1. Alsaman MA, Abd El-Naiem HN. Stress in Egyptian parents of children with developmental disabilities. The moderating effect of social support. Research in developmental disabilities. 2021; 117: 104045.

BACKGROUND: Research shows that parents of children with developmental disabilities (DDs) are at increased risk for elevated stress. Child adaptive functioning as well as social supports are key factors influencing stress in parents. However, few studies have examined the interaction between these variables and their contribution to perceived stress especially in Egyptian parents. AIMS: The present study investigated the relationship between parenting stress, child adaptive functioning, and social supports. It also examined the moderating role of social support in the relationship between child adaptive functioning and stress in Egyptian parents of children with DDs. METHOD: Sixty-four Egyptian parents of children with DDs completed assessment measures of parenting stress, child adaptive functioning, and social supports. RESULTS: Parenting stress was negatively associated with child adaptive functioning and informal social supports. However, there was no association between parenting stress and formal social supports. In addition, level of informal social support had a moderating effect on the relationship between child adaptive functioning and level of parenting stress. CONCLUSIONS: The findings highlight the importance of interventions that reduce child-related stressors, particularly low adaptive functioning. Programs that address parenting stress and promote effective informal and formal social supports are crucial to help parents cope with stress.

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2. Arioli M, Cattaneo Z, Ricciardi E, Canessa N. Overlapping and specific neural correlates for empathizing, affective mentalizing, and cognitive mentalizing: A coordinate-based meta-analytic study. Human brain mapping. 2021; 42(14): 4777-804.

While the discussion on the foundations of social understanding mainly revolves around the notions of empathy, affective mentalizing, and cognitive mentalizing, their degree of overlap versus specificity is still unclear. We took a meta-analytic approach to unveil the neural bases of cognitive mentalizing, affective mentalizing, and empathy, both in healthy individuals and pathological conditions characterized by social deficits such as schizophrenia and autism. We observed partially overlapping networks for cognitive and affective mentalizing in the medial prefrontal, posterior cingulate, and lateral temporal cortex, while empathy mainly engaged fronto-insular, somatosensory, and anterior cingulate cortex. Adjacent process-specific regions in the posterior lateral temporal, ventrolateral, and dorsomedial prefrontal cortex might underpin a transition from abstract representations of cognitive mental states detached from sensory facets to emotionally-charged representations of affective mental states. Altered mentalizing-related activity involved distinct sectors of the posterior lateral temporal cortex in schizophrenia and autism, while only the latter group displayed abnormal empathy related activity in the amygdala. These data might inform the design of rehabilitative treatments for social cognitive deficits.

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3. Bayat A, Bayat M, Broers C, Polstra AM, Zwijnenburg PJG, Hjortshøj TD. 5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome. American journal of medical genetics Part A. 2021; 185(12): 3844-50.

Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects present with learning difficulty and/or intellectual disability, immune deficiency, congenital heart malformation, and dysmorphism. DHX29 and IL6ST have been proposed as candidate genes for the development of the major clinical manifestations. We present a new case and narrow down the shortest region of overlap to evaluate possible candidate genes. Our case does not present developmental delay or immune deficiency indicating a reduced penetrance for some of the main clinical manifestations. The shortest region of overlap between subjects with deletions at 5q11.2 is approximately 450 kb (position 54.3-54.7 Mb). The narrowed region comprises 10 protein coding genes, including DHX29. DHX29 is a strong candidate gene for the main features of 5q11.2-microdeletion syndrome; however, our findings suggest a joined impact of several genes as the cause of the syndrome.

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4. Cheng S, Yang Y, Deng M. Psychological Stress and Perceived School Success Among Parents of Children with Developmental Disabilities During the COVID-19 Pandemic. Journal of autism and developmental disorders. 2021: 1-8.

This study mainly explored psychological stress caused by the COVID-19 among parents in developmental disabilities and how it was related to parents’ views of school success in mainland China. The Psychological Stress Questionnaire and Views of Social and Academic Success were administered to 1919 parents of children with developmental disabilities. Results showed that parent characteristics including gender, age, educational level, family income and job nature and children characteristics (i.e., disability types) were related to psychological stress caused by the COVID-19, and that psychological stress caused by the COVID-19 significantly negatively predicted parents’ views of school success. The contributions, limitations, and implications of the present research are discussed.

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5. Fletcher-Watson S, Bölte S, Crompton CJ, Jones D, Lai MC, Mandy W, Pellicano L, Stahmer A, Taylor J, Mandell D. Publishing standards for promoting excellence in autism research. Autism : the international journal of research and practice. 2021; 25(6): 1501-4.

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6. Hampton LH, Sandbank MP. Keeping up with the evidence base: Survey of behavior professionals about Naturalistic Developmental Behavioral Interventions. Autism : the international journal of research and practice. 2022; 26(4): 875-88.

Primary service providers for young children on the autism spectrum and developmentally delayed children use many strategies under the umbrella of applied behavior analysis therapy. The evidence supporting interventions for children on the autism spectrum has changed last decade, and powerful research supports the relative effectiveness of Naturalistic Developmental Behavior Interventions, yet a few professionals serving young children on the autism spectrum receive training in this category of interventions. Board Certified Behavior Analysts and related professionals are the primary service providers for this population. The purpose of this survey study is to describe and understand the knowledge and beliefs that Behavior Analyst Certification Board certificants have around Naturalistic Developmental Behavior Interventions. The survey was completed by 901 respondents. Respondents indicated, on average, little to no knowledge of Naturalistic Developmental Behavior Intervention practices and few believe that these practices are effective or appropriate for the field. Recommendations include increasing training opportunities for related professionals, and changing certification requirements to match the current evidence.

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7. Holzinger D, Weber C, Bölte S, Fellinger J, Hofer J. Assessment of Autism Spectrum Disorder in Deaf Adults with Intellectual Disability: Feasibility and Psychometric Properties of an Adapted Version of the Autism Diagnostic Observation Schedule (ADOS-2). Journal of autism and developmental disorders. 2021.

This study describes the adaptation of the autism diagnostic observation schedule (ADOS-2) to assess autism spectrum disorder (ASD) in adults with intellectual disability (ID) and hearing loss who communicate primarily visually. This adapted ADOS-2 was applied to residents of specialized therapeutic living communities (n = 56). The internal consistency of the adapted ADOS-2 was excellent for the Social Affect of modules 2 and 3 and acceptable for Restricted and Repetitive Behaviors subscale of module 2, but poor for module 3. Interrater reliability was comparable to standard ADOS-2 modules 1-3. Results suggest that autism symptoms of deaf adults with ID can be reliably identified by an adapted ADOS-2, provided adequate expertise in deafness, ID, ASD and proficiency in signed language by the administrator.

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8. Ibrahim A, Papin C, Mohideen-Abdul K, Le Gras S, Stoll I, Bronner C, Dimitrov S, Klaholz BP, Hamiche A. MeCP2 is a microsatellite binding protein that protects CA repeats from nucleosome invasion. Science (New York, NY). 2021; 372(6549).

The Rett syndrome protein MeCP2 was described as a methyl-CpG-binding protein, but its exact function remains unknown. Here we show that mouse MeCP2 is a microsatellite binding protein that specifically recognizes hydroxymethylated CA repeats. Depletion of MeCP2 alters chromatin organization of CA repeats and lamina-associated domains and results in nucleosome accumulation on CA repeats and genome-wide transcriptional dysregulation. The structure of MeCP2 in complex with a hydroxymethylated CA repeat reveals a characteristic DNA shape, with considerably modified geometry at the 5-hydroxymethylcytosine, which is recognized specifically by Arg(133), a key residue whose mutation causes Rett syndrome. Our work identifies MeCP2 as a microsatellite DNA binding protein that targets the 5hmC-modified CA-rich strand and maintains genome regions nucleosome-free, suggesting a role for MeCP2 dysfunction in Rett syndrome.

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9. Kervin R, Berger C, Moon SJ, Hill H, Park D, Kim JW. Behavioral addiction and autism spectrum disorder: A systematic review. Research in developmental disabilities. 2021; 117: 104033.

BACKGROUND: According to DSM-5 criteria, Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficiencies in social communication and interaction along with the presence of restrictive and repetitive patterns of behavior. Few studies have explored the prevalence of behavioral addiction in individuals with ASD. Since addiction and ASD share common characteristics, individuals with ASD may be more vulnerable to addictive behaviors. Some typical behavioral addictions include internet, gaming, and gambling addiction. While most previous studies on ASD and addiction have looked at chemical addiction, behavioral addiction has not been thoroughly studied to date. AIMS: The objective of this study was to investigate the presence of behavioral addiction among individuals diagnosed with autism spectrum disorder. METHODS AND PROCEDURES: A systematic literature search of five databases was conducted in accordance with the PRISMA guidelines. Search results were reviewed for the predetermined inclusion criteria independently by two authors. OUTCOMES AND RESULTS: The search yielded 539 publications after the removal of duplicates. 61 met the inclusion criteria for title and abstract review. Full texts were reviewed resulting in an additional 31 being removed. The remaining 30 included 4 case reports and 26 original studies. Results included 27 studies that found a positive correlation (15 of significance, 12 of unknown significance) between a behavioral addiction and either ASD or Autistic traits, 1 found a significant negative correlation, 3 did not find a correlation. CONCLUSIONS AND IMPLICATIONS: This review is inconclusive about links between ASD and behavioral addictions. While a vast majority of studies show a positive correlation, many do not provide the statistical analysis to show if the correlations are significant. In addition, a positive correlation between ASD and behavioral addiction is observed in the presence of comorbid mental health conditions in many of the studies. Further research with proper controls and statistical analysis is needed to determine whether the development of behavioral addiction is directly influenced by ASD or if the presence of a comorbid mental health condition is the true cause.

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10. Kight KE, Argue KJ, Bumgardner JG, Bardhi K, Waddell J, McCarthy MM. Social behavior in prepubertal neurexin 1α deficient rats: A model of neurodevelopmental disorders. Behavioral neuroscience. 2021; 135(6): 782-803.

Loss-of-function mutations in the synaptic protein neurexin1α (NRXN1α) are associated with several neurodevelopmental disorders, including autism spectrum disorder (ASD), schizophrenia, and attention-deficit hyperactivity disorder (ADHD), and many of these disorders are defined by core deficits in social cognition. Mouse models of Nrxn1α deficiency are not amenable to studying aspects of social cognition because, in general, mice do not engage in complex social interactions such as social play or prosocial helping behaviors. Rats, on the contrary, engage in these complex, well-characterized social behaviors. Using the Nrxn1tm1Sage Sprague Dawley rat, we tested a range of cognitive and social behaviors in juveniles with haplo- or biallelic Nrxn1α mutation. We found a deficit in ultrasonic vocalizations (USVs) of male and female neonatal rats with Nrxn1α deficiency. A male-specific deficit in social play was observed in Nrxn1α-deficient juveniles, although sociability and social discrimination were unaltered. Nurturing behavior induced by exposure to pups was enhanced in male and female juveniles with biallelic Nrxn1α mutation. Performance in tasks of prosocial helping behavior and food retrieval indicated severe deficits in learning and cognition in juveniles with biallelic Nrxn1α mutation, and a less severe deficit in haploinsufficient rats, although Pavlovian learning was altered only in haploinsufficient males. We also observed a male-specific increase in mobility and object investigation in juveniles with complete Nrxn1α deficiency. Together, these observations more fully characterize the Nrxn1tm1Sage Sprague Dawley rat as a model for Nrxn1α-related neurodevelopmental disorders, and support a rationale for the juvenile rat as a more appropriate model for disorders that involve core deficits in complex social behaviors. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

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11. Kildahl AN, Helverschou SB, Rysstad AL, Wigaard E, Hellerud JM, Ludvigsen LB, Howlin P. Pathological demand avoidance in children and adolescents: A systematic review. Autism : the international journal of research and practice. 2021; 25(8): 2162-76.

Requests for diagnoses of pathological demand avoidance have increased over recent years, but pathological demand avoidance remains a controversial issue. The concept of pathological demand avoidance has been criticised for undermining the self-advocacy of autistic people and neglecting the potential role of anxiety as a possible underlying or contributing cause. The current study was undertaken to summarise and review the methodological quality and findings from current research into pathological demand avoidance in children and adolescents. Further aims were to describe how pathological demand avoidance has been identified and to explore the relationships with autism and other developmental and psychiatric disorders. After a comprehensive search, 13 relevant studies using a wide range of methods were identified and systematic quality assessments were undertaken. All the studies had based the identification of pathological demand avoidance, directly or indirectly, on descriptions from the original study by Newson and colleagues. However, the methods used to develop these criteria were not clearly described. Most studies relied exclusively on parental report for data, and there was a general failure to take account of alternative explanations for the behaviours under study. No studies explored the views of individuals with pathological demand avoidance themselves. Problems concerning definition and measurement in the reviewed studies currently limit any conclusions regarding the uniformity or stability of the behaviours described, or the characteristics of individuals displaying them. Relationships between pathological demand avoidance and other emotional and behavioural difficulties should be explored in future research, as should the perspectives of individuals with pathological demand avoidance themselves.

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12. Marriott E, Stacey J, Hewitt OM, Verkuijl NE. Parenting an Autistic Child: Experiences of Parents with Significant Autistic Traits. Journal of autism and developmental disorders. 2021.

Despite autism being highly heritable, this study is the first to investigate the experiences of parents of autistic children who have significant autistic traits themselves. Eight parents of autistic children with significant autistic traits themselves were interviewed regarding their parenting experiences. In line with what has previously been reported by parents of autistic children, participants described difficulties with parental mental health and navigating professional services. Novel participant experiences included the interaction between parental and child autistic traits helping and hindering their parenting; parents learning to manage their own autistic traits, and parents finding the home to be an accepting place of autism. The need for adequately funded, tailored and accessible services for these families is emphasised.

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13. Martin EM, Zhu Y, Kraan CM, Kumar KR, Godler DE, Field M. Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS). Journal of medical genetics. 2021.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset condition characterised by cerebellar ataxia and intention tremor, usually found in individuals with FMR1 premutation alleles (PM-CGG expansion of 55-199 repeats). Population studies estimate that between 1 in 250 and 1 in 1600 men have a PM, with up to 45% of these men suggested to develop FXTAS by age 80. We used a Bayesian approach to compare the probability of finding a specific PM genotype in an ataxia population to a population control group and found an estimated penetrance of <1% (0.031%; CI 0.007% to 0.141%) for men with ≤70 CGGs. These findings suggest that men with a PM of ≤70 CGGs, who comprise the vast majority of those with a PM, have a much lower risk of being affected with FXTAS than previously suggested. This is an issue of growing importance for accurate genetic counselling, as those with a PM of ≤70 CGGs are increasingly detected through community carrier screening or neurodevelopmental assessment programmes.

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14. Schalock RL, Luckasson R. Enhancing research practices in intellectual and developmental disabilities through person-centered outcome evaluation. Research in developmental disabilities. 2021; 117: 104043.

BACKGROUND: Research practices in IDD need to align current values towards people with IDD, the current understanding of IDD, and best practices regarding change strategies and valued outcomes. AIMS: To describe the components to-and application of-a person-centered outcome evaluation model that meets the above criteria. METHODS AND PROCEDURES: A person-centered evaluation logic model is used to identify and describe a conceptual framework (input), a change strategy (throughput), personal outcomes (outcome), and meaningful impacts (output). OUTCOMES AND RESULTS: Specific person-centered outcomes and exemplary outcome indicators are presented for two outcome evaluation frameworks: human functioning dimensions, and the four theoretical perspectives on IDD: biomedical, psychoeducational, sociocultural, and justice. CONCLUSIONS AND IMPLICATIONS: A person-centered approach to outcome evaluation enhances research practices in IDD by identifying and assessing valued personal outcomes that align current values, understanding, and best practices; increases transparency; facilitates accountability; and expands understanding.

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15. Snow SL, Smith IM, Latimer M, Stirling Cameron E, Fox J, Chorney J. A balancing act: An interpretive description of healthcare providers’ and families’ perspective on the surgical experiences of children with autism spectrum disorder. Autism : the international journal of research and practice. 2022; 26(4): 839-48.

Children with an autism spectrum disorder (autism) often have negative experiences within the surgical setting. We conducted individual interviews with 8 parents of children with autism who had recently undergone surgery, and 15 healthcare providers (HCPs) with experience caring for children with autism. We asked open-ended questions on the approaches used to support children with autism around the time of surgery, how effective they were, suggestions for improvement, and the barriers and facilitators to improvement. Three main themes emerged within an overarching metaphor of a balancing act. The first theme, finding your footing through an uncertain journey, described individual factors (e.g. anticipatory anxiety) that set the foundation for experiences. The second theme, relationships can help to keep everyone steady, highlighted how personal interactions (e.g. collaboration and empathy) influence the experience. Finally, the systems shape the experience theme captured how systemic factors (e.g. the hospital environment) affected the balancing act. These findings enriched our understanding of the surgical experiences of children with autism, families, and HCPs by demonstrating the importance of individual characteristics, relationships, and systemic factors. Future interventions should consider this complexity and intervene not just with children, but also their parents, healthcare providers, and in policy to improve experiences.

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16. Valori I, McKenna-Plumley PE, Bayramova R, Farroni T. Perception and Motion in Real and Virtual Environments: A Narrative Review of Autism Spectrum Disorders. Frontiers in psychology. 2021; 12: 708229.

Atypical sensorimotor developmental trajectories greatly contribute to the profound heterogeneity that characterizes Autism Spectrum Disorders (ASD). Individuals with ASD manifest deviations in sensorimotor processing with early markers in the use of sensory information coming from both the external world and the body, as well as motor difficulties. The cascading effect of these impairments on the later development of higher-order abilities (e.g., executive functions and social communication) underlines the need for interventions that focus on the remediation of sensorimotor integration skills. One of the promising technologies for such stimulation is Immersive Virtual Reality (IVR). In particular, head-mounted displays (HMDs) have unique features that fully immerse the user in virtual realities which disintegrate and otherwise manipulate multimodal information. The contribution of each individual sensory input and of multisensory integration to perception and motion can be evaluated and addressed according to a user’s clinical needs. HMDs can therefore be used to create virtual environments aimed at improving people’s sensorimotor functioning, with strong potential for individualization for users. Here we provide a narrative review of the sensorimotor atypicalities evidenced by children and adults with ASD, alongside some specific relevant features of IVR technology. We discuss how individuals with ASD may interact differently with IVR versus real environments on the basis of their specific atypical sensorimotor profiles and describe the unique potential of HMD-delivered immersive virtual environments to this end.

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17. Yao L, Fu H, Bai L, Deng W, Xie F, Li Y, Zhang R, Xu X, Wang T, Lai S, Wang J. Saliva nitrite is higher in male children with autism spectrum disorder and positively correlated with serum nitrate. Redox report : communications in free radical research. 2021; 26(1): 124-33.

OBJECTIVES: Nitric oxide (NO) plays a vital role in neurological development. As an easily accessible and non-invasive fluid, saliva hasn’t been evaluated for nitrite among children with autism spectrum disorder (ASD). This study aims to quantify saliva nitrite and explore its relation with serum NO. METHODS: Saliva sampling and pretreatment methods were optimized, followed by NO measurement via chemiluminescence for 126 ASD children and 129 normally developing children (ND). RESULTS: In the ASD group, saliva nitrite was significantly higher than that in the ND, with concentrations of 4.97 ± 3.77 μM and 2.66 ± 2.07 μM (p < 0.0001), respectively. Positive correlation was observed between saliva NO(2)(-) and serum NO(3)(-) in ASD children, which didn't exist in the ND group. Male children in the ASD group had significantly higher NO than that in boys of the ND group, without significant difference between girls in both groups. Correlation was not found between saliva or serum NO and severity of these ASD children. DISCUSSION: It is reported for the first time that saliva nitrite was positively correlated with serum nitrate in ASD children, with significantly higher NO only in autistic boys. Non-invasive saliva might serve as a predictor of health status of ASD children.

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18. Zeng W, Magaña S, Lopez K, Xu Y, Marroquín JM. Revisiting an RCT study of a parent education program for Latinx parents in the United States: Are treatment effects maintained over time?. Autism : the international journal of research and practice. 2022; 26(2): 499-512.

Background: We conducted a follow-up investigation of a two-site randomized controlled trial in the United States. We examined whether the treatment effects in a culturally tailored parent education program for Latinx families of children with autism spectrum disorder were maintained over time.Methods: Using linear mixed models, we compared differences in parent and child outcomes across three timepoints: baseline, 4 months after baseline (Time 2), and 8 months after baseline (T3). Parent outcomes included family empowerment, self-reported confidence in, and frequency of using evidence-based strategies. Child outcomes included parent-reported challenging behaviors, social communication impairments, and the number of services received. Participants were 109 Latina mothers (intervention = 54, control = 55) of children with autism spectrum disorder.Results: After intervention at both Time 2 and Time 3 in both sites, mothers in the intervention groups reported significantly greater confidence in and frequency of using evidence-based strategies, and that their child received significantly more services. We also found that there were treatment differences across the two study sites in several outcomes.Implications: The intervention for Latinx parents of children with autism spectrum disorder was efficacious and could be maintained, and that site-specific policy and service differences may need to be examined in future research to inform dissemination and implementation.

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