1. Expression of Concern: Atypical Mismatch Negativity in Response to Emotional Voices in People with Autism Spectrum Conditions. PloS one. 2021; 16(8): e0256413.

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2. Bahry JA, Fedder-Semmes KN, Sceniak MP, Sabo SL. An Autism-Associated de novo Mutation in GluN2B Destabilizes Growing Dendrites by Promoting Retraction and Pruning. Frontiers in cellular neuroscience. 2021; 15: 692232.

Mutations in GRIN2B, which encodes the GluN2B subunit of NMDA receptors, lead to autism spectrum disorders (ASD), but the pathophysiological mechanisms remain unclear. Recently, we showed that a GluN2B variant that is associated with severe ASD (GluN2B(724t)) impairs dendrite morphogenesis. To determine which aspects of dendrite growth are affected by GluN2B(724t), we investigated the dynamics of dendrite growth and branching in rat neocortical neurons using time-lapse imaging. GluN2B(724t) expression shifted branch motility toward retraction and away from extension. GluN2B(724t) and wild-type neurons formed new branches at similar rates, but mutant neurons exhibited increased pruning of dendritic branches. The observed changes in dynamics resulted in nearly complete elimination of the net expansion of arbor size and complexity that is normally observed during this developmental period. These data demonstrate that ASD-associated mutant GluN2B interferes with dendrite morphogenesis by reducing rates of outgrowth while promoting retraction and subsequent pruning. Because mutant dendrites remain motile and capable of growth, it is possible that reducing pruning or promoting dendrite stabilization could overcome dendrite arbor defects associated with GRIN2B mutations.

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3. Corden K, Brewer R, Cage E. Personal Identity After an Autism Diagnosis: Relationships With Self-Esteem, Mental Wellbeing, and Diagnostic Timing. Frontiers in psychology. 2021; 12: 699335.

Adults are increasingly seeking autism diagnoses, although less is known about their experiences of diagnosis and personal identity (i.e., autism as part of « me »), and how this relates to self-esteem and wellbeing. One-hundred and fifty-one autistic adults completed an online survey including measures of self-esteem, psychological wellbeing, and autistic personal identity, which considered whether participants took pride in or were dissatisfied with being autistic. Fifty-four participants answered a qualitative question about the impact of receiving an autism diagnosis on their sense of self. Regression analyses found that greater time elapsed since diagnosis related to less dissatisfaction with autistic personal identity. We also found that more dissatisfaction with autistic personal identity predicted lower self-esteem, and more autism pride predicted higher self-esteem. Content analysis of participants’ experiences supported the quantitative findings and was suggestive of an emotive post-diagnostic adjustment process. Future research should aim to identify ways to promote the development of a positive autistic personal identity post-diagnosis in adulthood.

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4. Doi S, Kobayashi Y, Takebayashi Y, Mizokawa E, Nakagawa A, Mimura M, Horikoshi M. Associations of Autism Traits With Obsessive Compulsive Symptoms and Well-Being in Patients With Obsessive Compulsive Disorder: A Cross-Sectional Study. Frontiers in psychology. 2021; 12: 697717.

The aim of this study is to examine the association of autism traits with long-term obsessive compulsive disorder (OCD) symptoms and well-being levels in patient with OCD. Participants comprised 18 outpatients from a tertiary hospital and 100 adults who were registered in a large Japanese internet marketing research company and met OCD criteria by the Mini-International Neuropsychiatric Interview and were between the ages of 20 and 65 years. Clinical characteristics, autism trait assessed using the Autism Spectrum Quotient (AQ), OCD symptoms assessed using Yale-Brown Obsessive-Compulsive Scale (Y-BOCS), and well-being assessed using the Flourishing Scale were assessed. Multiple regression analyses showed that a greater total score of AQ, a greater subscale score « imagination » was associated with a greater score of Y-BOCS. Greater total score of AQ, a greater subscale score « social skill, » and « imagination » were associated with lower well-being score. Autism traits, especially lack of imagination, were associated with more severe OCD symptoms. Further, autism traits, especially social skill problems and lack of imagination, were associated with lower levels of well-being. Assessment of autism traits before treatment and a strategy designed for OCD patients with autism traits may be warranted.

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5. Garcia JM, Cathey B, Shurack R, Brazendale K, Leahy N, Lee E, Lawrence S. Evaluation of a Nutrition Education and Culinary Program for Adolescents With Autism Spectrum Disorder. Journal of nutrition education and behavior. 2021; 53(11): 987-90.

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6. Gunin GB, Gravino A, Bal VH. Advancing Mental Health Supports for Autistic Postsecondary Students: A Call for Research. Autism in adulthood : challenges and management. 2021; 3(1): 30-6.

Research has documented elevated rates of co-occurring depression and anxiety in autistic adults, with some noting particularly high rates for autistic students enrolled in postsecondary education. Difficulty coping with the stressors that accompany daily life as they navigate college campuses may contribute to development or exacerbation of co-occurring conditions. Autistic students have reported that depression, anxiety and stress interfere with their success in college, but that they have difficulty identifying and accessing the supports that they need. Though many postsecondary institutions have established programs that provide academic supports to autistic students, few programs directly support mental health and wellness. Recently, stakeholders have advocated for mental health to be prioritized in adult autism research. We suggest that a specific focus on autistic students in postsecondary education is warranted and provide a brief overview of the relatively limited literature in this area. To inform development of mental health services and supports that will be both accessible and acceptable to the range of autistic students attending postsecondary education, research is recommended in four areas: factors positively and negatively affecting mental health; types of supports; outreach; on-campus training and education. It will be essential for researchers to establish community partnerships with autistic individuals to inform study design and specific research questions. This will ensure that autistic voices guide development of supports that will foster positive mental health in postsecondary education and beyond.

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7. MacDonald LL, Gray L, Loring W, Wyatt A, Bonnet K, Schlund D, Gaston ML, Malow BA. A community-based sleep educational intervention for children with autism spectrum disorder. Research in autism spectrum disorders. 2021; 81.

BACKGROUND: Sleep problems are common in children with autism spectrum disorder (ASD). Sleep education, effective in improving sleep in ASD, may be difficult to access. We determined if community-based pediatric therapists could successfully deliver sleep educational interventions to caregivers of children with ASD. METHODS: A seven-week feasibility study was conducted consisting of 10 children and caregivers. This feasibility study informed the development of a 16-week preliminary effectiveness study, which consisted of 33 children and caregivers. Children, ages 2-12 years, with a clinical diagnosis of autism and caregiver-reported sleep onset delay of 30 min were included. Community therapists underwent comprehensive training in sleep education and then met with caregiver participants to provide sleep education to each family. Semi-structured qualitative interviews were conducted with all families who completed study procedures.In the feasibility and preliminary effectiveness studies, child participants wore an actigraphy watch (at baseline and after sleep education) and caregivers completed the Child Sleep Habits Questionnaire and Family Inventory of Sleep Habits at baseline and after sleep education; the Child Behavior Checklist was also completed by caregivers in the preliminary effectiveness study. RESULTS: Educator fidelity to the manualized curriculum was maintained. Caregivers showed appropriate understanding, comfort, and implementation of the curriculum. Qualitative and quantitative measures, including caregiver surveys and actigraphy, showed improvements in child sleep and behavior. CONCLUSIONS: Community-based therapists can successfully deliver sleep education to families of children with ASD, which has favorable implications for improving access to care in this population.

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8. Pagni BA, Braden BB. Early Reflections on the Therapeutic Effects of Mindfulness-Based Therapies in Adults with Autism and Suggestions for Future Research. Journal of psychiatry and brain science. 2021; 6.

Emerging research suggests mindfulness-based therapies positively impact adults with autism spectrum disorder (ASD). However, questions concerning intervention active ingredients, the breadth and duration of impact, and psychological and neural mechanisms of change remain. Here we discuss what is known about mindfulness-based therapies in adults with ASD and offer suggestions for future research.

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9. Patil P, Sidener TM, Pane H, Reeve SA, Nirgudkar A. Teaching Children With Autism Spectrum Disorder to Mand « Why? ». The Analysis of verbal behavior. 2021; 37(1): 1-16.

For most children with autism spectrum disorder (ASD), manding for information is an important skill that must be systematically taught. Although previous studies have evaluated interventions for teaching other mands for information, to date no studies have demonstrated effective procedures for teaching the mand « why? » The purpose of the present study was to teach 3 children with ASD to mand « why? » under relevant establishing operation conditions in 3 distinct scenarios. A trial-unique multiple-exemplar procedure was used to promote generalization and increase the value of information provided across trials. All 3 participants learned to mand « why? » in all 3 scenarios within a mean of 18 sessions (range 14-21 sessions), demonstrated generalization to novel stimuli and settings, and maintained this skill over time. Social validity for the intervention had an overall mean of 5.88 (range 1-7).

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10. Pyles ML, Chastain AN, Miguel CF. Teaching Children with Autism to Mand for Information Using « Why? » as a Function of Denied Access. The Analysis of verbal behavior. 2021; 37(1): 17-34.

The current study evaluated a procedure used to teach two children with autism to ask « why » questions maintained by causal information about an event. To increase the value of information as a reinforcer, the experimenter denied access to preferred items and did not provide a reason for the denial. Participants were taught to ask « why » questions and were provided with information that led them to access preferred items. To ensure that « why » questions only occurred when the information was valuable, we included a condition wherein access to preferred items was restricted but causal information was available. Both participants learned to ask « why » questions when causal information was not available and refrained from asking « why » questions when causal information was available.

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11. Su M, Page S, Haag M, Swisshelm K, Hennerich D, Graw S, LeRoux J, Brzeskiewicz P, Svihovec S, Bao L. Clinical utility and cost-effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center. Journal of genetic counseling. 2022; 31(2): 364-74.

Chromosomal microarray (CMA) is now widely used as first-tier testing for the detection of copy number variants (CNVs) and absence of heterozygosity (AOH) in patients with multiple congenital anomalies (MCA), autism spectrum disorder (ASD), developmental delay (DD), and/or intellectual disability (ID). Chromosome analysis is commonly used to complement CMA in the detection of balanced genomic aberrations. However, the cost-effectiveness and the impact on clinical management of chromosome analysis concomitant with CMA were not well studied, and there is no consensus on how to best utilize these two tests. To assess the clinical utility and cost-effectiveness of chromosome analysis concomitant with CMA in patients with MCA, ASD, DD, and/or ID, we retrospectively analyzed 3,360 postnatal cases for which CMA and concomitant chromosome analysis were performed in the Colorado Genetic Laboratory (CGL) at the University Of Colorado School Of Medicine. Chromosome analysis alone yielded a genetic diagnosis in two patients (0.06%) and contributed additional information to CMA results in 199 (5.92%) cases. The impact of abnormal chromosome results on patient management was primarily related to counseling for reproductive and recurrence risks assessment (101 cases, 3.01%) while a few (5 cases, 0.15%) led to changes in laboratory testing and specialist referral (25 cases, 0.74%). The incremental cost-effectiveness ratio (ICER) of combined testing demonstrated the cost of each informative chromosome finding was significantly higher for patients with clinically insignificant (CI) CMA findings versus clinically significant (CS) CMA results. Our results suggest that a stepwise approach with CMA testing with reflex to chromosome analysis on cases with CS CMA findings is a more cost-effective testing algorithm for patients with MCA, ASD, and/or DD/ID.

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12. Thakore A, Stockwell A, Eshleman J. Learning Channels: The Role of Compound Stimuli in the Emergence of Intraverbal Relations in Children on the Autism Spectrum. The Analysis of verbal behavior. 2021; 37(1): 97-122.

Teaching tact and intraverbal responses based on function-feature-class to children with language delays can result in the emergence of untrained relational responses. The purpose of this study was to compare the effects of compound stimuli in discriminated operants (i.e., different combinations of hear, see, touch, and taste) on the acquisition of object-attribute relations, on the emergence of untrained attribute-object relations, and on the acquisition and emergence of same-different relations between objects and their attributes. All the participants were on the autism spectrum and between 4 and 12 years old. Participants who did not meet the mastery criterion or show emergent intraverbal responses during initial training trials completed a fluency-based practice phase. Overall results showed that all six participants required fewer trials to meet the criterion in the condition involving compound stimuli (e.g., HearSeeSay plus Touch, Taste, or Sniff) as compared to the HearSeeSay-alone condition. In addition, participants required fewer fluency practice timings in the condition involving compound stimuli to meet fluency aim.

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13. Toffoli L, Scerif G, Snowling MJ, Norcia AM, Manning C. Global motion evoked potentials in autistic and dyslexic children: A cross-syndrome approach. Cortex; a journal devoted to the study of the nervous system and behavior. 2021; 143: 109-26.

Atypicalities in psychophysical thresholds for global motion processing have been reported in many neurodevelopmental conditions, including autism and dyslexia. Cross-syndrome comparisons of neural dynamics may help determine whether altered motion processing is a general marker of atypical development or condition-specific. Here, we assessed group differences in N2 peak amplitude (previously proposed as a marker of motion-specific processing) in typically developing (n = 57), autistic (n = 29) and dyslexic children (n = 44) aged 6-14 years, in two global motion tasks. High-density EEG data were collected while children judged the direction of global motion stimuli as quickly and accurately as possible, following a period of random motion. Using a data-driven component decomposition technique, we identified a reliable component that was maximal over occipital electrodes and had an N2-like peak at ~160 msec. We found no group differences in N2 peak amplitude, in either task. However, for both autistic and dyslexic children, there was evidence of atypicalities in later stages of processing that require follow up in future research. Our results suggest that early sensory encoding of motion information is unimpaired in dyslexic and autistic children. Group differences in later processing stages could reflect sustained global motion responses, decision-making, metacognitive processes and/or response generation, which may also distinguish between autistic and dyslexic individuals.

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14. Vafaeie F, Alerasool M, Kaseb Mojaver N, Mojarrad M. Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene. Cureus. 2021; 13(7): e16340.

Fragile X syndrome (FXS) has been reported as the leading cause of mental retardation (MR) that predominantly involves males compared to females. An over-expansion of CGG repeats in the 5′ untranslated region of the FMR1 gene plays the primary role in this disease. In this study, we encountered a homozygote female patient affected by FMR1 expansion mutation. Surprisingly, she had inherited her full-mutated alleles from two different ancestors. This condition is an extremely rare case of FXS. After accurate genetic counseling, family members were referred to the laboratory for genetic testing. Karyotype with two X chromosomes was the finding after the G-banding study of the proband. Molecular analysis indicated that she was a female with full-mutated or pre-mutated alleles on both of her X chromosomes. It is a rare phenomenon that we detected in this patient. We have concluded that a combination of allele instability during oogenesis and inheritance of two alleles are the leading cause of MR in the presented case.

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15. Wang Q, Hoi SP, Song C, Li T, Lam CM, Wang Y, Yi L. Circumscribed Interest Modulates Attention to Eyes in Boys With and Without Autism Spectrum Disorder. Frontiers in psychiatry. 2021; 12: 627365.

Children with autism spectrum disorder (ASD) exhibit abnormal visual attention, such as diminished attention to eyes and enhanced attention to high-autism-interest objects. We tested whether high-autism-interest objects would modulate the attention to eyes in boys with ASD and typically developing (TD) boys. Twenty-two ASD and 22 TD children were presented simultaneously with human eyes and high/low-autism-interest objects (HAI/LAI) while their eye movements were recorded. We found that visual preference for eyes was influenced by competing objects in children with and without ASD. Specifically, both children with and without ASD showed reduced overall and first looking preference when eyes were paired with HAI objects relative to LAI objects. Children with ASD also showed reduced sustained viewing preference to the eyes after first looking at the eyes and late looking preference to the eyes after first looking at the objects in the HAI condition than the LAI condition, but these effects were absent in the TD group. Our study not only helps us understand some factors that impact attention to eyes, but also has implications for interventions aiming at improving eye contact in children with ASD.

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16. Wang Z, Chan AYL, Coghill D, Ip P, Lau WCY, Simonoff E, Brauer R, Wei L, Wong ICK, Man KKC. Association Between Prenatal Exposure to Antipsychotics and Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, Preterm Birth, and Small for Gestational Age. JAMA internal medicine. 2021; 181(10): 1332-40.

IMPORTANCE: The risk of birth and neurodevelopmental complications with prenatal exposure to antipsychotics is unclear. OBJECTIVE: To evaluate the association between prenatal antipsychotics exposure and the risk of birth and neurodevelopmental problems. DESIGN, SETTING, AND PARTICIPANTS: This population-based cohort study included children born between January 2001 and January 2015 with follow-up to December 2019 who were identified by the Hong Kong Clinical Data Analysis and Reporting System. Pregnancies with maternal antidepressant/lithium exposure were removed. Primary analyses compared gestationally exposed and gestationally nonexposed individuals with propensity score fine stratification. Additional analyses included gestationally exposed individuals vs those with past exposure and a sibling-matched analysis to evaluate the effect of confounding by indication. EXPOSURES: Prenatal antipsychotic exposure. MAIN OUTCOMES AND MEASURES: Preterm birth (<37 gestational weeks), small for gestational age (birth weight <2 standard deviations below the mean for gestational age), and first diagnosis of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in children. RESULTS: The cohorts included 333 749 mother-child pairs for ADHD (mean [SD] maternal age at delivery, 31.46 [5.03] years) and 411 251 pairs for ASD, preterm birth, and small for gestational age analyses (mean [SD] maternal age at delivery, 31.56 [5.01] years). There were 13 196 children (3.95%) with a diagnosis of ADHD, 8715 (2.12%) with ASD, 33 891 (8.24%) preterm, and 7009 (1.70%) who were small for gestational age. The weighted hazard ratio (wHR) was 1.16 (95% CI, 0.83-1.61) for ADHD and 1.06 (95% CI, 0.70-1.60) for ASD, while the weighted odds ratio (wOR) was 1.40 (95% CI, 1.13-1.75) for preterm birth and 1.36 (95% CI, 0.86-2.14) for small for gestational age when comparing gestationally exposed with gestationally nonexposed individuals. Additional analyses showed no association when comparing gestationally exposed individuals with those with past exposure (ADHD: wHR, 0.99; 95% CI, 0.60-1.61; ASD: wHR, 1.10; 95% CI, 0.58-2.08; preterm birth: wOR, 0.93; 95% CI, 0.70-1.24; small for gestational age: wOR, 1.21; 95% CI, 0.66-2.20) and in a sibling-matched analysis (ADHD: wHR, 0.41; 95% CI, 0.04-4.93; ASD: wHR, 0.90; 95% CI, 0.40-2.01; preterm birth: wOR, 1.25; 95% CI, 0.85-1.82; small for gestational age: wOR, 0.86, 95% CI, 0.32-2.31). CONCLUSIONS AND RELEVANCE: In this cohort study, the findings did not suggest that prenatal antipsychotics exposure increased the risk of ADHD, ASD, or small for gestational age. In the primary analysis, there was a small increased risk of preterm birth, but additional analyses comparing gestationally exposed individuals with those with past exposure and comparing gestationally exposed with gestationally nonexposed siblings did not support an increased risk. Given the benefits of treating psychosis during pregnancy, our findings do not support a recommendation for women to discontinue receipt of their regular antipsychotic treatment during pregnancy.

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17. Zhao X, Zhao B, Li W, Cai Y, Shi W, Li C. Autistic traits and gender modulate emotion changes before and during the COVID-19 pandemic. Current psychology (New Brunswick, NJ). 2021: 1-11.

Individuals with autism spectrum disorder (ASD) show an enhanced response to stressors, and gender plays an important role in stress response. Thus, autistic traits (ATs) in the general population and gender may regulate the emotion changes before and during the COVID-19 pandemic. In the present study, participants were divided into higher and lower ATs groups. The generalized linear models were used to estimate the effects of the independent variables (e.g. the COVID-19 pandemic status (before, during), gender (male, female), and AT groups (higher ATs, lower ATs) and their interactions on emotions measured by the Positive and Negative Affect scales. The results showed that the COVID-19 pandemic reduced positive emotions and increased fear and anger. Furthermore, compared with the status before the COVID-19 pandemic, individuals with higher ATs and females experienced stronger anger and fear than individuals with lower ATs and males during the pandemic. The present study revealed the emotional impacts of the COVID-19 pandemic and greater emotional susceptibility to the pandemic among individuals with higher ATs and females. Our findings provide prospective evidence for understanding the ASD/ATs-related enhanced response to pathogen threat-related stressors and have implications for COVID-19 crisis interventions.

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