1. Bast N, Mason L, Ecker C, Baumeister S, Banaschewski T, Jones EJH, Murphy DGM, Buitelaar JK, Loth E, Pandina G, Freitag CM. Sensory salience processing moderates attenuated gazes on faces in autism spectrum disorder: a case-control study. Molecular autism. 2023; 14(1): 5.

BACKGROUND: Attenuated social attention is a key marker of autism spectrum disorder (ASD). Recent neuroimaging findings also emphasize an altered processing of sensory salience in ASD. The locus coeruleus-norepinephrine system (LC-NE) has been established as a modulator of this sensory salience processing (SSP). We tested the hypothesis that altered LC-NE functioning contributes to different SSP and results in diverging social attention in ASD. METHODS: We analyzed the baseline eye-tracking data of the EU-AIMS Longitudinal European Autism Project (LEAP) for subgroups of autistic participants (n = 166, age = 6-30 years, IQ = 61-138, gender [female/male] = 41/125) or neurotypical development (TD; n = 166, age = 6-30 years, IQ = 63-138, gender [female/male] = 49/117) that were matched for demographic variables and data quality. Participants watched brief movie scenes (k = 85) depicting humans in social situations (human) or without humans (non-human). SSP was estimated by gazes on physical and motion salience and a corresponding pupillary response that indexes phasic activity of the LC-NE. Social attention is estimated by gazes on faces via manual areas of interest definition. SSP is compared between groups and related to social attention by linear mixed models that consider temporal dynamics within scenes. Models are controlled for comorbid psychopathology, gaze behavior, and luminance. RESULTS: We found no group differences in gazes on salience, whereas pupillary responses were associated with altered gazes on physical and motion salience. In ASD compared to TD, we observed pupillary responses that were higher for non-human scenes and lower for human scenes. In ASD, we observed lower gazes on faces across the duration of the scenes. Crucially, this different social attention was influenced by gazes on physical salience and moderated by pupillary responses. LIMITATIONS: The naturalistic study design precluded experimental manipulations and stimulus control, while effect sizes were small to moderate. Covariate effects of age and IQ indicate that the findings differ between age and developmental subgroups. CONCLUSIONS: Pupillary responses as a proxy of LC-NE phasic activity during visual attention are suggested to modulate sensory salience processing and contribute to attenuated social attention in ASD.

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2. Brara HS, Royse KE, Fennessy J, Harris JE, Guppy KH. Lateral Mass Screws Versus Pedicle Screws at C7 – Reoperation Rates for Adjacent Segment Disease (Operative ASD) and Nonunions (Operative Nonunions) in Posterior Cervical Fusions. Spine. 2023.

STUDY DESIGN: A retrospective cohort study. OBJECTIVE: To determine if there a difference in reoperation rates for symptomatic adjacent segment disease (operative ASD) and symptomatic nonunions (operative nonunions) in posterior cervical fusions (PCFs) stopping at C7 using either lateral mass screws (LMS) or cervical pedicle screws (CPS) at C7. SUMMARY OF BACKGROUND DATA: Stopping PCFs at C7 has been controversial because of the risks of adjacent segment disease or nonunions. The two commonly used fixation techniques at the C7 level are LMS and CPS. METHODS: A retrospective analysis from the Kaiser Permanente Spine Registry identified a cohort of patients with cervical degenerative disc disease who underwent primary PCFs stopping at C7 with either LMS or CPS at C7. Demographic and operative data were extracted from the registry and operative ASD and operative nonunions were adjudicated via chart review. Patients were followed until validated operative ASD or nonunion, membership termination, death, or end of study (03/31/2022). Descriptive statistics and multivariable Cox proportional hazards models were calculated for operative ASDs and operative nonunions. RESULTS: We found 481 patients with PCFs stopping at C7 with either LMS (n=347) or CPS (n=134) at C7 with average follow-up time of 5.6 (±3.8) years, time to operative ASD of 3.0 (±2.8) years and to operative nonunion of 1.2 (±0.7) years. There were 11 operative ASDs (LMS=8, CPS=3) and 8 operative nonunions (LMS=4, CPS=4). There was no statistical difference between patients stopping at C7 with LMS versus CPS for operative ASDs (HR: 0.68, 95% CI=0.17-2.77, P=0.60) or operative nonunions (HR: 2.09, 95% CI=0.45-8.58, P=0.37). CONCLUSION: A large cohort of patients with PCFs stopping at C7 with an average follow-up of > 5 years found no statistical difference in reoperation rates for symptomatic ASD (operative ASD) or operative nonunion using either LMS or CPS at C7.

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3. Field SL, Fox JRE, Jones CRG, Williams MO. « Work WITH us »: a Delphi study about improving eating disorder treatment for autistic women with anorexia nervosa. Journal of eating disorders. 2023; 11(1): 17.

BACKGROUND: There is an increased prevalence of anorexia nervosa (AN) in autistic women and this group has poorer treatment outcomes compared to non-autistic women with AN. However, there is little research into improving eating disorder treatment for autistic women. This study investigated how best to support autistic women with AN within eating disorder services. METHOD: A three-stage Delphi study was conducted with 49 participants with relevant expertise as a researcher, clinician, or expert by experience. RESULTS: A total of 70 statements were generated, with 56 reaching consensus after the final round. Statements reaching consensus made recommendations for adaptations to treatment, staff training, and service organisation. CONCLUSIONS: The results highlight the need to distinguish between autism- and AN-related difficulties, accommodate autistic traits such as sensory sensitivities and communication differences, and ensure the autistic voice is present in both the development and delivery of care. Future research should investigate the impact of these adaptations on outcomes. The applicability of these recommendations to autistic people with other eating disorders and of other genders needs to be investigated further. Autistic women are more likely to have anorexia nervosa (AN) than non-autistic women. Autistic women can find eating disorder treatment unhelpful and need adaptations to treatment. This study asked a group of 49 researchers, staff, and people with personal experience of autism and eating disorders what they thought would help autistic women with AN. The study used a Delphi study method, which allows the calculation of how much participants agree without them needing to meet and make a decision. The study created 56 suggestions that the participants agreed on. The results give suggestions for changing treatment, training staff, and changing how services work to be better for autistic women. The suggestions highlight the importance of being able to tell the difference between autism- and AN- related behaviour, adjusting care to accommodate autistic traits, and involving autistic people in the development of care. Many of the suggestions recommend that changes are flexible to the individual autistic person. In the future, research should check if these changes are helpful for autistic women with AN, and if they would be helpful for autistic people who are not female or have other eating disorders. eng.

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4. Greaves-Lord K, Skuse D, Mandy W. Innovations of the ICD-11 in the Field of Autism Spectrum Disorder: A Psychological Approach. Clinical psychology in Europe. 2022; 4(Spec Issue): e10005.

BACKGROUND: This article aims to explain and elaborate upon the recently released ICD-11 criteria for Autism Spectrum Disorder (ASD, World Health Organization), which endorse a medical model. METHOD: We integrate insights from several disciplines (e.g., psychology, linguistics, sociology and lived experiences) to reflect the scientific and ethical insights derived from the biopsychosocial, neurodiversity perspective on autism. RESULTS: First, we describe the core domains of ASD’s behavioural characteristics and then the lifetime, developmental perspective on the manifestations of these behaviours. Subsequently, we discuss potential underlying neuropsychology, related behaviours (i.e. associated features/conditions) and we consider some similarities and differences with the Diagnostic and Statistical Manual of Mental Disorders Fifth Edition (DSM 5, American Psychological Association). CONCLUSIONS: Recommendations for clinical application are provided. For instance, diagnostic classification in clinical practise should be a means to provide proper, suitable care, and therefore all diagnostic assessments should be used to tailor interventions and/or care to the capacities and genuine needs of the people that ask for professional help.

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5. Li C, Chen W, Li X, Li T, Chen Y, Zhang C, Ning M, Wang X. Gray matter asymmetry atypical patterns in subgrouping minors with autism based on core symptoms. Frontiers in neuroscience. 2022; 16: 1077908.

Abnormal gray matter (GM) asymmetry has been verified in autism spectrum disorder (ASD), which is characterized by high heterogeneity. ASD is distinguished by three core symptom domains. Previous neuroimaging studies have offered support for divergent neural substrates of different core symptom domains in ASD. However, no previous study has explored GM asymmetry alterations underlying different core symptom domains. This study sought to clarify atypical GM asymmetry patterns underlying three core symptom domains in ASD with a large sample of 230 minors with ASD (ages 7-18 years) and 274 matched TD controls from the Autism Brain Imaging Data Exchange I (ABIDE I) repository. To this end, the scores of the revised autism diagnostic interview (ADI-R) subscales were normalized for grouping ASD into three core-symptom-defined subgroups: social interaction (SI), verbal communication (VA), and restricted repetitive behaviors (RRB). We investigated core-symptom-related GM asymmetry alterations in ASD resulting from advanced voxel-based morphometry (VBM) by general linear models. We also examined the relationship between GM asymmetry and age and between GM asymmetry and symptom severity assessed by the Autism Diagnostic Observation Schedule (ADOS). We found unique GM asymmetry alterations underlying three core-symptom-defined subgroups in ASD: more rightward asymmetry in the thalamus for SI, less rightward asymmetry in the superior temporal gyrus, anterior cingulate and caudate for VA, and less rightward asymmetry in the middle and inferior frontal gyrus for RRB. Furthermore, the asymmetry indexes in the thalamus were negatively associated with ADOS_SOCIAL scores in the general ASD group. We also showed significant correlations between GM asymmetry and age in ASD and TD individuals. Our results support the theory that each core symptom domain of ASD may have independent etiological and neurobiological underpinnings, which is essential for the interpretation of heterogeneity and the future diagnosis and treatment of ASD.

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6. Li H, Xu Y, Li W, Zhang L, Zhang X, Li B, Chen Y, Wang X, Zhu C. Novel insights into the immune cell landscape and gene signatures in autism spectrum disorder by bioinformatics and clinical analysis. Frontiers in immunology. 2022; 13: 1082950.

The pathogenesis of autism spectrum disorder (ASD) is not well understood, especially in terms of immunity and inflammation, and there are currently no early diagnostic or treatment methods. In this study, we obtained six existing Gene Expression Omnibus transcriptome datasets from the blood of ASD patients. We performed functional enrichment analysis, PPI analysis, CIBERSORT algorithm, and Spearman correlation analysis, with a focus on expression profiling in hub genes and immune cells. We validated that monocytes and nonclassical monocytes were upregulated in the ASD group using peripheral blood (30 children with ASD and 30 age and sex-matched typically developing children) using flow cytometry. The receiver operating characteristic curves (PSMC4 and ALAS2) and analysis stratified by ASD severity (LIlRB1 and CD69) showed that they had predictive value using the « training » and verification groups. Three immune cell types – monocytes, M2 macrophages, and activated dendritic cells – had different degrees of correlation with 15 identified hub genes. In addition, we analyzed the miRNA-mRNA network and agents-gene interactions using miRNA databases (starBase and miRDB) and the DSigDB database. Two miRNAs (miR-342-3p and miR-1321) and 23 agents were linked with ASD. These findings suggest that dysregulation of the immune system may contribute to ASD development, especially dysregulation of monocytes and monocyte-derived cells. ASD-related hub genes may serve as potential predictors for ASD, and the potential ASD-related miRNAs and agents identified here may open up new strategies for the prevention and treatment of ASD.

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7. Mac Giolla Phadraig C, Asimakopoulou K, Faulks D, Van Harten M, Ledger L, Spencer A, Roux S, Cleary C, Daly B, Waldron C. Using realist methods for intervention development to fill a methodological gap: A case study showing the development of an oral hygiene intervention for people with intellectual developmental disabilities. Community dentistry and oral epidemiology. 2023.

BACKGROUND: Realist methods offer a novel approach to intervention design. Such novelty is needed for effective oral health promotion interventions with people with intellectual developmental disabilities (IDD) and their carers because existing interventions are poorly described and lack theoretical underpinning. In this study, the steps between inception and final intervention development are presented, with an aim to expand understanding of how realist theorizing can be used to develop interventions, and to demonstrate theory-driven intervention development in the field of oral health promotion. METHODS: In this intervention development study, the use of realist methods to develop an intervention aiming to improve the oral hygiene of people with IDD is presented. Realist theories (RTs) arising from a mixed synthesis were used to develop the Keep My Teeth intervention. The use of realist theory in intervention development was mapped across seven domains and 18 actions with emphasis on how theory informed key actions. RESULTS: Realist theories informed many but not all actions in the development process. Where gaps arose, this was augmented with other systems of intervention development, such as the Behaviour Change Wheel (BCW) and Behaviour Change Technique (BCT) systems. The resulting intervention and underlying theory are presented using TiDieR criteria. CONCLUSIONS: It is demonstrated how realist methods could be integrated with substantive theory when developing an intervention. RTs enhanced the contextualization of the intervention that was developed but were insufficient in their own right to guide the development process from conception to intervention. This was overcome by augmenting with substantive theory, in this case, using the BCW and BCT behaviour change systems, to select and specify the behaviours that needed to change. In essence, the BCTs guided which techniques to select, while the RTs guided how to develop and intervene. Robust intervention development in the field of oral health promotion is also presented in this study.

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8. Pirinen V, Loukusa S, Dindar K, Mäkinen L, Hurtig T, Jussila K, Mattila ML, Eggers K. A Comprehensive Analysis of Speech Disfluencies in Autistic Young Adults and Control Young Adults: Group Differences in Typical, Stuttering-Like, and Atypical Disfluencies. Journal of speech, language, and hearing research : JSLHR. 2023: 1-17.

PURPOSE: The purpose of this study was to examine the nature of speech disfluencies in autistic young adults and controls by using a wide-range disfluency classification of typical disfluencies (TD; i.e., filled pauses, revisions, abandoned utterances, and multisyllable word and phrase repetitions), stuttering-like disfluencies (SLD; i.e., sound and syllable repetitions, monosyllable word repetitions, prolongations, blocks, and broken words), and atypical disfluencies (AD; i.e., word-final prolongations and repetitions and atypical insertions). METHOD: Thirty-two autistic young adults and 35 controls completed a narrative telling task based on socially complex events. Frequencies of total disfluencies, TD, SLD, AD and stuttering severity were compared between groups. RESULTS: The overall frequency of disfluencies was significantly higher in the autistic group and significant between-group differences were found for all disfluency categories. The autistic group produced significantly more revisions, filled pauses, and abandoned utterances, and each subtype of SLD and AD than the control group. In total, approximately every fourth autistic participants scored at least a very mild severity of stuttering, and every fifth produced more than three SLD per 100 syllables. CONCLUSIONS: Disfluent speech can be challenging for effective communication. This study revealed that the speech of autistic young adults was highly more disfluent than that of the controls. The findings provide information on speech disfluency characteristics in autistic young adults and highlight the importance of evaluating speech disfluency with a wide-range disfluency classification in autistic persons in order to understand their role in overall communication. The results of this study offer tools for SLPs to evaluate and understand the nature of disfluencies in autistic persons.

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9. Richdale AL, Chetcuti L, Hayward SM, Abdullahi I, Morris EMJ, Lawson LP. The impact of sleep quality, fatigue and social well-being on depressive symptomatology in autistic older adolescents and young adults. Autism research : official journal of the International Society for Autism Research. 2023.

Depression and poor sleep quality commonly co-occur with autism, and depression has been associated with loneliness and reduced social support. In non-autistic samples, poor sleep quality and daytime fatigue also contribute to depression. However, the contribution of sleep quality and fatigue to depressive symptoms, and how they interact with social factors to influence depression in autism remain unexplored. Our aim was to examine these relationships in 114 young autistic adults aged 15-25 years (57% male) from the SASLA online, longitudinal study (baseline and 2-year follow-up). Hierarchical multiple regression models examined the association between social well-being (social integration and social contribution; T1), sleep quality (T1, T2), and fatigue (T1, T2) on depression (T1, T2). Two mediation models were conducted on T1 data predicting depression from sleep quality though fatigue and sleep quality through social well-being. Depression and fatigue scores did not change over 2 years, but sleep quality worsened. The T1 regression model was significant (R(2) = 36%) with fatigue and social contribution individually predicting depression symptomatology. The longitudinal regression model was also significant (adjusted R(2) = 57%) with social contribution (T1) as the only significant predictor of depression (T2). Fatigue trended towards mediating the sleep quality-depression relationship, while social well-being was a significant partial mediator of this relationship. Results highlight that sleep quality, fatigue, and social well-being contribute to depression among young autistic adults. Interestingly, fatigue and social well-being were independently associated with depression. Thus, addressing sleep quality and associated fatigue, and social well-being is important when treating depression in autistic individuals.

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10. Sarovic D. Commentary: Autism: A model of neurodevelopmental diversity informed by genomics. Frontiers in psychiatry. 2023; 14: 1113592.

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11. Sharp TH, Elsabbagh M, Pickles A, Bedford R. The subcortical correlates of autistic traits in school-age children: a population-based neuroimaging study. Molecular autism. 2023; 14(1): 6.

BACKGROUND: There is emerging evidence that the neuroanatomy of autism forms a spectrum which extends into the general population. However, whilst several studies have identified cortical morphology correlates of autistic traits, it is not established whether morphological differences are present in the subcortical structures of the brain. Additionally, it is not clear to what extent previously reported structural associations may be confounded by co-occurring psychopathology. To address these questions, we utilised neuroimaging data from the Adolescent Brain Cognitive Development Study to assess whether a measure of autistic traits was associated with differences in child subcortical morphology, and if any observed differences persisted after adjustment for child internalising and externalising symptoms. METHODS: Our analyses included data from 7005 children aged 9-10 years (female: 47.19%) participating in the Adolescent Brain Cognitive Development Study. Autistic traits were assessed using scores from the Social Responsiveness Scale (SRS). Volumes of subcortical regions of interest were derived from structural magnetic resonance imaging data. RESULTS: Overall, we did not find strong evidence for an association of autistic traits with differences in subcortical morphology in this sample of school-aged children. Whilst lower absolute volumes of the nucleus accumbens and putamen were associated with higher scores of autistic traits, these differences did not persist once a global measure of brain size was accounted for. LIMITATIONS: It is important to note that autistic traits were assessed using the SRS, of which higher scores are associated with general behavioural problems, and therefore may not be wholly indicative of autism-specific symptoms. In addition, individuals with a moderate or severe autism diagnosis were excluded from the ABCD study, and thus, the average level of autistic traits will be lower than in the general population which may bias findings towards the null. CONCLUSIONS: These findings from our well-powered study suggest that other metrics of brain morphology, such as cortical morphology or shape-based phenotypes, may be stronger candidates to prioritise when attempting to identify robust neuromarkers of autistic traits.

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12. Zhang K, Fu Z, Lai Q, Zhao Y, Liu J, Cao Q. The shared white matter developmental trajectory anomalies of attention-deficit/hyperactivity disorder and autism spectrum disorders: A meta-analysis of diffusion tensor imaging studies. Progress in neuro-psychopharmacology & biological psychiatry. 2023: 110731.

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) show common brain area abnormalities, which may contribute to the high shared co-occurrence symptoms and comorbidity of the two disorders. However, neuroanatomic anomalies in neurodevelopmental disorders may change over the course of development, and the developmental variation of these two disorders is unclear. Our study conducted a systematic literature search of PubMed, Web of Science, and EMBASE databases to identify disorder-shared abnormalities of white matter (WM) from childhood to adulthood in ADHD and ASD. 28 ADHD and 23 ASD datasets were included in this meta-analysis and were analysed by AES-SDM to detect differences in fractional anisotropy in patients compared to typically developing individuals. Our main findings reveal the variable WM developmental trajectories in ADHD and ASD respectively, and the two disorders showed overlapping corpus callosum tract abnormalities in their development from children to adults. Furthermore, the overlapping abnormalities of the corpus callosum tract increased with age, which may be related to their gradually increasing shared symptoms and comorbidity in these two disorders.

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13. Zhu GQ, Dong P, Li DY, Hu CC, Li HP, Lu P, Pan XX, He LL, Xu X, Xu Q. Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review. BMC medical genomics. 2023; 16(1): 22.

BACKGROUND: Lamb-Shaffer syndrome (LAMSHF, MIM 616,803) is a rare neurodevelopmental disorder due to haploinsufficiency of SOX5. Furthermore, studies about the clinical features of LAMSHF patients with same allele of c.1477C > T (p. R493*) are very limited. CASE PRESENTATION: We analyzed the phenotypes of one of our cases and two previously reported cases with c.1477C > T (p. R493*), and reviewed the correlating literature. A de novo heterozygous variation c.1477C > T (p. R493*) in SOX5 was identified in a 4 years and 2 months old boy with global development delay by trio-based whole exome sequencing. We compared our case and previously 2 cases reported with recurrent variation, the overlapping clinical features are global developmental delay or intellectual disability, language delay and scoliosis, but their other clinical characteristics are different. CONCLUSIONS: This study suggests that the clinical features of LAMSHF patients with recurrent variations in the SOX5 gene are different. It is suggested that the LAMSHF-related SOX5 gene should be screened and included as one of the candidate genes for neurodevelopmental disorders of unknown etiology.

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