Pubmed du 23/07/22

Pubmed du jour

1. Adler EJ, Schiltz HK, Glad DM, Lehman SA, Pardej SK, Stanley RE, Van Hecke AV. Brief Report: A Pilot Study Examining the Effects of PEERS® for Adolescents Telehealth for Autistic Adolescents. J Autism Dev Disord;2022 (Jul 23):1-9.

The COVID-19 pandemic sparked a worldwide transition to providing online services overnight, highlighting the urgent need for empirically supported telehealth interventions. The current study examined the effects of PEERS® for Adolescents Telehealth, an adaptation from the original social skills intervention developed for in-person provision, among 22 autistic adolescents and their caregivers. To evaluate the intervention, caregivers completed questionnaires assessing core autistic features and frequency of get-togethers. Adolescents completed questionnaires measuring social knowledge and frequency of get-togethers. Improvements in social skills knowledge, increased get-togethers, and decreased core autistic symptoms were evident. Preliminary results suggest PEERS® for Adolescents Telehealth improves social competence, as found for the in-person version. Further research exploring the equivalence of telehealth to in-person social skills intervention is recommended.

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2. Ambrosino S, Elbendary H, Lequin M, Rijkelijkhuizen D, Banaschewski T, Baron-Cohen S, Bast N, Baumeister S, Buitelaar J, Charman T, Crawley D, Dell’Acqua F, Hayward H, Holt R, Moessnang C, Persico AM, Sacco R, San José Cáceres A, Tillmann J, Loth E, Ecker C, Oranje B, Murphy D, Durston S. In-depth characterization of neuroradiological findings in a large sample of individuals with autism spectrum disorder and controls. Neuroimage Clin;2022 (Jul 16);35:103118.

BACKGROUND: Autism spectrum disorder (ASD) is a group of neurodevelopmental conditions associated with quantitative differences in cortical and subcortical brain morphometry. Qualitative assessment of brain morphology provides complementary information on the possible underlying neurobiology. Studies of neuroradiological findings in ASD have rendered mixed results, and await robust replication in a sizable and independent sample. METHODS: We systematically and comprehensively assessed neuroradiological findings in a large cohort of participants with ASD and age-matched controls (total N = 620, 348 ASD and 272 controls), including 70 participants with intellectual disability (47 ASD, 23 controls). We developed a comprehensive scoring system, augmented by standardized biometric measures. RESULTS: There was a higher incidence of neuroradiological findings in individuals with ASD (89.4 %) compared to controls (83.8 %, p = .042). Certain findings were also more common in ASD, in particular opercular abnormalities (OR 1.9, 95 % CI 1.3-3.6) and mega cisterna magna (OR 2.4, 95 % CI 1.4-4.0) reached significance when using FDR, whereas increases in macrocephaly (OR 2.0, 95 % CI 1.2-3.2), cranial deformities (OR 2.4, 95 % CI: 1.0-5.8), calvarian / dural thickening (OR 1.5, 95 % CI 1.0-2.3), ventriculomegaly (OR 3.4, 95 % CI 1.3-9.2), and hypoplasia of the corpus callosum (OR 2.7, 95 % CI 1.1-6.3) did not survive this correction. Furthermore, neuroradiological findings were more likely to occur in isolation in controls, whereas they clustered more frequently in ASD. The incidence of neuroradiological findings was higher in individuals with mild intellectual disability (95.7 %), irrespective of ASD diagnosis. CONCLUSION: There was a subtly higher prevalence of neuroradiological findings in ASD, which did not appear to be specific to the condition. Individual findings or clusters of findings may point towards the neurodevelopmental mechanisms involved in individual cases. As such, clinical MRI assessments may be useful to guide further etiopathological (genetic) investigations, and are potentially valuable to fundamental ASD research.

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3. Boamah DA, Barbee AP. Prevalence of Secondary Traumatic Stress Among Direct Support Professionals in Intellectual and Developmental Disabilities Field. Intellect Dev Disabil;2022 (Aug 1);60(4):273-287.

Direct support professionals (DSPs) are deemed by existing literature as vital support to persons with intellectual or developmental disabilities (IDD). They may be exposed to the traumatic experiences of people with IDD with potential psychological implications. Secondary traumatic stress (STS) has been studied among related professionals across human services, but little is known among DSPs. The current study examines the prevalence of STS in a sample of DSPs. The results suggested that DSPs are exposed to traumatic experiences, and exposure to a greater number of traumatized clients is significantly correlated with symptoms of STS. At least 12.4% of DSPs in this sample met the diagnostic criteria for experiencing post-traumatic stress disorder (PTSD) symptoms. Also, results suggest STS differences in DSPs based on demographics.

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4. Caudill A, Hladik L, Gray M, Dulaney N, Barton K, Rogers J, Noblet N, Ausderau KK. Health Narratives as a Therapeutic Tool for Health Care Access for People with Intellectual and Developmental Disabilities. Occup Ther Health Care;2022 (Jul 22):1-18.

Individuals with intellectual and developmental disabilities (IDD) have unique and complex health care needs that require health care access. Barriers, such as decreased health literacy and a lack of experienced physicians working with this population, make access to inclusive health care increasingly difficult. Therefore, it is important for occupational therapists to intentionally create opportunities to improve healthcare access and utilization for this population. This paper describes the collaborative health narrative development process as well as the inclusion of three examples created by co-authors with intellectual or developmental disability.

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5. Chen YS, Guo L, Han M, Zhang SM, Chen YQ, Zou J, Bai SY, Cheng GR, Zeng Y. Cerebellum Neuropathology and Motor Skill Deficits in Fragile X Syndrome. Int J Dev Neurosci;2022 (Jul 23)

Fragile X syndrome (FXS) is a leading form of inherited intellectual disability and single-gene cause of autism spectrum disorder (ASD) and is characterized by core deficits in cognitive flexibility, sensory sensitivity, emotion, and social interactions. Motor deficits are a shared feature of FXS and autism. The cerebellum has emerged as one of the target brain areas affected by neurodevelopmental diseases. Alterations in the cerebellar structure, circuits, and function may be the key drivers of impaired fine and gross motor skills in FXS and fragile X-associated tremor/ataxia syndrome (FXTAS). In this review, we briefly examined recent findings in FXS and present a discussion on the literature supporting motor skill deficits in FXS. Subsequently, we focused on neuropathological alterations in the cerebellum in FXS and FXTAS. We highlight studies that have directly examined the function of fragile X mental retardation protein and related epigenetic variations in the cerebellum. Overall, we obtained considerable supporting evidence for the hypothesis that cerebellar dysfunction is evident in FXS and FXTAS; however, compared with studies on other ASD models, studies on motor skills related to fragile X disorders are particularly rare and inconclusive. Hence, future research should address FXS-related motor and behavioral trajectories and examine the underlying mechanisms at both the cell and circuit levels.

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6. Dougherty JD, Marrus N, Maloney SE, Yip B, Sandin S, Turner TN, Selmanovic D, Kroll KL, Gutmann DH, Constantino JN, Weiss LA. Can the « female protective effect » liability threshold model explain sex differences in autism spectrum disorder?. Neuron;2022 (Jul 20)

Male sex is a strong risk factor for autism spectrum disorder (ASD). The leading theory for a « female protective effect » (FPE) envisions males and females have « differing thresholds » under a « liability threshold model » (DT-LTM). Specifically, this model posits that females require either a greater number or larger magnitude of risk factors (i.e., greater liability) to manifest ASD, which is supported by the finding that a greater proportion of females with ASD have highly penetrant genetic mutations. Herein, we derive testable hypotheses from the DT-LTM for ASD, investigating heritability, familial recurrence, correlation between ASD penetrance and sex ratio, population traits, clinical features, the stability of the sex ratio across diagnostic changes, and highlight other key prerequisites. Our findings reveal that several key predictions of the DT-LTM are not supported by current data, requiring us to establish a different conceptual framework for evaluating alternate models that explain sex differences in ASD.

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7. Duan L, Yin H, Liu J, Wang W, Li J, Shen J, Liu L, Wang Z. Fetal neurodevelopmental spatio-temporal dynamic transcriptional landscape of maternal insult-induce autism spectrum disorder risk. Biochem Biophys Res Commun;2022 (Jul 23);614:183-190.

Maternal insults during pregnancy induces an increased risk of autism spectrum disorders (ASD) in offspring, but the neuropathological changes in this process remains not to be established. To shed light on this, the transcriptome datasets of maternal blood samples with children later diagnosed with ASD and typical development, and tissue samples of multiple brain regions from ASD patients and human neurodevelopment were conducted to identify the non-chasm differentially expressed genes (DEGs) to generate the spatio-temporal dynamic change. Combined enrichment and interaction network analysis revealed that non-chasm DEGs with similar expression trajectories in the same brain regions, were involved in neural, immune and metabolic GO functions and KEGG pathways, respectively, suggesting that did not performed exactly the same functions. Interestingly, our results found that non-chasm DEGs in frontal cortex and temporal cortex were associated with COVID-19, suggesting that as an environmental risk factor COVID-19 affects an increased risk of ASD.

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8. Fremion E, Cowley R, Berens J, Staggers KA, Kemere KJ, Kim JL, Acosta E, Peacock C. Improved health care transition for young adults with developmental disabilities referred from designated transition clinics. J Pediatr Nurs;2022 (Jul 23);67:27-33.

PURPOSE: Young adults with intellectual/developmental disabilities (YAIDD) are a vulnerable population during HCT due to their complex care coordination and adaptive needs, yet factors associated with transition preparedness are not well defined. We aimed to determine factors associated with health care transition (HCT) preparation satisfaction for YAIDD establishing care with an adult medical home. DESIGN AND METHODS: 408 YAIDD or their families completed the HCT Feedback Survey 2.0 upon establishing adult care. Logistic regression models were used to determine associations between a composite of six HCT Feedback Survey questions that most correlated with the 2019 National Survey of Children’s Health transition questions. RESULTS: YADD who had HCT preparation visits with a designated HCT clinic were 9 times more likely to have met all six composite HCT criteria after controlling for the number of technologies required and race/ethnicity (adj OR 9.04, 95% CI: 4.35, 18.76) compared to those referred from the community. Compared to patients who were referred from the community, the odds of feeling very prepared versus somewhat or not prepared were 3.7 times higher (adj OR 3.73, 95% CI: 1.90, 7.32) among patients referred from a designated HCT program. CONCLUSIONS: YAIDD who participated in a structured HCT program prior to transfer to adult care experienced higher transition preparation satisfaction. PRACTICAL IMPLICATIONS: A structured HCT clinic model to prepare adolescents with DD for transition to adult care may improve HCT preparation satisfaction for this population.

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9. Huang Y, Wong MK, Lam WY, Cheng CH, So WC. What affects gestural learning in children with and without Autism? The role of prior knowledge and imitation. Res Dev Disabil;2022 (Jul 19);129:104305.

The present study examined whether prior knowledge to the learning target and imitation during learning affected learning outcomes in preschool children with autism spectrum disorder (ASD, N = 22) compared to their typically developing (TD, N = 15) peers. Children’s gestural skills in recognizing and producing the target gestures before and after the training, as well as their imitative behavior during the training were coded. Results showed that consistent prior knowledge benefited gestural learning in both groups. Besides, only children with ASD were hindered by inconsistent prior knowledge. Notably, the effect of imitation was not significant in the ASD group. In conclusion, the learning process in children with ASD may differ from those with typical development, suggesting special-designed interventions are required.

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10. Jiang W, Liu S, Zhang H, Sun X, Wang SH, Zhao J, Yan J. CNNG: A Convolutional Neural Networks With Gated Recurrent Units for Autism Spectrum Disorder Classification. Front Aging Neurosci;2022;14:948704.

As a neurodevelopmental disorder, autism spectrum disorder (ASD) severely affects the living conditions of patients and their families. Early diagnosis of ASD can enable the disease to be effectively intervened in the early stage of development. In this paper, we present an ASD classification network defined as CNNG by combining of convolutional neural network (CNN) and gate recurrent unit (GRU). First, CNNG extracts the 3D spatial features of functional magnetic resonance imaging (fMRI) data by using the convolutional layer of the 3D CNN. Second, CNNG extracts the temporal features by using the GRU and finally classifies them by using the Sigmoid function. The performance of CNNG was validated on the international public data-autism brain imaging data exchange (ABIDE) dataset. According to the experiments, CNNG can be highly effective in extracting the spatio-temporal features of fMRI and achieving a classification accuracy of 72.46%.

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11. Karns CM, Todis B, Glenn E, Glang A, Wade SL, Riddle I, McIntyre LL. Seeking Out Social Learning: Online Self-Education in Parents of Children With Intellectual and Developmental Disabilities. Intellect Dev Disabil;2022 (Aug 1);60(4):303-315.

Supportive, informed parenting is critical to improve outcomes of children who experience intellectual and developmental disabilities (IDD). Parents want to learn about their child’s condition, needs, and strategies to improve family life. The internet is a valuable resource, but how parents evaluate and apply information is unknown. We conducted focus groups to understand how parents use internet resources to learn about their children with IDD. Parents described using the internet to access information from trusted sources, find examples to apply their knowledge, and seek social support. Social learning theory, which posits that cognitive, behavioral, and social processes influence each other to support real-world learning, could provide a theoretical framework for unifying these findings and for designing efficacious online interventions.

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12. Leadbitter K, Smallman R, James K, Shields G, Ellis C, Langhorne S, Harrison L, Hackett L, Dunkerley A, Kroll L, Davies L, Emsley R, Bee P, Green J. REACH-ASD: a UK randomised controlled trial of a new post-diagnostic psycho-education and acceptance and commitment therapy programme against treatment-as-usual for improving the mental health and adjustment of caregivers of children recently diagnosed with autism spectrum disorder. Trials;2022 (Jul 22);23(1):585.

BACKGROUND: Autism is a neurodevelopmental disability affecting over 1% of UK children. The period following a child’s autism diagnosis can present real challenges in adaptation for families. Twenty to 50% of caregivers show clinically significant levels of mental health need within the post-diagnostic period and on an ongoing basis. Best practice guidelines recommend timely post-diagnostic family support. Current provision is patchy, largely unevidenced, and a source of dissatisfaction for both families and professionals. There is a pressing need for an evidenced programme of post-diagnostic support focusing on caregiver mental health and adjustment, alongside autism psycho-education. This trial tests the clinical and cost-effectiveness of a new brief manualised psychosocial intervention designed to address this gap. METHODS: This is a multi-centre two-parallel-group single (researcher)-blinded randomised controlled trial of the Empower-Autism programme plus treatment-as-usual versus usual local post-diagnostic offer plus treatment-as-usual. Caregivers of children aged 2-15 years with a recent autism diagnosis will be recruited from North West England NHS or local authority centres. Randomisation is individually by child, with one « index » caregiver per child, stratified by centre, using 2:1 randomisation ratio to assist recruitment and timely intervention. Empower-Autism is a group-based, manualised, post-diagnostic programme that combines autism psycho-education and psychotherapeutic components based on Acceptance and Commitment Therapy to support caregiver mental health, stress management and adjustment to their child’s diagnosis. The comparator is any usual local group-based post-diagnostic psycho-education offer. Receipt of services will be specified through health economic data. PRIMARY OUTCOME: caregiver mental health (General Health Questionnaire-30) at 52-week follow-up. SECONDARY OUTCOMES: key caregiver measures (wellbeing, self-efficacy, adjustment, autism knowledge) at 12-, 26- and 52-week follow-up and family and child outcomes (wellbeing and functioning) at 52-week endpoint. SAMPLE: N=380 (approximately 253 intervention/127 treatment-as-usual). Primary analysis will follow intention-to-treat principles using linear mixed models with random intercepts for group membership and repeated measures. Cost-effectiveness acceptability analyses will be over 52 weeks, with decision modelling to extrapolate to longer time periods. DISCUSSION: If effective, this new approach will fill a key gap in the provision of evidence-based care pathways for autistic children and their families. TRIAL REGISTRATION: ISRCTN 45412843 . Prospectively registered on 11 September 2019.

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13. Porter N, Loveland KA, Saroukhani S, Posey Y, Morimoto K, Rahbar MH. Severity of Child Autistic Symptoms and Parenting Stress in Mothers of Children with Autism Spectrum Disorder in Japan and USA: Cross-Cultural Differences. Autism Res Treat;2022;2022:7089053.

The purpose of this study was to compare the relationship between parenting stress and autistic symptom severity in the U.S. and Japan. Fifty-two U.S. and 51 Japanese mothers of children aged 2-12 with autism completed measures of parenting stress and child characteristics, including the parenting stress index (PSI), the social communication questionnaire (SCQ), and social responsiveness scale-2 (SRS-2). There was a nonlinear relationship between the child’s autistic symptom severity and parenting stress in both countries. We also found some cultural differences: in the parent domain, the relationships between children’s SCQ scores and PSI scores differed significantly between the U.S. and Japan. Our findings suggest that autistic severity symptom scores may reflect cross-cultural differences in parenting beliefs, views toward autism, and response styles for evaluating children’s behavior. The findings also suggest that parents need support regardless of the child’s autism severity, including those with mild to moderate symptoms. Expanding on this line of research and understanding cultural influences on parenting stress may help service providers and agencies offer more culturally sensitive services, parent-education courses, and intervention programs.

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14. Rosenthal E, Parish SL, Ransom C, Smith LD, Mitra M. Formal and Informal Supports for Women With Intellectual and Developmental Disabilities During Pregnancy. Intellect Dev Disabil;2022 (Aug 1);60(4):261-272.

This article explores the role of formal and informal supports for women with intellectual and developmental disabilities (IDD) throughout their pregnancy, childbirth, and postpartum experiences. Data from qualitative interviews with women with IDD (n = 16) were analyzed. Results showed that formal supports aided in planning, transportation, advocacy, and providing emotional support throughout pregnancy. Informal supports helped with errands, comfort, and emotional encouragement. The community surrounding these women facilitated communication with providers, self-empowerment regarding health choices, and increased preparedness for parenthood. Findings indicate the importance of encouraging and sustaining both formal and informal supports during pregnancy, childbirth, and postpartum to improve pregnancy and parenting experiences for women with IDD.

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15. Serrada-Tejeda S, Martínez-Piédrola RM, Máximo-Bocanegra N, Sánchez-Herrera-Baeza P, Pérez-de-Heredia-Torres M. Descriptive Analysis of Adaptive Behavior in Phelan-McDermid Syndrome and Autism Spectrum Disorder. Front Neurosci;2022;16:893003.

INTRODUCTION: The variety in symptomatology and clinical presentation of individuals diagnosed with Phelan-McDermid Syndrome (PMS) can delay medical diagnosis, so identifying specific neurobehavioral variables and facilitating differential diagnosis with patients with idiopathic Autism Spectrum Disorder (ASD) can guide early detection. METHODS: A descriptive analysis of the level of adaptive behavior in 50 patients diagnosed with PMS was performed (SHANK3 (deletion): N = 44; SHANK (mutation) : N = 6). Subsequently, a comparative analysis was performed with 28 children aged between 4 years and 6 years and 11 months (SHANK3 (deletion) = 14; ASD = 14). Differences between the two groups were evaluated and Bonferroni correction was applied for multiple comparisons. RESULTS: Differences were identified in the variables of communication (z = -2.715, p = 0.007), Self-Direction (z = -2.199, p = 0.028) and social participation (z = -3.190, p = 0.001), with better adaptive behavior skills being observed in participants with a SHANK3 (mutation) . Better adaptive skills in the sample of participants with (ASD) , were found and statistically significant differences were identified in the variables of academic skills (z = -3.084, p = 0.002), use of community resources (z = -1.889, p = 0.050) and health and safety (z = -2.90, p = 0.004). CONCLUSION: Participants with SHANK3 (mutation) show better communication and social participation skills than those with a diagnosis of SHANK3 (deletion). The observed differences between ASD and individuals with PMS reflect deficits in practical and conceptual adaptive skills that may limit and hinder daily adaptive functioning.

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16. Stark I, Rai D, Lundberg M, Culpin I, Nordström SI, Ohlis A, Magnusson C. Autism and self-harm: a population-based and discordant sibling study of young individuals. Acta Psychiatr Scand;2022 (Jul 22)

OBJECTIVE: Self-harm among young autistic individuals is a clinical challenge, and the risk of premature death by suicide is strongly increased in this group. Using the advantage of total-population and family-based data we investigated whether autism per se is a risk factor for self-harm independently of psychiatric comorbidities and how it differs from self-harm in non-autistic individuals. METHODS: We used The Stockholm Youth Cohort, a total-population register study, including all residents in Stockholm County aged 0-17 years between 2001-2011.Study participants were followed from age 10 to 27 for hospital admissions due to self -harm. We used modified Poisson regression to calculate relative risks (RR) using robust standard error to derive 95 % confidence intervals (CI). RESULTS: In all, 410,732 individuals were included in the cohort (9,070 with a diagnosis of autism). Autistic individuals had a fivefold increased adjusted relative risk of self-harm (RR 5.0 [95 % CI 4.4-5.6]). The risk increase was more pronounced for autism without intellectual disability and particularly high for self-cutting 10.2 [7.1-14.7] and more violent methods 8.9, [5.2-15.4]. The association between autism and self-harm was independent of, but clearly exacerbated by comorbid psychiatric conditions. It was of similar magnitude as risks linked to these conditions per se, and not explained by shared familial factors. CONCLUSION: Self-harm severe enough to present to medical services is as common in autistic youth as in those with depression or ADHD. Potentially more lethal methods are more likely to be used of autistic self-harmers.

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17. Tabatabaei SH, Shahrokhi H, Gholipour K, Iezadi S, Rezapour R, Naghibi D, Azami-Aghdash S. The Characteristics and Results of Parent Training Interventions in Children with Autism Spectrum Disorder: A Systematic Review. Iran J Public Health;2022 (Mar);51(3):518-530.

BACKGROUND: The role of parents in taking care of children with Autism Spectrum Disorder (ASD) is critical. This systematic review aimed to investigate the characteristics and results of parent training interventions for autistic children. METHODS: All relevant studies were searched using Boolean operators such as « AND » and « OR » with the keywords such as « Autism Spectrum Disorders, » « Autism, » « Autistic disorder, » « Asperger syndrome, » « Rett’s syndrome », « Childhood disintegrative disorder », « Non-specific pervasive disorder », Parent*, Education*, train*, teach*, indoctrinate*, and instruct* in electronic databases such as PubMed, Scopus, Google Scholar, Cochrane Library, Science Direct, Web of knowledge, and also via manual searching in relevant journals, checking the reference list of articles, expert contact, and grey literature from 1 Jan 2000 to 30 Feb 2020. The retrieved studies were screened and reviewed then quality assessed by CONSORT checklist. The qualitative data were analyzed using content analysis method. RESULTS: Eventually, 53 articles were considered in which 1758 parents with autistic children participated. Overall, 49 studies were conducted in high-income countries, 19 at home, 25 in training centers, 14 carried out only in training way, 39 in training along with practices and assignments, 30 individual interventions, and 21 in groups. Moreover, the effectiveness of interventions was studied in both parents and children groups. The results for parents show direct and indirect favorable impacts of interventions on them. The results for the children indicate direct and indirect favorable effects of the parents-based interventions on the child and the symptoms of their disorder. CONCLUSION: According to the included studies, parents-based training interventions significantly impact parents and their children’s behavior.

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18. Tamouza R, Volt F, Richard JR, Wu CL, Bouassida J, Boukouaci W, Lansiaux P, Cappelli B, Scigliuolo GM, Rafii H, Kenzey C, Mezouad E, Naamoune S, Chami L, Lejuste F, Farge D, Gluckman E. Possible Effect of the use of Mesenchymal Stromal Cells in the Treatment of Autism Spectrum Disorders: A Review. Front Cell Dev Biol;2022;10:809686.

Autism spectrum disorder (ASD) represents a set of heterogeneous neurodevelopmental conditions defined by impaired social interactions and repetitive behaviors. The number of reported cases has increased over the past decades, and ASD is now a major public health burden. So far, only treatments to alleviate symptoms are available, with still unmet need for an effective disease treatment to reduce ASD core symptoms. Genetic predisposition alone can only explain a small fraction of the ASD cases. It has been reported that environmental factors interacting with specific inter-individual genetic background may induce immune dysfunctions and contribute to the incidence of ASD. Such dysfunctions can be observed at the central level, with increased microglial cells and activation in ASD brains or in the peripheral blood, as reflected by high circulating levels of pro-inflammatory cytokines, abnormal activation of T-cell subsets, presence of auto-antibodies and of dysregulated microbiota profiles. Altogether, the dysfunction of immune processes may result from immunogenetically-determined inefficient immune responses against a given challenge followed by chronic inflammation and autoimmunity. In this context, immunomodulatory therapies might offer a valid therapeutic option. Mesenchymal stromal cells (MSC) immunoregulatory and immunosuppressive properties constitute a strong rationale for their use to improve ASD clinical symptoms. In vitro studies and pre-clinical models have shown that MSC can induce synapse formation and enhance synaptic function with consequent improvement of ASD-like symptoms in mice. In addition, two preliminary human trials based on the infusion of cord blood-derived MSC showed the safety and tolerability of the procedure in children with ASD and reported promising clinical improvement of core symptoms. We review herein the immune dysfunctions associated with ASD provided, the rationale for using MSC to treat patients with ASD and summarize the current available studies addressing this subject.

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19. Tso RV, Chui CO, Hsiao JH. How does face mask in COVID-19 pandemic disrupt face learning and recognition in adults with autism spectrum disorder?. Cogn Res Princ Implic;2022 (Jul 22);7(1):64.

Use of face masks is one of the measures adopted by the general community to stop the transmission of disease during this ongoing COVID-19 pandemic. This wide use of face masks has indeed been shown to disrupt day-to-day face recognition. People with autism spectrum disorder (ASD) often have predisposed impairment in face recognition and are expected to be more vulnerable to this disruption in face recognition. Here, we recruited typically developing adult participants and those with ASD, and we measured their non-verbal intelligence, autism spectrum quotient, empathy quotient, and recognition performances of faces with and without a face mask covering the lower halves of the face. When faces were initially learned unobstructed, we showed that participants had a general reduced face recognition performance for masked faces. In contrast, when masked faces were first learned, typically developing adults benefit with an overall advantage in recognizing both masked and unmasked faces; while adults with ASD recognized unmasked faces with a significantly more reduced level of performance than masked faces-this face recognition discrepancy is predicted by a higher level of autistic traits. This paper also discusses how autistic traits influence processing of faces with and without face masks.

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20. Xiang L, Wu Q, Sun H, Miao X, Lv Z, Liu H, Chen L, Gu Y, Chen J, Zhou S, Jiang H, Du S, Zhou Y, Dong H, Fan Y, Miao S, Lu Q, Chang L, Wang H, Lu Y, Xu X, Wang W, Huang Z. SARM1 deletion in parvalbumin neurons is associated with autism-like behaviors in mice. Cell Death Dis;2022 (Jul 22);13(7):638.

Autism spectrum disorder (ASD), a group of neurodevelopmental disorder diseases, is characterized by social deficits, communication difficulties, and repetitive behaviors. Sterile alpha and TIR motif-containing 1 protein (SARM1) is known as an autism-associated protein and is enriched in brain tissue. Moreover, SARM1 knockdown mice exhibit autism-like behaviors. However, its specific mechanism in ASD pathogenesis remains unclear. Here we generated parvalbumin-positive interneurons (PVI)-specific conditional SARM1 knockout (SARM1(PV)-CKO) mice. SARM1(PV)-CKO male mice showed autism-like behaviors, such as mild social interaction deficits and repetitive behaviors. Moreover, we found that the expression level of parvalbumin was reduced in SARM1(PV)-CKO male mice, together with upregulated apoptosis-related proteins and more cleaved-caspase-3-positive PVIs, suggesting that knocking out SARM1 may cause a reduction in the number of PVIs due to apoptosis. Furthermore, the expression of c-fos was shown to increase in SARM1(PV)-CKO male mice, in combination with upregulation of excitatory postsynaptic proteins such as PSD-95 or neuroligin-1, indicating enhanced excitatory synaptic input in mutant mice. This notion was further supported by the partial rescue of autism-like behavior deficits by the administration of GABA receptor agonists in SARM1(PV)-CKO male mice. In conclusion, our findings suggest that SARM1 deficiency in PVIs may be involved in the pathogenesis of ASD.

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