Pubmed du 28/01/21

jeudi 28 janvier 2021

1. Arghir A, Papuc SM, Tutulan-Cunita AC, Erbescu A, Loddo S, Genovese S, Ciocca L, Goldoni M, Piscopo C, Bernardini L, Novelli A, Budisteanu M. Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion : Case report and literature review. Clin Case Rep. 2021 ; 9(1) : 314-21.

Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that includes severe intellectual disability, microcephaly, epilepsy, and autism, the latter having been rarely associated with this genetic defect.

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2. Bakhtiari R, Hutchison SM, Iarocci G. How do children and youth with autism spectrum disorder self-report on behavior ? A study of the validity indexes on the Behavior Assessment System for Children, Second Edition, self-report of personality. Autism. 2021 : 1362361320984601.

Using self-report questionnaires is an important method in the assessment and treatment of children with autism. Self-reports can provide unique information about children’s feelings and thoughts that is not available through other methods such as parent-reports. However, many clinicians are not sure whether children with autism can provide accurate self-reports. To study this, we examined 139 children and youth with and without autism aged 8-17 years. We looked at the effect of having autism, as well as other factors such as age, intelligence quotient, and attention problems on the validity of self-reports in these children. We examined if the children gave overly negative or positive answers and if they responded to the questions randomly or without paying attention. We found that children with autism can provide acceptable self-reports. However, they have more validity problems compared to their peers without autism. Our findings showed that this difference might be related to having attention problems in addition to autism, rather than having autism by itself. Children, with and without autism spectrum disorder, with fewer attention problems and higher intelligence quotient scores and those in the older age group, showed better validity. This article suggests that clinicians can use self-report measures for children with autism, but they should pay attention to important factors such as children’s intelligence quotient and attention problems.

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3. Brady MP. Are We There Yet ? An Emerging Research Agenda for College Students with Intellectual and Developmental Disabilities. Behav Modif. 2021 ; 45(2) : 203-14.

There is a distinct need for a research agenda that drives research, practice, and policy for college students with intellectual and developmental disabilities. This paper provides a brief summary of the rapid growth of college programs in the absence of any organized research agenda. A research framework and agenda is proposed, and a brief summary of each of the papers in the special issue is provided.

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4. Brezis RS, Levin A, Oded Y, Zahavi O, Gampel G, Levit-Binnun N. A Contemplative Biofeedback Intervention for Adults with Autism Spectrum Disorder : Feasibility of a Community-Based Treatment. Applied psychophysiology and biofeedback. 2021.

As the number of diagnosed adults living with autism spectrum disorder (ASD) continues to grow, a lack of resources and lack of available interventions exacerbate their low quality of life, including low levels of education and employment, and high levels of co-morbid anxiety and depression. Here we build upon existing research showing the effectiveness of contemplative interventions on individuals with ASD, to provide a low-cost biofeedback-enhanced training which can be implemented by non-professional staff, and may help autistic individuals grasp abstract contemplative techniques. We hypothesize that the intervention will decrease participants’ anxiety and autism symptoms, and increase their self-awareness, self-determination, and empathy. Fourteen adults with ASD, residing in assisted living, were provided with 16 weekly half-hour contemplative-biofeedback sessions with non-professional trainers, in which they learned to reduce their arousal levels through combined biofeedback and contemplative techniques, and apply those to everyday life. Quantitative and qualitative data was collected pre- and post-intervention, to determine changes in participants’ self-awareness, self-determination, anxiety, autism symptoms, and empathy. Participants were capable of successfully improving their physiological arousal levels on the biofeedback setup, indicating feasibility of the technique. Further, we found initial indications for reduction in autism symptoms and increased self-determination. Qualitative reports by participants and counselors revealed that participants applied the techniques in many real-life situations, and these had far-ranging effects on their emotional regulation, work and social motivation, and self-determination. The study provides proof-of-concept for a low-cost, community-based intervention which can ameliorate the lives of adults with ASD.

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5. Cagliani RR, Snyder SK, White EN. Classroom Based Intensive Toilet Training for Children with Autism Spectrum Disorder. J Autism Dev Disord. 2021 : 1-11.

The purpose of this study was to investigate the effects of an intensive toilet training program on continence and self-initiation for elementary children with autism spectrum disorder (ASD). Researchers used a non-concurrent multiple baseline design (Watson and Workman in J Behav Ther Exp Psychiatry 12:257-259, 1981, https://doi.org/10.1016/0005-7916(81)90055-0 ) with regulated randomization (Koehler and Levin in Psychol Methods 3(2):206, 1998, https://doi.org/10.1037/1082-989X.3.2.206 ) to evaluate the effects of the intensive protocol with four students with ASD in the classroom where they received special education services. The protocol included increased access to fluids, contingent time intervals for sit schedules, programmed reinforcement, and dry checks. All four participants met mastery criteria and maintained independent toileting after the study’s completion. Three participants began self-initiating to use the restroom. The implications and recommendations for future research are discussed.

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6. Caplan B, Blacher J, Eisenhower A, Baker BL, Lee SS. Gene x responsive parenting interactions in social development : Characterizing heterogeneity in autism spectrum disorder. Dev Psychobiol. 2021.

Emerging research suggests that caregiving environments and genetic variants independently contribute to social functioning in children with typical development or autism spectrum disorder (ASD). However, biologically plausible interactive models and complimentary assessment of mechanisms are needed to : (a) explain considerable social heterogeneity, (b) resolve inconsistencies in the literature, and (c) develop and select optimal treatments based on individual differences. This study examined the role of child genotypes and responsive parenting in the social development of 104 children with ASD (ages 4-7 years). We utilized a longitudinal, multi-informant design and structural equation models to evaluate : (a) the additive and interactive effects of biologically plausible candidate genes (5-HTTLPR, OXTR, DRD4) and responsive parenting in predicting prospective social development in ASD across three time points spanning 1.5 years, and (b) whether child emotion regulation mediated observed gene x environment interactions (GxEs). Responsive parenting positively predicted prospective change in child social skills ; these associations were moderated by 5-HTTLPR and DRD4 in teacher-report models, and DRD4 in parent-report models. No GxE effects were found for OXTR. Emotion regulation did not significantly mediate the GxEs involving 5-HTTLPR and DRD4. Acknowledging the complexities of GxE research, implications for future research, and targeted intervention efforts are discussed.

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7. Day JJ, Hodges J, Mazzucchelli TG, Sofronoff K, Sanders MR, Einfeld S, Tonge B, Gray KM. Coercive parenting : modifiable and nonmodifiable risk factors in parents of children with developmental disabilities. J Intellect Disabil Res. 2021.

BACKGROUND : Parents of children with developmental or intellectual disabilities tend to report greater use of coercive parenting practices relative to parents of typically developing children, increasing the risk of adverse child outcomes. However, to date, there is limited research exploring the role and relative contribution of modifiable and nonmodifiable risk factors in parents of children with a disability. The present study aimed to explore the role of various modifiable and nonmodifiable parenting, family and sociodemographic factors associated with the use of coercive parenting practices in parents of children with a disability. METHODS : Caregivers (N = 1392) enrolled in the Mental Health of Young People with Developmental Disabilities (MHYPeDD) programme in Australia completed a cross-sectional survey about their parenting and their child aged 2-12 years with a disability. Measures covered a range of domains including relevant demographic and family background, use of coercive parenting practices, intensity of child behavioural difficulties and questions relating to parent and family functioning such as parental self-efficacy, adjustment difficulties and quality of family relationships. RESULTS : Parents of older children, those who were younger at the birth of their child, and parents who were co-parenting or working reported more use of coercive parenting practices. Greater intensity of child difficulties, poorer parental self-efficacy and parent-child relationships, and more parental adjustment difficulties were also significantly associated with more use of coercive parenting. Examination of the relative contribution of variables revealed parent-child relationship was a key contributing factor, followed by intensity of child behaviour problems, parent adjustment and parent confidence. CONCLUSIONS : These findings highlight a range of factors that should be targeted and modified through upstream prevention programmes and further inform our understanding of how coercive practices may be influenced through targeted parenting interventions.

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8. Frazier TW, Jaini R, Busch RM, Wolf M, Sadler T, Klaas P, Hardan AY, Martinez-Agosto JA, Sahin M, Eng C. Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism. Mol Autism. 2021 ; 12(1) : 5.

BACKGROUND : PTEN is a well-established risk gene for autism spectrum disorder (ASD). Yet, little is known about how PTEN mutations and associated molecular processes influence neurobehavioral function in mutation carriers with (PTEN-ASD) and without ASD (PTEN no-ASD). The primary aim of the present study was to examine group differences in peripheral blood-derived PTEN pathway protein levels between PTEN-ASD, PTEN no-ASD, and idiopathic macrocephalic ASD patients (macro-ASD). Secondarily, associations between protein levels and neurobehavioral functions were examined in the full cohort. METHODS : Patients were recruited at four tertiary medical centers. Peripheral blood-derived protein levels from canonical PTEN pathways (PI3K/AKT and MAPK/ERK) were analyzed using Western blot analyses blinded to genotype and ASD status. Neurobehavioral measures included standardized assessments of global cognitive ability and multiple neurobehavioral domains. Analysis of variance models examined group differences in demographic, neurobehavioral, and protein measures. Bivariate correlations, structural models, and statistical learning procedures estimated associations between molecular and neurobehavioral variables. To complement patient data, Western blots for downstream proteins were generated to evaluate canonical PTEN pathways in the PTEN-m3m4 mouse model. RESULTS : Participants included 61 patients (25 PTEN-ASD, 16 PTEN no-ASD, and 20 macro-ASD). Decreased PTEN and S6 were observed in both PTEN mutation groups. Reductions in MnSOD and increases in P-S6 were observed in ASD groups. Elevated neural P-AKT/AKT and P-S6/S6 from PTEN murine models parallel our patient observations. Patient PTEN and AKT levels were independently associated with global cognitive ability, and p27 expression was associated with frontal sub-cortical functions. As a group, molecular measures added significant predictive value to several neurobehavioral domains over and above PTEN mutation status. LIMITATIONS : Sample sizes were small, precluding within-group analyses. Protein and neurobehavioral data were limited to a single evaluation. A small number of patients were excluded with invalid protein data, and cognitively impaired patients had missing data on some assessments. CONCLUSIONS : Several canonical PTEN pathway molecules appear to influence the presence of ASD and modify neurobehavioral function in PTEN mutation patients. Protein assays of the PTEN pathway may be useful for predicting neurobehavioral outcomes in PTEN patients. Future longitudinal analyses are needed to replicate these findings and evaluate within-group relationships between protein and neurobehavioral measures. TRIAL REGISTRATION : ClinicalTrials.gov Identifier NCT02461446.

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9. Gao J, Chen M, Li Y, Gao Y, Li Y, Cai S, Wang J. Multisite Autism Spectrum Disorder Classification Using Convolutional Neural Network Classifier and Individual Morphological Brain Networks. Front Neurosci. 2020 ; 14 : 629630.

Autism spectrum disorder (ASD) is a range of neurodevelopmental disorders with behavioral and cognitive impairment and brings huge burdens to the patients’ families and the society. To accurately identify patients with ASD from typical controls is important for early detection and early intervention. However, almost all the current existing classification methods for ASD based on structural MRI (sMRI) mainly utilize the independent local morphological features and do not consider the covariance patterns of these features between regions. In this study, by combining the convolutional neural network (CNN) and individual structural covariance network, we proposed a new framework to classify ASD patients with sMRI data from the ABIDE consortium. Moreover, gradient-weighted class activation mapping (Grad-CAM) was applied to characterize the weight of features contributing to the classification. The experimental results showed that our proposed method outperforms the currently used methods for classifying ASD patients with the ABIDE data and achieves a high classification accuracy of 71.8% across different sites. Furthermore, the discriminative features were found to be mainly located in the prefrontal cortex and cerebellum, which may be the early biomarkers for the diagnosis of ASD. Our study demonstrated that CNN is an effective tool to build the framework for the diagnosis of ASD with individual structural covariance brain network.

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10. Harris HK, Lee C, Sideridis GD, Barbaresi WJ, Harstad E. Identifying Subgroups of Toddlers with DSM-5 Autism Spectrum Disorder Based on Core Symptoms. J Autism Dev Disord. 2021.

The objective of this study was to identify subgroups of toddlers with DSM-5 ASD based on core ASD symptoms using a person-based analytical framework. This is a retrospective study of 500 toddlers (mean age 26 months, 79% male) with DSM-5 ASD. Data were analyzed using latent class analyses in which profiles were formed based on ASD symptomatology. Social communication (SC) symptoms favored a three-class solution, while restricted/repetitive behaviors (RRBs) favored a two-class solution. Classes with higher consistency of SC deficits were younger, with lower developmental functioning. The class with more RRBs was older, with higher functioning. If confirmed in other populations, these classes may more precisely characterize subgroups within the heterogeneous group of toddlers at time of ASD diagnosis.

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11. Jenabi E, Bashirian S, Asali Z, Seyedi M. Association between small for gestational age and risk of autism spectrum disorders : a meta-analysis. Clinical and experimental pediatrics. 2021.

The relationship between small for gestational age (SGA) and autism spectrum disorders (ASD) remains unknown. This meta-analysis aimed to investigate the relationship between SGA and the risk of ASD. We searched PubMed, Web of Science, and Scopus databases from inception to November 2020. The heterogeneity across studies was explored using the I2 statistic. The possibility of publication bias was assessed using Begg’s test. The results were reported using the odds ratio (OR) and 95% confidence interval (CI) using a random-effects model. The literature search yielded 824 articles with 8,752,138 participants. We assessed the association between SGA and the risk of ASD in cohort and case-control studies. Based on the random-effects model, compared with SGA, the estimated OR of the risk of ASD was 1.17 (95% CI, 1.09-1.24). Therefore, there was a significant association between SGA and the risk of ASD. Based on OR reports in epidemiological studies, we showed that SGA is a risk factor for and can increase the risk of ASD. The association between SGA and ASD risk has further relevance to the current public health emphasis on appropriate pre-pregnancy weight and pregnancy weight gain.

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12. Jiménez-Espinoza C, Marcano Serrano F, González-Mora JL. N-Acetylaspartyl-Glutamate Metabolism in the Cingulated Cortices as a Biomarker of the Etiology in ASD : A (1)H-MRS Model. Molecules (Basel, Switzerland). 2021 ; 26(3).

As brain functional resonance magnetic studies show an aberrant trajectory of neurodevelopment, it is reasonable to predict that the degree of neurochemical abnormalities indexed by magnetic resonance spectroscopy ((1)H-MRS) might also change according to the developmental stages and brain regions in autism spectrum disorders (ASDs). Since specific N-Acetyl-aspartate (NAA) changes in children’s metabolism have been found in the anterior cingulate cortex (ACC) but not in the posterior cingulate cortex (PCC), we analyzed whether the metabolites of ASD youths change between the cingulate cortices using (1)H-MRS. l-glutamate (Glu) and l-Acetyl-aspartate (NAA) are products from the N-Acetyl-aspartyl-glutamate (NAAG) metabolism in a reaction that requires the participation of neurons, oligodendrocytes, and astrocytes. This altered tri-cellular metabolism has been described in several neurological diseases, but not in ASD. Compared to the typical development (TD) group, the ASD group had an abnormal pattern of metabolites in the ACC, with a significant increase of glutamate (12.10 ± 3.92 mM ; p = 0.02) ; additionally, N-Acetyl-aspartyl-glutamate significantly decreased (0.41 ± 0.27 mM ; p = 0.02) within ASD metabolism abnormalities in the ACC, which may allow the development of new therapeutic possibilities.

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13. Kulasinghe K, Whittingham K, Mitchell AE. Mental health, broad autism phenotype and psychological inflexibility in mothers of young children with autism spectrum disorder in Australia : A cross-sectional survey. Autism. 2021 : 1362361320984625.

Mothers of children with autism tend to have poorer mental health outcomes compared to most mothers. Lack of social support, parenting challenges and relationship difficulties are more common for mothers of children with autism and can all affect maternal mental health. Mothers of children with autism are also more likely to have some autistic features, called the broad autism phenotype, that can contribute to poorer mental health ; however, how these factors relate to one another are unclear. This study found that mothers who were less flexible in their thinking and behaviour and had more difficult parenting experiences tended to have poorer mental health. Mothers with more autistic features were less flexible in their thinking and behaviour, which, in turn, was linked to greater symptoms of depression, anxiety and stress. Mothers with greater autistic features also reported more difficult parenting experiences, which was in turn linked with greater symptoms of anxiety and depression. This study suggests that supporting mothers of young children with autism to manage parenting challenges and become more flexible with their thinking and behaviour could help to improve their mental health.

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14. Mahdi SS, Jafri HA, Allana R, Amenta F, Khawaja M, Qasim SSB. Oral Manifestations of Rett Syndrome-A Systematic Review. Int J Environ Res Public Health. 2021 ; 18(3).

Rett Syndrome is an x linked developmental disorder which becomes apparent in females after 6 to 18 months of age. It leads to severe impairments including loss of speech, loss of hand movements/manual dexterity, characteristic hand movements such as hang wringing and intellectual disability/learning problems. This systematic review was carried out to identify the dental manifestation of Rett syndrome and to shed light on treatment options available for oral health problems associated with Rett syndrome. A systematic literature search was conducted on the PubMed, Scopus, Biomed, Web of Science, Embase, Google Scholars, Cochrane and CINAHL using the following entries : Rett syndrome (n = 3790), Oral health and Rett syndrome (n = 17), dental health of Rett syndrome patients (n = 13), and the MeSH terms listed below : Rett syndrome and Oral Health (n = 17), Rett syndrome and dentistry (n = 29). The final review included 22 search articles. The most common oral findings was bruxism. Masseteric hypertrophy was also reported. Anterior open bite and non-physiological tooth wear was observed. Other oral manifestations of Rett syndrome included mouth breathing, tongue thrusting, digit/thumb sucking, high arch palate. Increased awareness and dental education amongst dentists and assistants regarding the dental manifestations of Rett syndrome and similar neurodevelopmental disorders is required to improve the level of care and empathy they can provide to these differently able patients. Research on dental aspects of Rett is scarce and this remains a neglected topic.

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15. Mansouri M, Pouretemad H, Wegener G, Roghani M, Afshari M, Mallard C, Ardalan M. Dual Profile of Environmental Enrichment and Autistic-Like Behaviors in the Maternal Separated Model in Rats. International journal of molecular sciences. 2021 ; 22(3).

BACKGROUND : Environmental Enrichment (EE) has been suggested as a possible therapeutic intervention for neurodevelopmental disorders such as autism. Although the benefits of this therapeutic method have been reported in some animal models and human studies, the unknown pathophysiology of autism as well as number of conflicting results, urge for further examination of the therapeutic potential of EE in autism. Therefore, the aim of this study was to examine the effects of environmental enrichment on autism-related behaviors which were induced in the maternal separation (MS) animal model. MATERIAL AND METHODS : Maternally separated (post-natal day (PND) 1-14, 3h/day) and control male rats were at weaning (PND21) age equally divided into rats housed in enriched environment and normal environment. At adolescence (PND42-50), the four groups were behaviorally tested for direct social interaction, sociability, repetitive behaviors, anxiety behavior, and locomotion. Following completion of the behavioral tests, the blood and brain tissue samples were harvested in order to assess plasma level of brain derived neurotrophic factor (BDNF) and structural plasticity of brain using ELISA and stereological methods respectively. RESULTS : We found that environmental enrichment reduced repetitive behaviors but failed to improve the impaired sociability and anxiety behaviors which were induced by maternal separation. Indeed, EE exacerbated anxiety and social behaviors deficits in association with increased plasma BDNF level, larger volume of the hippocampus and infra-limbic region and higher number of neurons in the infra-limbic area (p < 0.05). Conclusion : We conclude that environmental enrichment has a significant improvement effect on the repetitive behavior as one of the core autistic-like behaviors induced by maternal separation but has negative effect on the anxiety and social behaviors which might have been modulated by BDNF.

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16. Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J, Wright CF, FitzPatrick DR, Firth HV, Hurles ME. The contribution of X-linked coding variation to severe developmental disorders. Nat Commun. 2021 ; 12(1) : 627.

Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders.

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17. Martins Halpern C, Caldeira da Silva P, Costa D, Nascimento MJ, Mesquita Reis J, Martins MT, Pinto Ferreira B, Santos I, Carvalho L, Paiva Gomes M, Martins M, Pimentel MJ, Lopes P, Silva P, Rapazote R, Catarino S, Aires Pereira S, Pereira S, Afonso S. [Autism Spectrum Disorder in Infancy and Early Childhood : The Model of the Centro de Estudos do Bebé e da Criança for Diagnosis and Therapeutic Intervention]. Acta medica portuguesa. 2021.

INTRODUCTION : The Centro de Estudos do Bebé e da Criança in Hospital Dona Estefânia has organized a multidisciplinary model for children under three with suspected autism spectrum disorder, thus implementing the recent guidelines established by the Directorate General for Health. The aim of this study is to describe this model and case series. MATERIAL AND METHODS : A retrospective descriptive study of observed children with suspected ASD. They were observed according to the model of the Centro de Estudos do Bebé e da Criança and DC:0-5TM classification, between January 2018 and September 2019. RESULTS : The study included 178 children. The average age at the initial assessment was 27 months. From the total sample, 116 children concluded the diagnostic sessions (axis I) : Autism Spectrum Disorder/Early Atypical (36%), Developmental Language Disorder (18%), Other (19%). Factors of axes II, III, IV and V of DC:0-5TM were determinant for clinical diagnosis in 26%. DISCUSSION : Of 116 children, 36% were diagnosed with Autism Spectrum Disorder. This highlights the diagnostic challenge posed by neurodevelopmental disorders in early infancy. The sample shows that the characteristics of the relationship with the caregiver (axis II), presence of physical conditions (axis III), psycho-social stressors (axis IV) and developmental trajectory (axis V) have a significant clinical impact. In the future, the initial assessment should take place well before the age of 27 months because of the impact on prognosis. CONCLUSION : This model is a pioneering approach in Portugal. It promotes a common approach of Child and Adolescent Psychiatry and Neuropediatrics/Developmental Pediatrics in early infancy. Moreover, it increases the diagnostic acuity of Autism Spectrum Disorders and early therapeutic intervention.

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18. Mazurek MO, Kuhlthau K, Parker RA, Chan J, Sohl K. Autism and General Developmental Screening Practices Among Primary Care Providers. J Dev Behav Pediatr. 2021.

OBJECTIVE : Using standardized screening tools increases accuracy in early identification of autism. The American Academy of Pediatrics recommends systematic developmental screening at all 9-, 18-, and 24- or 30-month well-child visits (WCVs) and autism-specific screening at all 18- and 24-month WCVs. The study objectives were to examine the extent to which these guidelines have been adopted in practice among primary care providers (PCPs) and to identify potential provider-level factors associated with screening practices. METHOD : Participants included 94 PCPs (79% pediatricians) from 13 states enrolled in a study of an autism training program. Self-report and chart-review data collected before training were examined. Screening practices were assessed through chart review of all 9-, 18-, and 24-month WCVs within a 30-day window. RESULTS : Sixty-four percent of PCPs administered developmental screening tools at all 9-month WCVs, and 62% at all 18-month WCVs. Fifty-one percent administered autism screening tools at all 18-month WCVs, and 41% at all 24-month WCVs. Screening practices varied by provider type (pediatrician vs other PCP), self-efficacy in screening and identification, and previous autism training (autism screening only), but not by years of experience. CONCLUSION : Overall, general developmental and autism-specific screenings are not being consistently administered across recommended WCVs in primary care practices. Provider self-efficacy in autism identification and screening and previous autism training were associated with increased autism screening. As such, these results suggest a need for increased training and dissemination of information on screening implementation for practicing PCPs.

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19. McDermott C. Theorising the neurotypical gaze : autistic love and relationships in The Bridge (Bron/Broen 2011-2018). Medical humanities. 2021.

In popular media, autistic subjectivity is most often produced through the lens of the neurotypical gaze. Dominant understandings of autism therefore tend to focus on perceived deficits in social communication and relationships. Accordingly, this article has two primary concerns. First, it uses the Danish/Swedish television series The Bridge (Bron/Broen, 2011-2018) and critical responses to the series as examples of how the neurotypical gaze operates, concentrating on the pleasures derived from looking at autism, how autism is ’fixed’ (Frantz Fanon, 1986) as a socially undesirable subject position, and the self-interested focus of the gaze. Second, it analyses key scenes from the series to expose and challenge the dominance of the neurotypical perspective in scholarly accounts of autistic sexuality and relationality. Using Lauren Berlant’s (2012) work on love, I argue that the non-normative ways of being constructed by the series do not fit easily within neuroconventional frameworks of love and desire. Consequently, autistic expressions of love are rendered both undesirable and illegible to the neurotypical gaze. The article therefore offers a flexible framework for understanding how the neurotypical gaze functions across cultural and academic spheres and gives vital insight into how autistic love and relationships are narratively constructed.

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20. O’Sullivan K, Clark S, McGrane A, Rock N, Burke L, Boyle N, Joksimovic N, Marshall K. A Qualitative Study of Child and Adolescent Mental Health during the COVID-19 Pandemic in Ireland. Int J Environ Res Public Health. 2021 ; 18(3).

Mitigating the adverse physical health risks associated with COVID-19 has been a priority of public health incentives. Less attention has been placed on understanding the psychological factors related to the global pandemic, especially among vulnerable populations. This qualitative study sought to understand the experiences of children and adolescents during COVID-19. This study interviewed 48 families during the COVID-19 pandemic restrictions, and a national lockdown, to understand its impacts. The study used an Interpretative Phenomenological Analysis (IPA) methodology. Parents and children discussed the negative impact of the restrictions on young people’s wellbeing. Children and adolescents experienced adverse mental health effects, including feelings of social isolation, depression, anxiety, and increases in maladaptive behaviour. Families with children with Autism Spectrum Disorders reported increased mental health difficulties during this period mostly due to changes to routine. The findings highlight the impact of severe restrictions on vulnerable populations’ wellbeing and mental health outcomes, including children, adolescents, and those with Autism spectrum disorder (ASD).

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21. Panisi C, Guerini FR, Abruzzo PM, Balzola F, Biava PM, Bolotta A, Brunero M, Burgio E, Chiara A, Clerici M, Croce L, Ferreri C, Giovannini N, Ghezzo A, Grossi E, Keller R, Manzotti A, Marini M, Migliore L, Moderato L, Moscone D, Mussap M, Parmeggiani A, Pasin V, Perotti M, Piras C, Saresella M, Stoccoro A, Toso T, Vacca RA, Vagni D, Vendemmia S, Villa L, Politi P, Fanos V. Autism Spectrum Disorder from the Womb to Adulthood : Suggestions for a Paradigm Shift. Journal of personalized medicine. 2021 ; 11(2).

The wide spectrum of unique needs and strengths of Autism Spectrum Disorders (ASD) is a challenge for the worldwide healthcare system. With the plethora of information from research, a common thread is required to conceptualize an exhaustive pathogenetic paradigm. The epidemiological and clinical findings in ASD cannot be explained by the traditional linear genetic model, hence the need to move towards a more fluid conception, integrating genetics, environment, and epigenetics as a whole. The embryo-fetal period and the first two years of life (the so-called ’First 1000 Days’) are the crucial time window for neurodevelopment. In particular, the interplay and the vicious loop between immune activation, gut dysbiosis, and mitochondrial impairment/oxidative stress significantly affects neurodevelopment during pregnancy and undermines the health of ASD people throughout life. Consequently, the most effective intervention in ASD is expected by primary prevention aimed at pregnancy and at early control of the main effector molecular pathways. We will reason here on a comprehensive and exhaustive pathogenetic paradigm in ASD, viewed not just as a theoretical issue, but as a tool to provide suggestions for effective preventive strategies and personalized, dynamic (from womb to adulthood), systemic, and interdisciplinary healthcare approach.

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22. Priyashantha AKH, Attanayake RN. Can Anaerobic Soil Disinfestation (ASD) be a Game Changer in Tropical Agriculture ?. Pathogens (Basel, Switzerland). 2021 ; 10(2).

Anaerobic soil disinfection (ASD) has been identified as an alternative soil-borne pathogen control strategy to chemical fumigation. ASD involves the application of an easily liable carbon source followed by irrigation to field capacity and maintenance of an anaerobic condition for a certain period. A literature search undertaken on ASD found that more than 50 comprehensive research projects have been conducted since its first discovery in 2000. Most of these studies were conducted in the USA and in the Netherlands. Though the exact mechanism of ASD in pathogen control is unknown, promising results have been reported against a wide range of pathogens such as fungi, nematodes, protists, and oomycetes. However, it is interesting to note that, except for a few studies, ASD research in the developing world and in the tropical countries has lagged behind. Nevertheless, with soil quality depletion, reduction in arable lands, and exponential population growth, a drastic change to the current agricultural practices should be adapted since yield gain has reached a plateau for major staple crops. Under such circumstances, we identified the gaps and the potentials of ASD in tropical agricultural systems and proposed promising biodegradable materials.

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23. Prosperi M, Turi M, Guerrera S, Napoli E, Tancredi R, Igliozzi R, Apicella F, Valeri G, Lattarulo C, Gemma A, Santocchi E, Calderoni S, Muratori F, Vicari S. Sex Differences in Autism Spectrum Disorder : An Investigation on Core Symptoms and Psychiatric Comorbidity in Preschoolers. Frontiers in integrative neuroscience. 2020 ; 14 : 594082.

Findings regarding sex differences in autism spectrum disorder (ASD), as far as core symptoms and psychiatric comorbidities (PC) are concerned, are inconsistent, inconclusive, or conflicting among studies. The lower prevalence of ASD in females than in males and the age and intelligence quotient (IQ) heterogeneity among samples made it difficult to investigate these differences. This case-control study tries to deepen the impact of sex differences on core symptoms of autism and PC in 214 preschoolers with ASD (mean age, 45.26) without impairment in non-verbal IQ (nvIQ ≥70). A total of 107 ASD females (mean age, 44.51 ± 13.79 months) were matched one by one with 107 males (mean age, 46.01 ± 13.42 months) for chronological age (±6 months) and nvIQ (±6 points). We used the Autism Diagnostic Observation Schedule 2 (ADOS-2) and the Child Behavior Checklist (CBCL) 1.5-5 to explore autism severity and PC. The results highlight that ASD females did not significantly differ from ASD males regarding the severity of autism. Statistically significant lower levels of emotionally reactive (p = 0.005, η(2) = 0.04), anxious-depressed (p = 0.001, η (2) = 0.05), internalizing problems (p = 0.04, η (2) = 0.02), and DSM-Oriented Scales anxiety problems (p = 0.02, η (2) = 0.04) in ASD females than in ASD males were also detected. Our findings of no difference in the autism severity and lower internalizing problems in females than males with ASD extend the knowledge of autism in females during preschool years. Compared to other similar studies on this topic, we can state that these results are not supported by differences in nvIQ between sexes nor by the presence of cognitive impairment. It confirms the need for clinicians to consider sex differences when describing autism psychopathology.

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24. Shin S, Santi A, Huang S. Conditional Pten knockout in parvalbumin- or somatostatin-positive neurons sufficiently leads to autism-related behavioral phenotypes. Molecular brain. 2021 ; 14(1) : 24.

Disrupted GABAergic neurons have been extensively described in brain tissues from individuals with autism spectrum disorder (ASD) and animal models for ASD. However, the contribution of these aberrant inhibitory neurons to autism-related behavioral phenotypes is not well understood. We examined ASD-related behaviors in mice with conditional Pten knockout in parvalbumin (PV)-expressing or somatostatin (Sst)-expressing neurons, two common subtypes of GABAergic neurons. We found that mice with deletion of Pten in either PV-neurons or Sst-neurons displayed social deficits, repetitive behaviors and impaired motor coordination/learning. In addition, mice with one copy of Pten deletion in PV-neurons exhibited hyperlocomotion in novel open fields and home cages. We also examined anxiety behaviors and found that mice with Pten deletion in Sst-neurons displayed anxiety-like behaviors, while mice with Pten deletion in PV-neurons exhibited anxiolytic-like behaviors. These behavioral assessments demonstrate that Pten knockout in the subtype of inhibitory neurons sufficiently gives rise to ASD-core behaviors, providing evidence that both PV- and Sst-neurons may play a critical role in ASD symptoms.

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25. Smith SL, McQuade HB. Exploring the health of families with a child with autism. Autism. 2021 : 1362361320986354.

Families are important for the overall growth and development of a child. The health of a family is foundational to the everyday life in which a child and family can blossom. Families with a child with autism have a family life that has challenges for many reasons including that parents can be stressed from trying to figure out how to be a good parent for their child with autism. We wanted to know two things : (1) what is family health for families of a child with autism and (2) what affects families trying to be their healthiest. We wanted to know the answers to these questions from families themselves, including parents (not just moms) and children, because they are the best experts. We talked to 16 families including 16 mothers, 8 fathers, and 32 children (18 with autism). Families shared that being a healthy family was a journey with ups and downs and that families were not always perfect. It helped when families knew about themselves as a family such as knowing what they liked and did not like to do, and knowing what the different people in the family needed. Families said that what affected their family’s health was being together, keeping their days not too busy, stress, autism itself, having helpers like friends, grandparents, therapists, and having money to pay for services. We hope that knowing these answers will guide service providers of people with autism to think about healthy families.

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26. Tsuchiya KJ, Hakoshima S, Hara T, Ninomiya M, Saito M, Fujioka T, Kosaka H, Hirano Y, Matsuo M, Kikuchi M, Maegaki Y, Harada T, Nishimura T, Katayama T. Diagnosing Autism Spectrum Disorder Without Expertise : A Pilot Study of 5- to 17-Year-Old Individuals Using Gazefinder. Frontiers in neurology. 2020 ; 11 : 603085.

Atypical eye gaze is an established clinical sign in the diagnosis of autism spectrum disorder (ASD). We propose a computerized diagnostic algorithm for ASD, applicable to children and adolescents aged between 5 and 17 years using Gazefinder, a system where a set of devices to capture eye gaze patterns and stimulus movie clips are equipped in a personal computer with a monitor. We enrolled 222 individuals aged 5-17 years at seven research facilities in Japan. Among them, we extracted 39 individuals with ASD without any comorbid neurodevelopmental abnormalities (ASD group), 102 typically developing individuals (TD group), and an independent sample of 24 individuals (the second control group). All participants underwent psychoneurological and diagnostic assessments, including the Autism Diagnostic Observation Schedule, second edition, and an examination with Gazefinder (2 min). To enhance the predictive validity, a best-fit diagnostic algorithm of computationally selected attributes originally extracted from Gazefinder was proposed. The inputs were classified automatically into either ASD or TD groups, based on the attribute values. We cross-validated the algorithm using the leave-one-out method in the ASD and TD groups and tested the predictability in the second control group. The best-fit algorithm showed an area under curve (AUC) of 0.84, and the sensitivity, specificity, and accuracy were 74, 80, and 78%, respectively. The AUC for the cross-validation was 0.74 and that for validation in the second control group was 0.91. We confirmed that the diagnostic performance of the best-fit algorithm is comparable to the diagnostic assessment tools for ASD.

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27. White EN, Ayres KM, Snyder SK, Cagliani RR, Ledford JR. Augmentative and Alternative Communication and Speech Production for Individuals with ASD : A Systematic Review. J Autism Dev Disord. 2021.

This review evaluated the effects of augmentative and alternative communication (AAC) on speech development in children with autism spectrum disorders (ASD) ; replicated, updated, and extended the systematic review by Schlosser and Wendt (American Journal of Speech-Language Pathology 17:212-230, 2008). Twenty-five single case design articles and three group design articles published between 1975 and May 2020 met inclusion criteria related to participant characteristics, intervention type, design, and visual analysis of dependent variable outcomes. Overall, AAC resulted in improved speech production ; however, speech gains that did occur did not surpass AAC use.

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28. Ye Q, Liu L, Lv S, Cheng S, Zhu H, Xu Y, Zou X, Deng H. The Gestures in 2-4-Year-Old Children With Autism Spectrum Disorder. Front Psychol. 2021 ; 12 : 604542.

Deficits in gestures act as early signs of impairment in social interaction (SI) and communication in children with autism spectrum disorder (ASD). However, the pieces of literature on atypical gesture patterns in ASD children are contradictory. This investigation aimed to explore the atypical gesture pattern of ASD children from the dimensions of quantity, communicative function, and integration ability ; and its relationship with social ability and adaptive behavior. We used a semi-structured interactive play to evaluate gestures of 33 ASD children (24-48 months old) and 24 typically developing (TD) children (12-36 months old). And we evaluated the social ability, adaptive behavior, and productive language of ASD and TD children by using the Adaptive Behavior Assessment System version II (ABAS-II) and Chinese Communication Development Inventory (CCDI). No matter the total score of CCDI was corrected or not, the relative frequency of total gestures, behavior regulation (BR) gestures, SI gestures, and joint attention (JA) gestures of ASD children were lower than that of TD children, as well as the proportion of JA gestures. However, there was no significant group difference in the proportion of BR and SI gestures. Before adjusting for the total score of CCDI, the relative frequency of gestures without vocalization/verbalization integration and vocalization/verbalization-integrated gestures in ASD children was lower than that in TD children. However, after matching the total score of CCDI, only the relative frequency of gestures without vocalization/verbalization integration was lower. Regardless of the fact that the total score of CCDI was corrected or not, the relative frequency and the proportion of eye-gaze-integrated gestures in ASD children were lower than that in TD children. And the proportion of gestures without eye-gaze integration in ASD children was higher than that in TD children. For ASD children, the social skills score in ABAS-II was positively correlated with the relative frequency of SI gesture and eye-gaze-integrated gestures ; the total score of ABAS-II was positively correlated with the relative frequency of total gestures and eye-gaze-integrated gestures. In conclusion, ASD children produce fewer gestures and have deficits in JA gestures. The deficiency of integrating eye gaze and gesture is the core deficit of ASD children’s gesture communication. Relatively, ASD children might be capable of integrating vocalization/verbalization into gestures. SI gestures and the ability to integrate gesture and eye gaze are related to social ability. The quantity of gestures and the ability to integrate gesture with eye gaze are related to adaptive behavior. Clinical Trial Registration : www.ClinicalTrials.gov, identifier ChiCTR1800019679.

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