Pubmed du 22/06/21

Pubmed du jour

1. Arnett AB, Wang T, Eichler EE, Bernier RA. Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders. Journal of neurodevelopmental disorders. 2021; 13(1): 24.

BACKGROUND: Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are common diagnoses with highly heterogeneous phenotypes and etiology. The genetics-first approach to research on NDDs has led to the identification of hundreds of genes conferring risk for ASD, ID, and related symptoms. MAIN BODY: Although relatively few individuals with NDDs share likely gene-disruptive (LGD) mutations in the same gene, characterization of overlapping functions, protein networks, and temporospatial expression patterns among these genes has led to increased understanding of the neurobiological etiology of NDDs. This shift in focus away from single genes and toward broader gene-brain-behavior pathways has been accelerated by the development of publicly available transcriptomic databases, cell type-specific research methods, and sequencing of non-coding genomic regions. CONCLUSIONS: The genetics-first approach to research on NDDs has advanced the identification of critical protein function pathways and temporospatial expression patterns, expanding the impact of this research beyond individuals with single-gene mutations to the broader population of patients with NDDs.

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2. Ault S, Breitenstein SM, Tucker S, Havercamp SM, Ford JL. Caregivers of Children with Autism Spectrum Disorder in Rural Areas: A Literature Review of Mental Health and Social Support. Journal of pediatric nursing. 2021; 61: 229-39.

PROBLEM: Caregivers of children with Autism Spectrum Disorder (ASD) report high levels of stress, social isolation, and poor mental health. Social and emotional support may buffer negative effects of stress for caregivers of children with ASD, however, those living in rural areas may be disadvantaged due to social isolation and increased distance from resources. This scoping review examined the literature regarding the mental health and impact of support for rural caregivers of children with ASD. ELIGIBILITY CRITERIA: Articles were limited to those available in the English language and conducted in a high income country. Articles had to include a population of rural caregivers of children with ASD and focus on caregiver mental health and/or the impact of support on caregiver mental health. SAMPLE: Searches were conducted with Embase, PubMed, CINAHL, ERIC, and PsycINFO and 22 articles were included. RESULTS: Study findings indicate overall poor mental health for rural caregivers of children with ASD. Formal and informal support appear to be beneficial in decreasing stress for rural caregivers of children with ASD. However, a few studies indicated that formal support may add stress to rural caregivers. CONCLUSION: There is limited information regarding support needs and the impact of support services on the mental health of rural caregivers of children with ASD. IMPLICATIONS: There is a need to increase access to support resources in rural areas for caregivers of children with ASD. Healthcare professionals, including nurses, can play a fundamental role in supporting, educating, and connecting caregivers to other support services.

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3. Azimi S, Lima F, Slack-Smith L, Bourke J, Calache H, Junaid M, Leonard H. Factors associated with dental hospitalisations in children with intellectual disability or autism spectrum disorder: a Western Australian population-based retrospective cohort study. Disability and rehabilitation. 2021: 1-9.

PURPOSE: This study investigated dental hospitalisations in Western Australian (WA) children with intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years. METHODS: Data on WA live births from 1983 to 2004 from the WA Midwives Notification System were linked to the Intellectual Disability Exploring Answers database, the WA Hospital Morbidity Data System, and the Western Australian Birth Defects Registry databases. Children were followed from birth to 2010 and the data grouped into three age-groups. Primary and secondary admissions for relevant dental diagnoses were identified and factors associated with having a dental hospitalisation investigated. RESULTS: There were 1366, 1596, and 780 dental hospitalisations amongst 1122, 1154, and 609 children with ID and/or ASD in the 0-6, >6-12, and >12-18 year age groups, respectively. Children with severe ID were much more likely to be hospitalised than those with mild/moderate ID. More socioeconomically disadvantaged children were less likely to be hospitalised than children whose parents were socially advantaged. CONCLUSIONS: There is concern that more vulnerable children in the WA community with ID or ASD are receiving an inadequate level of dental services compared with other groups resulting in potentially preventable hospitalisations, a situation in need of urgent remediation.Implications for rehabilitationLittle is known about why some children with intellectual disability (ID) or autism are being hospitalised for their dental care and others are not.Children with disability whose families are socioeconomically disadvantaged should have equivalent opportunity to receive optimal dental care.Dental practitioners at all levels need training and confidence in treating children with ID.

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4. Chen B. A Preliminary Study of Abnormal Centrality of Cortical Regions and Subsystems in Whole Brain Functional Connectivity of Autism Spectrum Disorder Boys. Clinical EEG and neuroscience. 2022; 53(1): 3-11.

The abnormal cortices of autism spectrum disorder (ASD) brains are uncertain. However, the pathological alterations of ASD brains are distributed throughout interconnected cortical systems. Functional connections (FCs) methodology identifies cooperation and separation characteristics of information process in macroscopic cortical activity patterns under the context of network neuroscience. Embracing the graph theory concepts, this paper introduces eigenvector centrality index (EC score) ground on the FCs, and further develops a new framework for researching the dysfunctional cortex of ASD in holism significance. The important process is to uncover noticeable regions and subsystems endowed with antagonistic stance in EC-scores of 26 ASD boys and 28 matched healthy controls (HCs). For whole brain regional EC scores of ASD boys, orbitofrontal superior medial cortex, insula R, posterior cingulate gyrus L, and cerebellum 9 L are endowed with different EC scores significantly. In the brain subsystems level, EC scores of DMN, prefrontal lobe, and cerebellum are aberrant in the ASD boys. Generally, the EC scores display widespread distribution of diseased regions in ASD brains. Meanwhile, the discovered regions and subsystems, such as MPFC, AMYG, INS, prefrontal lobe, and DMN, are engaged in social processing. Meanwhile, the CBCL externalizing problem scores are associated with EC scores.

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5. Cheung Y, Man Kit Cheung A, Ho Yan Luk E, Man Fung Y, Mountjoy T, Cihon JH, Leaf JB. An evaluation of a comprehensive training package for interventionists providing behavioral intervention for children with autism spectrum disorder. International journal of developmental disabilities. 2020; 66(5): 358-69.

There has been rapid growth in the number of behavior analysts and interventionists in the world today. With this growth it is imperative to ensure that each behavior analyst and interventionist receives quality training. The training should be comprehensive (i.e. training multiple areas of behavior analysis) and should not conclude until the trainee is able to perform each behavior analytic procedure to a high degree of fidelity. The purpose of this study was to evaluate the effectiveness of a training package to train four participants how to implement multiple behavior analytic procedures. Using a multiple baseline design across participants the results indicate that each participant improved their implementation of behavioral intervention. Additionally, the participants maintained their skills over time.

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6. Davis S, Thomson K, Magnacca C. Evaluation of a caregiver training program to teach help-seeking behavior to children with autism spectrum disorder. International journal of developmental disabilities. 2020; 66(5): 348-57.

Alarmingly, nearly half of children with autism spectrum disorder (ASD) engage in behaviour that causes separation from caregivers. More than half of these children go missing for a concerning duration of time and/or enter into dangerous situations. Caregivers often do not feel prepared to address these serious concerns. This study evaluated the effectiveness of behaviour skills training (BST) for teaching caregivers how to also use BST in conjunction with a tactile prompt to teach their children with ASD help-seeking behaviour. Participants included five caregiver-child dyads. Children were diagnosed with ASD and were between the ages of 5-10 years. A non-concurrent multiple probe design across three dyads with a concurrent replication across an additional two dyads was used to evaluate whether the BST procedure increased child safety responses when separated from caregivers in store settings. Child behaviours were measured using a 3-step help-seeking behaviour chain: (1) calling out for their caregiver in a louder than conversational voice, (2) locating a store employee, and (3) informing the employee that they were lost. All children met mastery criteria (a safety response score of 3 across two consecutive trials), and four of the caregivers were able to successfully fade the tactile prompting device in the natural environment. This study contributes to the limited empirical research on caregiver implemented safety training using BST to teach help-seeking behaviour to children with ASD.

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7. Demir A, Özcan Ö. The nutritional behavior of children with autism spectrum disorder, parental feeding styles, and anthropometric measurements. Nordic journal of psychiatry. 2022; 76(1): 64-70.

BACKGROUND: Although autism spectrum disorder (ASD) is known to include problems relating to nutrition, information about nutritional behavior, caregiver feeding styles, and anthropometric measurements is still limited. AIMS: We aimed to assess the nutritional behavior, anthropometric measurements, and caregiver feeding styles of children with ASD. METHOD: One hundred and four children with ASD and 100 controls were enrolled in the study. Children’s weight and height were measured and recorded by the researchers. The Children’s Eating Behavior Questionnaire, Parental Feeding Style Questionnaire, Development Assessment Form, and Sociodemographic Data Form were conducted by their caregivers. RESULTS: Children with ASD were difficult to feed as babies, experienced more problems in the transition to supplementary food, were more selective about food, and were fed diets with a more limited variety than the control group. The BMI z-scores for children with ASD were higher than those for children without ASD, while their height z-scores were lower. Children with ASD displayed more responsiveness to food, emotional overeating, enjoyment of food, desire for drinks, emotional undereating, and food selectivity behaviors, while the parents of these children were found to use more emotional feeding, instrumental feeding, and tolerance-controlled feeding styles than the parents of the controls. CONCLUSIONS: Children with ASD are more selective about foods and have greater difficulty in switching to supplementary food. The BMI-z score for children with ASD is higher and the height-z score is lower. Children with ASD have different eating and feeding styles compared to children in the control group.

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8. Dhadwal AK, Najdowski AC, Tarbox J. A Systematic Replication of Teaching Children With Autism and Other Developmental Disabilities Correct Responding to False-Belief Tasks. Behavior analysis in practice. 2021; 14(2): 378-86.

Behavioral research has demonstrated that children with autism spectrum disorder can be taught to recognize the false beliefs of others using video modeling (e.g., Charlop-Christy & Daneshvar Journal of Positive Behavior Interventions, 5(1), 12-21, 2003; LeBlanc et al. Journal of Applied Behavior Analysis, 36(2), 253-257, 2003). The current study extended such research by teaching three children diagnosed with autism spectrum disorder and other developmental disabilities to respond appropriately to false-belief tasks using behavioral intervention strategies conducted in the natural environment with people in their enviornment. We used a nonconcurrent multiple-baseline across-participants design to evaluate the use of multiple-exemplar training, prompting, and reinforcement for training correct responses with two false-belief tasks: the hide-and-seek task and the M&Ms task. We also conducted a pre/posttest of an untrained false-belief task, the Sally-Anne task. All participants learned to pass the hide-and-seek task and the M&Ms task and improved on their performance on the Sally-Anne task during the posttest.

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9. Dixon MR, Belisle J, Hayes SC, Stanley CR, Blevins A, Gutknecht KF, Partlo A, Ryan L, Lucas C. Evidence From Children with Autism that Derived Relational Responding is a Generalized Operant. Behavior analysis in practice. 2021; 14(2): 295-323.

We conducted an empirical examination of derived relational responding as a generalized operant and concurrently evaluated the validity and efficacy of program items contained in the Promoting the Emergence of Advanced Knowledge – Equivalence (PEAK-E) curriculum. A first study utilized a multiple-baseline across-skills experimental arrangement to determine the efficacy of equivalence-based instruction guided by PEAK-E, replicated across 11 children with autism. A total of 33 individualized skills were taught, and the subsequent emergence of untrained relations was tested throughout the investigation. The mastery criterion was achieved for 29 of the 33 instructional targets. Additionally, for 3 participants, results were again replicated with a novel set of stimuli. A second study evaluated the degree to which multiple-exemplar equivalence-based instruction led to the emergence of derived relational responding as a generalized operant. The organized nature of the PEAK curriculum allowed the impact on derived relational responding to be compared to that produced by earlier PEAK models that are focused on the direct training of traditional verbal operants. PEAK-E instruction was introduced in a multiple-baseline design across two participants, with a third staying in a training baseline throughout. Increases in derived relational responding using novel, untrained stimuli were only observed when multiple-exemplar equivalence-based instruction was introduced. Taken together, these results provide support for derived relational responding as a generalized operant and demonstrate the utility of conducting larger scale evaluations of higher order behavioral phenomena in single-case experimental arrangements.

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10. Finn LL. Improving interactions between parents, teachers, and staff and individuals with developmental disabilities: a review of caregiver training methods and results. International journal of developmental disabilities. 2020; 66(5): 390-402.

Individuals with developmental disabilities (DD) depend on caregivers to meet physical, emotional, and social needs. This makes relationships with caregivers particularly important to quality of life. Without intervention, social interactions may be limited and ineffective, affecting relationships with caregivers and thus quality of life for individuals with DD. Training may improve interactions between caregivers and individuals with DD. Training content and methods, however, are heterogenous. A review was conducted to identify common elements and methods and analyze variables shown to be most effective in improving outcomes for caregivers and individuals with DD. In general, studies of professional caregiver training (e.g. teachers, staff members) focused primarily on increasing positive interactions or praise, while parent training studies focused more broadly on parenting skills, of which positive interaction was one facet. Training methods differed, but there was some evidence to suggest that those studies that included some element of in situ practice and feedback yielded more robust effects. While caregiver acceptability and/or satisfaction surveys were administered in the majority of studies, fewer studies attempted to measure the satisfaction of individuals with DD. Future research topics are presented in light of these findings.

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11. Frank-Crawford MA, Hallgren MM, McKenzie A, Gregory MK, Wright ME, Wachtel LE. Mask Compliance Training for Individuals With Intellectual and Developmental Disabilities. Behavior analysis in practice. 2021; 14(4): 883-92.

Since the arrival of the novel coronavirus, recommendations for public masking have emerged to decrease infection rates. For a variety of reasons, tolerating wearing a mask is challenging for many individuals with intellectual and developmental disabilities (IDDs). Therefore, we evaluated behavioral strategies to promote compliance with wearing a mask with six hospitalized individuals diagnosed with IDDs. One participant was compliant with wearing the mask for extended durations during baseline while engaging in various activities (e.g., academics, leisure). For the other five individuals, engagement in activities alone was ineffective. Blocking mask removal, reinforcement for mask wearing, and noncontingent access to preferred activities or competing stimuli were then evaluated using a changing-criterion design in which the duration participants were required to tolerate the mask gradually increased. Increases in compliance with mask wearing were achieved with all participants; however, the terminal duration was attained for only four of the five individuals. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s40617-021-00583-7.

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12. Giannotti M, de Falco S. Attachment and Autism Spectrum Disorder (Without Intellectual Disability) During Middle Childhood: In Search of the Missing Piece. Frontiers in psychology. 2021; 12: 662024.

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13. Levesque-Wolfe MA, Rodriguez NM, Niemeier-Beck JJ. Consideration of Both Discriminated and Generalized Responding When Teaching Children with Autism Abduction Prevention Skills. Behavior analysis in practice. 2021; 14(2): 396-409.

We taught three children with autism how to respond to abduction lures presented by strangers. We then tested undesirable generalization of the safety response to matched instructions to leave by a familiar adult. Following training, all three participants engaged in the safety response across both strangers and familiar adults. Thus, we evaluated a set of procedures for establishing discriminated responding. Appropriate responding to instructions to leave by strangers versus familiar adults was achieved only after discrimination training. Discriminated responding occurred across a novel setting and maintained across 3 months; however, performance during stimulus generalization probes within community settings was variable. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s40617-020-00541-9.

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14. Makris G, Pervanidou P, Chouliaras G, Stachtea X, Valavani E, Bastaki D, Korkoliakou P, Bali P, Poulaki K, Chrousos GP, Papageorgiou C. Diverse patterns of vulnerability to visual illusions in children with neurodevelopmental disorders. Cognitive processing. 2021; 22(4): 659-73.

Research on how children with neurodevelopmental disorders perceive, process, and interpret visual illusions (VIs) has been extensively focused on children with autism spectrum disorder providing controversial findings. In this study, we investigated the patterns of vulnerability to a wide set of VIs comprising 23 standard text book VIs and their variations in a clinical sample of children with neurodevelopmental disorders compared to typically developing children (TD). A total of 176 children, aged between 4.6 and 13.8 years old, were distributed into four groups: high-functioning autism (HFA; N = 23), attention-deficit/hyperactivity disorder (ADHD; N = 42), specific learning disorder (SLD; N = 70), and TD (N = 41). Regression models, adjusted for sex, age, and non-verbal IQ, showed that HFA was associated with greater responses accuracy than TD children to the full battery of VIs, to the cognitive illusions, to the distortions, and to both geometrical illusions of size/shape (cognitive distortions) and lightness contrast effects (physical distortions). The susceptibility of ADHD children was found attenuated for illusory contours and greater for paradoxical illusions in comparison with TD children. No significant differences were shown between the SLD group and the TD children. Our findings, which were adjusted for the same duration of visual working memory across groups, showed that there is a potential specific tendency of HFA children to failure of processing visual information in context. Contrarily, children with ADHD showed in general normal global processing such as children diagnosed with SLD.

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15. Martinez-Torres K, Boorom O, Nogueira Peredo T, Camarata S, Lense MD. Using the Ecological Validity Model to adapt parent-involved interventions for children with Autism Spectrum Disorder in the Latinx community: A conceptual review. Research in developmental disabilities. 2021; 116: 104012.

BACKGROUND: Parent involvement in interventions for children with Autism Spectrum Disorder (ASD) provides parents with education about ASD diagnosis and treatment, improves parent-child interactions, and offers access to cost-effective resources. The Latinx population represents the fastest growing minority population in the United States and a growing percentage of children seeking ASD intervention services. AIMS: Identify factors that impact Latinx parent involvement in interventions for children with ASD as an example of cultural considerations for diverse families and communities. METHODS AND PROCEDURES: In this conceptual overview, we synthesize literature on cultural considerations for intervention design/adaptation for Latinx families and parent involvement in interventions for children with ASD through the lens of the Ecological Validity Model. OUTCOMES AND RESULTS: Frameworks such as the Ecological Validity Model can be used when creating or adapting interventions for specific cultural groups. Parent-involved interventions for children with ASD in the Latinx community should consider language of intervention delivery, family make-up, community support, disability knowledge of the family, the therapeutic alliance, and methods of implementation. CONCLUSIONS AND IMPLICATIONS: Incorporating cultural components into parent-involved interventions will best support intervention implementation and dissemination in diverse communities. Research is needed into the process and outcomes of intervention programs in order to increase understanding of how specific cultural dimensions impact participation in and efficacy of parent-involved interventions for Latinx families of children with ASD.

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16. Melendez JL, Tan IMC, Lau JC, Leung J. Practical Resources for Talking to Children with Autism about Systemic Racism. Behavior analysis in practice. 2021; 14(2): 451-61.

As part of the child-rearing process, situations that invite difficult conversations will inevitably arise. Oftentimes, there are no guidelines or structure for how to discuss topics such as sex education, systemic racism, bullying, grieving, and gun violence. Accordingly, adults may feel at a loss for how to address difficult topics and may even avoid difficult conversations completely. When adults choose to have these conversations, they may imitate the conversations their caregivers had with them, and therefore further the cycle of systemic racism, often unknowingly and unintentionally. Racial injustice has been a core part of the American experience since the founding of the republic; hence, conversations about systemic racism are long overdue. The need has significantly increased, given the current socio-political climate. Social justice may be a sensitive topic for some, but it is a needed conversation for all, including children with Autism Spectrum Disorder (ASD). Currently available curricula and teaching manuals in the Applied Behavior Analysis (ABA) literature include little or no resources for caregivers on how to address systemic racism with their children on the spectrum. Children with ASD should be educated about how they, and their families, can combat systemic racism in their everyday lives. The present paper addresses this gap in available treatment resources by offering practical suggestions and guidelines for how adults can address the topic of systemic racism with children on the autism spectrum to educate them and prepare them to contribute to a more equitable and just future.

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17. Napoli E, Flores A, Mansuri Y, Hagerman RJ, Giulivi C. Sulforaphane improves mitochondrial metabolism in fibroblasts from patients with fragile X-associated tremor and ataxia syndrome. Neurobiology of disease. 2021; 157: 105427.

CGG expansions between 55 and 200 in the 5′-untranslated region of the fragile-X mental retardation gene (FMR1) increase the risk of developing the late-onset debilitating neuromuscular disease Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). While the science behind this mutation, as a paradigm for RNA-mediated nucleotide triplet repeat expansion diseases, has progressed rapidly, no treatment has proven effective at delaying the onset or decreasing morbidity, especially at later stages of the disease. Here, we demonstrated the beneficial effect of the phytochemical sulforaphane (SFN), exerted through NRF2-dependent and independent manner, on pathways relevant to brain function, bioenergetics, unfolded protein response, proteosome, antioxidant defenses, and iron metabolism in fibroblasts from FXTAS-affected subjects at all disease stages. This study paves the way for future clinical studies with SFN in the treatment of FXTAS, substantiated by the established use of this agent in clinical trials of diseases with NRF2 dysregulation and in which age is the leading risk factor.

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18. Noda S, Murakami A, Kimura S, Minamiyama M, Katsuno M, Kuru S. Duchenne Muscular Dystrophy Successfully Treated with Aripiprazole in a Patient with Autism Spectrum Disorder Symptoms Including Irritability. Internal medicine (Tokyo, Japan). 2021; 60(24): 3983-6.

Duchenne muscular dystrophy (DMD) is associated with neuropsychiatric disorders, and patients often present with autism spectrum disorder (ASD). We herein report a case of DMD accompanied by ASD that was successfully treated with aripiprazole, an atypical antipsychotic that has been used for treating irritability in child and early adolescent patients with ASD. The patient was diagnosed as having DMD at 3 years of age. Although he developed severe psychotic symptoms including irritability, insomnia, hallucinations, and delusions at 17 years of age, all the symptoms were successfully treated with aripiprazole without any detectable side effects.

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19. Ramanan S, Sundaram S, Gopalakrishnan A, Anija DV, Sandhya P, Jose DS, Baruah SD, Menon S, Dharan BS. Intermediate-term neurodevelopmental outcomes and quality of life after arterial switch operation beyond early neonatal period. European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery. 2021; 60(6): 1428-36.

OBJECTIVES: The study objective was to evaluate the cardiac, neurodevelopmental, psycho-social and health-related quality of life (HRQOL) outcomes of children who underwent an arterial switch operation (ASO). METHODS: Children who underwent ASO were evaluated on follow-up at 3-5 years with cardiovascular, neurodevelopmental and HRQOL assessment using validated tools. Children with developmental delay, attention-deficit hyperactivity disorder, autism spectrum disorder, neuromotor and speech and language impairment were considered to have neurodevelopmental disorder (NDD). The impact of socioeconomic status (Kuppuswamy classification), perioperative cardiac, nutritional and psycho-social factors on outcomes was analysed. RESULTS: There were 61 (89.7%) survivors at a mean follow-up of 50.9 ± 7.6 months. The median age at surgery was 41 days (22-74.5). One-third of patients had growth restriction. Two children had residual cardiovascular lesions requiring intervention. The mean HRQOL score was >90 in all scales of the Paediatric Quality of Life Inventory™ 3.0 Cardiac Module. Neurological abnormalities were seen in 19 patients (31.1%) of whom 17 (27.9%) patients had NDD and 12 had developmental delay. Speech and language impairment, attention-deficit hyperactivity disorder, and neuromotor impairment were found in 16.4%, 3.3% and 6.7% patients, respectively. On multivariate analysis, increasing time to lactate normalization and low socioeconomic status were associated with developmental delay after ASO. CONCLUSIONS: While intermediate-term cardiac outcomes and HRQOL after ASO were fairly satisfactory, NDD was identified in one-fourth of these children. Increasing time to lactate normalization after ASO and low socioeconomic status were associated with suboptimal intermediate neurodevelopment outcomes after ASO.

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20. Reiter MA, Jahedi A, Jac Fredo AR, Fishman I, Bailey B, Müller RA. Performance of machine learning classification models of autism using resting-state fMRI is contingent on sample heterogeneity. Neural computing & applications. 2021; 33(8): 3299-310.

Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions. In fMRI studies, including most machine learning studies seeking to distinguish ASD from typical developing (TD) samples, cohorts differing in gender and symptom severity composition are often treated statistically as one « ASD group ». Using resting-state functional connectivity (FC) data, we implemented random forest to build diagnostic classifiers in 4 ASD samples including a total of 656 participants (N(ASD) = 306, N(TD) = 350, ages 6-18). Groups were manipulated to titrate heterogeneity of gender and symptom severity and partially overlapped. Each sample differed on inclusionary criteria: (1) all genders, unrestricted severity range; (2) only male participants, unrestricted severity; (3) all genders, higher severity only; (4) only male participants, higher severity. Each set consisted of 200 participants per group (ASD, TD; matched on age and head motion), 160 for training and 40 for validation. FMRI time series from 237 regions of interest (ROIs) were Pearson correlated in a 237×237 FC matrix and classifiers were built using random forest in training samples. Classification accuracies in validation samples were 62.5%, 65%, 70% and 73.75%, respectively for samples 1-4. Connectivity within cingulo-opercular task control (COTC) network, and between COTC ROIs and default mode and dorsal attention network contributed overall most informative features, but features differed across sets. Findings suggest that diagnostic classifiers vary depending on ASD sample composition. Specifically, greater homogeneity of samples regarding gender and symptom severity enhances classifier performance. However, given the true heterogeneity of ASDs, performance metrics alone may not adequately reflect classifier utility.

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21. Remington A, Heasman B, Romualdez AM, Pellicano E. Experiences of autistic and non-autistic individuals participating in a corporate internship scheme. Autism : the international journal of research and practice. 2022; 26(1): 201-16.

Autistic people can find it difficult to find and keep a job, and fewer autistic people are employed compared with people from other disability groups. There is not enough research in this area, especially research that directly compares the experiences of autistic and non-autistic colleagues starting in an organisation at the same time. Our study looked at the experiences of autistic and non-autistic people taking part in an internship at Deutsche Bank, UK. We spoke to the interns before the internship began, and again once it had finished. We also asked the interns’ hiring managers about their experiences of the internship. We used interviews and online questionnaires to find out people’s views. Before the programme began, managers of autistic interns were more worried about the internship than managers of the non-autistic interns. They were worried about providing the right level of support, communicating successfully and treating all their employees fairly. At the end of the internship, everyone felt that the internship was a success. Managers of autistic interns explained how the experience had made them better managers. Both groups of interns and said that they benefitted from clear communication and would have likes more support. Managers of autistic interns spoke about dividing tasks up into smaller chunks and being flexible in their communication were helpful when working with the autistic interns. More work is needed to make sure that autistic interns are integrated alongside non-autistic peers. One way to make this happen might be to create guides for managers.

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22. Santos L, Geminiani A, Schydlo P, Olivieri I, Santos-Victor J, Pedrocchi A. Design of a Robotic Coach for Motor, Social and Cognitive Skills Training Toward Applications With ASD Children. IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society. 2021; 29: 1223-32.

Socially assistive robots may help the treatment of autism spectrum disorder(ASD), through games using dyadic interactions to train social skills. Existing systems are mainly based on simplified protocols which qualitatively evaluate subject performance. We propose a robotic coaching platform for training social, motor and cognitive capabilities, with two main contributions: (i) using triadic interactions(adult, robot and child), with robotic mirroring, and (ii) providing quantitative performance indicators. The key system features were accurately designed, including type of protocols, feedback systems and evaluation metrics, contemplating the requirements for applications with ASD children. We implemented two protocols, Robot-Master and Adult-Master, where children performed different gestures guided by the robot or the adult respectively, eventually receiving feedback about movement execution. In both, the robot mirrors the subject during the movement. To assess system functionalities, with a homogeneous group of subjects, tests were carried out with 28 healthy subjects; one preliminary acquisition was done with an ASD child. Data analysis was customized to design protocol-specific parameters for movement characterization. Our tests show that robotic mirroring execution depends on the complexity and standardization of movements, as well as on the robot technical features. The feedback system evaluated movement phases and successfully estimated the completion of the exercises. Future work includes improving platform flexibility and adaptability, and clinical trials with ASD children to test the impact of the robotic coach on reducing symptoms. We trust that the proposed quantitative performance indicators extend the current state-of-the-art towards clinical usage of robotic-based coaching systems.

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23. Singh NN, Lancioni GE, Medvedev ON, Hwang YS, Myers RE, Townshend K. Using mindfulness to improve quality of life in caregivers of individuals with intellectual disabilities and autism spectrum disorder. International journal of developmental disabilities. 2020; 66(5): 370-80.

OBJECTIVES: Caring for individuals with intellectual disabilities (ID) or autism spectrum disorder (ASD) can be gratifying as well as stressful. Professional staff employed as caregivers often report compromised mental and physical wellbeing due to the stressful nature of working with clients who exhibit aggressive and destructive behaviors. Prolonged work-related stress results in diminished quality of life for the caregivers. The aim of the present study was to evaluate the comparative effects of three programs-mindfulness program, psychoeducational program, and inservice training-as-usual-on the quality of life of professional caregivers who provide services to adolescent and adult clients with ID and ASD. METHODS: Professional caregivers (N = 216) were randomized into three experimental conditions, and trained in mindfulness, psychoeducation, and inservice training-as-usual. The effects of the training on the caregivers’ quality of life were assessed in terms of perceived stress, compassion satisfaction, compassion fatigue (i.e. burnout, secondary traumatic stress), and symptoms of depression at the end of 32 weeks of implementation. RESULTS: Perceived stress, burnout, and secondary traumatic stress decreased significantly in the mindfulness condition, followed by psychoeducation, but not in the inservice training-as-usual condition. Compassion satisfaction increased significantly in the mindfulness condition, followed by psychoeducation, but not in the inservice training-as-usual condition. Symptoms of depression, which were rated in the borderline clinical range prior to intervention, decreased significantly to within normal levels in the mindfulness condition, decreased minimally in the psychoeducation condition, and showed no change in the training-as usual condition. CONCLUSIONS: A 3-day training in mindfulness meditations and associated contemplative practices provides a better basis for enhancing caregivers’ quality of life than psychoeducation or inservice training-as-usual.

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24. Tereshko L, Ross RK, Frazee L. The Effects of a Procedure to Decrease Motor Stereotypy on Social Interactions in a Child With Autism Spectrum Disorder. Behavior analysis in practice. 2021; 14(2): 367-77.

Repetitive and stereotypic motor movements and vocal behavior are among the diagnostic characteristics of autism spectrum disorder (American Psychiatric Association, 2013, Diagnostic and Statistical Manual of Mental Disorders [5th ed.]. Washington, DC: Author). Motor stereotypy can interfere with the acquisition and demonstration of many adaptive skills and may socially stigmatize individuals, limiting the development and maintenance of peer relationships. The current study evaluated the effects of a differential reinforcement procedure used to establish discriminative stimulus control over the rate of motor stereotypy. In the second experimental phase, the child was taught a multistep self-management program using the differential reinforcement procedure. The data indicate that the procedure was effective in decreasing the rate of motor stereotypy across all evaluated settings for an increased duration. Although motor stereotypy was not completely eliminated by the procedure, a large reduction in rate was observed, as well as a large increase in the initiation of and response to social interactions. The findings are discussed in terms of social validity and the establishment and transfer of stimulus control.

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25. Traverso A, Ancora C, Zanato S, Raffagnato A, Gatta M. Diagnostic and Therapeutic Challenges of Catatonia in an Adolescent With High Functioning Autism Spectrum Disorder: A Case Report. Frontiers in psychiatry. 2021; 12: 644727.

Catatonia is a psychomotor syndrome with specific clusters of speech, behavioral and motor features. Although potentially life-threatening, especially in its malignant form accompanied with autonomic dysregulation and medical complications, it is a treatable condition, when promptly identified. For a long time catatonia was considered a marker of schizophrenia, thus limiting the possibility of diagnosis and treatment. Due to growing awareness and studies on the subject, it is now known that catatonia can occur in the context of a number of diseases, including psychotic, affective and neurodevelopmental disorders. In recent years, there’s been a renewed interest in the recognition and definition of catatonia in neurodevelopmental disorders, such as Autism Spectrum Disorder (ASD), where the differential diagnosis poses great challenges, given the considerable overlapping of signs and symptoms between the conditions. We present the case of a 15 year old boy with High Functioning ASD with a sudden onset of severe catatonic symptoms and the co-existence of psychotic symptoms, whose complex clinical course raises many questions on the differentiation and relation of said disorders.

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26. Walsh MJM, Wallace GL, Gallegos SM, Braden BB. Brain-based sex differences in autism spectrum disorder across the lifespan: A systematic review of structural MRI, fMRI, and DTI findings. NeuroImage Clinical. 2021; 31: 102719.

Females with autism spectrum disorder (ASD) have been long overlooked in neuroscience research, but emerging evidence suggests they show distinct phenotypic trajectories and age-related brain differences. Sex-related biological factors (e.g., hormones, genes) may play a role in ASD etiology and have been shown to influence neurodevelopmental trajectories. Thus, a lifespan approach is warranted to understand brain-based sex differences in ASD. This systematic review on MRI-based sex differences in ASD was conducted to elucidate variations across the lifespan and inform biomarker discovery of ASD in females We identified articles through two database searches. Fifty studies met criteria and underwent integrative review. We found that regions expressing replicable sex-by-diagnosis differences across studies overlapped with regions showing sex differences in neurotypical cohorts. Furthermore, studies investigating age-related brain differences across a broad age-span suggest distinct neurodevelopmental patterns in females with ASD. Qualitative comparison across youth and adult studies also supported this hypothesis. However, many studies collapsed across age, which may mask differences. Furthermore, accumulating evidence supports the female protective effect in ASD, although only one study examined brain circuits implicated in « protection. » When synthesized with the broader literature, brain-based sex differences in ASD may come from various sources, including genetic and endocrine processes involved in brain « masculinization » and « feminization » across early development, puberty, and other lifespan windows of hormonal transition. Furthermore, sex-related biology may interact with peripheral processes, in particular the stress axis and brain arousal system, to produce distinct neurodevelopmental patterns in males and females with ASD. Future research on neuroimaging-based sex differences in ASD would benefit from a lifespan approach in well-controlled and multivariate studies. Possible relationships between behavior, sex hormones, and brain development in ASD remain largely unexamined.

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27. Xu XJ, Cai XE, Meng FC, Song TJ, Wang XX, Wei YZ, Zhai FJ, Long B, Wang J, You X, Zhang R. Comparison of the Metabolic Profiles in the Plasma and Urine Samples Between Autistic and Typically Developing Boys: A Preliminary Study. Frontiers in psychiatry. 2021; 12: 657105.

Background: Autism spectrum disorder (ASD) is defined as a pervasive developmental disorder which is caused by genetic and environmental risk factors. Besides the core behavioral symptoms, accumulated results indicate children with ASD also share some metabolic abnormalities. Objectives: To analyze the comprehensive metabolic profiles in both of the first-morning urine and plasma samples collected from the same cohort of autistic boys. Methods: In this study, 30 autistic boys and 30 tightly matched healthy control (HC) boys (age range: 2.4~6.7 years) were recruited. First-morning urine and plasma samples were collected and the liquid chromatography-mass spectrometry (LC-MS) was applied to obtain the untargeted metabolic profiles. The acquired data were processed by multivariate analysis and the screened metabolites were grouped by metabolic pathway. Results: Different discriminating metabolites were found in plasma and urine samples. Notably, taurine and catechol levels were decreased in urine but increased in plasma in the same cohort of ASD children. Enriched pathway analysis revealed that perturbations in taurine and hypotaurine metabolism, phenylalanine metabolism, and arginine and proline metabolism could be found in both of the plasma and urine samples. Conclusion: These preliminary results suggest that a series of common metabolic perturbations exist in children with ASD, and confirmed the importance to have a comprehensive analysis of the metabolites in different biological samples to reveal the full picture of the complex metabolic patterns associated with ASD. Further targeted analyses are needed to validate these results in a larger cohort.

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28. Yang M, Cao M, Chen Y, Chen Y, Fan G, Li C, Wang J, Liu T. Large-Scale Brain Functional Network Integration for Discrimination of Autism Using a 3-D Deep Learning Model. Frontiers in human neuroscience. 2021; 15: 687288.

GOAL: Brain functional networks (BFNs) constructed using resting-state functional magnetic resonance imaging (fMRI) have proven to be an effective way to understand aberrant functional connectivity in autism spectrum disorder (ASD) patients. It is still challenging to utilize these features as potential biomarkers for discrimination of ASD. The purpose of this work is to classify ASD and normal controls (NCs) using BFNs derived from rs-fMRI. METHODS: A deep learning framework was proposed that integrated convolutional neural network (CNN) and channel-wise attention mechanism to model both intra- and inter-BFN associations simultaneously for ASD diagnosis. We investigate the effects of each BFN on performance and performed inter-network connectivity analysis between each pair of BFNs. We compared the performance of our CNN model with some state-of-the-art algorithms using functional connectivity features. RESULTS: We collected 79 ASD patients and 105 NCs from the ABIDE-I dataset. The mean accuracy of our classification algorithm was 77.74% for classification of ASD versus NCs. CONCLUSION: The proposed model is able to integrate information from multiple BFNs to improve detection accuracy of ASD. SIGNIFICANCE: These findings suggest that large-scale BFNs is promising to serve as reliable biomarkers for diagnosis of ASD.

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