1. Albajara Sáenz A, Van Schuerbeek P, Baijot S, Septier M, Deconinck N, Defresne P, Delvenne V, Passeri G, Raeymaekers H, Slama H, Victoor L, Willaye E, Peigneux P, Villemonteix T, Massat I. {{Disorder-specific brain volumetric abnormalities in Attention-Deficit/Hyperactivity Disorder relative to Autism Spectrum Disorder}}. {PLoS One}. 2020; 15(11): e0241856.
The overlap/distinctiveness between Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) has been increasingly investigated in recent years, particularly since the DSM-5 allows the dual diagnosis of ASD and ADHD, but the underlying brain mechanisms remain unclear. Although both disorders are associated with brain volumetric abnormalities, it is necessary to unfold the shared and specific volume abnormalities that could contribute to explain the similarities and differences in the clinical and neurocognitive profiles between ADHD and ASD. In this voxel-based morphometry (VBM) study, regional grey matter volumes (GMV) were compared between 22 children with ADHD, 18 children with ASD and 17 typically developing (TD) children aged 8 to 12 years old, controlling for age and total intracranial volume. When compared to TD children or children with ASD, children with ADHD had a larger left precuneus, and a smaller right thalamus, suggesting that these brain abnormalities are specific to ADHD relative to ASD. Overall, this study contributes to the delineation of disorder-specific structural abnormalities in ADHD and ASD.
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2. Alper M. {{Improving Research on Screen Media, Autism, and Families of Young Children}}. {JAMA Pediatr}. 2020.
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3. Alvares GA, Licari MK, Stevenson PG, Bebbington K, Cooper MN, Glasson EJ, Tan DW, Uljarević M, Varcin KJ, Wray J, Whitehouse AJO. {{Investigating associations between birth order and autism diagnostic phenotypes}}. {J Child Psychol Psychiatry}. 2020.
BACKGROUND: Birth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First- and later-born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order. The present study investigated the potential association between birth order and ASD diagnostic phenotypes in a large and representative population sample. METHODS: Data were obtained from an ongoing prospective diagnostic registry, collected between 1999 and 2017, including children (1-18 years of age, n = 5,404) diagnosed with ASD in the state of Western Australia. Children with ASD were ranked relative to sibling’s birth to establish birth order within families at time of ASD diagnosis. Information reported to the registry by health professionals at the time of diagnostic evaluation included demographic and family characteristics, functional abilities and intellectual capacity. RESULTS: Adaptive functioning and intelligence scores decreased with increasing birth order, with later-born children more likely to have an intellectual disability. Compared to first-born children with siblings, first-born children without siblings at the time of diagnosis also exhibited decreased cognitive functioning. CONCLUSIONS: These findings demonstrate for the first time an association between increasing birth order and variability in ASD clinical phenotypes at diagnosis, with potential evidence of reproductive curtailment in children without siblings. Taken together, these findings have significant implications for advancing understanding about the potential mechanisms that contribute to heterogeneity in ASD clinical presentations as a function of birth order and family size.
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4. Ammons CJ, Winslett ME, Bice J, Patel P, May KE, Kana RK. {{The Mid-Fusiform Sulcus in Autism Spectrum Disorder: Establishing a Novel Anatomical Landmark Related to Face Processing}}. {Autism Res}. 2020.
Despite decades of research, the brain basis of aberrant face processing in autism spectrum disorder (ASD) remains a topic of debate. The mid-fusiform sulcus (MFS), a minor feature of the ventral occipitotemporal cortex, provides new directions for studying face processing. The MFS closely aligns with face-selective cortical patches and other structural and functional divisions of the fusiform gyrus; however, it has received little attention in clinical populations. We collected structural MRI data from 54 individuals with ASD and 61 age-and-IQ-matched controls ages 8 to 40 years. The MFS was identified on cortical surface reconstructions via 4 trained raters and classified into known surface patterns. Mean MFS gray matter volume (GMV), cortical surface area (SA), cortical thickness (CT), and standard deviation of CT (CT SD) were extracted. Effects of diagnosis, age, and hemisphere on MFS surface presentation and morphometry were assessed via multinomial logistic regression and mixed effects general linear modeling, respectively. The MFS was reliably identified in 97% of hemispheres examined. Macroanatomical patterns and age-related decreases in MFS GMV and CT were similar between groups. CT SD was greater in the left hemisphere in ASD. Participants’ ability to interpret emotions and mental states from facial features was significantly negatively correlated with MFS CT and CT SD. Overall, the MFS is a stable feature of the fusiform gyrus in ASD and CT related measures appear to be sensitive to diagnosis and behavior. These results can inform future investigations of face processing and structure-function relationships in populations with social deficits. LAY SUMMARY: A small structural feature of the brain related to seeing faces (the mid-fusiform sulcus; MFS) appears similar in autism spectrum disorder (ASD) and neurotypical development; however, the thickness of this structure on the left side of the brain is more variable in ASD. People who are better at judging mental states from another person’s eyes tend to have thinner and less variable MFS. This feature may teach us more about face processing and how brain structure influences function in ASD.
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5. Ann Abraham D, Narasimhan U, Christy S, Muhasaparur Ganesan R. {{Effect of L-Carnosine as adjunctive therapy in the management of children with autism spectrum disorder: a randomized controlled study}}. {Amino acids}. 2020.
L-Carnosine is an amino acid that acts as an anti-oxidant, anti-toxic and neuroprotective agent. There is a paucity of data about the effectiveness of L-Carnosine in the management of autism spectrum disorder (ASD) in children. This study aimed at investigating the effectiveness of L-Carnosine as adjunctive therapy in the management of ASD. This was a randomized controlled trial. Children aged 3-6 years with a diagnosis of mild to moderate ASD were assigned to standard care arm (occupational and speech therapy) and intervention care arm (L-Carnosine, 10-15 mg/kg in 2 divided doses) plus standard care treatment. The children were assessed at the baseline and the end of 2 months for the scores of Childhood Autism Rating Scale, Second Edition-Standard Version (CARS2-ST), Autism Treatment Evaluation Checklist (ATEC), BEARS sleep screening tool and 6-item Gastrointestinal Severity Index (6-GSI). Of the sixty-seven children enrolled, sixty-three children had completed the study. No statistically significant difference (p > 0.05) was observed for any of the outcome measures assessed. Supplementation of L-Carnosine did not improve the total score of CARS2-ST, ATEC, BEARS sleep screening tool and 6-GSI scores of children with ASD. Further investigations are needed with more objective assessments to critically validate the effectiveness of L-Carnosine on ASD children for more decisive results.
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6. Barokova MD, Hassan S, Lee C, Xu M, Tager-Flusberg H. {{A Comparison of Natural Language Samples Collected From Minimally and Low-Verbal Children and Adolescents With Autism by Parents and Examiners}}. {Journal of speech, language, and hearing research : JSLHR}. 2020: 1-11.
Purpose We aimed to compare the speech of parents and examiners as they elicited language samples from minimally and low-verbal (MLV) children and adolescents with autism spectrum disorder (ASD), while following the same semi-structured elicitation protocol, Eliciting Language Samples for Analysis-Adolescents (ELSA-A). We also compared the speech elicited from the MLV children/adolescents by their parents at home and by trained examiners in the lab and assessed the feasibility of parents collecting language samples at home. Method Thirty-three (five female, 28 male) MLV children and adolescents with ASD between the ages of 6;6 and 19;7 (years;months) participated. All participants were administered standardized assessments, and a trained examiner collected an ELSA-A language sample from them in the lab. The parents of 22 of the children/adolescents collected an ELSA-A sample at home. All language samples were transcribed following standard procedures, and measures of expressive language were extracted to assess the quantity of speech, its syntactic complexity, and lexical diversity. At the end of the study, parents filled out a feedback survey about their experiences collecting ELSA-A. Results On average, parents produced twice as much speech as trained examiners during ELSA-A. However, their speech did not differ in syntactic complexity or lexical diversity. When with their parents, the MLV children/adolescents also produced twice as much speech than with trained examiners. In addition, their samples were more lexically diverse. Overall, parents elicited longer language samples but administered fewer of the ELSA-A activities. Nevertheless, the majority of parents rated the experience of collecting language samples at home favorably. Conclusions When parents collect language samples at home, their older MLV children/adolescents with ASD produce more speech and engage in more back-and-forth verbal interactions than when with trained examiners. Because parent-elicited language samples allow for a richer assessment of children’s expressive language abilities, future studies should focus on identifying ways to encourage parents to collect data at home.
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7. Bartolotti J, Sweeney JA, Mosconi MW. {{Functional brain abnormalities associated with comorbid anxiety in autism spectrum disorder}}. {Development and psychopathology}. 2020; 32(4): 1273-86.
Anxiety disorders are common in autism spectrum disorder (ASD) and associated with social-communication impairment and repetitive behavior symptoms. The neurobiology of anxiety in ASD is unknown, but amygdala dysfunction has been implicated in both ASD and anxiety disorders. Using resting-state functional magnetic resonance imaging, we compared amygdala-prefrontal and amygdala-striatal connections across three demographically matched groups studied in the Autism Brain Imaging Data Exchange (ABIDE): ASD with a comorbid anxiety disorder (N = 25; ASD + Anxiety), ASD without a comorbid disorder (N = 68; ASD-NoAnx), and typically developing controls (N = 139; TD). Relative to ASD-NoAnx and TD controls, ASD + Anxiety individuals had decreased connectivity between the amygdala and dorsal/rostral anterior cingulate cortex (dACC/rACC). The functional connectivity of these connections was not affected in ASD-NoAnx, and amygdala connectivity with ventral ACC/medial prefrontal cortex (mPFC) circuits was not different in ASD + Anxiety or ASD-NoAnx relative to TD. Decreased amygdala-dorsomedial prefrontal cortex (dmPFC)/rACC connectivity was associated with more severe social impairment in ASD + Anxiety; amygdala-striatal connectivity was associated with restricted, repetitive behavior (RRB) symptom severity in ASD-NoAnx individuals. These findings suggest comorbid anxiety in ASD is associated with disrupted emotion-monitoring processes supported by amygdala-dACC/mPFC pathways, whereas emotion regulation systems involving amygdala-ventromedial prefrontal cortex (vmPFC) are relatively spared. Our results highlight the importance of accounting for comorbid anxiety for parsing ASD neurobiological heterogeneity.
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8. Becerra LA, Higbee TS, Vieira MC, Pellegrino AJ, Hobson K. {{The effect of photographic activity schedules on moderate-to-vigorous physical activity in children with autism spectrum disorder}}. {Journal of applied behavior analysis}. 2020.
Regular moderate-to-vigorous physical activity (MVPA) has been linked to improved bone health, muscular fitness, cognitive function, sleep, and a reduced risk of depression and obesity. Many children are not engaging in the recommended amount of physical activity. Furthermore, children with autism spectrum disorder (ASD) were found to engage in less physical activity than their peers of typical development. We extended previous research by conducting a physical activity context assessment, which included a comparison of indoor to outdoor activities to evaluate which environment produced the lowest percent of MVPA as recorded by the Observational System for Recording Physical Activity in Children. Given the utility of activity schedules to increase self-management and independent engagement during unstructured and low-preferred tasks, we then taught 3 preschool children diagnosed with ASD to use photographic activity schedules to increase the number of different activities that met the definition of MVPA in the 2 lowest-responding conditions of the physical activity context assessment. MVPA remained low during baseline sessions for all participants and immediately increased with the introduction of activity schedule teaching. All participants quickly met activity schedule teaching mastery criterion and demonstrated high levels of MVPA in generalization and maintenance probes without additional teaching.
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9. Brugger M, Brunet T, Wagner M, Orec LE, Schwaibold EMC, Boy N. {{Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder}}. {Gene}. 2020: 145260.
Correct diagnosis of children presenting with developmental delay and intellectual disability remains challenging due to the complex and heterogeneous etiology. High throughput sequencing technologies like exome sequencing have become more commonly available and are significantly improving genetic testing. We present two siblings – a 14-year old male and an 8-year old female patient – with a similar clinical phenotype that was characterized by combined developmental delay primarily affecting speech, mild to moderate intellectual disability, behavioral abnormalities, and autism spectrum disorder, but with no congenital anomalies. The sister showed additional muscular hypotonia and more pronounced dysmorphic features compared to her brother. Both parents had psychiatric disorders and mild to moderate intellectual disability. A common genetic etiology in the siblings was suspected. Metabolic, psychological and neuroradiological examinations were complemented by basic genetic testing including chromosome analysis and array comparative genomics hybridization analysis (CGH), followed by exome sequencing and combined data analysis of the family. Exome sequencing identified two different underlying genetic conditions: in the sister, a maternally inherited pathogenic variant c.1661C > T, p.Pro554Leu in SLC6A8 (NM_005629.4) was identified causing cerebral creatine deficiency syndrome 1 (MIM #300352) which was confirmed by MR spectroscopy and treated accordingly. In the brother, a paternally inherited 16p13.11 duplication was identified by exome sequencing and considered to be likely associated with his and possibly his father’s phenotype. The 16p13.11 duplication had been previously identified in an array CGH but had not been prioritized due to the lack of segregation in the siblings. In conclusion, we report a case of intra-familial locus heterogeneity of developmental delay in two siblings. We advocate for the need of unbiased and comprehensive genetic testing to provide accurate diagnosis despite locus heterogeneity.
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10. Carpita B, Muti D, Cremone IM, Fagiolini A, Dell’Osso L. {{Eating disorders and autism spectrum: links and risks}}. {CNS spectrums}. 2020: 1-40.
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11. Chien YL, Chao CC, Wu SW, Hsueh HW, Chiu YN, Tsai WC, Gau SS, Hsieh ST. {{Small fiber pathology in autism and clinical implications}}. {Neurology}. 2020; 95(19): e2697-e706.
OBJECTIVE: To investigate small fiber innervation of the skin and its relationships with clinicometry of autism and peripheral afferents for contact heat-evoked potential (CHEP) and psychophysical measures of thermal thresholds. METHODS: We recruited 32 men with autism (26.5 ± 5.9 years) and conducted small fiber assessments of skin biopsy with quantifying intraepidermal nerve fiber (IENF) density, CHEP, quantitative sensory testing, and large fiber physiology of nerve conduction studies. Results were compared with age-matched controls and analyzed with clinical measures of autism. RESULTS: Patients with autism showed a lower IENF density than controls (5.53 ± 2.09 vs 11.13 ± 3.49 fibers/mm, p < 0.0001). The IENF density was reduced in 17 (53.1%) men with autism classified as skin denervation group. On psychophysics, 9 (28%) men with autism had elevated thermal thresholds, and the warm threshold of the big toe was negatively correlated with IENF density (p = 0.0073), indicating functional impairments of small fiber sensory nerves. IENF density was negatively correlated with CHEP amplitude in autism (p = 0.003), in contrast to the pattern of positive correlation in controls, indicating different processing of nociceptive afferent in autism. Clinically, IENF density was related to distinct tactile symptom patterns in the skin denervation vs normal innervation group, respectively. Furthermore, IENF density was associated with autistic symptoms measured by the Autism Spectrum Quotient in a U-shaped model (p = 0.014). CONCLUSIONS: These observations indicated that a substantial portion of individuals with autism had small fiber pathology, which was associated with tactile and autistic symptoms, providing structural and physiologic evidence for the involvement of peripheral sensory nerves in autism. Lien vers le texte intégral (Open Access ou abonnement)
12. Farahani M, Rezaei-Tavirani M, Zali A, Zamanian-Azodi M. {{Systematic Analysis of Protein-Protein and Gene-Environment Interactions to Decipher the Cognitive Mechanisms of Autism Spectrum Disorder}}. {Cellular and molecular neurobiology}. 2020.
Autism spectrum disorder (ASD), a heterogeneous neurodevelopmental disorder resulting from both genetic and environmental risk factors, is manifested by deficits in cognitive function. Elucidating the cognitive disorder-relevant biological mechanisms may open up promising therapeutic approaches. In this work, we mined ASD cognitive phenotype proteins to construct and analyze protein-protein and gene-environment interaction networks. Incorporating the protein-protein interaction (PPI), human cognition proteins, and connections of autism-cognition proteins enabled us to generate an autism-cognition network (ACN). With the topological analysis of ACN, important proteins, highly clustered modules, and 3-node motifs were identified. Moreover, the impact of environmental exposures in cognitive impairment was investigated through chemicals that target the cognition-related proteins. Functional enrichment analysis of the ACN-associated modules and chemical targets revealed biological processes involved in the cognitive deficits of ASD. Among the 17 identified hub-bottlenecks in the ACN, PSD-95 was recognized as an important protein through analyzing the module and motif interactions. PSD-95 and its interacting partners constructed a cognitive-specific module. This hub-bottleneck interacted with the 89 cognition-related 3-node motifs. The identification of gene-environment interactions indicated that most of the cognitive-related proteins interact with bisphenol A (BPA) and valproic acid (VPA). Moreover, we detected significant expression changes of 56 cognitive-specific genes using four ASD microarray datasets in the GEO database, including GSE28521, GSE26415, GSE18123 and GSE29691. Our outcomes suggest future endeavors for dissecting the PSD-95 function in ASD and evaluating the various environmental conditions to discover possible mechanisms of the different levels of cognitive impairment.
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13. Fletcher S, Pawliuk C, Ip A, Oberlander T, Siden H. {{Symptoms, adverse events, and outcomes in the use of medicinal cannabis in children and adolescents with autism spectrum disorder: a scoping review protocol}}. {JBI evidence synthesis}. 2020.
OBJECTIVE: The objective of this scoping review is to map and identify the symptoms, adverse events, and outcomes in the use of medicinal cannabis in children and adolescents with autism spectrum disorder. INTRODUCTION: Autism spectrum disorder is a neurodevelopmental disorder that impacts social communication and social interaction, and is associated with restrictive and repetitive behaviors and interests. Medicinal cannabis has become a potential area of interest for parents for the treatment of ASD symptoms in their children. There is some evidence that cannabinoids may be involved in autism spectrum disorder, laying a potential foundation for medicinal cannabis utility; however, previous reviews did not identify any clinical research on this topic. INCLUSION CRITERIA: This scoping review will consider all published and unpublished studies that investigate the use of medicinal cannabis in autism spectrum disorder, where at least 50% of the participants have a diagnosis of autism spectrum disorder and at least 50% of the study population is 0-18 years of age, or where pediatric data are reported separately. Studies undertaken in any context (hospital or community) and in any geographic location will be included. METHODS: We will search MEDLINE, Embase, CINAHL, PsycINFO, Web of Science, and Google Scholar, and the gray literature sources for studies. Two independent team members will screen titles and abstract, review full texts for potential inclusion, and extract data for all studies. The results will be presented as a narrative synthesis and in tabular form.
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14. Freschl J, Melcher D, Carter A, Kaldy Z, Blaser E. {{Seeing a Page in a Flipbook: Shorter Visual Temporal Integration Windows in 2-Year-Old Toddlers with Autism Spectrum Disorder}}. {Autism Res}. 2020.
Individuals with autism spectrum disorder (ASD) experience differences in visual temporal processing, the part of vision responsible for parsing continuous input into discrete objects and events. Here we investigated temporal processing in 2-year-old toddlers diagnosed with ASD and age-matched typically developing (TD) toddlers. We used a visual search task where the visibility of the target was determined by the pace of a display sequence. On integration trials, each display viewed alone had no visible target, but if integrated over time, the target became visible. On segmentation trials, the target became visible only when displays were perceptually segmented. We measured the percent of trials when participants fixated the target as a function of the stimulus onset asynchrony (SOA) between displays. We computed the crossover point of the integration and segmentation performance functions for each group, an estimate of the temporal integration window (TIW), the period in which visual input is combined. We found that both groups of toddlers had significantly longer TIWs (125 ms) than adults (65 ms) from previous studies using the same paradigm, and that toddlers with ASD had significantly shorter TIWs (108 ms) than chronologically age-matched TD controls (142 ms). LAY SUMMARY: We investigated how young children, with and without autism, organize dynamic visual information across time, using a visual search paradigm. We found that toddlers with autism had higher temporal resolution than typically developing (TD) toddlers of the same age – that is, they are more likely to be able to detect rapid change across time, relative to TD toddlers. These differences in visual temporal processing can impact how one sees, interprets, and interacts with the world.
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15. Heffler KF, Bennett DS, Subedi K. {{Improving Research on Screen Media, Autism, and Families of Young Children-Reply}}. {JAMA Pediatr}. 2020.
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16. Kara T, Alpgan Ö. {{Nursing personality and features in children with autism spectrum disorder aged 0-2: an exploratory case-control study}}. {Nutr Neurosci}. 2020: 1-9.
AIM: Although studies have investigated relationships between autism spectrum disorder (ASD) and breastfeeding duration, information concerning these children’s nursing styles is limited. This study investigated nursing personality and features and ASD. METHOD: One hundred forty-one children aged 24-72 months diagnosed with ASD and 128 healthy children were included. Information concerning the family’s sociodemographic characteristics and the child’s developmental stages was obtained through forms prepared by the authors and from hospital records. The Childhood Autism Rating Scale (CARS) was used to determine symptom severity in ASD. Development levels of children with ASD were determined using the Denver Developmental Screening Test 2nd Edition (DDST II). RESULTS: Mothers of children with ASD reported higher rates of unintended pregnancies (p = 0.029) [2.380*(1.093-5.182)]. Children with ASD exhibited less nursing strike (NS) behavior (p = 0.042) [0.388(0.156-0.967)] and less eye contact during breastfeeding (ECDB) (p = 0.009) [2.300(1.236-4.282)]. NS reduced the risk of ASD 2.6-fold, while absence of ECDB increased the risk 2.3-fold, and unintended pregnancy increased the risk 2.4-fold. Higher CARS scores were determined in children with ASD with vaginal delivery histories (p = 0.041) and histories of incubation (p = 0.025). Lack of ECDB was associated with decreased social and gross motor scores at DDST-II (p = 0.005). CONCLUSION: Babies with ASD began breastfeeding at least as early as typically developing peers and for similar lengths of time. However, babies with ASD exhibited less NS behavior and less eye contact during breastfeeding. Babies with ASD perceive no emotional cues even in the first months, and may therefore not exhibit NS behavior.
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17. Lin E, Balogh R, Chung H, Dobranowski K, Durbin A, Volpe T, Lunsky Y. {{Looking across health and healthcare outcomes for people with intellectual and developmental disabilities and psychiatric disorders: population-based longitudinal study}}. {The British journal of psychiatry : the journal of mental science}. 2020: 1-7.
BACKGROUND: Intellectual and developmental disabilities (IDDs) and psychiatric disorders frequently co-occur. Although each has been associated with negative outcomes, their combined effect has rarely been studied. AIMS: To examine the likelihood of five negative health and healthcare outcomes for adults with IDD and mental health/addiction disorders (MHAs), both separately and together. For each outcome, demographic, clinical and system-level factors were also examined. METHOD: Linked administrative data-sets were used to identify adults in Ontario, Canada, with IDD and MHA (n = 29 476), IDD-only (n = 35 223) and MHA-only (n = 727 591). Five outcomes (30-day readmission, 30-day repeat ED visit, delayed discharge, long-term care admission and premature mortality) were examined by logistic regression models with generalised estimating equation or survival analyses. For each outcome, crude (disorder groups only) and complete (adding biosocial covariates) models were run using a general population reference group. RESULTS: The IDD and MHA group had the highest proportions across outcomes for both crude and complete models. They had the highest adjusted ratios for readmissions (aOR 1.93, 95%CI 1.88-1.99), repeat ED visit (aOR 2.00, 95%CI 1.98-2.02) and long-term care admission (aHR 12.19, 95%CI 10.84-13.71). For delayed discharge, the IDD and MHA and IDD-only groups had similar results (aOR 2.00 (95%CI 1.90-2.11) and 2.21 (95%CI 2.07-2.36). For premature mortality, the adjusted ratios were similar for all groups. CONCLUSIONS: Poorer outcomes for adults with IDD, particularly those with MHA, suggest a need for a comprehensive, system-wide approach spanning health, disability and social support.
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18. Marrus N, Grant JD, Harris-Olenak B, Albright J, Bolster D, Haber JR, Jacob T, Zhang Y, Heath AC, Agrawal A, Constantino JN, Elison JT, Glowinski AL. {{Genetic architecture of reciprocal social behavior in toddlers: Implications for heterogeneity in the early origins of autism spectrum disorder}}. {Development and psychopathology}. 2020; 32(4): 1190-205.
Impairment in reciprocal social behavior (RSB), an essential component of early social competence, clinically defines autism spectrum disorder (ASD). However, the behavioral and genetic architecture of RSB in toddlerhood, when ASD first emerges, has not been fully characterized. We analyzed data from a quantitative video-referenced rating of RSB (vrRSB) in two toddler samples: a community-based volunteer research registry (n = 1,563) and an ethnically diverse, longitudinal twin sample ascertained from two state birth registries (n = 714). Variation in RSB was continuously distributed, temporally stable, significantly associated with ASD risk at age 18 months, and only modestly explained by sociodemographic and medical factors (r2 = 9.4%). Five latent RSB factors were identified and corresponded to aspects of social communication or restricted repetitive behaviors, the two core ASD symptom domains. Quantitative genetic analyses indicated substantial heritability for all factors at age 24 months (h2 ≥ .61). Genetic influences strongly overlapped across all factors, with a social motivation factor showing evidence of newly-emerging genetic influences between the ages of 18 and 24 months. RSB constitutes a heritable, trait-like competency whose factorial and genetic structure is generalized across diverse populations, demonstrating its role as an early, enduring dimension of inherited variation in human social behavior. Substantially overlapping RSB domains, measurable when core ASD features arise and consolidate, may serve as markers of specific pathways to autism and anchors to inform determinants of autism’s heterogeneity.
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19. Ortega-Alarcon D, Claveria-Gimeno R, Vega S, Jorge-Torres OC, Esteller M, Abian O, Velazquez-Campoy A. {{Molecular Context-Dependent Effects Induced by Rett Syndrome-Associated Mutations in MeCP2}}. {Biomolecules}. 2020; 10(11).
Methyl-CpG binding protein 2 (MeCP2) is a transcriptional regulator and a chromatin-binding protein involved in neuronal development and maturation. Loss-of-function mutations in MeCP2 result in Rett syndrome (RTT), a neurodevelopmental disorder that is the main cause of mental retardation in females. MeCP2 is an intrinsically disordered protein (IDP) constituted by six domains. Two domains are the main responsible elements for DNA binding (methyl-CpG binding domain, MBD) and recruitment of gene transcription/silencing machinery (transcription repressor domain, TRD). These two domains concentrate most of the RTT-associated mutations. R106W and R133C are associated with severe and mild RTT phenotype, respectively. We have performed a comprehensive characterization of the structural and functional impact of these substitutions at molecular level. Because we have previously shown that the MBD-flanking disordered domains (N-terminal domain, NTD, and intervening domain, ID) exert a considerable influence on the structural and functional features of the MBD (Claveria-Gimeno, R. et al. Sci Rep. 2017, 7, 41635), here we report the biophysical study of the influence of the protein scaffold on the structural and functional effect induced by these two RTT-associated mutations. These results represent an example of how a given mutation may show different effects (sometimes opposing effects) depending on the molecular context.
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20. Rehbein T, Herrmann DN. {{Sensory processing in autism spectrum disorder: Insights from the periphery?}}. {Neurology}. 2020; 95(19): 851-2.
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21. Ring M, Solomon M. {{Introduction to the Special Collection on « Memory in Autism Spectrum Disorder »}}. {Autism Res}. 2020.
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22. Roberts JE, Bradshaw J, Will E, Hogan AL, McQuillin S, Hills K. {{Emergence and rate of autism in fragile X syndrome across the first years of life}}. {Development and psychopathology}. 2020; 32(4): 1335-52.
Prospective longitudinal studies of idiopathic autism spectrum disorder (ASD) have provided insights into early symptoms and predictors of ASD during infancy, well before ASD can be diagnosed at age 2-3 years. However, research on the emergence of ASD in disorders with a known genetic etiology, contextualized in a developmental framework, is currently lacking. Using a biobehavioral multimethod approach, we (a) determined the rate of ASD in N = 51 preschoolers with fragile X syndrome (FXS) using a clinical best estimate (CBE) procedure with differential diagnoses of comorbid psychiatric disorders and (b) investigated trajectories of ASD symptoms and physiological arousal across infancy as predictors of ASD in preschoolers with FXS. ASD was not diagnosed if intellectual ability or psychiatric disorders better accounted for the symptoms. Our results determined that 60.7% of preschoolers with FXS met the Diagnostic and Statistical Manual of Mental Disorders (fifth edition) (DSM-5) criteria for ASD using the CBE procedure. In addition, 92% of these preschoolers presented with developmental delay and 45.4% also met criteria for psychiatric disorders, either anxiety, ADHD, or both. ASD diagnoses in preschoolers with FXS were predicted by elevated scores on traditional ASD screeners in addition to elevated autonomic arousal and avoidant eye contact from infancy.
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23. Rydzewska E, Dunn K, Cooper SA. {{Umbrella systematic review of systematic reviews and meta-analyses on comorbid physical conditions in people with autism spectrum disorder}}. {The British journal of psychiatry : the journal of mental science}. 2020: 1-10.
BACKGROUND: Comorbid physical conditions may be more common in people with autism spectrum disorder (ASD) than other people. AIMS: To identify what is and what is not known about comorbid physical conditions in people with ASD. METHOD: We undertook an umbrella systematic review of systematic reviews and meta-analyses on comorbid physical conditions in people with ASD. Five databases were searched. There were strict inclusion/exclusion criteria. We undertook double reviewing for eligibility, systematic data extraction and quality assessment. Prospective PROSPERO registration: CRD42015020896. RESULTS: In total, 24 of 5552 retrieved articles were included, 15 on children, 1 on adults, and 8 both on children and adults. Although the quality of included reviews was good, most reported several limitations in the studies they included and considerable heterogeneity. Comorbid physical conditions are common, and some are more prevalent than in the general population: sleep problems, epilepsy, sensory impairments, atopy, autoimmune disorders and obesity. Asthma is not. However, there are substantial gaps in the evidence base. Fewer studies have been undertaken on other conditions and some findings are inconsistent. CONCLUSIONS: Comorbid physical conditions occur more commonly in people with ASD, but the evidence base is slim and more research is needed. Some comorbidities compound care if clinicians are unaware, for example sensory impairments, given the communication needs of people with ASD. Others, such as obesity, can lead to an array of other conditions, disadvantages and early mortality. It is essential that potentially modifiable physical conditions are identified to ensure people with ASD achieve their best outcomes. Heightening clinicians’ awareness is important to aid in assessments and differential diagnoses, and to improve healthcare.
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24. Sandbank M, Bottema-Beutel K, Woynaroski T. {{Intervention Recommendations for Children With Autism in Light of a Changing Evidence Base}}. {JAMA Pediatr}. 2020.
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25. Sandgreen H, Frederiksen LH, Bilenberg N. {{Digital Interventions for Autism Spectrum Disorder: A Meta-analysis}}. {J Autism Dev Disord}. 2020.
This study aimed to review digital interventions in the treatment of autism spectrum disorder (ASD). A systematic review and meta-analysis was conducted. Nineteen studies were included. The interventions aimed to improve social skills (n = 11), developmental skills (n = 2) and 6 other different targets. Technology used were computer programs (n = 14), tablet apps (n = 3), a robot (n = 1) and an interactive DVD (n = 1). The meta-analysis resulted in an overall effect size (Cohen’s d) of 0.32 [0.12-0.51], indicating a small effect. Heterogeneity between studies was high (I(2) = 100%), limiting the generalization of results. Therefore, we recommend larger RCT studies, and guidelines for the development of trials evaluating digital interventions for ASD, for making comparison of future studies possible.Registration can be found online at Prospero: https://www.crd.york.ac.uk/prospero/ , registration no. CRD42020146542.
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26. Schneider A, Summers S, Tassone F, Seritan A, Hessl D, Hagerman P, Hagerman R. {{Women with Fragile X-associated Tremor/Ataxia Syndrome}}. {Movement disorders clinical practice}. 2020; 7(8): 910-9.
BACKGROUND: Fragile X-associated tremor and ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder linked to the FMR1 premutation. OBJECTIVES: FXTAS in women is far less common than in men, and this study represents the largest sample reported to date. METHODS: A total of 53 female premutation carriers with FXTAS (mean(age), 66.83 years; FXTAS stages 2-5) and 55 age-matched and demographic background-matched control participants (mean(age), 61.94 years) underwent a comprehensive molecular, physiological, neuropsychological, and psychiatric assessment. RESULTS: The large sample of female premutation carriers showed a wide range of variability of clinical signs and symptom progression. The imaging results showed a middle cerebellar peduncles sign in only 6 patients; another symptom included high-signal intensity in the splenium of the corpus callosum, and diffuse cerebral deep white matter changes (e.g., in the pons) are more common. The rate of psychiatric disorders, especially depression, is higher than in the general population. There is a clear impairment in executive functioning and fine motor skills in connection with a higher FXTAS stage. CONCLUSIONS: The manifestation of FXTAS symptoms in female carriers can be diverse with a milder phenotype and a lower penetrance than those observed in male premutation carriers. The middle cerebellar peduncles sign is present in only a small percentage of the sample, and we propose that the imaging criteria for FXTAS in women need to be expanded.
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27. Song A, Cola M, Plate S, Petrulla V, Yankowitz L, Pandey J, Schultz RT, Parish-Morris J. {{Natural language markers of social phenotype in girls with autism}}. {J Child Psychol Psychiatry}. 2020.
BACKGROUND: Girls with autism spectrum condition (ASC) are chronically underdiagnosed compared to boys, which may be due to poorly understood sex differences in a variety of domains, including social interest and motivation. In this study, we use natural language processing to identify objective markers of social phenotype that are easily obtained from a brief conversation with a nonexpert. METHODS: 87 school-aged children and adolescents with ASC (17 girls, 33 boys) or typical development (TD; 15 girls, 22 boys) were matched on age (mean = 11.35 years), IQ estimates (mean = 107), and – for ASC participants – level of social impairment. Participants engaged in an informal 5-min ‘get to know you’ conversation with a nonexpert conversation partner. To measure attention to social groups, we analyzed first-person plural pronoun variants (e.g., ‘we’ and ‘us’) and third-person plural pronoun variants (e.g., ‘they’ and ‘them’). RESULTS: Consistent with prior research suggesting greater social motivation in autistic girls, autistic girls talked more about social groups than did ASC boys. Compared to TD girls, autistic girls demonstrated atypically heightened discussion of groups they were not a part of (‘they’, ‘them’), indicating potential awareness of social exclusion. Pronoun use predicted individual differences in the social phenotypes of autistic girls. CONCLUSIONS: Relatively heightened but atypical social group focus is evident in autistic girls during spontaneous conversation, which contrasts with patterns observed in autistic boys and TD girls. Quantifying subtle linguistic differences in verbally fluent autistic girls is an important step toward improved identification and support for this understudied sector of the autism spectrum.
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28. Tse HM, Ho IT, Wong K. {{The Learning, Social and Emotion Adaptation Questionnaire-Short Form: A Measure of Adaptive Behavior for Primary School Students with Autism Spectrum Disorder}}. {Autism Res}. 2020.
Students with autism spectrum disorder (ASD) studying in mainstream classrooms have diverse adjustment difficulties in learning, social interaction, and emotion regulation. It is crucial to identify the areas these students find most challenging so that teachers can provide training and support accordingly. We therefore developed, examined, and provided norms for the Learning, Social and Emotion Adaptation Questionnaire-Short Form (LSEAQ-S), a teacher report instrument measuring 53 essential adaptive behaviors for mainstream primary school students in Hong Kong. Teachers completed the LSEAQ-S for three samples of 2,298, 2,690, and 3,305 students with ASD from 204 schools and a sample of 1,869 students without ASD from 112 schools. Our study showed that an 11-factor structure best describes the LSEAQ-S, which has high internal consistency and good convergent validity examined with the Social Responsiveness Scale-Second Edition (SRS-2). Normative data of the LSEAQ-S stratified by gender and grade (grades 1 to 3; grades 4 to 6) are presented. Gender and grade differences were found, with girls with ASD lagging behind their same-gender peers in related skills more than boys with ASD did, across both grade levels and especially in senior grades. The LSEAQ-S, together with its normative data, can reveal students’ difficulties and needs, inform intervention priorities, and help monitor training progress. LAY SUMMARY: This study introduces the Learning, Social and Emotion Adaptation Questionnaire-Short Form (LSEAQ-S), a teacher report instrument developed in Hong Kong measuring school adaptation of students with autism spectrum disorder (ASD) in mainstream primary schools. The measure helps education personnel identify behaviors in which a student falls behind his/her peers and facilitate training and support targeting those behaviors.
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29. Vita A, Barlati S, Deste G, Rocca P, Rossi A, Bertolino A, Aguglia E, Amore M, Bellomo A, Biondi M, Carpiniello B, Collantoni E, Cuomo A, D’Ambrosio E, dell’Osso L, di Giannantonio M, Giordano GM, Marchesi C, Monteleone P, Montemagni C, Oldani L, Pompili M, Roncone R, Rossi R, Siracusano A, Zeppegno P, Nibbio G, Galderisi S, Maj M. {{The influence of autistic symptoms on social and non-social cognition and on real-life functioning in people with schizophrenia: evidence from the Italian Network for Research on Psychoses multicenter study}}. {European psychiatry : the journal of the Association of European Psychiatrists}. 2020: 1-24.
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30. Wang K, Li N, Xu M, Huang M, Huang F. {{Glyoxalase 1 Inhibitor Alleviates Autism-like Phenotype in a Prenatal Valproic Acid-Induced Mouse Model}}. {ACS chemical neuroscience}. 2020.
Autism spectrum disorder (ASD) is a severe neurological and developmental disorder that impairs a person’s ability to socialize and communicate and affects behavior. The number of patients diagnosed with ASD has risen rapidly. However, the pathophysiology of ASD is poorly understood, and drugs for ASD treatment are strikingly limited. This study aims to evaluate the roles of glyoxalase 1 (GLO1)-methylglyoxal (MG)-γ-aminobutyric acid (GABA) signaling in ASD using a valproic acid (VPA)-induced animal model of autism. The GLO1 levels were analyzed by RT-qPCR and Western blot assay, and MG levels were measured with a Methylglyoxal Assay Kit. The open-field and sniff duration tests were used to assess the interest and anxiety of VPA mice. The three-chamber, marble-burying, and tail-flick tests were applied to determine the sociability, repetitive behavior, and nociceptive threshold of VPA mice. Our results demonstrated that increased GLO1 and decreased MG were observed in VPA mice. Administration of S-p-bromobenzylglutathione cyclopentyl diester (BrBzGCp2), a GLO1 inhibitor, was beneficial for alleviating anxiety, reducing repetitive behavior, and improving the impaired sociability and nociceptive threshold of VPA mice. BrBzGCp2 treatment may be developed as a promising therapeutic strategy for patients with ASD.
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31. Xing H, Cui N, Johnson CM, Faisthalab Z, Jiang C. {{Dual synaptic inhibitions of brainstem neurons by GABA and glycine with impact on Rett syndrome}}. {Journal of cellular physiology}. 2020.
Rett syndrome (RTT) is a neurodevelopmental disease caused mostly by mutations in the MECP2 gene. People with RTT show breathing dysfunction attributable to the high rate of sudden death. Previous studies have shown that insufficient GABA synaptic inhibition contributes to the breathing abnormalities in mouse models of RTT, while it remains elusive how the glycine system is affected. We found that optogenetic stimulation of GAD-expressing neurons in mice produced GABAergic and glycinergic postsynaptic inhibitions of neurons in the hypoglossal nucleus (XII) and the dorsal motor nucleus of vagus (DMNV). By sequential applications of bicuculline and strychnine, such inhibition appeared approximately 44% GABA(A) ergic and 52% glycinergic in XII neurons, and approximately 49% GABA(A) ergic and 46% glycinergic in DMNV neurons. Miniature inhibitory postsynaptic potentials (mIPSCs) in these neurons were approximately 47% GABA(A) ergic and 49% glycinergic in XII neurons, and approximately 48% versus 50% in DMNV neurons, respectively. Consistent with the data, our single-cell polymerase chain reaction studies indicated that transcripts of GABA(A) receptor γ2 subunit (GABA(A) Rγ2) and glycine receptor β subunit (GlyRβ) were simultaneously expressed in these cells. In MeCP2(R168X) mice, proportions of GABA(A) ergic and glycinergic mIPSCs became approximately 28% versus 69% in XII neurons, and approximately 31% versus 66% in DMNV cells. In comparison with control mice, the GABA(A) ergic and glycinergic mIPSCs decreased significantly in the XII and DMNV neurons from the MeCP2(R168X) mice, so did the transcripts of GABA(A) Rγ2 and GlyRβ. These results suggest that XII and DMNV neurons adopt dual GABA(A) ergic and glycinergic synaptic inhibitions, and with Mecp2 disruption these neurons rely more on glycinergic synaptic inhibition.
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32. Yi Z, Dixon MR. {{Developing and Enhancing Adherence to a Telehealth ABA Parent Training Curriculum for Caregivers of Children with Autism}}. {Behavior analysis in practice}. 2020: 1-17.
The current COVID-19 pandemic poses unique challenges to the delivery of applied behavior analysis (ABA) services, and there has been a growing demand for evidence-based practices on how to develop a telehealth ABA service model. The current article provides a detailed technological guide on how to develop a telehealth ABA parent training curriculum. Our model also includes a series of brief acceptance and commitment training (ACT) protocols to enhance parental adherence. We provide the details for replicating our telehealth model and also demonstrate its effectiveness. To begin, a step-by-step guide on how to develop this curriculum is presented, as well as protocols used in a 60-day telehealth ABA parent training program. Afterward, we describe a randomized controlled trial design to examine the effectiveness of this protocol. Thirteen families from the southern Illinois region participated in the curriculum before the COVID-19 outbreak. Obtained data indicated training was effective to teach skills, and parents with supplemental ACT material made significantly more progress than those in the control group, t(11) = 2.36, p = .038. Halfway through the training, the outbreak of COVID-19 occurred, and parents in the ACT group were more likely to continue the program, whereas parents in the control group were significantly more likely to postpone their participation, χ(2) = 6.96, p = .008. Social validity measures indicated that parents rated the curriculum favorably. Limitations and suggestions for practitioners are discussed.
