1. Buckle KL, Leadbitter K, Poliakoff E, Gowen E. « No Way Out Except From External Intervention »: First-Hand Accounts of Autistic Inertia. Frontiers in psychology. 2021; 12: 631596.

This study, called for by autistic people and led by an autistic researcher, is the first to explore ‘autistic inertia,’ a widespread and often debilitating difficulty acting on their intentions. Previous research has considered initiation only in the context of social interaction or experimental conditions. This study is unique in considering difficulty initiating tasks of any type in real life settings, and by gathering qualitative data directly from autistic people. Four face-to-face and 2 online (text) focus groups were conducted with 32 autistic adults (19 female, 8 male, and 5 other), aged 23-64 who were able to express their internal experiences in words. They articulate in detail the actions they have difficulty with, what makes it easier or harder to act, and the impact on their lives. Thematic analysis of the transcripts found four overarching themes: descriptions of inertia, scaffolding to support action, the influence of wellbeing, and the impact on day-to-day activities. Participants described difficulty starting, stopping and changing activities that was not within their conscious control. While difficulty with planning was common, a subset of participants described a profound impairment in initiating even simple actions more suggestive of a movement disorder. Prompting and compatible activity in the environment promoted action, while mental health difficulties and stress exacerbated difficulties. Inertia had pervasive effects on participants’ day-to-day activities and wellbeing. This overdue research opens the door to many areas of further investigation to better understand autistic inertia and effective support strategies.

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2. Caron V, Jeanneret N, Giroux M, Guerrero L, Ouimet M, Forgeot d’Arc B, Soulières I, Courcy I. Sociocultural context and autistics’ quality of life: A comparison between Québec and France. Autism : the international journal of research and practice. 2022; 26(4): 900-13.

What is already known about the topic? Quality of life refers to how people perceive aspects of their life such as physical health, material security, and interpersonal relationships. Studies have reported lower quality of life among autistic individuals than in the general population.What does this article contribute? This article contributes to a better understanding of quality of life and its measures from the point of view of autistic adults. By comparing two groups of French-speaking autistic adults from two different places (France and Québec-Canada), this research shows that the perception of quality of life and its determining factors differ for autistic adults living in each country. The Québec group reported a superior quality of life, and some quality of life predictors were different in each group. The social experience of autism-related stigmatization, however, was a powerful predictor of quality of life for all.Implications for practice, research, and policy To promote a higher quality of life for autistic people, it is important to consider the sociocultural context and implement awareness programs and public campaigns aimed at identifying and countering stigmatization processes.

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3. DiCriscio AS, Smith J, Troiani V. Comprehensive Assessment of Visual Perceptual Skills in Autism Spectrum Disorder. Frontiers in psychology. 2021; 12: 662808.

The purpose of the current study was to assess meaningful variability in visual-perceptual skills using a standardized assessment of visual perception, the Test of Visual Perceptual Skills (TVPS), across children with and without autism spectrum disorder (ASD). In addition to assessing overall accuracy across subtests of the TVPS, we also assessed response variability at the item-level, and the linear relationship between quantitative measures of ASD symptoms, task performance, and item-level variance. We report a significant linear relationship between ASD features and performance on the TVPS Figure Ground subtest. Additionally, results of an item-level analysis point to a significant relationship between within-task variability on the Figure Ground subtest and quantitative ASD traits, with a less variable response pattern being associated with increased ASD symptoms. Findings presented here suggest variability in perceptual processing across ASD may be influenced by individual differences in trait distribution.

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4. Egarr R, Storey C. Model Teachers or Model Students? A Comparison of Video Modelling Interventions for Improving Reading Fluency and Comprehension in Children with Autism. Journal of autism and developmental disorders. 2021.

Video modelling (VM) interventions have been used to improve the fluency of individuals with learning disabilities and reading difficulties; this study aimed to replicate these findings with autism spectrum disorder (ASD) students. Four children with ASD (aged between 8 and 15) experienced two VM interventions, across 10 sessions, during an alternating treatments design: VM using a teacher model, and feedforward video self-modelling (FFVSM) where the student acted as the model. For two participants, FFVSM was found to be an effective intervention but overall, results for both interventions were inconsistent with previous research. Talking Mats Interviews were used to include these individuals within the social validation process of behavioural research.

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5. Fombonne E, Coppola L, Mastel S, O’Roak BJ. Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort. Journal of autism and developmental disorders. 2021.

The SPARK cohort was established to facilitate recruitment in studies of large numbers of participants with autism spectrum disorder (ASD). Online registration requires participants to have received a lifetime professional diagnosis by health or school providers although diagnoses are not independently verified. This study was set to examine the validity of self- and caregiver-reported autism diagnoses. Electronic medical records (EMR) of 254 SPARK participants (77.6% male, age 10.7 years) were abstracted. Using two different methods, confirmation of ASD diagnosis in EMRs was obtained in 98.8% of cases. Core clinical features recorded in EMRs were typical of autism samples and showed very good agreement with SPARK cohort data, providing further evidence of the validity of clinical information in the SPARK database.

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6. He JL, Oeltzschner G, Mikkelsen M, Deronda A, Harris AD, Crocetti D, Wodka EL, Mostofsky SH, Edden RAE, Puts NAJ. Region-specific elevations of glutamate + glutamine correlate with the sensory symptoms of autism spectrum disorders. Translational psychiatry. 2021; 11(1): 411.

Individuals on the autism spectrum are often reported as being hyper- and/or hyporeactive to sensory input. These sensory symptoms were one of the key observations that led to the development of the altered excitation-inhibition (E-I) model of autism, which posits that an increase ratio of excitatory to inhibitory signaling may explain certain phenotypical expressions of autism spectrum disorders (ASD). While there has been strong support for the altered E-I model of autism, much of the evidence has come from animal models. With regard to in-vivo human studies, evidence for altered E-I balance in ASD come from studies adopting magnetic resonance spectroscopy (MRS). Spectral-edited MRS can be used to provide measures of the levels of GABA + (GABA + macromolecules) and Glx (glutamate + glutamine) in specific brain regions as proxy markers of inhibition and excitation respectively. In the current study, we found region-specific elevations of Glx in the primary sensorimotor cortex (SM1) in ASD. There were no group differences of GABA+ in either the SM1 or thalamus. Higher levels of Glx were associated with more parent reported difficulties of sensory hyper- and hyporeactivity, as well as reduced feed-forward inhibition during tactile perception in children with ASD. Critically, the finding of elevated Glx provides strong empirical support for increased excitation in ASD. Our results also provide a clear link between Glx and the sensory symptoms of ASD at both behavioral and perceptual levels.

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7. Kenborg L, Andersen EW, Duun-Henriksen AK, Jepsen JRM, Doser K, Dalton SO, Bidstrup PE, Krøyer A, Frederiksen LE, Johansen C, Østergaard JR, Hove H, Sørensen SA, Riccardi VM, Mulvihill JJ, Winther JF. Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register-based cohort study. American journal of medical genetics Part A. 2021; 185(12): 3706-16.

The aim of this study was to assess the risks of psychiatric disorders in a large cohort of 905 individuals with NF1 and 7614 population comparisons matched on sex and year of birth. The cohort was linked to the Danish Psychiatric Central Research Register to ascertain information on hospital contacts for psychiatric disorders based on the International Classification of Diseases version 8 and 10. The hazard ratio (HR) for a first psychiatric hospital contact was higher in girls (4.19, 95% confidence interval [CI] 1.81-9.69) and boys with NF1 (5.02, 95% CI 3.27-7.69) <7 years of age than in the population comparisons. Both sexes had increased HRs for developmental disorders, including attention deficit/hyperactivity disorders, autism spectrum disorders, and intellectual disabilities in childhood. Females with NF1 had also increased HRs for unipolar depression, other emotional and behavioral disorders, and severe stress reaction and adjustment disorders in early adulthood. The HRs for psychoses, schizophrenia, bipolar disorders, and substance abuse were similar in individuals with NF1 and the population comparisons. Finally, the cumulative incidence of a first hospital contact due to any psychiatric disorder by age 30 years was 35% (95% CI 29-41) in females and 28% (95% CI 19-37) in males with NF1. Thus, screening for psychiatric disorders may be important for early diagnosis and facilitation of appropriate and effective treatment in individuals with NF1.

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8. Kim SY, Cheon JE, Gillespie-Lynch K, Kim YH. Is autism stigma higher in South Korea than the United States? Examining cultural tightness, intergroup bias, and concerns about heredity as contributors to heightened autism stigma. Autism : the international journal of research and practice. 2022; 26(2): 460-72.

Misunderstandings about autism may be more common in South Korea than the United States. Koreans often have clear ideas about how people should act. Another way of saying this is that Korea has a tight culture. Americans are looser, meaning people are freer to act as they like. Autistic people often do not act as people expect them to. This makes autistic people stand out. Autistic people may stand out more in tight cultures like South Korea. We studied how people in South Korea and the United States feel about autism. We wanted to see why Korean people might reject autistic people more than people in the United States do. American and Korean people did online surveys. Koreans said they did not want to get close to autistic people more than Americans did. People who understood autism and had met and liked autistic people wanted to get closer to autistic people. We were surprised to learn that Americans said having an autistic brother or sister makes it harder to find a romantic partner more than Korean people did. People who believed that autism makes it harder for family members to find love did not want to get very close to autistic people. Koreans said people should act as expected more than Americans did. People who believed that acting as expected was important did not want to get very close to autistic people. Teaching people that there are many ways of being a good person may help them understand and appreciate autistic people.

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9. Polushina T, Banerjee N, Giddaluru S, Bettella F, Espeseth T, Lundervold AJ, Djurovic S, Cichon S, Hoffmann P, Nöthen MM, Steen VM, Andreassen OA, Le Hellard S. Identification of pleiotropy at the gene level between psychiatric disorders and related traits. Translational psychiatry. 2021; 11(1): 410.

Major mental disorders are highly prevalent and make a substantial contribution to the global disease burden. It is known that mental disorders share clinical characteristics, and genome-wide association studies (GWASs) have recently provided evidence for shared genetic factors as well. Genetic overlaps are usually identified at the single-marker level. Here, we aimed to identify genetic overlaps at the gene level between 7 mental disorders (schizophrenia, autism spectrum disorder, major depressive disorder, anorexia nervosa, ADHD, bipolar disorder and anxiety), 8 brain morphometric traits, 2 cognitive traits (educational attainment and general cognitive function) and 9 personality traits (subjective well-being, depressive symptoms, neuroticism, extraversion, openness to experience, agreeableness and conscientiousness, children’s aggressive behaviour, loneliness) based on publicly available GWASs. We performed systematic conditional regression analyses to identify independent signals and select loci associated with more than one trait. We identified 48 genes containing independent markers associated with several traits (pleiotropy at the gene level). We also report 9 genes with different markers that show independent associations with single traits (allelic heterogeneity). This study demonstrates that mental disorders and related traits do show pleiotropy at the gene level as well as the single-marker level. The identification of these genes might be important for prioritizing further deep genotyping, functional studies, or drug targeting.

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10. Redondo Pedregal C, Heaton P. Autism, music and Alexithymia: A musical intervention to enhance emotion recognition in adolescents with ASD. Research in developmental disabilities. 2021; 116: 104040.

BACKGROUND: Difficulties identifying and describing emotions in Autism Spectrum Disorder (ASD) have been linked with an increased prevalence of Type 2 Alexithymia. Alexithymia is associated with difficulties in interpreting and verbally labelling physiological arousal. Children and adults with ASD show typical patterns of physiological arousal to music and can attribute verbal labels to musical emotions. AIM: This pilot study aimed to develop a music-based intervention to improve facial and vocal emotion recognition (ER) and Alexithymia in adolescents with ASD. METHODS AND PROCEDURES: Adolescents with ASD completed 5 music sessions and pre and post-tests of Alexithymia, ER and language. Each intervention began with a researcher-led group analysis of the emotions expressed in a series of musical excerpts, followed by a group-led discussion of the participants’ experiences of these emotions and the ways they may be communicated. Finally, the likely causes and outward expression of these emotions were discussed. OUTCOME AND RESULTS: Results showed that at pre-test, chronological age (CA) and receptive vocabulary were significantly associated with recognition of facial and verbal emotions and Not hiding emotions. At post-test, older children showed a greater increase in recognition of voices and in emotional bodily awareness. Correlations suggested a trend towards increased ER in voices and faces in children with lower language scores. CONCLUSIONS AND IMPLICATIONS: Music-based interventions may enhance ER in adolescents with ASD and Alexithymia. Limitations and recommendations for future investigations are discussed.

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11. Rinehart B, Poon CS, Sunar U. Quantification of perfusion and metabolism in an autism mouse model assessed by diffuse correlation spectroscopy and near-infrared spectroscopy. Journal of biophotonics. 2021; 14(11): e202000454.

There is a need for quantitative biomarkers for early diagnosis of autism. Cerebral blood flow and oxidative metabolism parameters may show superior contrasts for improved characterization. Diffuse correlation spectroscopy (DCS) has been shown to be reliable method to obtain cerebral blood flow contrast in animals and humans. Thus, in this study, we evaluated the combination of DCS and fNIRS in an established autism mouse model. Our results indicate that autistic group had significantly (P = .001) lower (~40%) blood flow (1.16 ± 0.26) × 10(-8) cm(2) /s), and significantly (P = .015) lower (~70%) oxidative metabolism (52.4 ± 16.6 μmol/100 g/min) compared to control group ([1.93 ± 0.74] × 10(-8) cm(2) /s, 177.2 ± 45.8 μmol/100 g/min, respectively). These results suggest that the combination of DCS and fNIRS can provide hemodynamic and metabolic contrasts for in vivo assessment of autism pathological conditions noninvasively.

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12. Subrahmanyam R, Dwivedi D, Rashid Z, Bonnycastle K, Cousin MA, Chattarji S. Reciprocal regulation of spontaneous synaptic vesicle fusion by Fragile X mental retardation protein and group I metabotropic glutamate receptors. Journal of neurochemistry. 2021; 158(5): 1094-109.

Fragile X mental retardation protein (FMRP) is a neuronal protein mediating multiple functions, with its absence resulting in one of the most common monogenic causes of autism, Fragile X syndrome (FXS). Analyses of FXS pathophysiology have identified a range of aberrations in synaptic signaling pathways and plasticity associated with group I metabotropic glutamate (mGlu) receptors. These studies, however, have mostly focused on the post-synaptic functions of FMRP and mGlu receptor activation, and relatively little is known about their presynaptic effects. Neurotransmitter release is mediated via multiple forms of synaptic vesicle (SV) fusion, each of which contributes to specific neuronal functions. The impacts of mGlu receptor activation and loss of FMRP on these SV fusion events remain unexplored. Here we combined electrophysiological and fluorescence imaging analyses on primary hippocampal cultures prepared from an Fmr1 knockout (KO) rat model. Compared to wild-type (WT) hippocampal neurons, KO neurons displayed an increase in the frequency of spontaneous excitatory post-synaptic currents (sEPSCs), as well as spontaneous SV fusion events. Pharmacological activation of mGlu receptors in WT neurons caused a similar increase in spontaneous SV fusion and sEPSC frequency. Notably, this increase in SV fusion was not observed when spontaneous activity was blocked using the sodium channel antagonist tetrodotoxin. Importantly, the effect of mGlu receptor activation on spontaneous SV fusion was occluded in Fmr1 KO neurons. Together, our results reveal that FMRP represses spontaneous presynaptic SV fusion, whereas mGlu receptor activation increases this event. This reciprocal control appears to be mediated via their regulation of intrinsic neuronal excitability.

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13. Waterhouse L. The problem of heterogeneity in autism: Response to Mottron (2021) « Aradical change in our autism research strategy is needed: Back to prototypes ». Autism research : official journal of the International Society for Autism Research. 2021.

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14. Wilson M, Whelan T, Milne L, Hamilton D, Jacobs D, Pilkington P. A thematic analysis of influences on parents’ autism intervention decisions. Research in developmental disabilities. 2021; 117: 104035.

BACKGROUND: Factors impacting parents’ selection of interventions for their child on the autism spectrum need to be understood in order to better support decision-making. The aim of the current study was to explore parent-reported influences on decisions. METHOD: A sample of 14 Australian parents (13 mothers; 1 father) of a child (4-11 years) diagnosed on the autism spectrum were interviewed about their decisions regarding the use of interventions. A thematic analysis was used to identify prominent themes. FINDINGS: A total of three themes, comprising 11 subthemes were identified. The primary themes were: finding interventions; meeting child and family needs; and acceptability and access. CONCLUSION: Parents’ responses highlighted influences on decisions to use evidence-based practices (e.g., behavioural therapies and social skills programs), as well as those with limited empirical support (e.g., animal-assisted therapy and dietary intervention). Influences frequently reported in extant research were reported by parents in this study (e.g., recommendations, logistics of access, and children’s individual needs) as well as issues that warrant further investigation (e.g., coping with challenges and stress, importance of intervention intensity, and consideration of the whole family).

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15. Yılmaz B, Azak M, Şahin N. Mental health of parents of children with autism spectrum disorder during COVID-19 pandemic: A systematic review. World journal of psychiatry. 2021; 11(7): 388-402.

BACKGROUND: Children diagnosed with autism spectrum disorder (ASD) may have great difficulties when their routines change, and this may affect the psychological well-being of their parents. For this reason, it is important to examine studies that address the mental health of parents in order to adapt to the coronavirus disease 2019 (COVID-19) pandemic. AIM: To determine the mental health status of parents with children diagnosed with ASD in the COVID-19 pandemic. METHODS: The study, which is a systematic review, was conducted between December 15, 2020 and December 30, 2020 by scanning articles in English. The Scopus, Science Direct, PubMed, Cochrane, Web of Science, and Google Scholar databases were used for scanning. The keywords COVID-19 AND (« autism » OR « autistic » OR « autism spectrum disorder ») AND parent AND (« mental health » OR « anxiety » OR « stress ») were used in the search process. The inclusion criteria in the study were findings regarding the mental health of parents with children diagnosed with ASD in the COVID-19 pandemic, addressing their anxiety and stress situations, being a research article, and accessing the full text of the article. RESULTS: In the study, a total of 6389 articles were reached, and the full texts of 173 articles were evaluated for eligibility. After the articles excluded by the full-text search were eliminated, 12 studies involving 7105 parents were included in the analysis. The findings obtained from the articles containing data on mental health in the COVID-19 pandemic of parents with children with autism spectrum disorder were discussed in three groups. These were findings on the experiences of parents with children with ASD in the COVID-19 pandemic regarding the areas where parents with children with ASD need support in the COVID-19 pandemic and methods of coping with the COVID-19 pandemic for parents with children with ASD. In the systematic review, it was determined that the anxiety and stress of the parents increased, they needed more support compared to the pre-pandemic period, and they had difficulty coping. CONCLUSION: In this systematic review, it was concluded that the COVID-19 pandemic negatively affected the mental health of the parents of children with ASD.

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