1. Anashkina AA, Erlykina EI. Molecular Mechanisms of Aberrant Neuroplasticity in Autism Spectrum Disorders (Review). Sovremennye tekhnologii v meditsine. 2021; 13(1): 78-91.

This review presents the analysis and systematization of modern data on the molecular mechanisms of autism spectrum disorders (ASD) development. Polyetiology and the multifactorial nature of ASD have been proved. The attempt has been made to jointly review and systematize current hypotheses of ASD pathogenesis at the molecular level from the standpoint of aberrant brain plasticity. The mechanism of glutamate excitotoxicity formation, the effect of imbalance of neuroactive amino acids and their derivatives, neurotransmitters, and hormones on the ASD formation have been considered in detail. The strengths and weaknesses of the proposed hypotheses have been analyzed from the standpoint of evidence-based medicine. The conclusion has been drawn on the leading role of glutamate excitotoxicity as a biochemical mechanism of aberrant neuroplasticity accompanied by oxidative stress and mitochondrial dysfunction. The mechanism of aberrant neuroplasticity has also been traced at the critical moments of the nervous system development taking into account the influence of various factors of the internal and external environment. New approaches to searching for ASD molecular markers have been considered.

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2. Anvekar P, Lohana P, Elmahal M, Ali SR. The Curious Case of Lennox-Gastaut Syndrome: Treatment-Resistant Seizures in a Patient With Autism Spectrum Disease With Lennox-Gastaut Syndrome. Cureus. 2021; 13(7): e16784.

Lennox-Gastaut syndrome (LGS) is a childhood epilepsy disorder seen between the ages of one to eight years with the electroencephalogram (EEG) changes showing slow spiked-wave complex bursts or paroxysms of generalized fast activity and intellectual disability and often needing multiple lines of treatment. Autism spectrum disease (ASD) is rare but catastrophic comorbidity seen in a patient with LGS. We report an eight-year-old boy presenting to the emergency department with seizures and mental retardation. His first seizure was at the age of five months but was symptomatically treated without any specific diagnosis. On further investigation, the patient was diagnosed with LGS with concomitant ASD. The patient has successfully been treated for his treatment-resistant seizures and is now on regular follow-ups. This article aims to highlight this rare combination of LGS along with ASD and understand the disease course.

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3. Barney CC, Andersen RD, Defrin R, Genik LM, McGuire BE, Symons FJ. [Challenges in pain assessment and management among individuals with intellectual and developmental disabilities : German version]. Schmerz (Berlin, Germany). 2022; 36(1): 49-58.

INTRODUCTION: Intellectual and developmental disabilities (IDD) include conditions associated with physical, learning, language, behavioural, and/or intellectual impairment. Pain is a common and debilitating secondary condition compromising functional abilities and quality of life. OBJECTIVES: This article addresses scientific and clinical challenges in pain assessment and management in individuals with severe IDD. METHODS: This Clinical Update aligns with the 2019 IASP Global Year Against Pain in the Vulnerable and selectively reviews recurring issues as well as the best available evidence and practice. RESULTS: The past decade of pain research has involved the development of standardized assessment tools appropriate for individuals with severe IDD; however, there is little empirical evidence that pain is being better assessed or managed clinically. There is limited evidence available to inform effective pain management practices; therefore, treatment approaches are largely empiric and highly variable. This is problematic because individuals with IDD are at risk of developing drug-related side effects, and treatment approaches effective for other populations may exacerbate pain in IDD populations. Scientifically, we are especially challenged by biases in self-reported and proxy-reported pain scores, identifying valid outcome measures for treatment trials, being able to adequately power studies due to small sample sizes, and our inability to easily explore the underlying pain mechanisms due to compromised ability to self-report. CONCLUSION: Despite the critical challenges, new developments in research and knowledge translation activities in pain and IDD continue to emerge, and there are ongoing international collaborations.

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4. Clarke EB, Sterrett K, Lord C. Work and well-being: Vocational activity trajectories in young adults with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2021; 14(12): 2613-24.

Young adults with autism spectrum disorder (ASD) experience limited social connectedness, difficulty living independently, and other poor outcomes at high rates. Vocational activities, including employment and postsecondary education, are associated with increased positive outcomes and subjective well-being in typical adults. This study identified vocational activity trajectory groups in adults with ASD, examined change in these trajectories from ages 18 to 28, and compared levels of parent- and self-report subjective well-being across trajectory groups. One hundred fifty-one adults with ASD were drawn from an ongoing longitudinal study. Data on psychosocial outcomes and vocational activities were compiled from parent-report demographic forms. Vocational activities were scored using the vocational index (VDI). There was no significant effect of age on the slope of vocational trajectories (p = 0.787). Participants in the Independent Activities group had significantly higher parent-report happiness factor scores than participants in the No Activities group (F [3, 107] = 3.56, p = 0.017) and significantly higher self-report happiness factor scores than participants in the Volunteer Activities group (F [2, 35] = 6.46, p = 0.004). The Independent Activities group was also significantly more likely to have at least one social contact (X(2) [3, 118] = 10.54, p = 0.014), however, there was no difference in trajectories groups in the likelihood of living independently (X(2) [3, 120] = 1.71, p = 0.634). The results of this study indicate vocational activities in young adults with ASD are stable across time. In the current sample, participation in independent vocational activities was associated with increased levels of subjective well-being.

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5. Cumin J, Pelaez S, Mottron L. Positive and differential diagnosis of autism in verbal women of typical intelligence: A Delphi study. Autism : the international journal of research and practice. 2021: 13623613211042719.

The diagnostic criteria for autism are relatively vague and can lead to both under- and over-diagnosis if applied as a checklist. The highest level of agreement that a person is autistic occurs when experienced clinicians are able to make use of their clinical judgment. However, it is not always clear what this judgment consists of. Given that particular issues exist when assessing for autism in adult women, we wanted to explore how expert clinicians address difficult diagnostic situations in this population. We interviewed 20 experienced psychologists and psychiatrists from seven countries and discussed how they conducted autism assessments in adult women. We then came up with a list of 35 statements that described participant views. Our participants completed an online survey where they rated their agreement with these statements and provided feedback on how the statements were worded and organized. We obtained a final list of 37 suggested clinical guidelines. Participants agreed that diagnostic tools and questionnaires had to be coupled with judgment and expertise. Participants felt that trauma and Borderline Personality Disorder could be difficult to differentiate from autism, and agreed on some ways to address this issue. Participants agreed that self-identification to the autism spectrum was frequent, and that it was important to provide alternative support when they did not ultimately diagnose autism.

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6. Dufour BD, Albores-Gallo L, Luna-Muñoz J, Hagerman R, Miquelajauregui A, Buriticá E, Saldarriaga W, Pacheco-Herrero M, Yris Silvestre-Sosa A, Mazefsky C, Gastgeb H, Kofler J, Casanova M, Hof PR, London E, Hagerman P, Martínez-Cerdeño V. Hispano-American Brain Bank on Neurodevelopmental Disorders: An initiative to promote brain banking, research, education, and outreach in the field of neurodevelopmental disorders. Brain pathology (Zurich, Switzerland). 2022; 32(2): e13019.

Neurodevelopmental disorders (NDDs) are conditions that present with brain dysfunction due to alterations in the processes of brain development. They present with neuropsychiatric, cognitive, and motor symptoms. Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are two of the most common NDDs. Human brain tissue is a scarce resource that is obtained from postmortem donations. In the case of NDDs, specifically autism, the reduced donation rate of brains prevents researchers to investigate its pathology and fine anatomy. The Hispano-American Brain Bank of Neurodevelopmental Disorders (Banco Hispanoamericano de CErebros de trastornos del NEurodesarrollo) or CENE is a large-scale brain bank for neurodevelopmental disorders in Hispano-America and the US. CENE’s objectives are to collect and distribute brains of patients with NDDS, with a focus on ASD and FXS, to perform research, promote education of future scientists, and enhance public awareness about the importance of human tissue availability for scientific research on brain function and disease. CENE has thus far established a bilingual system of nodes and teams in several American countries including California-US, Pennsylvania-US, México, Puerto Rico, Colombia, and Dominican Republic. CENE ensures that postmortem NDD samples used in research better match the world’s genetic and ethnic diversity. CENE enables and expands NDD brain research worldwide, particularly with respect to ASD and FXS.

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7. Gavazzi F, Charsar BA, Williams C, Shults J, Alves CA, Adang L, Vanderver A. Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy. Journal of child neurology. 2021; 36(10): 805-11.

Mutations in TUBB4A are associated with a spectrum of neurologic disorders categorized as TUBB4A-related leukoencephalopathy. Affected children can present with global developmental delay or normal early development, followed by a variable loss of skills over time. Further research is needed to characterize the factors associated with the divergent developmental trajectories in this rare monogenic disorder because this phenotypic spectrum is not fully explained by genotype alone.To characterize early psychomotor features, developmental milestones and age of disease onset were collected from medical records (n=54 individuals). Three subcohorts were identified: individuals with the common p.Asp249Asn variant vs all other genotypes with either early (<12 months of age) or late onset of presentation. Individuals with the p.Asp249Asn variant or those with non-p.Asp249Asn genotypes with later disease onset attained key milestones, including head control, sitting, and independent walking. Subjects with early-onset, non-p.Asp249Asn-associated disease were less likely to achieve developmental milestones. Next, we defined the developmental severity as the percentage of milestones attained by age 2 years. The mild form was defined as attaining at least 75% of key developmental milestones. Among cohort categorized as mild, individuals with p.Asp249Asn variant were more likely to lose acquired abilities when compared with non-p.Asp249Asn individuals.Our results suggest multiple influences on developmental trajectory, including a strong contribution from genotype and age of onset. Further studies are needed to identify additional factors that influence overall outcomes to better counsel families and to design clinical trials with appropriate clinical endpoints.

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8. Gibbs V, Cai RY, Aldridge F, Wong M. Autism assessment via telehealth during the Covid 19 pandemic: Experiences and perspectives of autistic adults, parents/carers and clinicians. Research in autism spectrum disorders. 2021; 88: 101859.

BACKGROUND: The COVID-19 pandemic has seen a rapid increase in the use of telehealth to deliver services to autistic individuals and their families. Research into the provision of autism assessments via telehealth is limited and few studies have explored clinician perspectives of conducting diagnostic assessments for autism in this way. The objective of this study was to examine the acceptability of a new telehealth model from the perspective of key stakeholder groups in an Australian community-based sample i.e. clients undergoing assessment, parent/carers and expert clinicians. METHODS: Sixteen adult clients (M (age) = 39.00, SD (age) = 14.39) and fifty-six parent/carers of children and adults (M (age) = 44.09, SD (age) = 9.87) undergoing autism assessments completed an online survey about their experiences of assessments via telehealth. Of these, six clients and twelve parent/carers agreed to participate in follow up interviews. Seven clinicians were also interviewed. RESULTS: In this study, the majority of adults and parent/carers reported that they, or the person they cared for, felt comfortable interacting with the clinician, would be willing to undergo future assessments via telehealth and were not concerned that important information had been missed during the assessment. Although the clinicians were slightly less satisfied with tele-assessment process compared to face-to-face and relied on external sources of information more than they would during a face-to-face assessment, their overall confidence in their diagnostic decision making remained high. CONCLUSION: Autism assessment via telehealth may be an acceptable alternative in some circumstances. However, a telehealth service should consider screening clients for suitability and adequately preparing clients for tele-assessments.

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9. Haase FD, Coorey B, Riley L, Cantrill LC, Tam PPL, Gold WA. Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models. Frontiers in neuroscience. 2021; 15: 698812.

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder, mostly caused by mutations in MECP2. The disorder mainly affects girls and it is associated with severe cognitive and physical disabilities. Modeling RTT in neural and glial cell cultures and brain organoids derived from patient- or mutation-specific human induced pluripotent stem cells (iPSCs) has advanced our understanding of the pathogenesis of RTT, such as disease-causing mechanisms, disease progression, and cellular and molecular pathology enabling the identification of actionable therapeutic targets. Brain organoid models that recapitulate much of the tissue architecture and the complexity of cell types in the developing brain, offer further unprecedented opportunity for elucidating human neural development, without resorting to conventional animal models and the limited resource of human neural tissues. This review focuses on the new knowledge of RTT that has been gleaned from the iPSC-based models as well as limitations of the models and strategies to refine organoid technology in the quest for clinically relevant disease models for RTT and the broader spectrum of neurodevelopmental disorders.

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10. Heimann M, Holmer E. Neonatal Imitation, Intersubjectivity, and Children With Atypical Development: Do Observations on Autism and Down Syndrome Change Our Understanding?. Frontiers in psychology. 2021; 12: 701795.

Almost all studies on neonatal imitation to date seem to have focused on typically developing children, and we thus lack information on the early imitative abilities of children who follow atypical developmental trajectories. From both practical and theoretical perspectives, these abilities might be relevant to study in children who develop a neuropsychiatric diagnosis later on or in infants who later show impaired ability to imitate. Theoretical in the sense that it will provide insight into the earliest signs of intersubjectivity-i.e., primary intersubjectivity-and how this knowledge might influence our understanding of children following atypical trajectories of development. Practical in the sense that it might lead to earlier detection of certain disabilities. In the present work, we screen the literature for empirical studies on neonatal imitation in children with an Autism spectrum disorder (ASD) or Down syndrome (DS) as well as present an observation of neonatal imitation in an infant that later was diagnosed with autism and a re-interpretation of previously published data on the phenomenon in a small group of infants with DS. Our findings suggest that the empirical observations to date are too few to draw any definite conclusions but that the existing data suggests that neonatal imitation can be observed both in children with ASD and in children with DS. Thus, neonatal imitation might not represent a useful predictor of a developmental deficit. Based on current theoretical perspectives advocating that neonatal imitation is a marker of primary intersubjectivity, we propose tentatively that an ability to engage in purposeful exchanges with another human being exists in these populations from birth.

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11. Hooper KM, Justice MJ, Patton EE. Developmental disorders Journal Meeting: a collaboration between Development and Disease Models & Mechanisms. Disease models & mechanisms. 2021; 14(9).

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12. Kim HG. Understanding sleep and sleep disturbances in autism spectrum disorder, and management of insomnia: an update. Yeungnam University journal of medicine. 2021; 38(4): 265-6.

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13. Liu GH, Ou P, Huang LS, Xie NM, Lin JL, He YS, Hu RF. Effects of parent-child painting and creative crafting therapy on preschool children with autism spectrum disorder and their mothers: a prospective randomized controlled trial. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2021; 23(8): 779-85.

OBJECTIVES: To study the effects of parent-child painting and creative crafting therapy on the core symptoms of preschool children with mild-to-moderate autism spectrum disorder (ASD) and the parenting stress and hope level of their mothers. METHODS: A total of 56 preschool children with mild-to-moderate ASD and their mothers were divided into an experimental group and a control group using the block randomization method, with 28 pairs in each group. The subjects in the control group received an applied behavior analytic intervention and those in the experimental group received parent-child painting and creative crafting therapy in addition to the intervention in the control group. The intervention time was 20 weeks for both groups. Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS), Parenting Stress Index-Short Form (PSI-SF), and Herth Hope Index (HHI) were used to evaluate the core symptoms of children and the parenting stress and hope level of their mothers before and after 20 weeks of intervention. RESULTS: Forty-nine child-mother pairs completed the study (25 pairs in the intervention group and 24 pairs in the control group). The children in the experimental group had significantly lower scores of social interaction, language, social communication, and social motivation and total scores of ABC and SRS compared with those in the control group (P<0.05). The mothers in the experimental group had significantly lower scores of parental distress and parent-child dysfunctional interaction and total score of PSI-SF (P<0.05) and significantly higher total score of HHI and scores of each dimension compared with those in the control group (P<0.05). CONCLUSIONS: The combination of applied behavior analytic intervention with parent-child painting and creative crafting therapy can more effectively improve the core symptoms and social interaction of preschool children with mild-to-moderate ASD, reduce the parenting stress of mothers and improve their hope level. OBJECTIVE: To study the effects of parent-child painting and creative crafting therapy on the core symptoms of preschool children with mild-to-moderate autism spectrum disorder (ASD) and the parenting stress and hope level of their mothers. METHODS: A total of 56 preschool children with mild-to-moderate ASD and their mothers were divided into an experimental group and a control group using the block randomization method, with 28 pairs in each group. The subjects in the control group received an applied behavior analytic intervention and those in the experimental group received parent-child painting and creative crafting therapy in addition to the intervention in the control group. The intervention time was 20 weeks for both groups. Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS), Parenting Stress Index-Short Form (PSI-SF), and Herth Hope Index (HHI) were used to evaluate the core symptoms of children and the parenting stress and hope level of their mothers before and after 20 weeks of intervention. RESULTS: Forty-nine child-mother pairs completed the study (25 pairs in the intervention group and 24 pairs in the control group). The children in the experimental group had significantly lower scores of social interaction, language, social communication, and social motivation and total scores of ABC and SRS compared with those in the control group (P<0.05). The mothers in the experimental group had significantly lower scores of parental distress and parent-child dysfunctional interaction and total score of PSI-SF (P<0.05) and significantly higher total score of HHI and scores of each dimension compared with those in the control group (P<0.05). CONCLUSIONS: The combination of applied behavior analytic intervention with parent-child painting and creative crafting therapy can more effectively improve the core symptoms and social interaction of preschool children with mild-to-moderate ASD, reduce the parenting stress of mothers and improve their hope level. eng.

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14. Liu X, Sun X, Sun C, Zou M, Chen Y, Huang J, Wu L, Chen WX. Prevalence of epilepsy in autism spectrum disorders: A systematic review and meta-analysis. Autism : the international journal of research and practice. 2022; 26(1): 33-50.

Autistic individuals experience higher co-occurring medical conditions than the general population, and yet the estimates of autistic individuals with epilepsy are not updated. Co-occurrence of epilepsy in autistic individuals often aggravated cognitive impairment and increased the risk of poor long-term prognosis. Thus, an updated systematic review and meta-analysis was conducted to study the relevant articles published from inception to 2020, evaluate the prevalence of epilepsy in autistic individuals, and further explore the putative factors influencing the prevalence. A total of 66 studies from 53 articles were included in this study. The results showed that epilepsy is more common in autistic individuals than in the general population. The prevalence of epilepsy in autistic individuals in the clinical sample-based studies was higher than that in the population-based based cross-sectional or cohort studies. The prevalence of epilepsy in autistic adults was higher than that in autistic children. A significantly increased prevalence of epilepsy was detected in the autistic adolescent group (11-17 years old), and a higher trend of prevalence of epilepsy was observed in the autistic pre-school group (⩽ 6 -years-old) than that of the autistic school-aged group (7-10 years-old). The prevalence of epilepsy increased with age, female rate, and low intellectual function rate of autistic individuals. However, the human development index of countries was negatively associated with the pooled prevalence, which could be attributed to the different levels of awareness, diagnostic technologies, and autism-service support worldwide. About 1/10 autistic individuals also had epilepsy, which was common in the clinical setting, adolescents, adults, females, or patients with intellectual disability and less common in the country with high human development index. Thus, these findings provided critical and innovative views on the prevalence of epilepsy in autistic individuals and contributed to the targeted clinical management and preventive measures.

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15. Lombardo MV, Eyler L, Pramparo T, Gazestani VH, Hagler DJ, Jr., Chen CH, Dale AM, Seidlitz J, Bethlehem RAI, Bertelsen N, Barnes CC, Lopez L, Campbell K, Lewis NE, Pierce K, Courchesne E. Atypical genomic cortical patterning in autism with poor early language outcome. Science advances. 2021; 7(36): eabh1663.

Cortical regionalization develops via genomic patterning along anterior-posterior (A-P) and dorsal-ventral (D-V) gradients. Here, we find that normative A-P and D-V genomic patterning of cortical surface area (SA) and thickness (CT), present in typically developing and autistic toddlers with good early language outcome, is absent in autistic toddlers with poor early language outcome. Autistic toddlers with poor early language outcome are instead specifically characterized by a secondary and independent genomic patterning effect on CT. Genes involved in these effects can be traced back to midgestational A-P and D-V gene expression gradients and different prenatal cell types (e.g., progenitor cells and excitatory neurons), are functionally important for vocal learning and human-specific evolution, and are prominent in prenatal coexpression networks enriched for high-penetrance autism risk genes. Autism with poor early language outcome may be explained by atypical genomic cortical patterning starting in prenatal development, which may detrimentally affect later regional functional specialization and circuit formation.

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16. Mallory C, Keehn B. Implications of Sensory Processing and Attentional Differences Associated With Autism in Academic Settings: An Integrative Review. Frontiers in psychiatry. 2021; 12: 695825.

The impact of classroom environments on student engagement and academic performance is well-documented. Autism spectrum disorder (ASD) is associated with atypical sensory processing and attentional impairments, which may lead to challenges in successfully accessing educational material within these settings. These symptoms may help explain why students with ASD show discrepancies between intellectual ability and academic performance. Given the increasing number of students with ASD present in classrooms, understanding strengths and weaknesses in sensory processing and attention is necessary in order to design better classroom environments and develop more efficacious accommodations and interventions to support optimal student success. Therefore, the objectives of this review are to provide a brief review of the current literature on sensory processing and attention in ASD, survey how sensory and attentional functions affect academic outcomes in both neurotypical and ASD learners, and suggest potential accommodations/interventions for students with ASD based on these findings.

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17. Mira Coelho A, da Conceição V. Predictors in ASD: The Importance of Parents’ Perception. Frontiers in psychiatry. 2021; 12: 506148.

Several predictors may influence children’s developmental trajectories with Autism Spectrum Disorder (ASD), and parents’ concerns may play an important role. This study aimed to investigate developmental trajectories of two groups of children with ASD to understand predictive factors, including parental perception. We examined the clinical features of a sample of 55 children with ASD at 3 and 6 years of age in two moments of evaluation to understand this process. We used the Autism Diagnostic Observation Schedule, (ADOS) in both moments. We selected two groups based on ADOS results at moment two: one group with a worse outcome (ADOS results above 8) and one group with a better outcome (ADOS results below 8 in the second moment). We also selected questions from a questionnaire (elaborated by the authors and used in clinical practice) applied to parents to understand if early parents’ concerns may help to predict ASD prognosis. We found a significant association between imitation and playability and the child’s prognostic. Also, Interactive Gestures, Beginning of Joint Attention, Reciprocity, and Pleasure in Interaction might help identify positive case evolution. Our findings are significant in early intervention program development, not only with direct intervention with the child but also including the parents’ involvement in the intervention.

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18. Morel-Kohlmeyer S, Thillay A, Roux S, Amado I, Brenugat L, Carteau-Martin I, Danset-Alexandre C, Gaudelus B, Graux J, Peyroux E, Prost Z, Krebs MO, Franck N, Bonnet-Brilhault F, Houy-Durand E. When Alterations in Social Cognition Meet Subjective Complaints in Autism Spectrum Disorder: Evaluation With the « ClaCoS » Battery. Frontiers in psychiatry. 2021; 12: 643551.

Background: Deficit in social communication is a core feature in Autism Spectrum Disorder but remains poorly assessed in classical clinical practice, especially in adult populations. This gap between needs and practice is partly due to a lack of standardized evaluation tools. The multicentric Research group in psychiatry GDR3557 (Institut de Psychiatrie) developed a new battery for social cognitive evaluation named « ClaCoS, » which allows testing the main components of social cognition: Emotion Recognition, Theory of Mind, Attributional Style, and Social Perception and Knowledge. It further provides an assessment of subjective complaints in social cognition. Methods: We compared the social cognition abilities of 45 adults with Autism Spectrum Disorder without intellectual disability and 45 neurotypically developed volunteers using the « ClaCoS » battery, in order to determine its relevance in the evaluation of social cognition impairments in autism. A correlational approach allowed us to test the links between subjective complaints and objectively measured impairments for the different components of social cognition. Results: As expected, the Autism Spectrum Disorder group showed deficits in all four components of social cognition. Moreover, they reported greater subjective complaints than controls regarding their social abilities, correlated to the neuropsychological assessments. Conclusion: The « ClaCoS » battery is an interesting tool allowing to assess social impairments in autism and to specify the altered components, for a better adjustment of tailored social cognition training programs. Our results further suggest that people with Autism Spectrum Disorder have a good social cognitive insight, i.e., awareness into social cognitive functioning, and may thus benefit from social cognitive training tools.

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19. Santiago RT, McIntyre LL, Garbacz SA. Dimensions of family-school partnerships for autistic children: Context and congruence. School psychology (Washington, DC). 2022; 37(1): 4-14.

Family-school partnerships are crucial for promoting positive outcomes and serving as a protective factor for children at-risk for poor school outcomes (Christenson & Sheridan, 2001). This may be particularly important for autistic children, who are at increased developmental risk (Garbacz et al., 2016). However, little research has examined variables related to dimensions of these partnerships for parents and teachers of autistic children. The present study examined family socioeconomic resources in relation to two dimensions of family-school partnerships (relationship quality and family involvement) among parents of autistic children, as well as dyadic perceptions of relationship quality among parents and teachers of autistic children. Data were collected across two time points (Time 1 N = 68 parents, child ages = 5-11; Time 2 parent-teacher dyad N = 22, child ages = 7-13). Results suggest that (a) higher appraisal of financial resources was associated with higher parent-reported family involvement after controlling for child autism spectrum disorder (ASD) characteristics and (b) higher parent-reported relationship quality and family involvement at one time were significantly associated with positive independent (parent and teacher) and congruent ratings of parent-teacher relationship quality 2 years later. Study limitations, future directions, and practical implications are discussed. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

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20. Schrier MS, Zhang Y, Trivedi MS, Deth RC. Decreased cortical Nrf2 gene expression in autism and its relationship to thiol and cobalamin status. Biochimie. 2022; 192: 1-12.

Nuclear factor erythroid 2-related factor 2 (Nrf2) promotes expression of a large number of antioxidant genes and multiple studies have described oxidative stress and impaired methylation in autism spectrum disorder (ASD), including decreased brain levels of methylcobalamin(III) (MeCbl). Here we report decreased expression of the Nrf2 gene (NFE2L2) in frontal cortex of ASD subjects, as well as differences in other genes involved in redox homeostasis. In pooled control and ASD correlation analyses, hydroxocobalamin(III) (OHCbl) was inversely correlated with NFE2L2 expression, while MeCbl and total cobalamin abundance were positively correlated with NFE2L2 expression. Levels of methionine, S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH) and cystathionine were positively correlated with NFE2L2 expression, while homocysteine (HCY) was negatively correlated. The relationship between Nrf2 activity and cobalamin was further supported by a bioinformatics-based comparison of cobalamin levels in different tissues with expression of a panel of 40 Nrf2-regulated genes, which yielded a strong correlation. Lastly, Nrf2-regulated gene expression was also correlated with expression of intracellular cobalamin trafficking and processing genes, such as MMADHC and MTRR. These findings highlight a previously unrecognized relationship between the antioxidant-promoting role of Nrf2 and cobalamin status, which is dysfunctional in ASD.

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21. Seo WS. An update on the cause and treatment of sleep disturbance in children and adolescents with autism spectrum disorder. Yeungnam University journal of medicine. 2021; 38(4): 275-81.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by abnormalities in social communication/interaction and restrictive, repetitive patterns of behavior. ASD is a relatively common psychiatric disorder, with a prevalence of approximately 1.7% in children. Although many children and adolescents with ASD visit the hospital for medical help for emotional and behavioral problems such as mood instability and self-harming behavior, there are also many visits for sleep disturbances such as insomnia and sleep resistance. Sleep disturbances are likely to increase fatigue and daytime sleepiness, impaired concentration, negatively impact on daytime functioning, and pose challenges in controlling anger and aggressive behavior. Sleep disturbance in children and adolescents with ASD negatively affects the quality of life, nothing to say the quality of life of their families and school members. In this review, sleep disturbances that are common in children and adolescents with ASD and adolescents are presented. The developmental and behavioral impacts of sleep disturbances in ASD were also considered. Finally, non-pharmacological and pharmacological treatments for sleep disturbances in children and adolescents with ASD and adolescents are reviewed.

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22. Stirling M, Anderson A, Ouellette-Kuntz H, Hallet J, Shooshtari S, Kelly C, Dawe DE, Kristjanson M, Decker K, Mahar AL. A scoping review documenting cancer outcomes and inequities for adults living with intellectual and/or developmental disabilities. European journal of oncology nursing : the official journal of European Oncology Nursing Society. 2021; 54: 102011.

INTRODUCTION: Emerging evidence suggests adults with intellectual and/or developmental disabilities (IDD) may be at risk of inequities in cancer experiences and outcomes. Individuals with IDD may experience multiple barriers that could worsen outcomes and experience. These barriers may be connected to features of IDD or the healthcare system overall. Future research and program planning to support adults with IDD and cancer must be informed by evidence that acknowledges potential disparities, underlying determinants, and knowledge deficits. OBJECTIVE: We conducted a scoping review to systematically map the evidence describing and comparing cancer-related outcomes along the cancer continuum from risk to mortality for adults with IDD. We identified specific factors observed to influence those outcomes. METHODS: We followed the expanded Arksey & O’Malley framework for conducting the scoping review. We searched for literature in PubMed and Embase databases. We abstracted cancer-related data, IDD-related data, and data related to physical and social determinants of health. RESULTS: Of the 2796 studies retrieved, 38 were included for review. Most studies focused on screening outcomes and experiences. Studies reported that adults with IDD experienced inequities at various points along the cancer continuum. Numerous social and physical determinants of health influenced the experiences and outcomes of adults with IDD. CONCLUSION: This scoping review identified significant gaps in the literature. Of note was the focus on cancer screening and lack of attention to larger systems of oppression that may influence poor cancer experiences and outcomes for adults with IDD. There is strong need to improve both quality and quantity of research in this area.

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23. Tomaszewski B, Savage MN, Hume K. Examining physical activity and quality of life in adults with autism spectrum disorder and intellectual disability. Journal of intellectual disabilities : JOID. 2021: 17446295211033467.

Adults with autism and co-occurring intellectual disability engage in low levels of physical activity and are at increased risk of developing secondary health conditions attributed to physical inactivity compared to adults in the general population. Few studies have examined the use of objective measures to characterize physical activity levels for adults with autism and intellectual disability. The current study aimed to examine the relationship between physical activity, using an activity tracker, and quality of life in adults with autism and intellectual disability. In the current study, 38 adults with autism and intellectual disability, ages 18-55, wore a Fitbit Flex 2® activity tracker for 1 week, and completed the Quality of Life Questionnaire. The relationship between average daily step count quality of life was examined. Most adults in the sample were overweight and taking fewer daily steps than recommended guidelines. Increased average daily step count was significantly associated with quality of life.

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24. Villarreal-Martínez L, González-Martínez G, Sáenz-Flores M, Bautista-Gómez AJ, González-Martínez A, Ortiz-Castillo M, Robles-Sáenz DA, Garza-López E. Stem Cell Therapy in the Treatment of Patients With Autism Spectrum Disorder: a Systematic Review and Meta-analysis. Stem cell reviews and reports. 2022; 18(1): 155-64.

OBJECTIVE: Assess the safety and efficacy of upcoming stem cell treatments and analyze their effects on the cognitive and behavioral impairments in patients diagnosed with autism. METHODS: We included controlled and noncontrolled, randomized and non-randomized trials evaluating stem cell therapy as a treatment in patients with autism spectrum disorder compared to placebo or without comparator. DATA SOURCES: Scopus, Web of Science, MEDLINE and EMBASE. Risk of bias was assessed using Cochrane’s Risk of Bias tool and the NIH’s Quality Assessment Tool for Studies With No Control Group. RESULTS: Eleven trials including 461 patients proved eligible. ABC scale meta-analysis showed a mean raw of -11.97 in the intervention groups (95 % CI -91.45 to 67.52, p < 0.01). CARS scale reported a mean raw of -9.08 (95 % CI -15.43 to -2.73, p < 0.01). VABS scale was reported by their domains: communication domain reported a mean raw of 2.69 (95 % CI 1.30 to 4.08, p = 0.92); daily living domain, 1.99 (95 % CI 0.83 to 3.15, p = 0.51); motor domain, 1.06 (95 % CI -0.37 to 2.48, p = 0.20); socialization domain, 3.09 (95 % CI 1.71 to 4.48, p = 0.61); adaptive behavior domain, 2.10 (95 % CI 1.04 to 3.16, p = 0.36). Furthermore, the most common side effects reported included fever, hyperactivity, vomit, headache, and aggressiveness; no serious adverse events were reported. CONCLUSIONS: The body of evidence suggests that stem cell therapy significantly improves scales in patients with autism spectrum disorder, hence, future studies should help us have more confidence in the results. We found no serious adverse events related to the stem cell therapy.

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25. Wang X, Gao C, Zhang Y, Hu S, Qiao Y, Zhao Z, Gou L, Song J, Wang Q. Corrigendum: Overexpression of mGluR7 in the Prefrontal Cortex Attenuates Autistic Behaviors in Mice. Frontiers in cellular neuroscience. 2021; 15: 747696.

[This corrects the article DOI: 10.3389/fncel.2021.689611.].

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