with better adaptive behaviour scores. Children from families with financial difficulties and lower paternal education were also at risk of poorer adaptive skills. Designing services for children with autism such that wait times to enter early intervention services are minimised following initial diagnosis can improve their eventual functional outcomes. Changes in healthcare policy to allow expedited entry or targeted intervention to children from low socio-economic status families can also enhance their eventual adaptive skill gains.

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2. Amar M, Pramod AB, Yu NK, Herrera VM, Qiu LR, Moran-Losada P, Zhang P, Trujillo CA, Ellegood J, Urresti J, Chau K, Diedrich J, Chen J, Gutierrez J, Sebat J, Ramanathan D, Lerch JP, Yates JR, 3rd, Muotri AR, Iakoucheva LM. Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling. Mol Psychiatry. 2021.

E3-ubiquitin ligase Cullin3 (Cul3) is a high confidence risk gene for autism spectrum disorder (ASD) and developmental delay (DD). To investigate how Cul3 mutations impact brain development, we generated a haploinsufficient Cul3 mouse model using CRISPR/Cas9 genome engineering. Cul3 mutant mice exhibited social and cognitive deficits and hyperactive behavior. Brain MRI found decreased volume of cortical regions and changes in many other brain regions of Cul3 mutant mice starting from early postnatal development. Spatiotemporal transcriptomic and proteomic profiling of embryonic, early postnatal and adult brain implicated neurogenesis and cytoskeletal defects as key drivers of Cul3 functional impact. Specifically, dendritic growth, filamentous actin puncta, and spontaneous network activity were reduced in Cul3 mutant mice. Inhibition of small GTPase RhoA, a molecular substrate of Cul3 ligase, rescued dendrite length and network activity phenotypes. Our study identified defects in neuronal cytoskeleton and Rho signaling as the primary targets of Cul3 mutation during brain development.

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3. Barkocy M, Schilz J, Heimerl S, Chee M, Valdez M, Redmond K. The Effectiveness of Serial Casting and Ankle Foot Orthoses in Treating Toe Walking in Children With Autism Spectrum Disorder. Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association. 2021.

PURPOSE : This proof of concept study examined the effectiveness of serial casting (SC) and ankle foot orthoses (AFOs) in children with autism spectrum disorder (Ch-ASD) who toe walk (TW). Data collected determined effects of SC, followed by AFO intervention on ankle dorsiflexion (A-DF) passive range of motion and kinematics, and parent-reported functional outcomes for children with autism spectrum disorder who TW and have limited A-DF passive range of motion. SUMMARY OF KEY POINTS : The 5 participants increased passive range of motion with SC, except for 1 participant’s left ankle. Two of 4 participants had near typical A-DF kinematic patterns following SC. The 5 participants improved A-DF during walking following 6 months of AFO use. CONCLUSIONS : Serial casting increased A-DF ROM and kinematics during walking. Consistent AFO use for walking training improved function and reduced toe walking. Serial casting followed by AFOs is a potential intervention for children with autism spectrum disorder who TW.

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4. Bono LK, Haverkamp CR, Lindsey RA, Freedman RN, McClain MB, Simonsmeier V. Assessing Interdisciplinary Trainees’ Objective and Self-Reported Knowledge of Autism Spectrum Disorder and Confidence in Providing Services. J Autism Dev Disord. 2021.

The importance of accurate identification and high-quality intervention for individuals with autism spectrum disorder (ASD) is indisputable. Clinicians from multiple professions need adequate knowledge of ASD to make appropriate referrals to specialists, conduct thorough evaluations, and provide effective interventions. ASD knowledge development for many professionals may start at the pre-service training level. An interdisciplinary sample consisting of trainees from Leadership Education in Neurodevelopmental and Related Disabilities (LEND) programs and University Centers for Excellence in Developmental Disabilities (UCEDDs) across the country (N = 155) was evaluated on their objectively measured ASD knowledge using the ASKSP-R. Self-reported knowledge of ASD and self-reported confidence in providing services to individuals who have ASD was evaluated using a 0-100 scale. Results from an ANOVA demonstrated a significant difference in objectively measured knowledge across disciplines, F(7, 146) = 4.68, p < .001. Specifically, trainees in psychology had significantly higher levels of objectively measured ASD knowledge than trainees in physical/occupational therapy, social work, and non-clinical disciplines. Pre-service and professional development experiences predicted trainees’ objectively measured ASD knowledge, self-reported ASD knowledge, and self-reported confidence. Implications and recommendations regarding interdisciplinary training to improve outcomes for individuals with ASD are discussed.

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5. Costa C, Cristea IA, Dal Bò E, Melloni C, Gentili C. Brain activity during facial processing in autism spectrum disorder : an activation likelihood estimation (ALE) meta-analysis of neuroimaging studies. J Child Psychol Psychiatry. 2021.

BACKGROUND : Though aberrant face processing is a hallmark of autistic spectrum disorder (ASD), findings on accompanying brain activity are divergent. Therefore, we conducted an activation likelihood estimation (ALE) meta-analysis of studies examining brain activity during face processing. METHODS : We searched PubMed and PsycINFO using combinations of terms as ’fMRI’, ’Autism Spectrum Disorder’, ’Face Perception’. Eligible studies reported on DSM-diagnosed ASD individuals, compared to controls (HC), using face stimuli presented in fMRI and reporting whole-brain analysis coordinates. We compared two approaches : ’convergence of differences’ (primary analysis) using study-level coordinates from ASD vs. HC contrasts, and ’differences in convergence’ (secondary) pooling coordinates within each group separately, and contrasting the resultant ALE maps. RESULTS : Thirty-five studies (655 ASD and 668 HC) were included. Primary analysis identified a cluster in amygdala/parahippocampus where HC showed greater convergence of activation. Secondary analysis yielded no significant results. CONCLUSIONS : Results suggest that ASD dysfunction in face processing relies on structures involved in emotional processing rather than perception. We also demonstrate that the two ALE methodologies lead to divergent results.

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6. Duville MM, Alonso-Valerdi LM, Ibarra-Zarate DI. Electroencephalographic Correlate of Mexican Spanish Emotional Speech Processing in Autism Spectrum Disorder : To a Social Story and Robot-Based Intervention. Front Hum Neurosci. 2021 ; 15 : 626146.

Socio-emotional impairments are key symptoms of Autism Spectrum Disorders. This work proposes to analyze the neuronal activity related to the discrimination of emotional prosodies in autistic children (aged 9 to 11-year-old) as follows. Firstly, a database for single words uttered in Mexican Spanish by males, females, and children will be created. Then, optimal acoustic features for emotion characterization will be extracted, followed of a cubic kernel function Support Vector Machine (SVM) in order to validate the speech corpus. As a result, human-specific acoustic properties of emotional voice signals will be identified. Secondly, those identified acoustic properties will be modified to synthesize the recorded human emotional voices. Thirdly, both human and synthesized utterances will be used to study the electroencephalographic correlate of affective prosody processing in typically developed and autistic children. Finally, and on the basis of the outcomes, synthesized voice-enhanced environments will be created to develop an intervention based on social-robot and Social Story(TM) for autistic children to improve affective prosodies discrimination. This protocol has been registered at BioMed Central under the following number : ISRCTN18117434.

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7. Eldeeb S, Susam BT, Akcakaya M, Conner CM, White SW, Mazefsky CA. Trial by trial EEG based BCI for distress versus non distress classification in individuals with ASD. Sci Rep. 2021 ; 11(1) : 6000.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is often accompanied by impaired emotion regulation (ER). There has been increasing emphasis on developing evidence-based approaches to improve ER in ASD. Electroencephalography (EEG) has shown success in reducing ASD symptoms when used in neurofeedback-based interventions. Also, certain EEG components are associated with ER. Our overarching goal is to develop a technology that will use EEG to monitor real-time changes in ER and perform intervention based on these changes. As a first step, an EEG-based brain computer interface that is based on an Affective Posner task was developed to identify patterns associated with ER on a single trial basis, and EEG data collected from 21 individuals with ASD. Accordingly, our aim in this study is to investigate EEG features that could differentiate between distress and non-distress conditions. Specifically, we investigate if the EEG time-locked to the visual feedback presentation could be used to classify between WIN (non-distress) and LOSE (distress) conditions in a game with deception. Results showed that the extracted EEG features could differentiate between WIN and LOSE conditions (average accuracy of 81%), LOSE and rest-EEG conditions (average accuracy 94.8%), and WIN and rest-EEG conditions (average accuracy 94.9%).

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8. Garcia JM, Cathy BS, Garcia AV, Shurack R, Brazendale K, Leahy N, Fukuda D, Lawrence S. Transition of a Judo Program from In-Person to Remote Delivery During COVID-19 for Youth with Autism Spectrum Disorder. Adv Neurodev Disord. 2021 : 1-6.

OBJECTIVES : To examine the feasibility of a remote judo program for high school students with autism spectrum disorder (ASD) during the COVID-19 pandemic. METHODS : Nine high school students with ASD had been participating in an in-person judo program that transitioned to a livestream format once the stay-at-home orders were mandated. The students completed surveys regarding their experience with the remote sessions. Their classroom teacher completed a semi-structured interview regarding the advantages and disadvantages of the remote format. RESULTS : Eight out of the nine students attended 92% of the remote classes. All nine students reported feeling satisfied with the remote judo sessions. Reported benefits of the remote format included the structured routine during the pandemic and the opportunity for physical activity. Disadvantages included a lack of space and lack of one-on-one instruction. CONCLUSIONS : The remote judo program appeared to be both feasible and acceptable for youth with ASD.

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9. Kitagawa K, Matsumura K, Baba M, Kondo M, Takemoto T, Nagayasu K, Ago Y, Seiriki K, Hayata-Takano A, Kasai A, Takuma K, Hashimoto R, Hashimoto H, Nakazawa T. Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZ(WT/Q1038R) mouse model of autism spectrum disorder. Molecular brain. 2021 ; 14(1) : 56.

Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder characterized by core symptoms of impaired social behavior and communication. Recent studies have suggested that the oxytocin system, which regulates social behavior in mammals, is potentially involved in ASD. Mouse models of ASD provide a useful system for understanding the associations between an impaired oxytocin system and social behavior deficits. However, limited studies have shown the involvement of the oxytocin system in the behavioral phenotypes in mouse models of ASD. We have previously demonstrated that a mouse model that carries the ASD patient-derived de novo mutation in the pogo transposable element derived with zinc finger domain (POGZ(WT/Q1038R) mice), showed ASD-like social behavioral deficits. Here, we have explored whether oxytocin (OXT) administration improves impaired social behavior in POGZ(WT/Q1038R) mice and found that intranasal oxytocin administration effectively restored the impaired social behavior in POGZ(WT/Q1038R) mice. We also found that the expression level of the oxytocin receptor gene (OXTR) was low in POGZ(WT/Q1038R) mice. However, we did not detect significant changes in the number of OXT-expressing neurons between the paraventricular nucleus of POGZ(WT/Q1038R) mice and that of WT mice. A chromatin immunoprecipitation assay revealed that POGZ binds to the promoter region of OXTR and is involved in the transcriptional regulation of OXTR. In summary, our study demonstrate that the pathogenic mutation in the POGZ, a high-confidence ASD gene, impairs the oxytocin system and social behavior in mice, providing insights into the development of oxytocin-based therapeutics for ASD.

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10. Koç B, Fucile G, Schmucki R, Giroud N, Bergauer T, Hall BJ. Identification of Natural Antisense Transcripts in Mouse Brain and Their Association With Autism Spectrum Disorder Risk Genes. Front Mol Neurosci. 2021 ; 14 : 624881.

Genome-wide sequencing technologies have greatly contributed to our understanding of the genetic basis of neurodevelopmental disorders such as autism spectrum disorder (ASD). Interestingly, a number of ASD-related genes express natural antisense transcripts (NATs). In some cases, these NATs have been shown to play a regulatory role in sense strand gene expression and thus contribute to brain function. However, a detailed study examining the transcriptional relationship between ASD-related genes and their NAT partners is lacking. We performed strand-specific, deep RNA sequencing to profile expression of sense and antisense reads with a focus on 100 ASD-related genes in medial prefrontal cortex (mPFC) and striatum across mouse post-natal development (P7, P14, and P56). Using de novo transcriptome assembly, we generated a comprehensive long non-coding RNA (lncRNA) transcriptome. We conducted BLAST analyses to compare the resultant transcripts with the human genome and identified transcripts with high sequence similarity and coverage. We assembled 32861 de novo antisense transcripts mapped to 12182 genes, of which 1018 are annotated by Ensembl as lncRNA. We validated the expression of a subset of selected ASD-related transcripts by PCR, including Syngap1 and Cntnap2. Our analyses revealed that more than 70% (72/100) of the examined ASD-related genes have one or more expressed antisense transcripts, suggesting more ASD-related genes than previously thought could be subject to NAT-mediated regulation in mice. We found that expression levels of antisense contigs were mostly positively correlated with their cognate coding sense strand RNA transcripts across developmental age. A small fraction of the examined transcripts showed brain region specific enrichment, indicating possible circuit-specific roles. Our BLAST analyses identified 110 of 271 ASD-related de novo transcripts with >90% identity to the human genome at >90% coverage. These findings, which include an assembled de novo antisense transcriptome, contribute to the understanding of NAT regulation of ASD-related genes in mice and can guide NAT-mediated gene regulation strategies in preclinical investigations toward the ultimate goal of developing novel therapeutic targets for ASD.

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11. Ryu YK, Park HY, Go J, Choi DH, Choi YK, Rhee M, Lee CH, Kim KS. Sodium phenylbutyrate reduces repetitive self-grooming behavior and rescues social and cognitive deficits in mouse models of autism. Psychopharmacology. 2021.

Autism spectrum disorder (ASD) is a neurodevelopment disorder characterized by deficits in social interaction and restrictive, repetitive, and stereotypical patterns of behavior. However, there is no pharmacological drug that is currently used to target these core ASD symptoms. Sodium phenylbutyrate (NaPB) is a well-known long-term treatment of urea cycle disorders in children. In this study, we assessed the therapeutic effects of NaPB, which is a chemical chaperone as well as histone deacetylase inhibitor on a BTBR T + Itpr3tf/J (BTBR) mice model of ASD. We found that acute and chronic treatment of NaPB remarkably improved, not only core ASD symptoms, including repetitive behaviors and sociability deficit, but also cognitive impairment in the BTBR mice. NaPB substantially induced histone acetylation in the brain of the BTBR mice. Intriguingly, the therapeutic effects of NaPB on autistic-like behaviors, such as repetitive behaviors, impaired sociability, and cognitive deficit also showed in the valproic acid (VPA)-induced mouse model of autism. In addition, pentylenetetrazole (PTZ)-induced seizure was significantly attenuated by NaPB treatment in C57BL/6J and BTBR mice. These findings suggest that NaPB may provide a novel therapeutic approach for the treatment of patients with ASD.

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12. Seers K, Hogg RC. ’You don’t look autistic’ : A qualitative exploration of women’s experiences of being the ’autistic other’. Autism. 2021 : 1362361321993722.

Most autism spectrum condition research addresses the neurological and biological causes of autism spectrum condition, focusing upon deficits associated with autism spectrum condition and behavioural interventions designed to minimise these deficits. Little is known about the lived experiences of adult women on the autism spectrum and how they navigate social expectations around gender, autism spectrum condition and gendered understandings of autism spectrum condition. The lived experiences of eight women on the AS will be shared here, with attention to how gendered expectations influence women’s experiences of autism spectrum condition, their sense of self and well-being. Findings showed these women struggled to reconcile the expectations of others, particularly early in life. The women had difficultly conforming to stereotypical ideals of femininity, yet as they aged, they felt less need to conform, valuing their unique style and behaviours. The women also rejected deficit-oriented descriptions of autism spectrum condition generated by the medical community, preferring to focus on their strengths and unique characteristics. It is hoped this article helps psychologists and the wider community to understand and meet the needs of women on the AS.

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13. Tromans S, Yao G, Alexander R, Mukaetova-Ladinska E, Kiani R, Al-Uzri M, Chester V, Carr R, Morgan Z, Vounzoulaki E, Brugha T. The Prevalence of Diabetes in Autistic Persons : A Systematic Review. Clinical practice and epidemiology in mental health : CP & EMH. 2020 ; 16 : 212-25.

BACKGROUND : It has been proposed that autistic individuals are at an increased risk of type 1 and type 2 diabetes. Improved understanding of diabetes prevalence in autistic persons will help inform resource allocation for diabetes-related public health measures for this patient group. OBJECTIVE : To conduct a systematic review of published literature pertaining to type 1 and type 2 diabetes prevalence in autistic individuals, including comparison with their non-autistic peers. METHODS : Eligibility criteria included studies investigating the prevalence of diabetes in autistic individuals, as well as having been published in the English language. A systematic search of online databases (MEDLINE, PsycINFO, CINAHL, EMBASE and PubMed) was conducted on 4(th) April 2020. Additional approaches included the ancestry method, grey literature searches and expert consultation. Studies were qualitatively analysed with reporting quality appraised. RESULTS : 19 eligible studies were identified, 7 of which provided type-specific diabetes prevalence data. Of 15 studies that included a non-autistic control group, 9 reported a higher diabetes prevalence among autistic persons, with a statistically significant difference in 4 studies. Studies demonstrating a higher diabetes prevalence in autistic groups had higher average study population sizes and reporting quality ratings. CONCLUSION : It is uncertain whether diabetes is significantly more prevalent in autistic persons relative to their non-autistic peers, though larger studies suggest a trend in this direction. Nevertheless, diabetes is a significant public health issue for the autistic community, which may require a tailored approach for identification and management. Prospero database registration number : CRD42019122176.

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14. West MJ, Angwin AJ, Copland DA, Arnott WL, Nelson NL. Effects of emotional cues on novel word learning in typically developing children in relation to broader autism traits. J Child Lang. 2021 : 1-19.

Emotion can influence various cognitive processes. Communication with children often involves exaggerated emotional expressions and emotive language. Children with autism spectrum disorder often show a reduced tendency to attend to emotional information. Typically developing children aged 7 to 9 years who varied in their level of autism-like traits learned the nonsense word names of nine novel toys, which were presented with either happy, fearful, or neutral emotional cues. Emotional cues had no influence on word recognition or recall performance. Eye-tracking data showed differences in visual attention depending on the type of emotional cues and level of autism-like traits. The findings suggest that the influence of emotion on attention during word learning differs according to whether the children have lower or higher levels of autism-like traits, but this influence does not affect word learning outcomes.

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15. Żebrowska P, Łaczmańska I, Łaczmański Ł. Future Directions in Reducing Gastrointestinal Disorders in Children With ASD Using Fecal Microbiota Transplantation. Frontiers in cellular and infection microbiology. 2021 ; 11 : 630052.

Research on the use of fecal microbiota transplantation (FMT) in the treatment of disorders related to digestive system ailments in children with autism spectrum disorders (ASDs) is a new attempt in a therapeutic approach. There are very little scientific evidences available on this emerging alternative method. However, it appears to be interesting not only because of its primary outcome, relieving the gastrointestinal (GI) symptoms, but also secondary therapeutic effect of alleviating autistic behavioral symptoms. FMT seems to be also promising method in the treatment of another group of pediatric patients, children with inflammatory bowel disease (IBD). The aim of this study is to discuss the potential use of FMT and modified protocols (MTT, microbiota transfer therapy) in the treatment of GI disorders in ASD children supported by reports on another disease, IBD concerning pediatric patients. Due to the few reports of the use of FMT in the treatment of children, these two patients groups were selected, although suffering from distant health conditions : neurodevelopmental disorder and gastrointestinal tract diseases, because of the the fact that they seem related in aspects of the presence of GI symptoms, disturbed intestinal microbiota, unexplained etiology of the condition and age range of patients. Although the outcomes for all are promising, this type of therapy is still an under-researched topic, studies in the group of pediatric patients are sparse, also there is a high risk of transmission of infectious and noninfectious elements during the procedure and no long-term effects on global health are known. For those reasons all obtained results should be taken with a great caution. However, in the context of future therapeutic directions for GI observed in neurodevelopmental disorders and neurodegenerative diseases, the topic seems worthy of attention.

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16. Zhang J, Ma X, Su Y, Wang L, Shang S, Yue W. Association Study of MTHFR C677T Polymorphism and Birth Body Mass With Risk of Autism in Chinese Han Population. Frontiers in psychiatry. 2021 ; 12 : 560948.

Objective : To explore the association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with birth body mass and risk of autism in Chinese Han population. Methods : A total 1,505 Chinese Han autism patients were recruited, using the Diagnostic and Statistical Manual of Mental Disorders, 4th revised version (DSM-IV-R) diagnostic criteria for autism, and 1,308 sex-matched healthy controls were also enrolled for the study. All the participants’ birth body masses were counted according to the medical records. The MTHFR C677T genotypes were detected using the polymerase chain reaction-restrict fragment length polymorphism (PCR-RFLP) method. The association between C677T polymorphism, birth body mass, and risk of autism were analyzed using the chi-square tests. Results : The present study found that the MTHFR 677T was significantly associated with risk of autism [P = 0.004, odds ratio (OR) = 1.18, 95% CI = 1.02-1.29). The autism children more frequently showed low birth body mass (<2.5 kg) than healthy control subjects (8.6 vs. 5.3%, P = 0.001, OR = 1.67, 95% CI = 1.24-2.26). The interactive effects between MTHFR 677T and low birth body mass (P = 0.0001, OR = 2.18, 95% CI = 1.44-3.32) were also significantly associated with risk of autism. Conclusions : The MTHFR C677T polymorphism and low birth body mass may be associated with risk of autism in Chinese Han population.

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17. Zhang M, Xu S, Chen Y, Lin Y, Ding H, Zhang Y. Recognition of affective prosody in autism spectrum conditions : A systematic review and meta-analysis. Autism. 2021 : 1362361321995725.

Differences in understanding others’ emotions and attitudes through features in speech (e.g. intonation) have been observed in individuals with autism spectrum conditions, which contribute greatly to their social communication challenges. However, some studies reported that individuals with autism spectrum condition performed comparably to typically developing individuals on affective prosody recognition. Here, we provide a comprehensive review with statistical analysis of 23 existing studies on this topic to examine potential factors that could explain the discrepancies. Compared with typically developing individuals, autism spectrum condition participants generally appeared to encounter more difficulties in affective prosody recognition. But this finding was likely due to the tendency of the existing research to overly focus on deficits in autism. The affective prosody recognition performance in individuals with autism spectrum condition was closely related to the number of answer options offered to them. Moreover, the degree of difficulty in affective prosody recognition encountered by individuals with autism spectrum condition varied across emotions. The findings of this systematic review highlighted the need for further research on affective prosody recognition in autism (e.g. studies that include tonal language speakers and autism spectrum condition individuals with lower cognitive or verbal abilities).

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18. Zhang Q, Zou R, Guo M, Duan M, Li Q, Zheng H. Comparison of gut microbiota between adults with autism spectrum disorder and obese adults. PeerJ. 2021 ; 9 : e10946.

BACKGROUND : Autism spectrum disorder (ASD) and obesity are serious global public health problems. Studies have shown that ASD children are at a higher risk of obesity than the general population. To investigate the gut microbe characteristics of adults ASD and obese adults, we compared the gut microbiota of adults with ASD to obese adults. METHODS : The fecal samples were collected from 21 adult patients with ASD and 21 obese adults, and V3-V4 regions of 16S rRNA genes were sequenced by high-throughput DNA sequencing. The gut microbiota of adults with ASD and obese adults was compared. RESULTS : We observed the proportion of Firmicutes/Bacteroidetes in ASD was significantly increased, with families Lachnospiraceae and Ruminococcaceae significantly enriched in adult ASD. Eighteen genera, including Lachnospiracea incertae sedis, Ruminococcus, Blautia, and Holdemanella were significantly increased in adult ASD, whereas Megamonas and Fusobacterium were significantly increased in obesity. At the species level, we found six species enriched in ASD and three species enriched in obesity, including Phascolarctobacterium succinatuten producing propionate. Dialister succinatiphilus may be as a biomarker for predicting obesity, as well as Prevotella copri may be a common-owned pathogens of ASD and obesity. CONCLUSIONS : Some conflicting results have been reported in microbiota studies of ASD, which may be related to age and obesity. Thus, the body mass index should be evaluated before analyzing the gut microbiota of patients with ASD, as obesity is prevalent in these individuals and gut microbiota is severally affected by obesity.

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19. Коваленко И, Галямина А, Смагин Д, Кудрявцева Н. [Co-expression of glutamatergic and autism-related genes in the hippocampus of male mice with disturbances of social behavior]. Vavilovskii zhurnal genetiki i selektsii. 2020 ; 24(2) : 191-9.

There is a hypothesis of the involvement of the glutamatergic system in the development of autism. It has been shown that the chronic experience in daily intermale confrontations leads to disturbances in social behavior : a decrease in communicativeness, disturbances of socialization, emergence of stereotypical behaviors that can be considered as symptoms of the autistic spectrum disorders. So, the aim of this study was to investigate changes in the expression of glutamatergic (GG) and autism-related (GA) genes in the hippocampus of animals with impaired social behavior caused by repeated experience of social defeat or aggression in daily agonistic confrontations. To form groups of animals with contrasting behaviors, a model of sensory contact (chronic social stress) was used. The collected brain samples were sequenced at JSC Genoanalytica (http://genoanalytica.ru/ , Moscow, Russia). Transcriptomic analysis revealed a down-regulation of autism-related (Shank3, Auts2, Ctnnd2, Nrxn2) and glutamatergic (Grm4) genes in aggressive mice. At the same time, the expression of GA-related genes (Shank2, Nlgn2, Ptcdh10, Reln, Arx) and GG genes (Grik3, Grm2, Grm4, Slc17a7, Slc1a4, Slc25a22) excluding Grin2a was increased in defeated mice. Correlative analysis revealed a statistically significant association between GG and GA expression. These results can serve as a confirmation of the participation of the glutamatergic system in the pathophysiology of the autistic spectrum disorder.
Publisher : Abstract available from the publisher.
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