1. Brown CO, Uy J, Singh KK. A mini-review: Bridging the gap between autism spectrum disorder and pain comorbidities. Canadian journal of pain = Revue canadienne de la douleur. 2020; 4(4): 37-44.

BACKGROUND: Pain is a complex neurobiological response with a multitude of causes; however, patients with autism spectrum disorder (ASD) often report chronic pain with no known etiology. Recent research has been aimed toward identifying the causal mechanisms of pain in mouse and human models of ASD. In recent years, efforts have been made to better document and explore secondary phenotypes observed in ASD patients in the clinic. As new sequencing studies have become more powered with larger cohorts within ASD, specific genes and their variants are often left uncharacterized or validated. In this review we highlight ASD risk genes often presented with pain comorbidities. AIMS: This mini-review bridges the gap between two fields of literature, neurodevelopmental disorders and pain research. We discuss the importance of the genetic landscape of ASD and its links to pain phenotypes. RESULTS: Among the numerous genes implicated in ASD, few have been implicated with varying severities of pain comorbidity. Mutations in these genes, such as SCN9A, SHANK3, and CNTNAP2, lead to altered neuronal function that produce different responses to pain, shown in both mouse and human models. CONCLUSION: There is a necessity to use new technologies to advance the current understanding of ASD risk genes and their contributions to pain. Secondly, there is a need to power future ASD risk genes associated with pain with their own cohort, because a better understanding is needed of this subpopulation.

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2. Gagnon D, Zeribi A, Douard É, Courchesne V, Rodríguez-Herreros B, Huguet G, Jacquemont S, Loum MA, Mottron L. Bayonet-shaped language development in autism with regression: a retrospective study. Molecular autism. 2021; 12(1): 35.

BACKGROUND: Language delay is one of the major referral criteria for an autism evaluation. Once an autism spectrum diagnosis is established, the language prognosis is among the main parental concerns. Early language regression (ELR) is observed by 10-50% of parents but its relevance to late language level and socio-communicative ability is uncertain. This study aimed to establish the predictive value of ELR on the progression of language development and socio-communicative outcomes to guide clinicians in addressing parents’ concerns at the time of diagnosis. METHODS: We used socio-communicative, language, and cognitive data of 2,047 autism spectrum participants from the Simons Simplex Collection, aged 4-18 years (mean = 9 years; SD = 3.6). Cox proportional hazard and logistic regression models were used to evaluate the effect of ELR on language milestones and the probability of using complex and flexible language, as defined by the choice of ADOS module at enrollment. Linear models were then used to evaluate the relationship of ELR and non-verbal IQ with socio-communicative and language levels. RESULTS: ELR is associated with earlier language milestones but delayed attainment of fluent, complex, and flexible language. However, this language outcome can be expected for almost all autistic children without intellectual disability at 18 years of age. It is mostly influenced by non-verbal IQ, not ELR. The language and socio-communicative level of participants with flexible language, as measured by the Vineland and ADOS socio-communicative subscales, was not affected by ELR. LIMITATIONS: This study is based on a relatively coarse measure of ultimate language level and relies on retrospective reporting of early language milestones and ELR. It does not prospectively document the age at which language catches up, the relationship between ELR and other behavioral areas of regression, nor the effects of intervention. CONCLUSIONS: For autistic individuals with ELR and a normal level of non-verbal intelligence, language development follows a « bayonet shape » trajectory: early first words followed by regression, a plateau with limited progress, and then language catch up.

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3. Hagerman R, Hagerman P. Fragile X-associated tremor/ataxia syndrome: pathophysiology and management. Current opinion in neurology. 2021; 34(4): 541-6.

PURPOSE OF REVIEW: The purpose of this paper is to review the prevalence, pathophysiology, and management of fragile X-associated tremor/ataxia syndrome (FXTAS). RECENT FINDINGS: The pathophysiology of FXTAS involves ribonucleic acid (RNA) toxicity due to elevated levels of the premutation-expanded CGG (eoxycytidylate-deoxyguanylate-deoxyguanylate)-repeat FMR1 mRNA, which can sequester a variety of proteins important for neuronal function. A recent analysis of the inclusions in FXTAS demonstrates elevated levels of several proteins, including small ubiquitin-related modifiers 1/2 (SUMO1/2), that target molecules for the proteasome, suggesting that some aspect(s) of proteasomal function may be altered in FXTAS. Recent neuropathological studies show that Parkinson disease and Alzheimer disease can sometimes co-occur with FXTAS. Lewy bodies can be found in 10% of the brains of patients with FXTAS. Microbleeds and iron deposition are also common in the neuropathology, in addition to white matter disease (WMD) and atrophy. SUMMARY: The premutation occurs in 1:200 females and 1:400 males. Penetrance for FXTAS increases with age, though lower in females (16%) compared to over 60% of males by age 70. To diagnose FXTAS, an MRI is essential to document the presence of WMD, a primary component of the diagnostic criteria. Pain can be a significant feature of FXTAS and is seen in approximately 50% of patients.

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4. Hunter SJ. Considering mental health and neurodevelopmental outcomes for children born extremely preterm. Developmental medicine and child neurology. 2021; 63(8): 892.

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5. Hurel E, Challet-Bouju G, Chirio-Espitalier M, Vincent M, Grall-Bronnec M. Social communication disorder and behavioural addiction: Case report and clinical implications. Journal of behavioral addictions. 2021; 10(2): 352-60.

BACKGROUND: Social communication disorder (SCD) is a neurodevelopmental disorder that includes communication difficulties. Literature linking SCD and addictions is scarce, and there are only a few case reports regarding the co-occurrence of addiction and autism disorder spectrum, and only one of them addressed behavioural addictions. CASE PRESENTATION: We report MC’s case, who displayed an SCD and sexual addiction (SA). Clinical and neuropsychological evaluations suggested an alteration of social cognition, especially of affective theory of mind. This article also presents the adaptation made of the usual treatment. DISCUSSION: This case report illustrates the importance of social cognition abilities in the development and maintenance of behavioural addictions, and specifically SA. It also highlights the possible comorbidity of these two disorders and the possibility to work on social cognition as an alternate therapy in the treatment of behavioural addictions. CONCLUSIONS: The co-occurrence of SCD and a behavioural addiction triggered clinical adaptations and implications that may affect a patient’s treatment presenting one of these disorders.

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6. Ingalhalikar M, Shinde S, Karmarkar A, Rajan A, Rangaprakash D, Deshpande G. Functional Connectivity-Based Prediction of Autism on Site Harmonized ABIDE Dataset. IEEE transactions on bio-medical engineering. 2021; 68(12): 3628-37.

OBJECTIVE: The larger sample sizes available from multi-site publicly available neuroimaging data repositories makes machine-learning based diagnostic classification of mental disorders more feasible by alleviating the curse of dimensionality. However, since multi-site data are aggregated post-hoc, i.e. they were acquired from different scanners with different acquisition parameters, non-neural inter-site variability may mask inter-group differences that are at least in part neural in origin. Hence, the advantages gained by the larger sample size in the context of machine-learning based diagnostic classification may not be realized. METHODS: We address this issue using harmonization of multi-site neuroimaging data using the ComBat technique, which is based on an empirical Bayes formulation to remove inter-site differences in data distributions, to improve diagnostic classification accuracy. Specifically, we demonstrate this using ABIDE (Autism Brain Imaging Data Exchange) multi-site data for classifying individuals with Autism from healthy controls using resting state fMRI-based functional connectivity data. RESULTS: Our results show that higher classification accuracies across multiple classification models can be obtained (especially for models based on artificial neural networks) from multi-site data post harmonization with the ComBat technique as compared to without harmonization, outperforming earlier results from existing studies using ABIDE. Furthermore, our network ablation analysis facilitated important insights into autism spectrum disorder pathology and the connectivity in networks shown to be important for classification covaried with verbal communication impairments in Autism. CONCLUSION: Multi-site data harmonization using ComBat improves neuroimaging-based diagnostic classification of mental disorders. SIGNIFICANCE: ComBat has the potential to make AI-based clinical decision-support systems more feasible in psychiatry.

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7. Jones K, Gangadharan S, Brigham P, Smith E, Shankar R. Current practice and adaptations being made for people with autism admitted to in-patient psychiatric services across the UK. BJPsych open. 2021; 7(3): e102.

BACKGROUND: A significant number of people with autism require in-patient psychiatric care. Although the requirement to adequately meet the needs of people with autism in these settings is enshrined in UK law and supported by national guidelines, little information is available on current practice. AIMS: To describe characteristics of UK in-patient psychiatric settings admitting people with autism. Also to examine psychiatric units for their suitability, and the resultant impact on admission length and restrictive interventions. METHOD: Multiple-choice questions about in-patient settings and their ability to meet the needs of people with autism and the impact on their outcomes were developed as a cross-sectional study co-designed with a national autism charity. The survey was distributed nationally, using an exponential and non-discriminatory snowballing technique, to in-patient unit clinicians to provide a current practice snapshot. RESULTS: Eighty responses were analysed after excluding duplications, from across the UK. Significant variation between units across all enquired parameters exist. Lack of autism-related training and skills across staff groups was identified, this becoming disproportionate when comparing intellectual disability units with general mental health units particularly regarding psychiatrists working in these units (psychiatrists: 94% specialist skills in intellectual disability units versus 6% specialist skills in general mental health units). In total, 28% of survey respondents felt people with autism are more likely to be subject to seclusion and 40% believed in-patients with autism are likely to end in segregation. CONCLUSIONS: There is no systematic approach to supporting people with autism who are admitted to in-patient psychiatric units. Significant concerns are highlighted of lack of professional training and skill sets resulting in variable clinical practice and care delivery underpinned by policy deficiency. This could account for the reported in-patient outcomes of longer stay and segregation experienced by people with autism.

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8. Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F. Calcium channelopathies and intellectual disability: a systematic review. Orphanet journal of rare diseases. 2021; 16(1): 219.

BACKGROUND: Calcium ions are involved in several human cellular processes including corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual disability (ID)/global developmental delay (GDD) has been poorly investigated. We hypothesised that CCs play a major role in the development of ID/GDD and that both gain- and loss-of-function variants of calcium channel genes can induce ID/GDD. As a result, we performed a systematic review to investigate the contribution of CCs, potential mechanisms underlying their involvement in ID/GDD, advancements in cell and animal models, treatments, brain anomalies in patients with CCs, and the existing gaps in the knowledge. We performed a systematic search in PubMed, Embase, ClinVar, OMIM, ClinGen, Gene Reviews, DECIPHER and LOVD databases to search for articles/records published before March 2021. The following search strategies were employed: ID and calcium channel, mental retardation and calcium channel, GDD and calcium channel, developmental delay and calcium channel. MAIN BODY: A total of 59 reports describing 159 cases were found in PubMed, Embase, ClinVar, and LOVD databases. Variations in ten calcium channel genes including CACNA1A, CACNA1C, CACNA1I, CACNA1H, CACNA1D, CACNA2D1, CACNA2D2, CACNA1E, CACNA1F, and CACNA1G were found to be associated with ID/GDD. Most variants exhibited gain-of-function effect. Severe to profound ID/GDD was observed more for the cases with gain-of-function variants as compared to those with loss-of-function. CACNA1E, CACNA1G, CACNA1F, CACNA2D2 and CACNA1A associated with more severe phenotype. Furthermore, 157 copy number variations (CNVs) spanning calcium genes were identified in DECIPHER database. The leading genes included CACNA1C, CACNA1A, and CACNA1E. Overall, the underlying mechanisms included gain- and/ or loss-of-function, alteration in kinetics (activation, inactivation) and dominant-negative effects of truncated forms of alpha1 subunits. Forty of the identified cases featured cerebellar atrophy. We identified only a few cell and animal studies that focused on the mechanisms of ID/GDD in relation to CCs. There is a scarcity of studies on treatment options for ID/GDD both in vivo and in vitro. CONCLUSION: Our results suggest that CCs play a major role in ID/GDD. While both gain- and loss-of-function variants are associated with ID/GDD, the mechanisms underlying their involvement need further scrutiny.

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9. Kong Q, Tian P, Zhao J, Zhang H, Wang G, Chen W. The autistic-like behaviors development during weaning and sexual maturation in VPA-induced autistic-like rats is accompanied by gut microbiota dysbiosis. PeerJ. 2021; 9: e11103.

Researches on gut microbiota in autism have mostly focused on children, but the dynamic changes of gut microbiota from weaning to adulthood were still not clear because of the difficulty of diagnosing autism. In this study, autistic-like rats indued by valproate (VPA) were tracked from weaning (end of breastfeeding; four weeks old) to sexual maturation (food; eight weeks old). Autistic-like rats were found to show obvious developmental disorders. During weaning, autistic-like rats only exhibited obvious repetitive stereotyped behaviors, but the autistic-like behaviors were fully apparent upon sexual maturation. Significant differences were observed between the gut microbiota of autistic-like and healthy rats across both age groups. The correlation analysis results revealed that the correlation between behaviors and some microbiota, especially Helicobacter, did not vary with age or diet. The total amount of short-chain fatty acids (SCFAs) decreased, butyric acid metabolism decreased, and propionic acid metabolism increased in the feces of autistic-like rats. The correlation between autistic-like behaviors and the butyric acid and propionic acid levels did not vary with diet or age. Inositol phosphate metabolism, amino acid metabolism, and lipopolysaccharide biosynthesis were significantly associated with autistic-like behaviors. Our results showed that although the microbiota and SCFAs related to autism were affected by age and diet, some remained consistent irrespective of age and diet, and they could be considered two of the factors related to autistic-like behaviors development.

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10. Lim VHT, Chen YR, Tseng MH, Bundy A, Cordier R. The impact of caregiver stigma on real-life social experience of Taiwanese adolescents with autism spectrum disorder. Autism : the international journal of research and practice. 2021; 25(7): 1859-71.

Caregivers of people with autism spectrum disorder commonly experience stigma. As a result, they may avoid contact with others, in turn, influencing their child’s social participation. This study aimed to explore the impact of stigma perceived by the caregivers on the everyday social experience of Taiwanese adolescents with autism spectrum disorder. We asked 76 adolescents with autism spectrum disorder who did not have intellectual disability (69 males, aged 10-16 years) to carry a mobile device for 7 days. The device prompted them 7 times each day to record who they were interacting with, what they perceived, and how they felt about their social interactions. In addition, we asked their caregivers to complete the Affiliate Stigma Scale to measure their experience of stigma. We found that participants whose caregivers perceived high levels of stigma were more likely to spend time with family members and less likely to be interested in interacting with people at school. Those participants also were more likely to experience anxiety while interacting with family. Our study suggests that it is important for clinicians to implement support services for adolescents with autism spectrum disorder and help caregivers in managing stigma to promote their child’s social participation.

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11. Ma SL, Chen LH, Lee CC, Lai KYC, Hung SF, Tang CP, Ho TP, Shea C, Mo F, Mak TSH, Sham PC, Leung PWL. Genetic Overlap Between Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in SHANK2 Gene. Frontiers in neuroscience. 2021; 15: 649588.

Background: Recent findings indicated a high comorbidity between attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), as well as shared genetic influences on them. The latter might contribute at least partly to the former clinical scenario. This study aimed at investigating whether SHANK genes were potential pleiotropic genes to the two said disorders, underlying their genetic overlap. Methods: This study recruited 298 boys with ADHD (including 256 family trios of 1 ADHD boy and his 2 biological parents), 134 boys with ASD, 109 boys with both ADHD and ASD, and 232 typically developing boys as community controls. They were aged between 6 and 11 years old. Results: There was no significant difference in allele frequency of a number of single nucleotide polymorphisms (SNPs) in SHANK2/SHANK3 between the three clinical groups (ADHD, ASD, and ADHD + ASD) and between the two control groups (community controls and pseudo-controls), respectively. The three clinical groups and the two control groups were thus, respectively, combined. A comparison between the two aggregated samples identified significant evidence of disease association for three SHANK2 SNPs with both ADHD and ASD, even after multiple testing correction: rs11236616 (OR = 0.762, permuted p = 0.0376), rs7106631 (OR = 0.720, permuted p = 0.0034), and rs9888288 (OR = 0.770, permuted p = 0.0407). Comparisons among individual groups pointed to a similar trend of findings. Conclusion: SHANK2 could be considered a potential pleiotropic gene underlying the genetic overlap between ADHD and ASD. This might contribute partly to their high comorbidity in the afflicted children.

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12. Pfeiffer B, Brusilovskiy E, Hallock T, Salzer M, Davidson AP, Slugg L, Feeley C. Impact of COVID-19 on Community Participation and Mobility in Young Adults with Autism Spectrum Disorders. Journal of autism and developmental disorders. 2022; 52(4): 1553-67.

Transportation and mobility for community participation is difficult for persons with Autism Spectrum Disorders (ASD) under normal circumstances, but the impact of COVID-19 made access even more challenging. Researchers used a single-subject design to examine patterns of change from before and after the COVID-19 pandemic in community mobility and participation as measured by GPS and daily participation questionnaires. Participants were young adults with ASD between the ages of 21 and 27 (4 males, 2 females) who were enrolled in a subsequent study. Community mobility and participation decreased for all participants in both essential and non-essential activities. Additionally, the number of trips for participants decreased substantially in the after COVID-19 periods, as did the variability in modes of transit.

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13. Pileggi ML, Brane N, Bradshaw J, Delehanty A, Day T, McCracken C, Stapel-Wax J, Wetherby AM. Early Observation of Red Flags in 12-Month-Old Infant Siblings Later Diagnosed With Autism Spectrum Disorder. American journal of speech-language pathology. 2021; 30(4): 1846-55.

Purpose Valid and reliable screening tools are needed to improve early detection and optimize developmental outcomes for toddlers at risk for autism spectrum disorder (ASD). The current study aimed to evaluate the utility of the Systematic Observation of Red Flags (SORF) for ASD at 12 months of age in a sample of high-risk infant siblings of children with ASD. Method As part of a prospective, longitudinal study, we examined the sensitivity and specificity of the SORF at 12 months for predicting a diagnosis of ASD at 24 months in a sample of 122 infants, 31 of whom were diagnosed with ASD. Results The optimal SORF Composite cutoff score of 18 correctly identified 24 of the 31 twelve-month-olds who were diagnosed with ASD, yielding a sensitivity of .77 and a specificity of .76. The optimal SORF Red Flags cutoff score of 7 correctly identified 20 of the 31 infants, yielding a sensitivity of .65 and a specificity of .75. Conclusion This preliminary study demonstrates the potential of the SORF as an effective observational screening measure for 12-month-olds at risk for ASD with good discrimination, sensitivity, and specificity.

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14. Prakash A, Banerjee M. Genomic selection signatures in autism spectrum disorder identifies cognitive genomic tradeoff and its relevance in paradoxical phenotypes of deficits versus potentialities. Scientific reports. 2021; 11(1): 10245.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by paradoxical phenotypes of deficits as well as gain in brain function. To address this a genomic tradeoff hypothesis was tested and followed up with the biological interaction and evolutionary significance of positively selected ASD risk genes. SFARI database was used to retrieve the ASD risk genes while for population datasets 1000 genome data was used. Common risk SNPs were subjected to machine learning as well as independent tests for selection, followed by Bayesian analysis to identify the cumulative effect of selection on risk SNPs. Functional implication of these positively selected risk SNPs was assessed and subjected to ontology analysis, pertaining to their interaction and enrichment of biological and cellular functions. This was followed by comparative analysis with the ancient genomes to identify their evolutionary patterns. Our results identified significant positive selection signals in 18 ASD risk SNPs. Functional and ontology analysis indicate the role of biological and cellular processes associated with various brain functions. The core of the biological interaction network constitutes genes for cognition and learning while genes in the periphery of the network had direct or indirect impact on brain function. Ancient genome analysis identified de novo and conserved evolutionary selection clusters. The de-novo evolutionary cluster represented genes involved in cognitive function. Relative enrichment of the ASD risk SNPs from the respective evolutionary cluster or biological interaction networks may help in addressing the phenotypic diversity in ASD. This cognitive genomic tradeoff signatures impacting the biological networks can explain the paradoxical phenotypes in ASD.

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15. Pyszkowska A, Wrona K. Self-compassion, ego-resiliency, coping with stress and the quality of life of parents of children with autism spectrum disorder. PeerJ. 2021; 9: e11198.

BACKGROUND: The literature shows a fairly coherent picture of the types of difficulties parents face. Adaptive both coping styles and resources, such as self-compassion and ego-resiliency, indicated as important predictors of the quality of life among parents of children with autism spectrum disorder. The aim of the study was to determine the links between self-compassion and ego-resiliency, coping with stress and quality of life among parents of children with autism spectrum disorder in a Polish sample (N = 76). METHODS: A cross-sectional study was conducted. The CISS, Self-Compassion Scale-Short, Ego-Resiliency Scale, and Quality of Life Questionnaire were used. RESULTS: Regression analysis was carried out to address the research question. It was confirmed that both resources studied exhibited negative relations with emotion-oriented coping, while ego-resiliency was also positively correlated with task- and avoidance-oriented strategies. The hierarchical multiple regression conducted in three steps indicated that ego-resiliency (18%) and emotion-oriented (14%) were the strongest predictors of quality of life among parents of children with ASD. CONCLUSIONS: The obtained results proved that ego-resiliency and a task-oriented coping strategy were important indicators of the quality of life of parents of children with ASD.

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16. Qualls LR, Hartmann K, Paulson JF, Wells NK. Testing a Model of Sexual Minority Orientation in Individuals with Typical Development, the Broad Autism Phenotype, and Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022; 52(4): 1678-92.

Individuals with Autism Spectrum Disorder (ASD) and the Broad Autism Phenotype (BAP) are more likely than individuals with typical development (TD) to report a sexual minority orientation (e.g., Bejerot and Eriksson, PLoS ONE 9:1-9, 2014; DeWinter et al., Journal of Autism and Developmental Disorders 47:2927-2934, 2017; Qualls et al., Journal of Autism and Developmental Disorders 48:3974-3983, 2018). This study operationalized and tested the fit of an existing model of sexual orientation to examine which factors are associated with increased sexual minority orientation (Worthington et al., The Counseling Psychologist 30:496-531, 2002) in individuals with TD, BAP, and ASD. The model was found to have adequate fit, χ(2) (130) = 374.04, p < 0.001; RMSEA = 0.07; CFI = 0.95; SRMR = 0.08. Heterosexism was found to be the only predictor of sexual minority orientation and a significant predictor in the BAP and ASD groups, with increased daily heterosexist experiences predicting greater sexual minority orientation in these groups.

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17. Tesfaye R, Wright N, Zaidman-Zait A, Bedford R, Zwaigenbaum L, Kerns CM, Duku E, Mirenda P, Bennett T, Georgiades S, Smith IM, Vaillancourt T, Pickles A, Szatmari P, Elsabbagh M. Investigating longitudinal associations between parent reported sleep in early childhood and teacher reported executive functioning in school-aged children with autism. Sleep. 2021; 44(9).

Up to 80% of children with autism spectrum disorder (ASD) experience sleep disturbance. Poor sleep impairs executive functioning (EF), a lifelong difficulty in ASD. Evidence suggests EF difficulties in ASD are exacerbated by poor sleep. We examine whether early childhood sleep disturbances are associated with worsening EF trajectories in school-aged children with ASD. A subsample (n = 217) from the Pathways in ASD longitudinal study was analyzed. The Children’s Sleep Habits Questionnaire captured sleep duration, onset, and night awakenings before age 5 (mean = 3.5 years). Metacognition (MI) and Behavioral Regulation (BRI) indices, on the Teacher Behavior Rating Inventory of Executive Functioning, were used to measure cognitive and affective components of EF respectively at four time-points (7.8-11.8 years). We applied latent growth curve models to examine associations between sleep and EF, accounting for relevant covariates, including school-age sleep (mean = 6.7 years). Sleep traits had different age-related impacts on behavioral regulation, but not metacognition. Longer sleep onset at 3.5 years was associated with a worsening BRI difficulties slope (b = 2.07, p < 0.04), but conversely associated with lower BRI difficulties at 7.7 years (b = -4.14, p = 0.04). A longer sleep onset at 6.7 years was related to higher BRI difficulties at 7.7 years (b = 7.78, p < 0.01). Longer sleep duration at 6.7 years was associated with higher BRI difficulties at age 7.7 (b = 3.15, p = 0.01), but subscale analyses revealed shorter sleep duration at age 6.7 was linked to a worsening inhibition slope (b = -0.60, p = 0.01). Sleep onset is a robust early correlate of behavior regulation in children with ASD, whereas sleep duration is a later childhood correlate.

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18. Valenza E, Calignano G. Attentional shift within and between faces: Evidence from children with and without a diagnosis of autism spectrum disorder. PloS one. 2021; 16(5): e0251475.

Evidence of attentional atypicalities for faces in Autism Spectrum Disorders (ASD) are far from being confirmed. Using eye-tracking technology we compared space-based and object-based attention in children with, and without, a diagnosis of ASD. By capitalizing on Egly’s paradigm, we presented two objects (2 faces and their phase-scrambled equivalent) and cued a location in one of the two objects. Then, a target appeared at the same location as the cue (Valid condition), or at a different location within the same object (Same Object condition), or at a different location in another object (Different Object condition). The attentional benefit/cost in terms of time for target detection in each of the three conditions was computed. The findings revealed that target detection was always faster in the valid condition than in the invalid condition, regardless of the type of stimulus and the group of children. Thus, no difference emerged between the two groups in terms of space-based attention. Conversely the two groups differed in object-based attention. Children without a diagnosis of ASD showed attentional shift cost with phase-scrambled stimuli, but not with faces. Instead, children with a diagnosis of ASD deployed similar attentional strategies to focus on faces and their phase-scrambled version.

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19. Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, de Rosso-Giuliani L, da Costa SS, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American journal of medical genetics Part A. 2021; 185(8): 2335-44.

Chromosomal microarray analyses (CMA) have greatly increased both the yield and diagnostic accuracy of postnatal analysis; it has been used as a first-tier cytogenetic test in patients with intellectual disability, autism spectrum disorder, and multiple congenital abnormalities. During the last 15 years, we performed CMA in approximately 8,000 patients with neurodevelopmental and/or congenital disorders, of which 13 (0.16%) genetically catastrophic complex chromosomal rearrangements were identified. These ultrarare rearrangements showed clustering of breakpoints, characteristic of chromoanagenesis events. Al1 13 complex events display underlying formation mechanisms, originating either by a synchronization of the shattering of clustered chromosome regions in which regional asynchrony of DNA replication may be one of the main causes of disruption. We provide an overview of the copy number profiling in these patients. Although several previous studies have suggested that chromoanagenesis is often a genetic disease source in postnatal diagnostic screening, due to either the challenge of clinical interpretation of these complex rearrangements or the limitation of microarray resolution relative to the small size and complexity of chromogenic induced chromosome abnormalities, bringing further attention and to study its occurrence in the clinical setting is extremely important.

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20. Yang HX, Hu HX, Zhang YJ, Wang Y, Lui SSY, Chan RCK. A network analysis of interoception, self-awareness, empathy, alexithymia, and autistic traits. European archives of psychiatry and clinical neuroscience. 2022; 272(2): 199-209.

Altered interoception has been consistently found in people with autism spectrum disorder (ASD), and this impairment may contribute to social cognitive dysfunctions. However, little is known regarding the intercorrelations between interoceptive sensibility, autistic, alexithymic, empathic, and self-related traits. We recruited 1360 non-clinical college students and adults to investigate the complex inter-relationship between these variables using network analysis. The resultant network revealed patterns connecting autistic traits to interoceptive sensibility, empathy, alexithymia, and self-awareness, with reasonable stability and test-retest consistency. The node of alexithymia exhibited the highest centrality and expected influence. As revealed by the network comparison test, networks constructed in high- and low-autistic subgroups were comparable in global strength and structure. Our findings suggested that alexithymia serves as an important node, bridging interoceptive deficits, self-awareness, and empathic impairments of autism spectrum disorder. The co-morbidity of alexithymia should be considered carefully in future studies of interoceptive impairments and social deficits in ASD.

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