1. Andreou M, Konstantopoulos K, Peristeri E. Cognitive flexibility in autism: Evidence from young autistic children. Autism Res;2022 (Oct 4)

We examined the cognitive flexibility performance of young autistic children and a group of neurotypical peers. Thirty-six autistic children (72-83 months) and 200 age-matched typically-developing children were assessed on the Children’s Color Trails Test (CCTT), a semantic and a phonemic verbal fluency task. The results showed that the autistic children performed worse than their neurotypical peers in the switching component of the CCTT. In the fluency tests, the autistic group generated overall fewer word items than their neurotypical peers, however, their poorer performance was driven by specific linguistic stimuli in the fluency tasks. The findings suggest that cognitive flexibility for the autistic children was affected in the nonverbal CCTT only, while poor performance in semantic and phonemic fluency seemed to be inherent to the language properties of the verbal fluency tasks. LARY SUMMARY: The current study aims to determine whether the Children’s Color Trails Test (CCTT) and verbal (semantic and phonemic) fluency tasks are appropriate to assess cognitive flexibility in young autistic children. The overall findings showed poor performance for the autistic children in the CCTT. On the other hand, verbal fluency performance seemed to be driven by language features specific to the semantic and the phonemic fluency tasks rather than by difficulties in cognitive flexibility.

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2. Antony C, Campbell M, Côté S, Bruno G, Tinglin C, Lai J. Informing care pathways and policies for children and youth with Indigenous perspectives to advance Canada’s National Autism Strategy. Front Psychiatry;2022;13:916256.

In Canada, most services for Autistic people are provided by provincial and territorial governments. However, support for Indigenous Peoples (First Nations, Inuit, and Métis) are under federal responsibility and are outlined by a set of treaties and agreements with the Crown and a few regional governments. This patchwork results in barriers in service access and navigation challenges in many under-resourced communities, including under-diagnosis and potentially life-threatening outcomes. Designing equitable policy structures and processes would reduce harms and meaningfully interface with Indigenous and other racialized communities. The objective of this Policy Practice Review is to provide a framework for the discovery of appropriate care strategies addressing the conceptualization of autism in Indigenous Peoples and to understand the interactions between racialized Autistic peoples and the Criminal Justice System. First, we conducted environmental scans of publicly-accessible government services available in Canada pertaining to autism in Indigenous communities and the justice system, and explored the dissonance with beliefs and perceptions of autism in Northern Indigenous communities. Second, we focused on the interactions of Indigenous and other racialized populations, with an emphasis on Autistic children and youth with the justice system, an interaction that is often life-altering, downstream, and detrimental to health and wellbeing. The implications of this work include identifying the need for Indigenous-led knowledge and policy recommendations for Canada’s upcoming National Autism Strategy, informing the need for culturally appropriate multidisciplinary care and facilitating the coordination between health and social services for these communities.

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3. Barger B, Larson LR, Torquati J, Moody E, Ogletree S, Rosenberg S. The complex relationship between greenspace and well-being in children with and without autism. Appl Psychol Health Well Being;2022 (Oct 4)

Greenspace (defined here as canopy coverage) positively correlates with improved well-being in typically developing individuals, but this relationship has not been established in children with autism spectrum disorder (ASD). To investigate this relationship, the current study merged data from the National Survey of Children’s Health (2012) with the National Land Cover Database. Across typically developing children, children with ASD, and non-autistic children with special healthcare needs (CSHCN), greenspace unexpectedly negatively correlated with well-being. Further, compared with typically developing children, children with ASD or CSHCN status had lower well-being. Interestingly, typically developing children with conduct problems displayed an unexpected negative relationship (i.e. as greenspace increased whereas well-being decreased), though those without conduct problems showed no relationship. Children with ASD displayed no relationship between greenspace independent of conduct problems. CSHCN displayed non-significant trends suggesting mild positive relationships between greenspace and well-being. These data indicate the relationship between greenspace and well-being is more complex than expected and may depend on the diagnostic traits of the population studied.

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4. Barik K, Watanabe K, Bhattacharya J, Saha G. A Fusion-Based Machine Learning Approach for Autism Detection in Young Children Using Magnetoencephalography Signals. J Autism Dev Disord;2022 (Oct 3)

In this study, we aimed to find biomarkers of autism in young children. We recorded magnetoencephalography (MEG) in thirty children (4-7 years) with autism and thirty age, gender-matched controls while they were watching cartoons. We focused on characterizing neural oscillations by amplitude (power spectral density, PSD) and phase (preferred phase angle, PPA). Machine learning based classifier showed a higher classification accuracy (88%) for PPA features than PSD features (82%). Further, by a novel fusion method combining PSD and PPA features, we achieved an average classification accuracy of 94% and 98% for feature-level and score-level fusion, respectively. These findings reveal discriminatory patterns of neural oscillations of autism in young children and provide novel insight into autism pathophysiology.

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5. Barnard-Brak L, Richman DM, Mutua K, Williamson A. Predictors of employment for adults with intellectual and developmental disabilities participating in a postsecondary transition program in the United States. J Appl Res Intellect Disabil;2022 (Oct 4)

BACKGROUND: Previous research has shown that post-secondary collegiate vocational educational programs often have positive effects on employment outcomes for young adults with intellectual and developmental disabilities. AIMS: Using secondary data of a program in the United States collected over several years, we examined which intervention components of a postsecondary education transition program predicted subsequent employment for young adults with intellectual and developmental disabilities. MATERIALS & METHODS: The sample consisted of 56 individuals that participated in a transition-services collegiate program; Crossing Points, University of Alabama. RESULTS: Results were able to robustly indicate that acquiring job-specific skills was a much better predictor than global measures of intellectual or adaptive behaviour. Additionally, survival curve analyses as an innovative approach to this population showed that there was a positive relation between the number of job-specific training sessions and eventual community employment. DISCUSSION: Results are discussed in relation to a historical parallel movement to expand inclusion of students with intellectual and developmental disabilities in the least restrictive educational setting for primary and secondary public education years. CONCLUSION: In conclusion, the results of the current study suggest positive findings with job-skills training both specific and general.

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6. Bellon-Harn ML, Boyd RL, Manchaiah V. Applied Behavior Analysis as Treatment for Autism Spectrum Disorders: Topic Modeling and Linguistic Analysis of Reddit Posts. Front Rehabil Sci;2021;2:682533.

Background: It is critical for professionals to understand the discourse landscape within various online and social media outlets in order to support families of children with autism in treatment decision-making. This need is heightened when considering treatments that have garnered excitement and controversy, such as applied behavioral analysis (ABA) therapy. Method: The specific aims of this study were to identify the main themes in Reddit posts about ABA-based interventions for autism using topic modeling, to examine the linguistic aspects of Reddit conversations using the Linguistic Inquiry and Word Count (LIWC) analysis, and to examine the relationship between linguistic aspects and user category (i.e., pro- vs. anti-ABA vs. undecided, parent vs. professional vs. an individual with autism). Results: The topic modeling resulted in 11 themes that ranged across various elements, such as autism as a condition and its management, stakeholders, and consequences of autism and the support needed. The posts of individuals were focused on personal experiences and opinions as opposed to clinical and research information sharing. Linguistic analysis indicated that the posts reveal an intimate stance rather than an empirical stance. Conclusions: Results provide insight into perspectives of ABA. This type of research may help in developing and distributing appropriate and evidence-based information.

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7. Bendixen RM, Benevides T, Ideishi R, Smythe R, Taylor J, Umeda C, Kerfeld C, Jirikowic T. Community Conversations: Stakeholder-Identified Research Priorities to Foster Community Participation for Individuals With Intellectual and Developmental Disability. Front Rehabil Sci;2022;3:873415.

To identify future research priorities and meaningful outcomes focused on community-level interventions for children and youth with intellectual and developmental disabilities and families, a group underrepresented in research, we established a diverse patient-centered outcomes research (PCOR) community. We focused on engaging regionally and nationally-diverse stakeholders-individuals, families, healthcare professionals, community, and policy experts-in research development activities that would build partnerships and research capacity. This community of stakeholders also represented the matrix of systems, services, and programs that people frequent in their communities (e.g., cultural arts, worship, sports and recreation, and transportation). We present the engagement process and methods for including individuals with intellectual and developmental disabilities as stakeholders in research planning and processes. The results of planning, completing, and evaluating three face-to-face research capacity-building meetings and their subsequent stakeholder engagement activities include: (1) individuals with intellectual and developmental disabilities and their families clearly expressed a desire to be included and to feel good about their participation in community settings, (2) many of our stakeholders wanted action and change to happen in their communities now, and often did not realize or understand that research takes time, (3) organizations expressed a need for mentoring related to best practices for access and inclusive programming. Overarching issues around societal inclusion, equal opportunities, and life chances for individuals with intellectual and developmental disabilities and their families were front and center across communities and multi-stakeholder groups, and achieving change remains valued and a high priority.

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8. Bolbocean C, Rhidenour KB, McCormack M, Suter B, Holder JL. Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family’s quality of life and parent-child relationships. Autism Res;2022 (Oct 4)

Family quality of life (FQoL) outcomes collected during the first year of COVID-19 has been combined with 2018 data to estimate the outbreak’s impact on parental outcomes on a sample of 230 families with syndromic autistic children and those with intellectual disabilities (IDs). Despite challenges imposed by the COVID-19 outbreak, our study found that FQoL outcomes reported by participating parents during the first year of COVID-19 appears to be similar to ratings from a prepandemic study of families with the same conditions. Parents of children in our sample generally displayed a stable functioning trajectory as measured by the validated FQoL instrument. Across syndromic autistic groups considered, families reported that their relationships with their children were positive. Our findings provide evidence of families’ resilience which might explain the presence of positive parent-child interactions during COVID-19. Exploring mechanisms which would explain how families with autistic and ID children confront, manage disruptive experiences, and buffer COVID-19 induced stress is a fruitful direction for future research. LAY SUMMARY: Despite challenges imposed by the COVID-19 outbreak, our study found that the quality of life reported by participating families during the first year of COVID-19 appears to be similar to ratings from a prepandemic study of families with the same conditions. The COVID-19 pandemic and related lockdowns were found to be positively associated with parent-child bonding, relational satisfaction, and increased emotional connection between parents and their children. Our findings provide evidence of families’ resilience which might explain the presence of positive parental-child interactions during COVID-19.

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9. Bottema-Beutel K, LaPoint SC, Kim SY, Mohiuddin S, Yu Q, McKinnon R. An evaluation of intervention research for transition-age autistic youth. Autism;2022 (Oct 3):13623613221128761.

In this study, we assess the quality of intervention research that focuses on autistic youth who are 14-22 years old. We found 193 different studies on this topic, and carefully reviewed them. Most of these studies tested strategies that were behavioral. This means that they used procedures like prompting and rewards to change participants’ behavior. We found that the majority of studies had problems that make it hard to determine whether or not the intervention worked. The problems related to how researchers designed their studies, and how they measured the study outcomes. We also found that researchers rarely tried to find out if the strategies they studied had unintended negative effects for participants. Because of these issues, we make suggestions for how researchers might design better studies that will let people know how well the strategies worked.

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10. Bradley V, Hiersteiner D. Quality monitoring of intellectual and developmental disabilities systems in the US: Assessing the utility and applicability of selected National Core Indicators to national and state priorities. Front Rehabil Sci;2022;3:960996.

This article provides historical context on the evolution of performance measures for system improvement, examines the perspectives and insights of state public managers on the use and utility of NQF-endorsed outcome measures from the NCI(®)-IDD In-Person Survey (IPS) for quality improvement, and discusses the necessity of ensuring that outcome measures align with public policy goals.

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11. Canu D, Ioannou C, Müller K, Martin B, Fleischhaker C, Biscaldi M, Beauducel A, Smyrnis N, van Elst LT, Klein C. Evidence towards a continuum of impairment across neurodevelopmental disorders from basic ocular-motor tasks. Sci Rep;2022 (Oct 3);12(1):16521.

Findings of genetic overlap between Schizophrenia, Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) contributed to a renewed conceptualization of these disorders as laying on a continuum based on aetiological, pathophysiological and neurodevelopmental features. Given that cognitive impairments are core to their pathophysiology, we compared patients with schizophrenia, ADHD, ASD, and controls on ocular-motor and manual-motor tasks, challenging crucial cognitive processes. Group comparisons revealed inhibition deficits common to all disorders, increased intra-subject variability in schizophrenia and, to a lesser extent, ADHD as well as slowed processing in schizophrenia. Patterns of deviancies from controls exhibited strong correlations, along with differences that posited schizophrenia as the most impaired group, followed by ASD and ADHD. While vector correlations point towards a common neurodevelopmental continuum of impairment, vector levels suggest differences in the severity of such impairment. These findings argue towards a dimensional approach to Neurodevelopmental Disorders’ pathophysiological mechanisms.

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12. Dal Pai J, Wolff CG, Aranchipe CS, Kepler CK, Dos Santos GA, Canton LAL, de Carvalho AB, Richter SA, Nunes ML. COVID-19 Pandemic and Autism Spectrum Disorder, Consequences to Children and Adolescents – a Systematic Review. Rev J Autism Dev Disord;2022 (Sep 23):1-26.

In this systematic review, we aimed to identify the impact of the COVID-19 pandemic on children/adolescents with a diagnosis of autism spectrum disorder (ASD). The protocol was registered on PROSPERO CRD42021255848. Articles were selected from PubMed, Embase, and LILACS according to these characteristics: patients from zero to 18 years old, exposed to the COVID-19 pandemic, impact on social communication/interaction and restricted/repetitive behavior domains. The Newcastle-Ottawa Scale was used to assess methodological quality and the risk of bias. Of the 351 articles initially identified, 26 were finally included with information on 8,610 patients. Although the studies were heterogeneous, they indicated that the pandemic-related issues experienced by patients with ASD were mostly manifested in their behavior and sleep patterns. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s40489-022-00344-4.

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13. Fiksinski AM, Hoftman GD, Vorstman JAS, Bearden CE. A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome. Mol Psychiatry;2022 (Oct 3)

Recently, increasing numbers of rare pathogenic genetic variants have been identified that are associated with variably elevated risks of a range of neurodevelopmental outcomes, notably including Autism Spectrum Disorders (ASD), Schizophrenia Spectrum Disorders (SSD), and Intellectual Disability (ID). This review is organized along three main questions: First, how can we unify the exclusively descriptive basis of our current psychiatric diagnostic classification system with the recognition of an identifiable, highly penetrant genetic risk factor in an increasing proportion of patients with ASD or SSD? Second, what can be learned from studies of individuals with ASD or SSD who share a common genetic basis? And third, what accounts for the observed variable penetrance and pleiotropy of neuropsychiatric phenotypes in individuals with the same pathogenic variant? In this review, we focus on findings of clinical and preclinical studies of the 22q11.2 deletion syndrome (22q11DS). This particular variant is not only one of the most common among the increasing list of known rare pathogenic variants, but also one that benefits from a relatively long research history. Consequently, 22q11DS is an appealing model as it allows us to: (1) elucidate specific genotype-phenotype associations, (2) prospectively study behaviorally defined classifications, such as ASD or SSD, in the context of a known, well-characterized genetic basis, and (3) elucidate mechanisms underpinning variable penetrance and pleiotropy, phenomena with far-reaching ramifications for research and clinical practice. We discuss how findings from animal and in vitro studies relate to observations in human studies and can help elucidate factors, including genetic, environmental, and stochastic, that impact the expression of neuropsychiatric phenotypes in 22q11DS, and how this may inform mechanisms underlying neurodevelopmental expression in the general population. We conclude with research priorities for the field, which may pave the way for novel therapeutics.

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14. Friebel R, Maynou L. Assessing The Dangers Of A Hospital Stay For Patients With Developmental Disability In England, 2017-19. Health Aff (Millwood);2022 (Oct);41(10):1486-1495.

People with developmental disability have higher health care needs and lower life expectancy compared with the general population. Poor quality of care resulting from interpersonal and systemic discrimination may further entrench existing inequalities. We examined the prevalence of five avoidable in-hospital patient safety incidents (adverse drug reactions, hospital-acquired infections, pressure ulcers, postoperative pulmonary embolism or deep vein thrombosis, and postoperative sepsis) for four developmental disability groups (people with intellectual disability, chromosomal abnormalities, pervasive developmental disorders, and congenital malformation syndrome) in the English National Health Service during the period April 2017-March 2019. We found that the likelihood of experiencing harm in disability groups was up to 2.7-fold higher than in patients without developmental disability. Patient safety incidents led to an excess length-of-stay in hospital of 3.6-15.4 days and an increased mortality risk of 1.4-15.0 percent. We show persisting quality differences in patients with developmental disability, requiring an explicit national policy focus on the needs of such patients to reduce inequalities, reach parity of care, and lower the burden on health system resources.

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15. Friedman C. The Impact of Human Service Provider Quality on the Personal Outcomes of People With Intellectual and Developmental Disabilities. Front Rehabil Sci;2021;2:780168.

BACKGROUND: Quality of life is multidimensional-influenced by individual, organizational, and environmental factors. As such, when examining personal outcomes, it is also important to consider meso and macro factors that contribute to people with intellectual and developmental disabilities’ (IDD’s) quality of life. While it is widely acknowledged that organizational factors contribute to people’s quality of life, there is less research directly examining how the quality of human service providers contributes to people with IDD’s personal outcomes. For these reasons, the aim of this study was to explore the relationship between provider quality and people with IDD’s personal quality of life outcomes. METHODS: Using a multilevel linear regression we analyzed secondary Personal Outcome Measures® (personal outcomes) and Basic Assurances® (provider quality) data from 2,900 people with IDD served by 331 human service providers. RESULTS: People with IDD’s personal outcomes, regardless of their support needs or other demographics, were significantly impacted by the quality of the human service providers they received services from-the higher the quality of the provider, the more personal outcomes they had present. In addition, the following demographic covariates were correlated with personal outcomes: gender; race; complex support needs; residence type; and organizations that offered therapy services. DISCUSSION: While quality improvement initiatives may require a great deal of cost and time commitment from providers, our findings suggest the effort translates to improved personal outcomes among people with IDD. The ultimate goal of service providers should be improvement of quality of life among those they support.

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16. Giummarra MJ, Randjelovic I, O’Brien L. Interventions for social and community participation for adults with intellectual disability, psychosocial disability or on the autism spectrum: An umbrella systematic review. Front Rehabil Sci;2022;3:935473.

OBJECTIVE: This umbrella systematic review examined the effectiveness, facilitators, and barriers of interventions for social, community and civic participation for adults on the autism spectrum, or with intellectual or psychosocial disability. DATA SOURCES: Eight databases were searched to identify eligible reviews defined by the: Sample (≥50% adults on the autism spectrum or with intellectual or psychosocial disability), Phenomena of Interest (interventions in community settings that aimed to improve social, community or civic participation, or capacity to participate), Design (any), Evaluation (any method that evaluated impacts on participation or capacity to participate), and Research type (reviews as journal articles, dissertations or in grey literature, in English, published 2010-2020). REVIEW METHODS: Rapid review methods were used. One researcher screened 27,890 records and 788 potentially eligible full texts. A second reviewer independently screened 20% of records, and ambiguous full text publications. Study quality was extracted, and review quality was assessed with the Assessing Methodological Quality of Systematic Reviews (AMSTAR) checklist. Data from 522 studies in 57 eligible systematic reviews were extracted for narrative synthesis. The Corrected Covered Area (CCA) was calculated to indicate overlap between reviews. RESULTS: There was a pooled sample of 28,154 study participants, predominantly from studies in North America, the UK and Europe. There was very low overlap between reviews (CCA = 0.3%). Reviews were predominantly low quality: 77.2% of reviews met <50% of AMSTAR criteria. Most studies were low (45.4%) or moderate (38.3%) quality. Three broad intervention categories improved participation, inclusion and belonging outcomes: (1) interventions to help people identify and connect with participation opportunities (e.g., person centred planning); (2) participation opportunities or activities (e.g., joining a community group, sports or outdoor activities, or arts-based activities); and (3) supports to build skills and capacity to participate socially and in the community. CONCLUSIONS: The evidence highlighted that improved social and community participation requires purposeful strategies that identify meaningful participation preferences (e.g., where, when, how, and with whom) and provide support to build capacity or enable ongoing participation. Community capacity building, peer support and advocacy may also be needed to make the community more accessible, and to enable people to exercise genuine choice.

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17. Gosling CJ, Cartigny A, Mellier BC, Solanes A, Radua J, Delorme R. Correction: Efficacy of psychosocial interventions for Autism spectrum disorder: an umbrella review. Mol Psychiatry;2022 (Oct 4)

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18. Hai Y, Leng G. A more than four-fold sex-specific difference of autism spectrum disorders and the possible contribution of pesticide usage in China 1990-2030. Front Public Health;2022;10:945172.

Autism spectrum disorders (ASDs) are prevalent in children and adolescents and disproportionately affect males, and the main contributing factors underlying male vulnerability remain widely unknown. Pesticide use is widely reported to be associated with ASD risk, and the cases of pesticide poisoning incidence in rural areas are remarkably higher than those in the urban areas while the prevalence of ASDs in rural areas was higher than that in urban areas and the rate of male pesticide poisoning was significantly higher than female. Thus, pesticide usage may be an important contributing factor for causing sex-specific differences of ASD incidence. ASD burden was analyzed by using the data of ASD number, ASD rate (ASD cases per 100,000 persons) and disability-adjusted life years (DALYs) from 1990 to 2019. The changes from 1990 to 2030 were predicted using autoregressive integrated moving average (ARIMA) in time series forecasting based on the small values of Akaike information criterion and Bayesian information criterion. Finally, the relationship between ASD rate and pesticide usage risk index (PURI) was analyzed via Pearson’s correlation coefficient. ASD number, ASD rate and DALYs will be reduced by 45.5% ± 8.2% (t = 9.100 and p = 0.0119), 56.6% ± 10.2% (t = 9.111 and p = 0.0118), and 44.9% ± 7.0% (t = 20.90 and p = 0.0023) from 1990 to 2030 in China. PURI has a strong relationship with ASD rate (rho = 0.953 to 0.988 and p < 0.0001). Pesticide poisoning incidence in males is up to 2-fold higher than that in females. ASD number and DALYs in males are 4-fold higher than those in females. Furthermore, there is growing evidence supporting that males are more susceptible than females to pesticides with sex differences in neurotoxicogenetics. Therefore, pesticide poisoning may be a contributing factor for causing the sex differences of ASD. Much work still needs to be done to confirm that.

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19. Haligheri G, Johnson T, Kathol M, Kuzava L, Goth N, Staggs VS, Donnelly JE, Ptomey LT, Forsha D. Early cardiac dysfunction in obese adolescents with Down syndrome or autism. Cardiol Young;2022 (Oct 3):1-8.

BACKGROUND: Obesity in adolescents with intellectual and developmental disabilities) occurs at twice the frequency as their typically developing peers. Typically developing adolescents with obesity have abnormal cardiac function (as measured by strain echocardiography) and cardiac mass, but the effects of obesity on cardiac health in adolescents with Down syndrome or autism spectrum disorder are unknown. The purpose of this study was to evaluate the impact of body mass index on cardiac function in adolescents with Down syndrome or autism. METHODS: Adolescents (age 12-21 years) with Down syndrome (n = 28), autism (n = 33), and age-/sex-matched typically developing controls (n = 15) received an echocardiogram optimised for strain analysis at a single timepoint. Measures of ventricular function, mass, and size were collected. Regression modelling evaluated the impact of body mass index and intellectual and developmental disabilities diagnosis on these cardiac measures. RESULTS: In regression modelling, an elevated body mass index z-score was associated with diminished systolic biventricular function by global strain (left ventricular longitudinal strain β 0.87, P < 0.001; left ventricular circumferential strain β 0.57, p 0.003; right ventricular longitudinal strain β 0.63, P < 0.001). Diminished left ventricular diastolic function by early diastolic strain rate was also associated with elevated body mass index (global longitudinal end-diastolic strain rate β -0.7, P < 0.001). No association was found between traditional (non-strain) measures of systolic and diastolic ventricular function and body mass index z-score. CONCLUSIONS: Obesity in adolescents with Down syndrome or autism negatively impacts cardiac function as measured by echocardiographic strain analysis that was not detected by traditional parameters.

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20. Hall LJ, Hoxie NA, Grundon GS, Cordero YN. Parent-Researcher Perspectives on Role Intersectionality Related to Autism Research. Front Rehabil Sci;2022;3:718398.

Although parents of children with autism who are also experts in a related profession have been instrumental in shaping current practices, there is little known about parent-researchers and the benefits and obstacles to including individuals with these intersectional identities on autism focused research teams. The following study used collaborative autoethnographies from three parent-researchers hired for a large scale, federally funded project. The parent-researchers, and co-authors, collaborated on all phases of the reported study. Common themes generated from the shared perspectives included: prioritizing children and professional sacrifices; professional training as an asset for parents; potential bias toward parents in professional contexts; assets as parent-professionals; and obstacles for maintaining intersectional roles of parent-professionals. Recommendations for autism researchers and considerations for employing and supporting parent-researchers are discussed.

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21. Iacobucci G. Patients with developmental disability at higher risk of preventable harm in hospitals, study finds. BMJ;2022 (Oct 4);379:o2390.

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22. Jia H, Wu X, Wu Z, Wang E. Aberrant dynamic minimal spanning tree parameters within default mode network in patients with autism spectrum disorder. Front Psychiatry;2022;13:860348.

The altered functional connectivity (FC) level and its temporal characteristics within certain cortical networks, such as the default mode network (DMN), could provide a possible explanatory framework for Autism spectrum disorder (ASD). In the current study, we hypothesized that the topographical organization along with its temporal dynamics of the autistic brain measured by temporal mean and variance of complex network measures, respectively, were significantly altered, which may further explain the autistic symptom severity in patients with ASD. To validate these hypotheses, the precise FCs between DMN regions at each time point were calculated using the resting-state functional magnetic resonance imaging (fMRI) datasets from the Autism Brain Imaging Data Exchange (ABIDE) project. Then, the minimal spanning tree (MST) technique was applied to construct a time-varying complex network of DMN. By analyzing the temporal mean and variance of MST parameters and their relationship with autistic symptom severity, we found that in persons with ASD, the information exchange efficiencies between cortical regions within DMN were significantly lower and more volatile compared with those in typical developing participants. Moreover, these alterations within DMN were closely associated with the autistic symptom severity of the ASD group.

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23. Koziarz F, Roncadin C, Kata A, Duku E, Cauwenbergs A, Mahoney W, Di Rezze B, Anderson C, Drmic I, Eerkes J, Dekker K, Georgiades K, Hoult L, Kraus de Camargo O, Ng O, Rosenbaum P, Mesterman R, Gentles SJ, Robertson S, Bennett T, Georgiades S. Investigating the Associations Between Child Autistic Symptoms, Socioeconomic Context, and Family Life: A Pilot Study. Front Rehabil Sci;2021;2:748346.

Objective: The day-to-day experience of families with an Autistic child may be shaped by both, child characteristics and available resources, which often are influenced by the socioeconomic context of the family. Using a socioecological approach, this study explored the quantitative associations between child autistic symptoms, family socioeconomic status, and family life. Methods: Data came from the Pediatric Autism Research Cohort-PARC Study (pilot). Parents of children with a recent diagnosis of autism completed a set of assessments, including the Autism Family Experience Questionnaire, Autism Impact Measure, and a Sociodemographic Questionnaire. A series of multiple, iterative linear regression models were constructed to ascertain quantitative associations between child autistic symptoms, socioeconomic context, and family life. Results: A total of 50 children (mean age: 76 months; SD: 9.5 months; and 84% male) with data on the variables of interest were included in the analysis. The frequency of child autistic symptoms was associated with family life outcomes (p = 0.02 and R (2) = 24%). Once autistic symptom frequency, symptom impact, and sociodemographic variables were considered, parents of higher educational attainment reported worse family life outcomes compared to their lesser-educated counterparts. This cumulative regression model had considerable explanatory capability (p = 0.01, R (2) = 40%). Conclusion: This study demonstrates the utility of using a socioecological approach to examine the dynamic interplay between child characteristics and family circumstances. Our findings suggest that family life for parents (of an autistic child) who have obtained higher education is reported (by the parents themselves) as less satisfactory compared to that of parents without higher education, once adjusted for the autistic symptom frequency of child, symptom impact, and income. These findings can inform the design and delivery of more family-centered care pathways during the years following a diagnosis of autism.

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24. Lee GK, Dueñas A, Lee EJ, Barrett CA, Chan CCH. Editorial: « Innovation informs best practices in autism intervention across the lifespan ». Front Rehabil Sci;2022;3:968309.

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25. Leibowitz R, Lewis S, Emery J, Massie J, Smith M, Delatycki M, Archibald A. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program. Aust J Prim Health;2022 (Oct 4)

BACKGROUND: The Royal Australian and New Zealand College of Obstetricians and Gynaecologists and The Royal Australian College of General Practice recommend that information on carrier screening for at least the most common inherited genetic conditions in our population, that is, thalassaemia, cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS), should be offered to all women planning pregnancy or in early pregnancy regardless of family history or ethnicity. The aim of this study was to investigate patterns of participation by healthcare providers (HCP) and the community in screening. METHODS: Participation in a Victorian program screening for CF, SMA and FXS between September 2013 and October 2018 was analysed. Requesting HCP and patient data were extracted from screening request forms. Data were analysed with respect to profession of requesting HCP, and characteristics of women screened (age, pregnancy status, socioeconomic status, geographic location, and family history of CF, SMA or FXS). In total, 21 172 women and 1288 HCPs participated in the program over this period. RESULTS: There was a steep socioeconomic gradient in screening uptake, with nearly half the women screened (10 349) being in the highest socioeconomic quintile. The screening rate was much higher in metropolitan areas than in regional areas. Obstetricians made most of the requests for screening, whereas 20% of requests were by GPs. Most participating GPs only made a single screening request (78%) and very few GPs made >100 screening requests compared with obstetricians (0.2% vs 17%). GPs were more likely to screen women before pregnancy compared with obstetricians (47% vs 11%). Approximately 1.5% of Victorian women of child-bearing age and 3% of pregnant Victorian women were screened by this program over the period of this study. CONCLUSION: This study highlights the translation gap between recommendations and practice, with marked inequity of access to reproductive genetic carrier screening in relation to socioeconomic status and geography. Increased participation by GPs could improve community access to reproductive genetic carrier screening, particularly access to preconception screening. Addressing the causes of inequity of access will allow more women and couples the opportunity to make informed choices about participation in screening.

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26. Manosso LM, Broseghini LDR, Campos JMB, Padilha APZ, Botelho MEM, da Costa MA, Abelaira HM, Gonçalves CL, Réus GZ. Beneficial effects and neurobiological aspects of environmental enrichment associated to major depressive disorder and autism spectrum disorder. Brain Res Bull;2022 (Sep 30)

A suitable enriched environment favors development but can also influence behavior and neuronal circuits throughout development. Studies have shown that environmental enrichment (EE) can be used as an essential tool or combined with conventional treatments to improve psychiatric and neurological symptoms, including major depressive disorder (MDD) and autism spectrum disorder (ASD). Both disorders affect a significant percentage of the world’s population and have complex pathophysiology. Moreover, the available treatments for MDD and ASD are still inadequate for many affected individuals. Experimental models demonstrate that EE has significant positive effects on behavioral modulation. In addition, EE has effects on neurobiology, including improvement in synaptic connections and neuroplasticity, modulation of neurotransmissions, a decrease in inflammation and oxidative stress, and other neurobiology effects that can be involved in the pathophysiology of MDD and ASD. Thus, this review aims to describe the leading behavioral and neurobiological effects associated with EE in MDD and ASD.

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27. Marfull-Oromí P, Onishi K, Zou Y. The fragile X syndrome protein FMRP participates in axon guidance mediated by the Wnt/planar cell polarity pathway. Neuroscience;2022 (Sep 30)

The Planar cell polarity (PCP) pathway is known to mediate the function of the Wnt proteins in growth cone guidance. Here, we show that the PCP pathway may directly influence local protein synthesis within the growth cones. We found that FMRP interacts with Fzd3. This interaction is negatively regulated by Wnt5a, which induces FMRP phosphorylation. Knocking down FMRP via electroporating shRNAs into the dorsal spinal cord lead to a randomization of anterior-posterior turning of commissural axons, which could be rescued by a FMRP rescue construct. Using RNAscope, we found that some of the FMRP target mRNAs encoding PCP components, PRICKLE2 and Celsr2, as well as regulators of cytoskeletal dynamics and components of cytoskeleton, APC, Cfl1, Map1b, Tubb3 and Actb, are present in the commissural neuron growth cones. Our results suggest that PCP signaling may regulate growth cone guidance, at least in part, by regulating local protein synthesis in the growth cones through via an interaction between Frizzled3 and FMRP.

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28. Marrus N, Botteron KN, Hawks Z, Pruett JR, Elison JT, Jackson JJ, Markson L, Eggebrecht AT, Burrows CA, Zwaigenbaum L, Dager SR, Estes AM, Hazlett HC, Schultz RT, Piven J, Constantino JN. Social motivation in infancy is associated with familial recurrence of ASD. Dev Psychopathol;2022 (Oct 3):1-11.

Pre-diagnostic deficits in social motivation are hypothesized to contribute to autism spectrum disorder (ASD), a heritable neurodevelopmental condition. We evaluated psychometric properties of a social motivation index (SMI) using parent-report item-level data from 597 participants in a prospective cohort of infant siblings at high and low familial risk for ASD. We tested whether lower SMI scores at 6, 12, and 24 months were associated with a 24-month ASD diagnosis and whether social motivation’s course differed relative to familial ASD liability. The SMI displayed good internal consistency and temporal stability. Children diagnosed with ASD displayed lower mean SMI T-scores at all ages and a decrease in mean T-scores across age. Lower group-level 6-month scores corresponded with higher familial ASD liability. Among high-risk infants, strong decline in SMI T-scores was associated with 10-fold odds of diagnosis. Infant social motivation is quantifiable by parental report, differentiates children with versus without later ASD by age 6 months, and tracks with familial ASD liability, consistent with a diagnostic and susceptibility marker of ASD. Early decrements and decline in social motivation indicate increased likelihood of ASD, highlighting social motivation’s importance to risk assessment and clarification of the ontogeny of ASD.

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29. Mathew S, Bichenapally S, Khachatryan V, Muazzam A, Hamal C, Velugoti L, Tabowei G, Gaddipati GN, Mukhtar M, Alzubaidee MJ, Dwarampudi RS, Alfonso M. Role of Serotoninergic Antidepressants in the Development of Autism Spectrum Disorders: A Systematic Review. Cureus;2022 (Aug);14(8):e28505.

Autism spectrum disorders (ASDs) are one of the most common, highly heritable neurodevelopmental diseases affecting 1-2% of children under the age of 3. Although studies have implicated genetic predispositions, environmental risk factors, and maternal depression as the pathophysiology of ASD, it remains unclear. The association between antidepressant (AD) usage during pregnancy and the likelihood of ASD in children is still debatable. We carried out a systematic review to determine the relation of ASD with AD in offspring exposed to ADs in utero. We used the following terms of medical subject heading (MeSH) and keywords separately and in combination: « antidepressants, » « maternal/pregnancy depression, » « autism spectrum disorders/autism, » and « selective serotonin reuptake inhibitors (SSRI). » Our data search was conducted on PubMed, PubMed Central, Google Scholar, and Cochrane, which resulted in 28,141 articles. We identified and eliminated duplicates and then screened 9,965 articles by title and abstract. We then applied eligibility criteria over 143 relevant articles; a quality assessment was performed, and finally we included 18 selected studies. Mothers who had taken ADs during pregnancy for at least two medication prescription cycles and children detected to have ASD from two years to 18 years of age were included. We excluded articles in languages other than English, grey literature, case reports, letters to the editor, books, documents, animal studies, and studies published before 2017. Out of 18 studies, 17 evaluated ASD as the primary outcome, and for one study, the outcome was child behavioral as well as neurodevelopmental changes. Other additional outcomes studied were attention deficit hyperactivity disorder (ADHD), preterm birth, spontaneous abortion, small for gestational age, maternal mental illness, and persistent pulmonary hypertension. After adjusting for confounding factors, in six studies, the higher correlations between ASD and ADs were eliminated. Also, paternal AD use, maternal pre-conceptional AD drug use, and maternal depression itself are additional factors that raise the incidence of ASD.

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30. Muskens J, Klip H, Zinkstok JR, van Dongen-Boomsma M, Staal WG. Vitamin D status in children with a psychiatric diagnosis, autism spectrum disorders, or internalizing disorders. Front Psychiatry;2022;13:958556.

BACKGROUND AND OBJECTIVE: Multiple studies suggest that children with Autism Spectrum Disorders (ASD) have significantly lower vitamin D3 levels than typically developing children. However, whether vitamin D3 deficiency is more common in children with ASD than in children with other psychiatric disorders remains unclear. This study was conducted to explore the prevalence of vitamin D3 in children with a psychiatric diagnosis including children with ASD or with internalizing disorders (mood and anxiety disorders). In addition, this study investigated the potential associations between vitamin D3 and Body Mass Index (BMI). MATERIALS AND METHODS: Clinical data, including BMI and vitamin D3 levels, of 93 children (6-18 years; n = 47; 51% female) with ASD (n = 58) and internalizing disorders (n = 37) were retrospectively analyzed. RESULTS: In the overall sample, the prevalence of vitamin D3 deficiency (<50 nmol/L) was 77.4%. Additionally, 75.9% of the children with ASD and 79.5% with internalizing disorders had vitamin D3 deficiency. BMI was inversely related to vitamin D3 in the total group (p = 0.016). The multiple regression model for the total group significantly predicted vitamin D3 (p = 0.022). Age contributed significantly to the prediction. Stratified for sex and primary diagnosis, multiple regression models showed that for boys with ASD, higher BMI levels were associated with lower vitamin D3 levels (p = 0.031); in boys with internalizing disorders and in girls, no relation was found between BMI and vitamin D3 levels. CONCLUSION: In this this cross-sectional, explorative study high rates of vitamin D3 deficiency in children with different psychiatric disorders were found. The results showed an inverse relation between BMI and vitamin D3 levels in the total group. Vitamin D3 deficiency was particularly common in boys with ASD and obesity. Lifestyle factors may contribute to the association between high BMI and low vitamin D3 levels in boys with ASD. Vitamin D3 deficiency is common in patients with psychiatric disorders and it is highly recommended to increase clinicians' awareness of this common and remediable risk factor.

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31. Namli Z, Tamam L, Demirkol ME, Karaytuğ MO, Sun T. The Relationship Among Autistic Traits, Impulsivity, and Functionality in Patients With Obsessive-Compulsive Disorder. J Nerv Ment Dis;2022 (Oct 3)

Obsessive-compulsive disorder (OCD) is a chronic mental disorder that causes disabilities. This study investigated the relationship among impulsivity, autistic traits, and disabilities in patients with OCD. We included 88 patients with OCD and 90 healthy volunteers without any mental disorders. The participants were evaluated using the Yale-Brown Obsessive-Compulsive Scale, Autism Spectrum Quotient (AQ), Barratt Impulsiveness Scale-11 (BIS-11), and World Health Organization Disability Assessment Schedule (WHODAS 2.0). Regression analyses revealed that AQ-attention switching and BIS-attentional subscale scores were associated with WHODAS-overall score in the OCD group (p = 0.017 and p = 0.034, respectively). In the OCD group, AQ total, social skills, and communication subdomain scores partially mediated the relationship between impulsivity and disability. BIS total, attentional, and nonplanning subscale scores partially mediated the relationship between autistic traits and disability. Developing new treatment strategies for cognitive recovery, in addition to traditional treatment approaches in patients with OCD, may help increase functionality in patients with OCD.

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32. Nielsen TC, Nassar N, Shand AW, Jones HF, Han VX, Patel S, Guastella AJ, Dale RC, Lain SJ. Association of maternal autoimmune disease and early childhood infections with offspring autism spectrum disorder: A population-based cohort study. Autism Res;2022 (Oct 3)

The aim of this study was to examine potential synergistic effects between maternal autoimmune disease and early childhood infections and their association with autism spectrum disorder (ASD) in offspring. Both exposures have been associated with increased risk of ASD in previous studies, but potential synergistic effects remain underexplored. We conducted a population-based cohort study of singleton children born at term gestation (37-41 weeks) in New South Wales, Australia from January 2002 to December 2008. Maternal autoimmune diagnoses and childhood infections before age 2 years were identified from linked maternal and child hospital admissions, and ASD diagnoses by age 9 years were identified from linked disability services data. Multivariable logistic regression assessed the association between each exposure and ASD and additive interaction between exposures, controlling for potential confounders. A total of 18,451 children exposed to maternal autoimmune disease were propensity score matched (1:2) to 36,902 unexposed children. Any maternal autoimmune disease (adjusted odds ratio (aOR) 1.25, 95% confidence interval (CI) 1.07-1.47) and any childhood infection before age 2 years (aOR 1.38, 95% CI 1.15-1.67) were each associated with ASD. However, there was no evidence of additive interaction between the two exposures (relative excess risk due to interaction [RERI] 0.128, 95% CI -0.418-0.675) resulting in increased odds of ASD in offspring. Future studies could examine potential interactions between other sources of maternal immune activation and childhood infection and impact on ASD and other neurodevelopmental disorders. LAY SUMMARY: Inflammation during pregnancy and in early childhood may influence how a child’s brain develops, increasing the risk of autism spectrum disorder (ASD). In this study, we found that having a mother with an autoimmune disease and being admitted to hospital with an infection before age two each increased a child’s odds of ASD. However, children with maternal autoimmune disease and an infection did not experience any additional increase in risk from having both exposures together.

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33. Pang R, Yan S, Tu Y, Qian S, Yu H, Hu X, Wen H, Yuan W, Wang X, Zhou Y. Transient Hearing Abnormalities Precede Social Deficits in A Mouse Model of Autism. Behav Brain Res;2022 (Oct 4):114149.

Hearing abnormalities are important symptoms of autism spectrum disorders (ASDs), a neurological and developmental disorder. However, the characteristics of hearing abnormalities associated with ASD during development have not been fully investigated. We found that in Shank3B knockout mice (a high-confidence mouse model of ASD), transient hearing abnormalities can be found in auditory brainstem response, auditory cortical activity, as well as acoustic startle response. More importantly, all hearing abnormalities at 4 weeks were most prominent and preceded the onset of social deficits at 6 weeks. These hearing abnormalities gradually recovered with age. In addition, analysis of ABR data at 4 weeks using Support Vector Machine (SVM) can faithfully predict the genotype of mice with an accuracy of 85.71%. These findings not only revealed hearing changes in Shank3B knockout autistic-like mice during development, but also suggested that hearing abnormalities could potentially be used as an early and effective indicator of ASD risk.

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34. Paolizzi E, Bertamini G, Bentenuto A, Venuti P. Interpersonal synchrony: Interaction variables and gender differences in preschoolers with ASD. Front Psychiatry;2022;13:1009935.

BACKGROUND: Females with ASD tend to be under-recognized as they might present a different symptom manifestation, better social abilities, and masking behaviors. Since the main limitation of current literature on gender differences is represented by focusing on broad constructs, research needs to prioritize narrower constructs related to the subdomains of social abilities. Hence, the aim of this work was to explore gender differences in Interpersonal Synchrony of children with ASD. METHOD: N = 51 psychologist-child dyads, 25 females and 26 males participated in the study. An Observational Coding Scheme to study interaction features was applied to video-recorded sessions of the ADOS-2 administration. RESULTS: Females presented more synchronous behaviors with shorter latencies. Their interplays were longer, more complex, more engaging and most frequently adequately concluded with respect to males. The complexity of interchanges, their total duration and the proportion of exchanges adequately terminated correlated with the Social Affect score, Personal-Social, and Language Quotients in females, but not in males. The success rate of psychologist proposals correlated with Language Quotient in both males and females. The number of exchanges positively correlated with the Performance Quotient in males. Despite females being significantly older than males, age-related differences did not emerge. CONCLUSIONS: Our findings suggest the importance of studying gender differences with respect to interaction variables. Females may present better IS abilities which, in turn, may promote social and language development. Further, our results suggested that successful interactions seem to rely more on social abilities in females, while males appeared to rely more on performance skills.

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35. Pfender EJ, Wittenberg E, Kerr AM, Goldsmith JV. Family Communication in Autism Spectrum Disorder: Applying the Family Caregiver Communication Typology to Parent Caregivers. Health Commun;2022 (Oct 3):1-11.

Parents of children with Autism Spectrum Disorder (ASD) experience greater stress and caregiver burden than parents of children with other disabilities. To cope with the stress of long-term caregiving, they rely on professionals for support and guidance. However, parents continue to report unmet communication and support needs. To inform tailored communication for parents of a child with ASD, this study used the existing Family Caregiver Communication Typology framework which identifies four caregiver communication types (manager, carrier, partner, and lone) and their unique communication and support needs. In-depth, structured interviews were conducted with parents (n = 22) and ASD professionals (n = 28) to explore communication characteristics of ASD parent caregivers. A thematic analysis revealed communication behaviors among four ASD parent caregiver types, further validating the typology. Future research is needed to develop targeted interventions for improving family-centered care based on ASD parent caregiver types.

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36. Richards Steed R, Bakian AV, Smith KR, Wan N, Brewer S, Medina R, VanDerslice J. Evidence of transgenerational effects on autism spectrum disorder using multigenerational space-time cluster detection. Int J Health Geogr;2022 (Oct 3);21(1):13.

BACKGROUND: Transgenerational epigenetic risks associated with complex health outcomes, such as autism spectrum disorder (ASD), have attracted increasing attention. Transgenerational environmental risk exposures with potential for epigenetic effects can be effectively identified using space-time clustering. Specifically applied to ancestors of individuals with disease outcomes, space-time clustering characterized for vulnerable developmental stages of growth can provide a measure of relative risk for disease outcomes in descendants. OBJECTIVES: (1) Identify space-time clusters of ancestors with a descendent with a clinical ASD diagnosis and matched controls. (2) Identify developmental windows of ancestors with the highest relative risk for ASD in descendants. (3) Identify how the relative risk may vary through the maternal or paternal line. METHODS: Family pedigrees linked to residential locations of ASD cases in Utah have been used to identify space-time clusters of ancestors. Control family pedigrees of none-cases based on age and sex have been matched to cases 2:1. The data have been categorized by maternal or paternal lineage at birth, childhood, and adolescence. A total of 3957 children, both parents, and maternal and paternal grandparents were identified. Bernoulli space-time binomial relative risk (RR) scan statistic was used to identify clusters. Monte Carlo simulation was used for statistical significance testing. RESULTS: Twenty statistically significant clusters were identified. Thirteen increased RR (> 1.0) space-time clusters were identified from the maternal and paternal lines at a p-value < 0.05. The paternal grandparents carry the greatest RR (2.86-2.96) during birth and childhood in the 1950's-1960, which represent the smallest size clusters, and occur in urban areas. Additionally, seven statistically significant clusters with RR < 1 were relatively large in area, covering more rural areas of the state. CONCLUSION: This study has identified statistically significant space-time clusters during critical developmental windows that are associated with ASD risk in descendants. The geographic space and time clusters family pedigrees with over 3 + generations, which we refer to as a person's geographic legacy, is a powerful tool for studying transgenerational effects that may be epigenetic in nature. Our novel use of space-time clustering can be applied to any disease where family pedigree data is available.

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37. Sajib WH, Nahar JS, Algin S, Faruque S, Arafat MY, Sonaullah M. Depressive and Anxiety Disorders among the Parents of Autism in Bangladesh: A Cross-Sectional Study. Mymensingh Med J;2022 (Oct);31(4):1068-1072.

Repeated studies found that the presence of a child with autism spectrum disorder in the family raises the psychological burden among other members, especially parents. This study was conducted to find the burden of depressive and anxiety disorders among the parents of children with Autism. This cross-sectional study was conducted at the department of Psychiatry, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from January 2016 to September 2017. A total of 227 parents of children with Autism attended at above mentioned centers were consecutively included. Data were collected through face to face interview using the questionnaire for socio-demographic variables, SCID-I CV and DASS-21 Bangla. Data were processed and analyzed using SPSS, version 17.0. The mean age of the respondents was 35.5±6.7 years; over half (54.2%) of the respondents were 30-40 years old; 62.1% were female; 37.0% were housewife. The overall 60.35% of care givers had either depressive and or anxiety disorders where 31.7% depressive disorder and 28.6% had anxiety disorders. Major depressive disorder was the most common specific diagnosis and depressive disorders were significantly higher in mother. Of the depressed parents, 11.0% had moderate, 8.4% severe and 6.2% extremely severe depression whereas in terms of anxiety disorders, 9.0% had moderate, 3.1% severe and 1.3% extremely severe anxiety. The study found about 60.0% of the care givers had at least one depressive or anxiety disorders which warrants the need for early psychological assessment as well as early intervention like psychological, familial and social support to improve the quality of life of the parents of Autism Spectrum Disorder children.

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38. Salvador-Garcia C, Valverde-Esteve T, Chiva-Bartoll O, Maravé-Vivas M. Dynamic balance improvement in children with Autism Spectrum Disorder after an extracurricular Service-Learning Physical Education program. Dev Neurorehabil;2022 (Oct 3):1-9.

This study aimed to examine the acute changes in dynamic balance Postural Control experienced by children with Autism Spectrum Disorder (ASD) who undertook a 6-month extracurricular Service-Learning Physical Education (PE) program. The study used a quasi-experimental design with 23 participants divided into an experimental group and a control group. Limits of Stability protocol was used to measure the children’s postural control. The results showed that the experimental group achieved statistically significant improvements. To conclude, this study provides substantial input about how extracurricular PE activities aimed at developing the general motor proficiency of ASD children can improve their dynamic balance.

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39. Shute KL, Kesler WW, Walker EA. Adventitial bursitis of the dorsal foot presenting as soft tissue masses in patients with autism spectrum disorder. Skeletal Radiol;2022 (Oct 4)

Autism spectrum disorder (ASD) is an increasingly common neurodevelopmental disorder associated with impairments in postural control and repetitive patterns of behavior. Here, we describe two cases of adventitial bursitis of the dorsolateral feet in patients with ASD presenting as mass-like lesions. Both patients habitually sat in the W-position and were treated with ultrasound-guided aspirations with immediate relief of symptoms.

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40. Sibille J, Kremkow J, Koch U. Absence of the Fragile X messenger ribonucleoprotein alters response patterns to sounds in the auditory midbrain. Front Neurosci;2022;16:987939.

Among the different autism spectrum disorders, Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Sensory and especially auditory hypersensitivity is a key symptom in patients, which is well mimicked in the Fmr1 -/- mouse model. However, the physiological mechanisms underlying FXS’s acoustic hypersensitivity in particular remain poorly understood. Here, we categorized spike response patterns to pure tones of different frequencies and intensities from neurons in the inferior colliculus (IC), a central integrator in the ascending auditory pathway. Based on this categorization we analyzed differences in response patterns between IC neurons of wild-type (WT) and Fmr1 -/- mice. Our results report broadening of frequency tuning, an increased firing in response to monaural as well as binaural stimuli, an altered balance of excitation-inhibition, and reduced response latencies, all expected features of acoustic hypersensitivity. Furthermore, we noticed that all neuronal response types in Fmr1 -/- mice displayed enhanced offset-rebound activity outside their excitatory frequency response area. These results provide evidence that the loss of Fmr1 not only increases spike responses in IC neurons similar to auditory brainstem neurons, but also changes response patterns such as offset spiking. One can speculate this to be an underlying aspect of the receptive language problems associated with Fragile X syndrome.

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41. Song AY, Bakulski K, Feinberg JI, Newschaffer C, Croen LA, Hertz-Picciotto I, Schmidt RJ, Farzadegan H, Lyall K, Fallin MD, Volk HE, Ladd-Acosta C. Associations between accelerated parental biologic age, autism spectrum disorder, social traits, and developmental and cognitive outcomes in their children. Autism Res;2022 (Oct 3)

Parental age is a known risk factor for autism spectrum disorder (ASD), however, studies to identify the biologic changes underpinning this association are limited. In recent years, « epigenetic clock » algorithms have been developed to estimate biologic age and to evaluate how the epigenetic aging impacts health and disease. In this study, we examined the relationship between parental epigenetic aging and their child’s prospective risk of ASD and autism related quantitative traits in the Early Autism Risk Longitudinal Investigation study. Estimates of epigenetic age were computed using three robust clock algorithms and DNA methylation measures from the Infinium HumanMethylation450k platform for maternal blood and paternal blood specimens collected during pregnancy. Epigenetic age acceleration was defined as the residual of regressing chronological age on epigenetic age while accounting for cell type proportions. Multinomial logistic regression and linear regression models were completed adjusting for potential confounders for both maternal epigenetic age acceleration (n = 163) and paternal epigenetic age acceleration (n = 80). We found accelerated epigenetic aging in mothers estimated by Hannum’s clock was significantly associated with lower cognitive ability and function in offspring at 12 months, as measured by Mullen Scales of Early Learning scores (β = -1.66, 95% CI: -3.28, -0.04 for a one-unit increase). We also observed a marginal association between accelerated maternal epigenetic aging by Horvath’s clock and increased odds of ASD in offspring at 36 months of age (aOR = 1.12, 95% CI: 0.99, 1.26). By contrast, fathers accelerated aging was marginally associated with decreased ASD risk in their offspring (aOR = 0.83, 95% CI: 0.68, 1.01). Our findings suggest epigenetic aging could play a role in parental age risks on child brain development. LAY SUMMARY: Parental age is a risk factor for ASD; however, little is known about possible biologic aging changes that contribute to this association. We found that mothers with faster epigenetic aging and fathers with slower epigenetic aging, relative to their chronologic age, were at increased odds of having a child with ASD and/or decreased early learning, at 3 years of age. These findings suggest epigenetic aging in parents may play a role in neurodevelopment and ASD.

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42. Song C, Wu L, Hong Y, Chen X, Zhu Z. Factors affecting knowledge of autism spectrum disorder among pediatric residents in eastern China: a cross-sectional study. BMC Med Educ;2022 (Oct 3);22(1):699.

BACKGROUND: There is a global increase in the prevalence of autism spectrum disorder (ASD). Early identification of ASD in children and intervention are key aspects in the management of ASD. However, early identification is partly dependent on knowledge on ASD among pediatricians. This study analyzed the extent of ASD knowledge and its underlying factors among pediatric residents in eastern China, to provide a reference for medical education reforms. METHODS: The study employed the Knowledge about Childhood Autism among Health Workers questionnaire. A total of 138 pediatric residents participated in the survey. Descriptive statistics were used to describe demographic characteristics and the four domains of the questionnaire. Univariate analysis was employed to assess impacts of the demographic characteristics on the questionnaire scores. On the other hand, multivariate regression analysis was used to analyze the correlation between the participants’ demographic characteristics and the questionnaire scores. RESULTS: The average ASD cognitive score of 138 respondents was 13.38 ± 4.48. The ASD cognitive scores in female pediatric residents were higher compared to that in males (p < 0.05). Residents who had obtained professional doctor qualification certificate were more than those without professional doctor qualification certificate (p < 0.05). The ASD knowledge in the group which did not have rotation in both departments was lower than in the group which had rotation in both departments (p < 0.05) as well as the group that had rotation in developmental and behavioral pediatrics department only (p < 0.05). Our multivariate linear regression model demonstrated significant statistical differences (p < 0.05), and showed that gender and systematic exposure to ASD knowledge had significant effects on cognitive scores (p < 0.05). CONCLUSION: Most participants had relatively low levels of awareness and knowledge about ASD, especially on ASD comorbidities and age of onset. Women, systematic learning of ASD knowledge in medical school, successful passing of the physician examination, and rotation in the developmental and behavioral pediatrics (DBP) department significantly influence the levels of ASD awareness and knowledge. It is, therefore, important to strengthen ASD education in medical students at the university level and make rotation in the DBP department a requisite for pediatric trainees.

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43. Sun H, He Q, Qi S, Yao Y, Teng Y. Improving the level of autism discrimination with augmented data by GraphRNN. Comput Biol Med;2022 (Sep 22);150:106141.

Datasets are the key to deep learning in autism disease research. However, due to the small quantity and heterogeneity of samples in current public datasets, for example Autism Brain Imaging Data Exchange (ABIDE), the recognition research is not sufficiently effective. Previous studies primarily focused on optimizing feature selection methods and data augmentation to improve recognition accuracy. This research is based on the latter, which learns the edge distribution of a real brain network through the graph recurrent neural network (GraphRNN) and generates synthetic data that have an incentive effect on the discriminant model. Experimental results show that the synthetic data greatly improves the classification ability of the subsequent classifiers, for example, it can improve the classification accuracy of a 50-layer ResNet by up to 30% compared with the case without synthetic data.

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44. Tesfaye R, Huguet G, Schmilovich Z, Renne T, Loum MA, Douard E, Saci Z, Jean-Louis M, Martineau JL, Whelan R, Desrivieres S, Heinz A, Schumann G, Hayward C, Elsabbagh M, Jacquemont S. Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances. Transl Psychiatry;2022 (Oct 3);12(1):424.

Sleep disturbance is prevalent in youth with Autism Spectrum Disorder (ASD). Researchers have posited that circadian dysfunction may contribute to sleep problems or exacerbate ASD symptomatology. However, there is limited genetic evidence of this. It is also unclear how insomnia risk genes identified through GWAS in general populations are related to ASD and common sleep problems like insomnia traits in ASD. We investigated the contribution of copy number variants (CNVs) encompassing circadian pathway genes and insomnia risk genes to ASD risk as well as sleep disturbances in children with ASD. We studied 5860 ASD probands and 2092 unaffected siblings from the Simons Simplex Collection (SSC) and MSSNG database, as well as 7509 individuals from two unselected populations (IMAGEN and Generation Scotland). Sleep duration and insomnia symptoms were parent reported for SSC probands. We identified 335 and 616 rare CNVs encompassing circadian and insomnia risk genes respectively. Deletions and duplications with circadian genes were overrepresented in ASD probands compared to siblings and unselected controls. For insomnia-risk genes, deletions (not duplications) were associated with ASD in both cohorts. Results remained significant after adjusting for cognitive ability. CNVs containing circadian pathway and insomnia risk genes showed a stronger association with ASD, compared to CNVs containing other genes. Circadian genes did not influence sleep duration or insomnia traits in ASD. Insomnia risk genes intolerant to haploinsufficiency increased risk for insomnia when duplicated. CNVs encompassing circadian and insomnia risk genes increase ASD liability with little to no observable impacts on sleep disturbances.

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45. Tosin MHS, Stebbins GT, Goetz CG, Hagerman RJ, Hessl D, Zolecki MA, Todd PK, Leehey MA, Hall DA. Fragile X-associated tremor ataxia syndrome rating scale: Revision and content validity using a mixed method approach. Front Neurol;2022;13:977380.

BACKGROUND: The original Fragile X-associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS) contained 61 items, some requiring modifications to better meet recommendations for patient-focused rating scale development. PURPOSE: Provide initial validation of a revised version of the FXTAS-RS for motor signs. METHOD: We conducted a two-phase mixed-method approach. In Phase 1, revision, we implemented a Delphi technique identifying pertinent domains/subdomains and developing items through expert consensus. In Phase 2, content validation, we conducted cognitive pretesting assessing comprehensibility, comprehensiveness, and relevance of items to FXTAS motor signs. RESULTS: After five rounds of Delphi panel and two rounds of cognitive pretesting, the revised version of the FXTAS-RS was established with 18 items covering five domains and 13 subdomains of motor signs. Cognitive pretesting revealed adequate content validity for the assessment of FXTAS motor signs. CONCLUSION: The revised FXTAS-RS has been successfully validated for content and it is now ready for large-scale field validation.

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46. Underwood JFG, DelPozo-Banos M, Frizzati A, Rai D, John A, Hall J. Neurological and psychiatric disorders among autistic adults: a population healthcare record study. Psychol Med;2022 (Oct 3):1-11.

BACKGROUND: Co-occurring psychiatric disorders are common in autism, with previous studies suggesting 54-94% of autistic individuals develop a mental health condition in their lifetime. Most studies have looked at clinically-recruited cohorts, or paediatric cohorts followed into adulthood, with less known about the autistic community at a population level. We therefore studied the prevalence of co-occurring psychiatric and neurological conditions in autistic individuals in a national sample. METHODS: This retrospective case-control study utilised the SAIL Databank to examine anonymised whole population electronic health record data from 2001 to 2016 in Wales, UK (N = 3.6 million). We investigated the prevalence of co-occurring psychiatric and selected neurological diagnoses in autistic adults’ records during the study period using International Classification of Diseases-10 and Read v2 clinical codes compared to general population controls matched for age, sex and deprivation. RESULTS: All psychiatric conditions examined were more common amongst adults with autism after adjusting for age, sex and deprivation. Prevalence of attention-deficit hyperactivity disorder (7.00%), bipolar disorder (2.50%), obsessive-compulsive disorder (3.02%), psychosis (18.30%) and schizophrenia (5.20%) were markedly elevated in those with autism, with corresponding odds ratios 8.24-10.74 times the general population. Depression (25.90%) and anxiety (22.40%) were also more prevalent, with epilepsy 9.21 times more common in autism. CONCLUSIONS: We found that a range of psychiatric conditions were more frequently recorded in autistic individuals. We add to understanding of under-reporting and diagnostic overshadowing in autism. With increasing awareness of autism, services should be cognisant of the psychiatric conditions that frequently co-occur in this population.

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47. Xing M, Zhang Q, Song W. GIGYF1-disturbed IGF-1R recycling: a potential contributor to autism spectrum disorder pathogenesis?. J Clin Invest;2022 (Oct 3);132(19)

Autism spectrum disorder (ASD) is a highly variable and heritable neurodevelopmental disease (NDD) with strong genetic underpinnings. In this issue of the JCI, Chen et al. analyzed 2 previously reported, large-scale sequenced ASD cohorts and reported that GIGYF1 is the second most mutated among ASD risk genes. In this issue of the JCI, Chen et al. used a conditional mouse model combined with molecular technologies based on human genetic analyses to determine the critical role of GIGYF1 in ASD. GIGYF1-deficiency affected the recycling of IGF-1R, thereby suppressing the IGF-1R/ERK signaling pathway. Disruption of GIGYF1 in the developing mouse brain led to social deficits and cognitive impairments. These findings extend our understanding of ASD pathogenesis and provide an avenue for developing potentially effective preventions and treatments for patients with ASD.

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48. Yun M, Kim E, Jung MW. Enhanced fear limits behavioral flexibility in Shank2-deficient mice. Mol Autism;2022 (Oct 3);13(1):40.

BACKGROUND: A core symptom of autism spectrum disorder (ASD) is repetitive and restrictive patterns of behavior. Cognitive inflexibility has been proposed as a potential basis for these symptoms of ASD. More generally, behavioral inflexibility has been proposed to underlie repetitive and restrictive behavior in ASD. Here, we investigated whether and how behavioral flexibility is compromised in a widely used animal model of ASD. METHODS: We compared the behavioral performance of Shank2-knockout mice and wild-type littermates in reversal learning employing a probabilistic classical trace conditioning paradigm. A conditioned stimulus (odor) was paired with an unconditioned appetitive (water, 6 µl) or aversive (air puff) stimulus in a probabilistic manner. We also compared air puff-induced eye closure responses of Shank2-knockout and wild-type mice. RESULTS: Male, but not female, Shank2-knockout mice showed impaired reversal learning when the expected outcomes consisted of a water reward and a strong air puff. Moreover, male, but not female, Shank2-knockout mice showed stronger anticipatory eye closure responses to the air puff compared to wild-type littermates, raising the possibility that the impairment might reflect enhanced fear. In support of this contention, male Shank2-knockout mice showed intact reversal learning when the strong air puff was replaced with a mild air puff and when the expected outcomes consisted of only rewards. LIMITATIONS: We examined behavioral flexibility in one behavioral task (reversal learning in a probabilistic classical trace conditioning paradigm) using one ASD mouse model (Shank2-knockout mice). Thus, future work is needed to clarify the extent to which our findings (that enhanced fear limits behavioral flexibility in ASD) can explain the behavioral inflexibility associated with ASD. Also, we examined only the relationship between fear and behavioral flexibility, leaving open the question of whether abnormalities in processes other than fear contribute to behavioral inflexibility in ASD. Finally, the neurobiological mechanisms linking Shank2-knockout and enhanced fear remain to be elucidated. CONCLUSIONS: Our results indicate that enhanced fear suppresses reversal learning in the presence of an intact capability to learn cue-outcome contingency changes in Shank2-knockout mice. Our findings suggest that behavioral flexibility might be seriously limited by abnormal emotional responses in ASD.

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49. Zhang F, Moerman F, Niu H, Warreyn P, Roeyers H. Atypical brain network development of infants at elevated likelihood for autism spectrum disorder during the first year of life. Autism Res;2022 (Oct 4)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by behavioral features that appear early in life. Although studies have shown that atypical brain functional and structural connectivity are associated with these behavioral traits, the occurrence and initial alterations of brain networks have not been fully investigated. The current study aimed to map early brain network efficiency and information transferring in infants at elevated likelihood (EL) compared to infants at typical likelihood (TL) for ASD in the first year of life. This study used a resting-state functional near-infrared spectroscopy (fNIRS) approach to obtain the length and strength of functional connections in the frontal and temporal areas in 45 5-month-old and 38 10-month-old infants. Modular organization and small-world properties were detected in both EL and TL infants at 5 and 10 months. In 5-month-old EL infants, local and nodal efficiency were significantly greater than age-matched TL infants, indicating overgrown local connections. Furthermore, we used a support vector machine (SVM) model to classify infants with or without EL based on the obtained global properties of the network, achieving an accuracy of 77.6%. These results suggest that infants with EL for ASD exhibit inefficiencies in the organization of brain networks during the first year of life. LAY SUMMARY: The brain networks of 5- and 10-month-old infants are able to support efficient communication of information in the brain. Neural networks of 5-month-old with an elevated likelihood (EL) for autism spectrum disorder (ASD) show an overgrowth in local functional connection, which may not support efficient communication between distant brain regions, while we found no such differences in 10-month-old infants with or without EL for ASD.

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