Pubmed du 15/12/22
1. Abrams G, Jayashankar A, Kilroy E, Butera C, Harrison L, Ring P, Houssain A, Nalbach A, Cermak SA, Aziz-Zadeh L. Differences in Praxis Errors in Autism Spectrum Disorder Compared to Developmental Coordination Disorder. Journal of autism and developmental disorders. 2022.
This study aimed to better understand how autism spectrum disorder (ASD) and developmental coordination disorder (DCD) differ in types of praxis errors made on the Florida Apraxia Battery Modified (FAB-M) and the potential relationships between praxis errors and social deficits in ASD. The ASD group made significantly more timing sequencing errors in imitation of meaningful gestures, as well as more body-part-for-tool errors during gesture-to-command compared to the other two groups. In the ASD group, increased temporal errors in meaningful imitation were significantly correlated with poorer affect recognition and less repetitive behaviors. Thus, in ASD, aspects of imitation ability are related to socioemotional skills and repetitive behaviors.
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2. Adebayo OL, Dewenter I, Rinne L, Golubiani G, Solomonia R, Müller M. Retraction notice to « Intensified mitochondrial hydrogen peroxide release occurs in all brain regions, affects male as well as female Rett mice, and constitutes a life-long burden » [Arch. Biochem. Biophys. 696 (15 December 2020) 10866]. Archives of biochemistry and biophysics. 2022; 732: 109467.
This article has been retracted: please see Elsevier Policy on Article Withdrawal (https://www.elsevier.com/about/our-business/policies/article-withdrawal). This article has been retracted at the request of the Editor-in-Chief and Authors. Professor Michael Müller approached the journal explaining that he had encountered an issue in the way the spectrofluorometric data analyses was performed. The normalization of the fluorescence curves to their respective starting points (as explained in Figure 1A) overestimated the changes in Mecp2-mutant mice, which usually started at lower levels. This overestimation applies to Figure 3 A-D as well as Table 2 and Table 3 and altered the outcomes of the study. Both the EiC and the authors agreed that a corrigendum would not be appropriate due to the change in conclusion and that the paper should therefore be retracted. The authors apologise for any confusion this paper may have resulted in.
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3. Almatrafi M, Al-Sabban Z, Balkhy S, Abumansour IS. Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism. Journal of autism and developmental disorders. 2022.
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4. Amen NE, Eqani S, Bilal K, Ali N, Rajeh N, Adelman D, Shen H, Lohmann R. Molecularly tracing of children exposure pathways to environmental organic pollutants and the Autism Spectrum Disorder Risk. Environmental pollution (Barking, Essex : 1987). 2022; 315: 120381.
Organic pollutants (OPs) including organochlorine pesticides (OCPs), polychlorinated biphenyls (PCBs), polybrominated diphenyl ethers (PBDEs) and polycyclic aromatic hydrocarbons (PAHs) have showed neuro-damaging effects, but studies concerning the autism spectrum disorder (ASD) risk are limited. A case-control study with ASD (n = 125) and healthy control (n = 125) children was conducted on the different land use settings across Punjab, Pakistan. Serum concentrations of 26 OCPs, 29 PCB congeners, 11 PBDEs and 32 PAHs were measured. Serum PCB77 (AOR = 2.00; 95% CI: 1.43, 2.18), PCB118 (AOR = 1.49; 95% CI: 1.00, 2.00), PCB128 (AOR = 1.65; 95% CI: 1.01, 1.91), PCB153 (AOR = 1.80; 95% CI: 1.55, 1.93) were significantly higher, but PCB187 (AOR = 0.37; 95% CI: 0.24, 0.49) was significantly lower in the ASD cases when compared to the controls. Serum BDE99 (AOR = 0.48; 95% CI: 0.26, 0.89) was significantly higher in the healthy controls than in the ASD cases. Among the analyzed OCPs, p,p’-DDE (AOR = 1.50; 95% CI: 1.00, 1.85) was significantly elevated in the ASD cases with comparison in the controls. For PAHs, serum dibenzothiophene (AOR = 7.30; 95% CI: 1.49, 35.85) was significantly higher in the ASD, while perylene (AOR = 0.25; 95% CI: 0.06, 1.10) and fluorene (AOR = 0.21; 95% CI: 0.06, 0.72) were significantly higher in the controls. In addition, many of the serum pollutants were significantly associated with GSTT1, GSTM1 (null/present polymorphism) and presented the genotypic variation to respond xenobiotics in children. The children living in proximity to urban and industrial areas had a greater exposure to most of the studied pollutants when compared to the rural children, however children residing in rural areas showed higher exposure to OCPs. This comprehensive study documents an association between environmental exposure risk of several organic pollutants (OPs) from some contaminated environmental settings with ASD risk in children from Pakistan.
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5. Boxhoorn S, Schütz M, Mühlherr AM, Mössinger H, Luckhardt C, Freitag CM. The effect of perceptual expectation on processing gain, attention and the perceptual decision bias in children and adolescents with Autism Spectrum Disorder (ASD). Scientific reports. 2022; 12(1): 21688.
Perceptual expectations influence perception, attention and the perceptual decision bias during visuospatial orienting, which is impaired in individuals with Autism Spectrum Disorder (ASD). In this study, we investigated whether during visuospatial orienting, perceptual expectations in ASD differentially influence perception, attention and the perceptual decision bias relative to neurotypical controls (NT). Twenty-three children and adolescents with ASD and 23 NT completed a visuospatial orienting task, which compared the effect of a valid relative to an invalid perceptual expectation on target detection (cue validity effect). Group differences were calculated regarding the cue validity effect on neural correlates of processing gain (N1a amplitude) and attention (N1pc amplitude), the perceptual decision bias and mean reaction time (RT). In ASD relative to NT, findings showed a reduced processing gain for validly relative to invalidly cued targets and increased attentional response following invalidly relative to validly cued targets. Increased attention correlated with faster performance across groups. Increased processing correlated with a higher perceptual decision bias and faster mean RT in NT, but not in ASD. Results suggest that during visuospatial orienting, perceptual expectations in ASD may drive changes in sensory processing and stimulus-driven attention, which may differentially guide behavioural responses.
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6. Burnham Riosa P, Ensor R, Jichici B, Davy B. How my life is unique: Sibling perspectives of autism. Autism : the international journal of research and practice. 2022: 13623613221142385.
The impact of autism on the family is an important area of study. Much of the existing literature has focused on the parent perspective, with less emphasis on the experiences of other family members, especially non-autistic siblings. This study aimed to explore the lived experiences of a sample of nine 8- to 17-year-old non-autistic siblings of children and youth on the autism spectrum. We interviewed non-autistic siblings and analysed the written transcripts. Our results revealed the following themes: (1) Role disparities, different expectations; (2) Connection and disconnection; and (3) Our family is (extra)ordinary. Our study findings highlight siblings’ unique and collective perspectives regarding their brother or sister on the spectrum within the broader family unit. We discuss the implications of these results on siblings of autistic children and youth.
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7. Chawla P, Rana SB, Kaur H, Singh K. Computer-aided diagnosis of autism spectrum disorder from EEG signals using deep learning with FAWT and multiscale permutation entropy features. Proceedings of the Institution of Mechanical Engineers Part H, Journal of engineering in medicine. 2022: 9544119221141751.
Autism spectrum disorder (ASD), a neurodevelopment disorder, is characterized by significant difficulties in social interaction and emerges as a major threat to children. Its computer-aided diagnosis used by neurologists improves the detection process and has a favorable impact on patients’ health. Currently, a biomarker termed electroencephalography (EEG) is considered as vital tool to detect abnormal electrical activity in the brain. In this context, the present paper brings forth a novel approach for automated diagnosis of ASD from multichannel EEG signals using flexible analytic wavelet transform (FAWT). Firstly, this approach processes the acquired EEG signals with filtering and segmentation into short-duration EEG segments in the range of 5-20 s. These segmented EEG signals are decomposed into five levels using FAWT technique to obtain various sub-bands. Further, multiscale permutation entropy values are extracted from decomposed sub-bands which are used as feature vectors in the present work. Afterwards, these feature vectors are evaluated by traditional machine learning algorithms viz., k-nearest neighbor, logistic regression, support vector machine, and random forest, as well as convolutional neural network (CNN) as deep learning algorithm with different segment durations. The analysis of results reveals that CNN provides maximum accuracy, sensitivity, specificity, and area under the curve of 99.19%, 99.34%, 99.21%, and 0.9997, respectively, for 10 s duration EEG segment to identify ASD patients among healthy individuals. Thus, the proposed CNN architecture would be extremely helpful during diagnostic process of autism disease for neurologists.
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8. Dai YG, Thomas RP, Brennan L, Luu ML, Hughes-Lika J, Reilly M, Moreno P, Obe B, Ahmed KB, Berry LN, Goin-Kochel RP, Helt MS, Barton ML, Dumont-Mathieu T, Robins DL, Fein DA. An initial trial of OPT-In-Early: An online training program for caregivers of autistic children. Autism : the international journal of research and practice. 2022: 13623613221142408.
Early intervention can help children learn language and improve social communication. However, many barriers, including the expense of services and an insufficient number of providers, prohibit families from accessing services when their children are young. We developed a comprehensive online program for caregivers of autistic children. The program, Online Parent Training in Early Behavioral Intervention (OPT-In-Early), uses text and video demonstrations to teach caregivers effective methods for improving their children’s language, social, and adaptive skills (e.g. using utensils, toilet training), and reducing their children’s disruptive behavior. Sixty-three parents from three states participated in the study. Half of the parents received access to the OPT-In-Early program. After 4 months, parents who had access to the OPT-In-Early program learned more effective intervention strategies, and started using these strategies during interactions with their children, than parents who did not receive access to the program. Parent participation in OPT-In-Early did not significantly influence children’s social communication compared to children whose parents did not have access to OPT-In-Early. A longer duration of parents using learned intervention skills with their children may be needed for children’s social communication skills to improve.
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9. Featherstone C, Sharpe RA, Axford N, Asthana S, Ball S, Husk K. Barriers to healthcare and their relationship to well-being and social support for autistic adults during COVID-19. Primary health care research & development. 2022; 23: e79.
AIM: The present study aimed to investigate barriers to healthcare and their relationships to social and emotional well-being and intersectional inequalities for autistic adults during COVID-19 restrictions in the UK. BACKGROUND: Autistic adults experience severe health inequalities and report more barriers to accessing health services compared to other both disabled and non-disabled populations. The COVID-19 pandemic has impacted many areas of society that may have increased vulnerability of autistic people to social and health inequalities, including delivery of healthcare from in-person to remote methods. METHOD: One hundred twenty-eight autistic adults who lived in the UK took part in an online survey. Measures included the Barriers to Healthcare Checklist (Short Form) and PROMIS outcome measure bank to assess emotional well-being and social support. Participants rated their agreement with items, retrospectively considering three different points of the trajectory of COVID-19 restrictions: before COVID-19, during the first lockdown in spring 2020, and in the month prior to taking the survey during autumn 2020. They completed a follow-up survey six months later to continue to assess change as restrictions in the UK were eased. FINDINGS: The average number of barriers to healthcare showed no significant change between all four time points. However, the nature of barriers to healthcare changed at the point of lockdown and persisted beyond the easing of COVID-19 restrictions. Barriers to healthcare were associated with some social and emotional well-being variables and demographic groups including gender, education and presence of additional disabilities. The findings may help to identify areas to target to improve access to both remote and in-person health systems for autistic people as modes of delivery continue to change over time.
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10. Forbes G, Kent R, Charman T, Baird G, Pickles A, Simonoff E. How do autistic people fare in adult life and can we predict it from childhood?. Autism research : official journal of the International Society for Autism Research. 2022.
This study describes social, mental health, and quality of life outcomes in early adulthood, and examines childhood predictors in the Special Needs and Autism Project (SNAP), a longitudinal population-based cohort. Young autistic adults face variable but often substantial challenges across many areas of life. Prediction of outcomes is important to set expectations and could lead to the development of targeted early intervention. Autistic children were enrolled at age 12 and parents reported outcomes 11 years later when their children were age 23 (n = 121). Thirty six percent of autistic adults were in competitive employment or education and 54% had frequent contact with friends. Only 5% of autistic adults were living independently, and 37% required overnight care. Moderate or severe anxiety and depression symptoms were found for 11% and 12% of young adults, respectively. Subjective quality of life was similar to UK averages except for social relationships. Using childhood IQ, autism traits and adaptive functioning meaningful predictions can be made of living situation, employment and education and physical health. Prediction was poor for friendships, mental health outcomes and other aspects of quality of life. Our results suggest that although young autistic adults face challenges across normative, social outcomes, they may be faring better in regard to mental health or quality of life. Childhood IQ, autism traits and adaptive functioning are most useful for predicting outcomes. After accounting for these factors, childhood measurements of behavioral and emotional problems and language offered little improvement in prediction of adult outcomes.
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11. Fu C, Ngo J, Zhang S, Lu L, Miron A, Schafer S, Gage FH, Jin F, Schumacher FR, Wynshaw-Boris A. Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly. Human molecular genetics. 2022.
Autism spectrum disorders (ASD) display both phenotypic and genetic heterogeneity, impeding the understanding of ASD and development of effective means of diagnosis and potential treatments. Genes affected by genomic variations for ASD converge in dozens of gene ontologies (GOs), but the relationship between the variations at the GO level have not been well elucidated. In the current study, multiple types of genomic variations were mapped to GOs and correlations among GOs were measured in ASD and control samples. Several ASD-unique GO correlations were found, suggesting the importance of co-occurrence of genomic variations in genes from different functional categories in ASD etiology. Combined with experimental data, several variations related to WNT signaling, neuron development, synapse morphology/function and organ morphogenesis were found to be important for ASD with macrocephaly, and novel co-occurrence patterns of them in ASD patients were found. Further, we applied this gene ontology correlation analysis method to find genomic variations that contribute to ASD etiology in combination with changes in gene expression and transcription factor binding, providing novel insights into ASD with macrocephaly and a new methodology for the analysis of genomic variation.
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12. Groenendijk ER, Van Heijst B, Geurts HM. Short report: A co-designed psychoeducation for older autistic adults-a multiple case study. Autism : the international journal of research and practice. 2022: 13623613221138691.
After receiving an autism diagnosis by a clinician, psychoeducation (i.e. information regarding autism) is often offered. However, older autistic adults (55+ years) may need specific information about the challenges they face in daily life as they are in a specific life phase. A psychoeducation program for this specific age group does not exist yet. We first developed such a program together with autistic adults and clinicians working with autistic people, after which we tested the program with nine autistic adults (56-73 years) and someone close to them (so-called proxy). Before testing the program, we determined together with autistic older adults what they thought should be the outcome of this intervention in order to state whether it was, indeed, a useful intervention. Earlier studies found that autistic people often think differently about their own autistic characteristics than their proxy. A reduction of this difference could increase mutual understanding. Therefore, the main hypothesis was that the program would decrease this difference with respect to autistic characteristics and cognitive challenges (e.g. memory problems). Another hypothesis was that the program would have a positive impact on a series of other factors, such as self-esteem. The results showed that the program did neither decrease the difference in insight nor the other tested factors. Nonetheless, we believe it is important to keep on working on a psychoeducation program for older autistic adults, because participants informed us the program had still helped them in certain ways and they gave helpful feedback for improvements of the program.
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13. Itoi C, Ujiie Y, Matsushima K, Takahashi K, Ide M. Validation of the Japanese version of the Interoception Sensory Questionnaire for individuals with autism spectrum disorder. Scientific reports. 2022; 12(1): 21722.
The Interoception Sensory Questionnaire (ISQ) is a self-report instrument used to assess the characteristics of interoceptive processing in individuals with autism spectrum disorder (ASD). Previous studies have shown that scores of the ISQ are more appropriate than other subjective measures for evaluating difficulties in interoceptive processing in individuals with ASD. Yet, no prior research has demonstrated the validation of the ISQ in Japanese samples. This study attempted to validate the Japanese version of the ISQ (ISQ-J) by examining its psychometric properties. We confirmed the score distribution, internal consistency, and factor structure in Japanese samples. We also examined the relationships with other interoceptive questionnaires. In addition, we compared the scores of the ISQ-J between adolescents and adults with ASD participants and control participants. Results of confirmatory factor analyses showed that the reliability of the ISQ-J in adults with ASD reached an acceptable level of a one-factor structure with excellent internal consistency (α = 0.963). The result of the ISQ-J showed a significant positive correlation with the measure of awareness of interoceptive sensitivity for localized bodily states; on the other hand, a significant negative correlation was found with those integrated bodily states. In addition, the ISQ-J scores were significantly higher in the ASD group than in the control group. The current findings depend on self-report data (including a diagnosis of ASD) to measure validity constructs. Additionally, since the ISQ-J was surveyed in adults with ASD, it is unclear whether similar the results would be obtained if the ISQ-J were conducted with children. These results indicate the validity and reliability of the ISQ-J and provide a tool for assessing confusion of interoceptive information in Japanese adults with ASD.
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14. Kim SY, Cheon JE, Gillespie-Lynch K, Grandits J, Kim YH. Explicit stigma and implicit biases toward autism in South Korea versus the United States. Autism : the international journal of research and practice. 2022: 13623613221140695.
How people report their feelings about autism may be different from how they actually think about autism because some people may not want to reveal their true feelings. People who value the group’s goal tend to present themselves as more socially acceptable than people who value one person’s interests. We studied how people in South Korea and the United States report their feelings about autism and think about autism. Koreans tend to value the group’s goals. Americans tend to prefer one person’s goals. Koreans reported that they wanted more space from autistic people than Americans did. Koreans were more likely to think about autism with negative words (and think more negatively about autism). How Koreans and Americans report their feelings about autism was not related to their thoughts about autism. People who knew about autism and liked meeting with autistic people wanted to get closer to autistic people in South Korea and the US, Koreans who had met autistic people and thought that people who newly came to Korea from abroad should be more like Koreans did not want to get very close to autistic people. This could be because very few foreign people live in South Korea compared to the United States. Teaching Koreans that all cultures have values and should be appreciated will help them like autistic people more.
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15. Kim Y, Kim M, Park C, You JSH. Effects of Integrative Autism Therapy on Multiple Physical, Sensory, Cognitive, and Social Integration Domains in Children and Adolescents with Autism Spectrum Disorder: A 4-Week Follow-Up Study. Children (Basel, Switzerland). 2022; 9(12).
This study aimed to compare the effects of conventional autism therapy (CAT) and integrative autism therapy (IAT) in children and adolescents with autism spectrum disorder (ASD). A convenience sample of 24 children with ASD was recruited and underwent either CAT or IAT for 60 min/day, twice a week, for 20 sessions over 10 weeks. Outcome measures included the following: (1) physical domain (pediatric balance scale, PBS), (2) sensory domain (short sensory profile), (3) cognitive domains (functional independence measure, FIM; and childhood autism rating scale), and (4) social integration domain (Canadian occupational performance measure, COPM; short falls efficacy scale; and pediatrics quality of life questionnaire). Two-way repeated analysis of variance (ANOVA) was used to determine the intervention-related changes in the four domains across the pre-test, post-test, and follow-up test at p < 0.05. ANOVA showed significant interaction effects on the PBS, FIM, and COPM (p < 0.05) variables. Moreover, time main effects (p < 0.05) were observed in all four domain variables, but no group main effect was noted. This study provides promising evidence that IAT is more effective than CAT for managing children and adolescents with ASD.
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16. Li Y, Wang Y, Zhang T. Fecal Microbiota Transplantation in Autism Spectrum Disorder. Neuropsychiatric disease and treatment. 2022; 18: 2905-15.
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that begin in infancy. In recent years, the incidence of ASD in the world is increasing year by year. At present, the etiology and pathogenesis of ASD are not clear, and effective treatments are still lacking. In addition to neurobehavioral symptoms, children with ASD often have obvious gastrointestinal symptoms. Gut microbiota is a large microbial community in the human gut, which is closely related to the nervous system and can affect brain development and behavior through the neuroendocrine, neuroimmune and autonomic nervous systems, forming a microbiota-gut-brain axis connection. Recent studies have shown that children with ASD have significant gut microbiota and metabolic disorders, and fecal microbiota transplantation (FMT) is expected to improve ASD-related symptoms by regulating gut microbiota and metabolism. This review paper will therefore focus on FMT in the treatment of ASD, and FMT is effective in improving gastrointestinal and neurobehavioral symptoms in children with ASD.
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17. Liu ZC, Wu D, Qu AN, Wang LL. [Diversity and functional prediction of gut microbiota in children with autism spectrum disorder]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2022; 24(12): 1356-64.
OBJECTIVES: To study the structure and diversity of gut microbiota in children with autism spectrum disorder (ASD), and to predict the metabolic function of gut microbiota. METHODS: Fecal samples were collected from 30 ASD children (ASD group) and 20 typically developing (TD) children (TD group). Genomic DNA was extracted, the 16S rDNA V4 region was amplified by PCR, and Illumina NovaSeq6000 platform was used for high-throughput sequencing. The composition and distribution characteristics of gut microbiota were analyzed for the two groups, and the metabolic function of gut microbiota was predicted. RESULTS: There were no significant differences in alpha diversity indices (Chao1, Shannon, and Simpson) of gut microbiota between the ASD and TD groups (P>0.05). At the phylum and class levels, there was no significant difference in the structure of gut microbiota between the two groups (P>0.05). Compared with the TD group, the ASD group had significantly higher abundance of Megamonas, Barnesiella, Dialister, Megasphaera, Ruminococcus_torques_group, and Fusobacterium at the genus level (P<0.05). Functional prediction analysis showed that compared with the TD group, the ASD group had a significantly lower abundance of the gut microbiota with the metabolic functions such as tryptophan degradation, glutamate degradation, and butyrate production (P<0.05) and a significantly higher abundance of the gut microbiota with the metabolic function of GABA degradation (P<0.05). CONCLUSIONS: There is no significant difference in the alpha diversity of gut microbiota between ASD children and TD children, while there are differences in the composition of species at the genus level and the metabolic functions of gut microbiota.
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18. Lockwood Estrin G, Aseervatham V, De Barros CM, Chapple T, Churchard A, Harper M, Jones EJ, Mandy W, Milner V, O’Brien S, Senju A, Smith C, Smith J. Homelessness in autistic women: Defining the research agenda. Women’s health (London, England). 2022; 18: 17455057221141291.
BACKGROUND: Current evidence suggests that autistic individuals are at high risk for becoming and remaining in a cycle of homelessness. Key risk factors for homelessness disproportionately affect autistic people; however, we have limited understanding of how to best support autistic individuals accessing services. This gap in the evidence base is particularly acute for autistic women. OBJECTIVE: As a first step to address this gap, we aimed to (1) map gaps in knowledge and practice; (2) identify priority areas for research and (3) develop recommendations for how to implement novel research and practice in this area. METHODS: We conducted a collaborative workshop with an interdisciplinary group of 26 stakeholders to address our aims. Stakeholders included autistic women with experience of homelessness, researchers, health professionals, NGO representatives, and service providers. RESULTS AND RECOMMENDATIONS: Two research priority areas were identified to map the prevalence and demographics of autistic women experiencing homelessness, and to delineate risk and protective factors for homelessness. Priority areas for improving provision of support included staff training to improve communication, awareness of autism and building trust with service providers, and recommendations for practical provision of support by services. CONCLUSIONS: Future research is critical to increase our knowledge of the pathways leading to homelessness for autistic women, and barriers to engaging with homelessness and social services. We need to use this knowledge to develop new ways of delivering targeted and inclusive support for autistic women, which could prevent or shorten periods of homelessness.
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19. Lydell M, Kristén L, Nyholm M. Health promotion partnership to promote physical activity in Swedish children with ASD and ADHD. Health promotion international. 2022; 37(6).
Children with autism spectrum disorder (ASD) or attention-deficit/hyperactivity disorder (ADHD) have a higher risk of inactivity, and efforts to promote physical activity among this population have been limited. Physical activity on prescription (PAP) may be a suitable tool for motivating participation in physical activity among children with these diagnoses. However, PAP calls for synergy and partnership between health care and other sectors of the community. The aim of this study was to describe a health promotion partnership for physical activity targeting children with ASD or ADHD. Data were obtained through individual interviews with professionals at CAP (n = 11) and three focus-group interviews with coaches from local sports clubs. We used the Bergen Model of Collaborative Functioning as the theoretical framework and used qualitative content analysis as the method of analysis to study partnerships between professionals from the Child and Adolescent Psychiatry outpatient clinic (CAP) and coaches from local sport clubs. The findings demonstrate that the partnerships included both positive and negative processes. Although the two partners shared values regarding the project, such as working for a good cause for the children and seeing the potential in the collaboration, there were doubts about sharing common resources and uncertainties about the sustainability of the PAP project. Challenges remain and further research is needed into developing, monitoring and evaluating health promotion partnerships when promoting physical activity for all.
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20. Motlani V, Motlani G, Thool A. Asperger Syndrome (AS): A Review Article. Cureus. 2022; 14(11): e31395.
A variant of autism spectrum disorder (ASD) known as Asperger syndrome (AS) is characterized by severe issues with interpersonal, verbal, and nonverbal communication as well as restricted and repetitive patterns of behavior and activities. Although there is no known cause for ASD, various genetic as well as non-genetic risk factors that may act either alone or in combination to induce ASD have been identified. The occurrence of ASD has been increasing worldwide. Co-occurring neuropsychological diseases are frequently present as well. The premise for diagnosis is the observation of abnormal conduct, with diagnostic criteria emphasizing limitations in social interaction and communication as well as constrained, repetitive behavioral patterns, activities, or hobbies. The degree of the illness and the presence of intellectual impairment have a significant impact on the prognosis. Like autism, Asperger’s can neither be prevented nor treated. There is no specific medical therapy that can effectively cure all of the symptoms of autism. However, medications may be used as adjuvant therapy for maladaptive behaviors and co-occurring mental problems. The treatment aims to reduce core impairments, increase functional ability, and reduce harmful behaviors that could limit functional skills. It is crucial to provide proper care, establish supportive networks for individuals who are affected and their families, and use effective therapies to enhance functioning and results.
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21. Ozsivadjian A, Milner V, Pickard H, Hollock MJ, Gaigg SB, Colvert E, Happé F, Magiati I. Autistic and non-autistic young people’s and caregivers’ perspectives on COVID-19-related schooling changes and their impact on emotional well-being: An opportunity for change?. Autism : the international journal of research and practice. 2022: 13623613221140759.
Autistic young people experience poorer mental health and well-being compared to their non-autistic peers. Navigating the complex social, academic, procedural and sensory aspects of school may be particularly challenging for autistic young people and contribute to poorer mental well-being. The COVID-19 pandemic caused unprecedented school changes and provided a unique opportunity to gather caregiver’s and young people’s perspectives on the impact of school and pandemic-related school changes on the well-being of both autistic and non-autistic young people. We asked for the views of caregivers and young people aged 11-18 years gathered across three timepoints between May and December 2020. Their responses revealed both benefits and challenges associated with school changes. Insights into possible lessons from the pandemic and recommendations for more flexible, individualised and strengths-based educational practices are discussed.
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22. Pillai J, Dunn K, Efron D. Parent-reported factors associated with the emergency department presentation of children and adolescents with autism spectrum disorder and/or intellectual disability with behaviours of concern: a qualitative study. Archives of disease in childhood. 2022.
OBJECTIVE: We aimed to examine the parent-reported factors contributing to the emergency department (ED) presentation of children and adolescents with autism spectrum disorder (autism) and/or intellectual disability (ID) with behaviours of concern (BOC). DESIGN: Qualitative study using semistructured interviews. Data were analysed phenomenologically using inductive thematic analysis. SETTING: The ED of the Royal Children’s Hospital, Melbourne, Australia, a tertiary paediatric hospital. PARTICIPANTS: 14 parents and/or carers of children and adolescents with autism and/or ID who presented to ED for management of BOC. RESULTS: Three themes emerged from the data: (1) Parents and carers had difficulties navigating the healthcare system and accessing appropriate community supports prior to their child’s ED presentation; (2) Families presented to ED due to an inability to manage risk and/or contain their child’s behaviour, compounded by carer burn-out; (3) Presentation to ED was considered a last resort option for many families. The ED was generally unable to assist families in the ongoing management of their child’s BOC, leading to a potential need to re-present in future. CONCLUSIONS: This study highlights the need for families of children with autism and ID and associated BOC to have improved access to appropriately skilled community health professionals, allowing their BOC to be addressed as they emerge rather than at crisis point. The findings additionally highlight the need for changes to the delivery of acute care in the management of BOC, to minimise patient distress and maximise safe and satisfactory patient outcomes.
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23. Ramírez V, González-Palacios P, Baca MA, González-Domenech PJ, Fernández-Cabezas M, Álvarez-Cubero MJ, Rodrigo L, Rivas A. Effect of exposure to endocrine disrupting chemicals in obesity and neurodevelopment: The genetic and microbiota link. The Science of the total environment. 2022; 852: 158219.
Current evidence highlights the importance of the genetic component in obesity and neurodevelopmental disorders (attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and intellectual disability (ID)), given that these diseases have reported an elevated heritability. Additionally, environmental stressors, such as endocrine disrupting chemicals (EDCs) have been classified as obesogens, neuroendocrine disruptors, and microbiota disrupting chemicals (MDCs). For this reason, the importance of this work lies in examining two possible biological mechanistic pathways linking obesity and neurodevelopmental/behavioural disorders: EDCs – gene and EDCs – microbiota interactions. First, we summarise the shared mechanisms of action of EDCs and the common genetic profile in the bidirectional link between obesity and neurodevelopment. In relation to interaction models, evidence from the reviewed studies reveals significant interactions between pesticides/heavy metals and gene polymorphisms of detoxifying and neurotransmission systems and metal homeostasis on cognitive development, ASD and ADHD symptomatology. Nonetheless, available literature about obesity is quite limited. Importantly, EDCs have been found to induce gut microbiota changes through gut-brain-microbiota axis conferring susceptibility to obesity and neurodevelopmental disorders. In view of the lack of studies assessing the impact of EDCs – gene interactions and EDCs – mediated dysbiosis jointly in obesity and neurodevelopment, we support considering genetics, EDCs exposure, and microbiota as interactive factors rather than individual contributors to the risk for developing obesity and neurodevelopmental disabilities at the same time.
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24. Saletin JM, Koopman-Verhoeff ME, Han G, Barker DH, Carskadon MA, Anders TF, Sheinkopf SJ. Sleep Problems and Autism Impairments in a Large Community Sample of Children and Adolescents. Child psychiatry and human development. 2022.
Sleep problems are common in individuals with autism spectrum disorder (ASD). How sleep problems reflect specific ASD phenotypes is unclear. We studied whether sleep problems indexed functional impairment in a heterogeneous community sample of individuals with ASD. We analyzed 977 probands (233 females; age = 11.27 ± 4.13 years) from the Rhode Island Consortium for Autism Research and Treatment dataset, a unique public-private-academic collaboration involving all major points of service for families in Rhode Island. We found that individuals with a confirmed diagnosis of ASD were more likely to have sleep problems. However, across the whole sample and above and beyond a formal diagnosis, sleep problems were dimensionally associated with worse social impairment and poorer adaptive functioning. By using a large dataset reflective of the diversity of presentations in the community, this study underscores the importance of considering sleep problems in clinical practice to improve adaptive functioning in individuals with ASD.
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25. Szabó TM, Balogh I, Ujfalusi A, Szűcs Z, Madar L, Koczok K, Bessenyei B, Csürke I, Szakszon K. Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies. Genes. 2022; 13(12).
The ADNP-gene-related neurodevelopmental disorder Helsmoortel-Van der Aa syndrome is a rare syndromic-intellectual disability-an autism spectrum disorder first described by Helsmoortel and Van der Aa in 2014. Recently, a large cohort including 78 patients and their detailed phenotypes were presented by Van Dijck et al., 2019, who reported developmental delay, speech delay and autism spectrum disorder as nearly constant findings with or without variable cardiological, gastroenterological, urogenital, endocrine and neurological manifestations. Among cardiac malformations, atrial septal defect, patent ductus arteriosus, patent foramen ovale and mitral valve prolapse were the most common findings, but other unspecified defects, such as mild pulmonary valve stenosis, were also described. We present two patients with pathogenic ADNP variants and unusual cardiothoracic manifestations-Bland-White-Garland syndrome, pectus carinatum superiorly along the costochondral junctions and pectus excavatum inferiorly in one patient, and Kawasaki syndrome with pericardiac effusion, coronary artery dilatation and aneurysm in the other-who were successfully treated with intravenous immunoglobulin, corticosteroid and aspirin. Both patients had ectodermal and/or skeletal features overlapping those seen in RASopathies, supporting the observations of Alkhunaizi et al. 2018. on the clinical overlap between Helsmoortel-Van der Aa syndrome and Noonan syndrome. We observed a morphological overlap with the Noonan-like disorder with anagen hair in our patients.
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26. Thomson S, Drummond K, O’Hely M, Symeonides C, Chandran C, Mansell T, Saffery R, Sly P, Mueller J, Vuillermin P, Ponsonby AL. Increased maternal non-oxidative energy metabolism mediates association between prenatal di-(2-ethylhexyl) phthalate (DEHP) exposure and offspring autism spectrum disorder symptoms in early life: A birth cohort study. Environment international. 2022; 171: 107678.
Prenatal phthalate exposure has previously been linked to the development of autism spectrum disorder (ASD). However, the underlying biological mechanisms remain unclear. We investigated whether maternal and child central carbon metabolism is involved as part of the Barwon Infant Study (BIS), a population-based birth cohort of 1,074 Australian children. We estimated phthalate daily intakes using third-trimester urinary phthalate metabolite concentrations and other relevant indices. The metabolome of maternal serum in the third trimester, cord serum at birth and child plasma at 1 year were measured by nuclear magnetic resonance. We used the Small Molecule Pathway Database and principal component analysis to construct composite metabolite scores reflecting metabolic pathways. ASD symptoms at 2 and 4 years were measured in 596 and 674 children by subscales of the Child Behavior Checklist and the Strengths and Difficulties Questionnaire, respectively. Multivariable linear regression analyses demonstrated (i) prospective associations between higher prenatal di-(2-ethylhexyl) phthalate (DEHP) levels and upregulation of maternal non-oxidative energy metabolism pathways, and (ii) prospective associations between upregulation of these pathways and increased offspring ASD symptoms at 2 and 4 years of age. Counterfactual mediation analyses indicated that part of the mechanism by which higher prenatal DEHP exposure influences the development of ASD symptoms in early childhood is through a maternal metabolic shift in pregnancy towards non-oxidative energy pathways, which are inefficient compared to oxidative metabolism. These results highlight the importance of the prenatal period and suggest that further investigation of maternal energy metabolism as a molecular mediator of the adverse impact of prenatal environmental exposures such as phthalates is warranted.
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27. Torenvliet C, Groenman AP, Radhoe TA, Agelink van Rentergem JA, Geurts HM. One size does not fit all: An individualized approach to understand heterogeneous cognitive performance in autistic adults. Autism research : official journal of the International Society for Autism Research. 2022.
Cognitive performances of autistic people vary widely. Therefore, previous group-based comparisons on cognitive aging in autistic adults might have overlooked those autistic adults that are particularly vulnerable for cognitive decline. Multivariate normative comparisons (MNC) statistically assess individual cognitive differences on the entire cognitive profile. Cognitive deviancy as indicated by MNC accurately predicts future cognitive decline, and is therefore sensitive in detecting meaningful cognitive differences. The current study aimed to (1) investigate the applicability of MNC to assess cognitive performance in autism individually, and (2) understand heterogeneous cognitive performance in autistic adults. As pre-registered, we performed MNC in a sample of 254 non-autistic adults, and two independent samples of respectively 118, and 86 autistic adults (20-85 years, mean: 50 years). Cognitive performance was measured on 11 outcomes in six domains (verbal/visual memory, working memory, verbal fluency, Theory of Mind, and psychomotor speed). Using MNC, about twice as many autistic individuals had a deviant cognitive profile (i.e., deviated statistically from the multivariate normspace) as compared to non-autistic individuals. Importantly, most autistic individuals (>80%) did not have a deviant cognitive profile. Having a deviant profile was significantly associated with higher levels of psychological distress in autistic adults specifically, showing the clinical relevance of this method. Therefore, MNC seem a useful tool to individually detect meaningful cognitive differences in autism. These results are consistent with previous cognitive studies suggesting that most autistic adults show fairly similar cognitive profiles to non-autistic adults, yet highlight the necessity for approaches reflecting the heterogeneity observed in autistic people.
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28. Vuijk R, Deen M, Geurts HM, Arntz A. Schema Therapy for personality disorders in autistic adults: Results of a multiple case series study. Clinical psychology & psychotherapy. 2022.
BACKGROUND: To our knowledge, treatment of personality disorder (PD) comorbidity in autistic adults is understudied, and is still in its infancy. We investigated the effectiveness of Schema Therapy (ST) for autistic adults with personality disorder (PD). METHOD: A multiple case series design with 12 adults (aged 19-62 years) was used with baseline, exploration, ST (with cognitive behavioural and experiential techniques), and follow-up conditions. Participants rated dysfunctional core beliefs (primary outcome) weekly during baseline and treatment, and monthly during follow-up. Schema modes, general mental health symptoms, social responsiveness, PD-traits, and common Axis-I mental disorders were assessed. RESULTS: Mixed model analyses indicated significant effects of ST with medium to large effect sizes for dysfunctional core beliefs, functional schema modes, PD-traits, general mental health symptoms, and social responsiveness. Results remained stable during follow-up. CONCLUSION: The results of this study indicate that ST might be effective in decreasing dysfunctional core beliefs, PD traits, general mental health symptoms, and increasing functional schema modes and social responsiveness. Improvements persisted over time. ST seems effective in treating PD in autistic individuals.
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29. Weichselbaum C, Hendrix N, Albright J, Dougherty JD, Botteron KN, Constantino JN, Marrus N. Social attention during object engagement: toward a cross-species measure of preferential social orienting. Journal of neurodevelopmental disorders. 2022; 14(1): 58.
BACKGROUND: A central challenge in preclinical research investigating the biology of autism spectrum disorder (ASD) is the translation of ASD-related social phenotypes across humans and animal models. Social orienting, an observable, evolutionarily conserved behavior, represents a promising cross-species ASD phenotype given that disrupted social orienting is an early-emerging ASD feature with evidence for predicting familial recurrence. Here, we adapt a competing-stimulus social orienting task from domesticated dogs to naturalistic play behavior in human toddlers and test whether this approach indexes decreased social orienting in ASD. METHODS: Play behavior was coded from the Autism Diagnostic Observation Schedule (ADOS) in two samples of toddlers, each with and without ASD. Sample 1 (n = 16) consisted of community-ascertained research participants, while Sample 2 involved a prospective study of infants at a high or low familial liability for ASD (n = 67). Coding quantified the child’s looks towards the experimenter and caregiver, a social stimulus, while playing with high-interest toys, a non-social stimulus. A competing-stimulus measure of « Social Attention During Object Engagement » (SADOE) was calculated by dividing the number of social looks by total time spent playing with toys. SADOE was compared based on ASD diagnosis and differing familial liability for ASD. RESULTS: In both samples, toddlers with ASD exhibited significantly lower SADOE compared to toddlers without ASD, with large effect sizes (Hedges’ g ≥ 0.92) driven by a lower frequency of child-initiated spontaneous looks. Among toddlers at high familial likelihood of ASD, toddlers with ASD showed lower SADOE than toddlers without ASD, while SADOE did not differ based on presence or absence of familial ASD risk alone. SADOE correlated negatively with ADOS social affect calibrated severity scores and positively with the Communication and Symbolic Behavior Scales social subscale. In a binary logistic regression model, SADOE alone correctly classified 74.1% of cases, which rose to 85.2% when combined with cognitive development. CONCLUSIONS: This work suggests that a brief behavioral measure pitting a high-interest nonsocial stimulus against the innate draw of social partners can serve as a feasible cross-species measure of social orienting, with implications for genetically informative behavioral phenotyping of social deficits in ASD and other neurodevelopmental disorders.
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30. Zhou HY, Zhang YJ, Hu HX, Yan YJ, Wang LL, Lui SSY, Chan RCK. Neural correlates of audiovisual speech synchrony perception and its relationship with autistic traits. PsyCh journal. 2022.
The anterior insula (AI) has the central role in coordinating attention and integrating information from multiple sensory modalities. AI dysfunction may contribute to both sensory and social impairments in autism spectrum disorder (ASD). Little is known regarding the brain mechanisms that guide multisensory integration, and how such neural activity might be affected by autistic-like symptoms in the general population. In this study, 72 healthy young adults performed an audiovisual speech synchrony judgment (SJ) task during fMRI scanning. We aimed to investigate the SJ-related brain activations and connectivity, with a focus on the AI. Compared with synchronous speech, asynchrony perception triggered stronger activations in the bilateral AI, and other frontal-cingulate-parietal regions. In contrast, synchronous perception resulted in greater involvement of the primary auditory and visual areas, indicating multisensory validation and fusion. Moreover, the AI demonstrated a stronger connection with the anterior cingulate gyrus (ACC) in the audiovisual asynchronous (vs. synchronous) condition. To facilitate asynchrony detection, the AI may integrate auditory and visual speech stimuli, and generate a control signal to the ACC that further supports conflict-resolving and response selection. Correlation analysis, however, suggested that audiovisual synchrony perception and its related AI activation and connectivity did not significantly vary with different levels of autistic traits. These findings provide novel evidence for the neural mechanisms underlying multisensory temporal processing in healthy people. Future research should examine whether such findings would be extended to ASD patients.