1. Bircan E, Politis MD, Gokun Y, Luo C, Leonard H, Bourke J, Bower C, Nembhard WN. Intellectual disabilities and autism among children with congenital heart defects, Western Australia, 1983-2010. BMC Pediatr;2023 (Mar 4);23(1):106.

BACKGROUND: Children with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs. METHODS: We conducted a retrospective cohort study of singleton live births in Western Australia (n = 20,592) between 1983 and 2010. Children with CHDs were identified from the Western Australian Register for Developmental Anomalies (n = 6563) and infants without CHDs were randomly selected from state birth records (n = 14,029). Children diagnosed with ID before 18 years were identified by linkage to statewide Intellectual Disability Exploring Answers database. Odds ratios (OR) and 95% confidence intervals (CI) were calculated from logistic regression models for all CHDs combined and by CHD severity adjusting for potential confounders. RESULTS: Of 20,592 children, 466 (7.1%) with CHDs and 187 (1.3%) without CHDs had an ID. Compared to children without CHDs, children with any CHD had 5.26 times (95% CI 4.42, 6.26) the odds of having an ID and 4.76 times (95% CI 3.98, 5.70) the odds of having mild/moderate ID. Children with any CHD had 1.76 times the odds of having autism (95% CI 1.07, 2.88), and 3.27 times the odds of having an unknown cause of ID (95% CI 2.65, 4.05) compared to children without CHD. The risk of having autism (aOR 3.23, 95% CI 1.11, 9.38), and unknown cause of ID (aOR 3.45, 95% CI 2.09, 5.70) was greatest for children with mild CHD. CONCLUSIONS: Children with CHDs were more likely to have an ID or autism. Future research should elucidate underlying etiology of ID in children with CHDs.

Lien vers le texte intégral (Open Access ou abonnement)

2. Klusek J, Will E, Moser C, Hills K, Thurman AJ, Abbeduto L, Roberts JE. Predictors, Parental Views, and Concordance Across Diagnostic Sources of Autism in Male Youth with Fragile X Syndrome: Clinical Best Estimate and Community Diagnoses. Res Child Adolesc Psychopathol;2023 (Mar 3)

Persons with fragile X syndrome (FXS) with cooccurring autism spectrum disorder (ASD) are at risk for poorer educational, medical, employment, and independent living outcomes. Thus, the identification of ASD in those with FXS is fundamental to ensuring access to appropriate supports to achieve good quality of life. Yet, optimal diagnostic methods and the exact rate of ASD comorbidity remains controversial, and description of ASD identification in the community in FXS has been limited. This study characterized ASD in a sample of 49 male youth with FXS across multiple diagnostic sources: parent-reported community diagnoses, classification derived from ADOS-2 and ADI-R thresholds, and clinical best-estimate classifications from an expert multidisciplinary team. High concordance was found between ADOS-2/ADI-R and clinical best estimate classifications, with both methods supporting ASD in ~ 75% of male youth with FXS. In contrast, 31% had a community diagnosis. Findings supported gross under-identification of ASD in male youth with FXS in community settings; 60% of those who met clinical best estimate criteria for ASD had not received a diagnosis in the community. Moreover, community diagnoses were poorly aligned with the presence of ASD symptoms as perceived by parents and professionals and, unlike clinical best estimate diagnoses, were not associated with cognitive, behavioral, or language features. Findings highlight under-identification of ASD in community settings as a significant barrier to service access for male youth with FXS. Clinical recommendations should emphasize the benefits of seeking a professional ASD evaluation for children with FXS who are noted to display key ASD symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

3. Lo Bosco MC. ‘Bodies that never grow’: How psychiatric understanding of autism spectrum disorders affects autistic people’s bodily experience of gender, ageing, and sexual desire. J Aging Stud;2023 (Mar);64:101101.

This paper investigates the intersections of gender, sexuality, ageing in the way autism spectrum disorder is medically described as a discrete category. On one hand, the construction of autism as a male-centric phenomenon results in a significant gender gap in autism diagnosis, with girls diagnosed with autism significantly less and later than boys. On the other hand, the focus on depicting autism as a pediatric condition exposes adult autistics to discriminatory practices such as infantilization and contributes to the disregard of their sexual desires or to the misconception of their sexual behaviors as dangerous or inappropriate. Both infantilization and the supposed inability of autistic people to « fit » into adulthood have a significant impact on both sexuality’s expressions and ageing experiences. My study suggests how fostering knowledge and further learning on the infantilization of autism can bring important insight into understanding disability from a critical angle. By challenging normative notions of gender, ageing, and sexuality, autistic people’s different bodily experiences question medical authority and social politics and criticize the public representation of autism in the broader social space.

Lien vers le texte intégral (Open Access ou abonnement)

4. Marsack-Topolewski C, Milberger S, Janks E, Anderson N, Bray M, Samuel PS. Evaluation of peer-mediated systems navigation for ageing families of individuals with developmental disabilities. J Intellect Disabil Res;2023 (Mar 3)

BACKGROUND: As individuals with intellectual and developmental disabilities (I/DD) age, services often diminish, with many family caregivers experiencing challenges finding and navigating services. The purpose of this study was to examine the benefits of a state-wide family support project for ageing caregivers (50+) of adults with I/DD in accessing and using services. METHOD: A one-group pre-test-post-test design was used to determine if participation in the MI-OCEAN intervention grounded in the Family Quality of Life (FQOL) theory reduced ageing caregivers’ (n = 82) perceptions of barriers to accessing, using and needing formal services. RESULTS: After participating in the study, there was a reduction in reported barriers to accessing services. There was also greater use and reduced need for 10 of the 23 listed formal services. CONCLUSIONS: Findings indicate that a peer-mediated intervention grounded in FQOL theory can be beneficial in empowering ageing caregivers by reducing perceived barriers to accessing services and increasing their use of advocacy and support services.

Lien vers le texte intégral (Open Access ou abonnement)

5. Martinez-Cayuelas E, Gavela-Pérez T, Rodrigo-Moreno M, Losada-Del Pozo R, Moreno-Vinues B, Garces C, Soriano-Guillén L. Sleep Problems, Circadian Rhythms, and Their Relation to Behavioral Difficulties in Children and Adolescents with Autism Spectrum Disorder. J Autism Dev Disord;2023 (Mar 4)

This was an exploratory cross-sectional study comparing 45 children with ASD to 24 typically developing drug-naïve controls, group-matched on age, sex, and body mass index. Objective data was obtained using the following: an ambulatory circadian monitoring device; saliva samples to determine dim light melatonin onset (DLMO): and three parent-completed measures: the Child Behavior Checklist (CBCL); the Repetitive Behavior Scale-Revised (RBS-R); and the General Health Questionnaire (GHQ28). The CBCL and RBS-R scales showed the highest scores amongst poor sleepers with ASD. Sleep fragmentation was associated with somatic complaints and self-injury, leading to a higher impact on family life. Sleep onset difficulties were associated with withdrawal, anxiety, and depression. Those with phase advanced DLMO had lower scores for « somatic complaints »; « anxious/depressed » state; and « social problems », suggesting that this phenomenon has a protective role.

Lien vers le texte intégral (Open Access ou abonnement)

6. Mattern H, Cola M, Tena KG, Knox A, Russell A, Pelella MR, Hauptmann A, Covello M, Parish-Morris J, McCleery JP. Sex differences in social and emotional insight in youth with and without autism. Mol Autism;2023 (Mar 4);14(1):10.

Autism was formally recognized by the medical community in the first half of the twentieth century. Almost 100 years later, a small but growing literature has reported sex differences in the behavioral expression of autism. Recent research has also begun to explore the internal experiences of individuals with autism, including social and emotional insight. The current study examines sex differences in language-based markers of social and emotional insight in girls and boys with autism and non-autistic peers during semi-structured clinical interviews. Sixty-four participants aged 5 to 17 years were individually matched on chronological age and full-scale IQ to form four groups: autistic girls, autistic boys, non-autistic girls, and non-autistic boys. Transcribed interviews were scored using four scales that index aspects of social and emotional insight. Results revealed the main effects of diagnosis, such that youth with autism exhibited lower insight than non-autistic youth on scales indexing social cognition and object relations, emotional investment, and social causality. With regards to sex differences, across diagnoses, girls were rated higher than boys on the social cognition and object relations, emotional investment, and social causality scales. Examined within each diagnosis separately, clear sex differences emerged: both autistic and non-autistic girls demonstrated better social cognition and understanding of social causality than boys in their respective diagnostic groups. No within-diagnosis sex differences were found on the emotional insight scales, however. These results suggest that relatively enhanced social cognition and understanding of social causality in girls may be a population-level sex difference that is preserved in autism, despite the core social challenges that characterize this condition. The current findings reveal critical new information about insight into social and emotional thinking and relationships in autistic girls versus boys that have important implications for improving identification and designing effective interventions.

Lien vers le texte intégral (Open Access ou abonnement)

7. Mendez AI, Tokish H, McQueen E, Chawla S, Klin A, Maitre NL, Klaiman C. A Comparison of the Clinical Presentation of Preterm Birth and Autism Spectrum Disorder: Commonalities and Distinctions in Children Under 3. Clin Perinatol;2023 (Mar);50(1):81-101.

Premature infants and infants later diagnosed with autism spectrum disorder (ASD) share many commonalities in clinical presentations. However, prematurity and ASD also have differences in clinical presentation. These overlapping phenotypes can lead to misdiagnoses of ASD or missing a diagnosis of ASD in preterm infants. We document these commonalities and differences in various developmental domains with the hope of aiding in the accurate early detection of ASD and timely intervention implementation in children born premature. Given the degree of similarities in presentation, evidence-based interventions designed specifically for preterm toddlers or toddlers with ASD may ultimately aid both populations.

Lien vers le texte intégral (Open Access ou abonnement)

8. Minnigulova A, Davydova E, Pereverzeva D, Sorokin A, Tyushkevich S, Mamokhina U, Danilina K, Dragoy O, Arutiunian V. Corpus callosum organization and its implication to core and co-occurring symptoms of Autism Spectrum Disorder. Brain Struct Funct;2023 (Mar 3)

Autism Spectrum Disorder (ASD) is characterized by social interaction and communication deficits, repetitive behavior and often by co-occurring conditions such as language and non-verbal IQ development delays. Previous studies reported that those behavioral abnormalities can be associated with corpus callosum organization. However, little is known about the specific differences in white matter structure of the corpus callosum parts in children with ASD and TD peers and their relationships to core and co-occurring symptoms of ASD. The aim of the study was to investigate the volumetric and microstructural characteristics of the corpus callosum parts crucially involved in social, language, and non-verbal IQ behavior in primary-school-aged children with ASD and to assess the relationships between these characteristics and behavioral measures. 38 children (19 with ASD and 19 typically developing (TD) controls) were scanned using diffusion-weighted MRI and assessed with behavioral tests. The tractography of the corpus callosum parts were performed using Quantitative Imaging Toolkit software; diffusivity and volumetric measurements were extracted for the analysis. In the ASD group, fractional anisotropy (FA) was decreased across the supplementary motor area and the ventromedial prefrontal cortex, and axial diffusivity (AD) was reduced across each of the corpus callosum parts in comparison to the TD group. Importantly, the AD decrease was related to worse language skills and more severe autistic traits in individuals with ASD. The microstructure of the corpus callosum parts differs between children with and without ASD. Abnormalities in white matter organization of the corpus callosum parts are associated with core and co-occurring symptoms of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

9. Rahmati-Holasoo H, Salek Maghsoudi A, Akbarzade M, Gholami M, Shadboorestan A, Vakhshiteh F, Armandeh M, Hassani S. Oxytocin protective effects on zebrafish larvae models of autism-like spectrum disorder. Iran J Basic Med Sci;2023 (Mar);26(3):316-325.

OBJECTIVES: Autism is a complicated neurodevelopmental disorder characterized by social interaction deficiencies, hyperactivity, anxiety, communication disorders, and a limited range of interests. The zebrafish (Danio rerio) is a social vertebrate used as a biomedical research model to understand social behavior mechanisms. MATERIALS AND METHODS: After spawning, the eggs were exposed to sodium valproate for 48 hr, after which the eggs were divided into eight groups. Except for the positive and control groups, there were six treatment groups based on oxytocin concentration (25, 50, and 100 μM) and time point (24 and 48 hr). Treatment was performed on days 6 and 7, examined by labeling oxytocin with fluorescein-5-isothiocyanate (FITC) and imaging with confocal microscopy and the expression levels of potential genes associated with the qPCR technique. Behavioral studies, including light-dark background preference test, shoaling behavior, mirror test, and social preference, were performed on 10, 11, 12, and 13 days post fertilization (dpf), respectively. RESULTS: The results showed that the most significant effect of oxytocin was at the concentration of 50 μM and the time point of 48 hr. Increased expression of shank3a, shank3b, and oxytocin receptor genes was also significant at this oxytocin concentration. Light-dark background preference results showed that oxytocin in the concentration of 50 µM significantly increased the number of crosses between dark and light areas compared with valproic acid (positive group). Also, oxytocin showed an increase in the frequency and time of contact between the two larvae. We showed a decrease in the distance in the larval group and an increase in time spent at a distance of one centimeter from the mirror. CONCLUSION: Our findings showed that the increased gene expression of shank3a, shank3b, and oxytocin receptors improved autistic behavior. Based on this study some indications showed that oxytocin administration in the larval stage could significantly improve the autism-like spectrum.

Lien vers le texte intégral (Open Access ou abonnement)

10. Thom RP, McDougle CJ. Repetitive Thoughts and Behaviors in Autism Spectrum Disorder: A Symptom-Based Framework for Novel Therapeutics. ACS Chem Neurosci;2023 (Mar 3)

While the core symptoms of autism spectrum disorder include repetitive thoughts and repetitive behaviors, repetitive phenomena also occur in many other psychiatric disorders. Types of repetitive thoughts include preoccupations, ruminations, obsessions, overvalued ideas, and delusions. Types of repetitive behaviors include tics, stereotypies, compulsions, extrapyramidal symptoms, and automatisms. We provide a description of how to recognize and classify different types of repetitive thoughts and behaviors in autism spectrum disorder, providing clarity on which phenomena should be considered a core feature of autism spectrum disorder and which phenomena are indicative of a comorbid psychiatric disorder. Clinical features that can be used to differentiate types of repetitive thoughts include whether they are distressing and the degree of insight the individual has, while repetitive behaviors can be classified based on whether they are voluntary, goal-directed/purposeful, and rhythmic. We present the psychiatric differential diagnosis of repetitive phenomena within the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) framework. Careful clinical consideration of these transdiagnostic features of repetitive thoughts and behaviors can improve diagnostic accuracy and treatment outcomes, and influence future research.

Lien vers le texte intégral (Open Access ou abonnement)