1. Aaron E, Montgomery A, Ren X, Guter S, Anderson G, Carneiro AMD, Jacob S, Mosconi M, Pandey GN, Cook E, Veenstra-VanderWeele J. {{Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder}}. {J Autism Dev Disord};2019 (Mar 29)
Elevated whole blood serotonin (WB5-HT) is a well-replicated biomarker in autism spectrum disorder (ASD). Decreased platelet serotonin receptor 5-HT2A binding has been reported in ASD. WB5-HT levels and platelet 5-HT2A specific binding were obtained from 110 individuals with ASD and 18 controls. Individuals with ASD had significantly higher WB5-HT levels than controls. There was no difference in the platelet 5-HT2A specific binding between groups. Multiple regression analyses revealed that platelet 5-HT2A binding significantly predicted WB5-HT in the control sample but not in the ASD sample. These results indicate that the relationship between WB5-HT and platelet 5-HT2A binding differs depending on ASD diagnosis, suggesting differences in platelet 5-HT system regulation in ASD.
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2. Chou WJ, Hsiao RC, Ni HC, Liang SH, Lin CF, Chan HL, Hsieh YH, Wang LJ, Lee MJ, Hu HF, Yen CF. {{Self-Reported and Parent-Reported School Bullying in Adolescents with High Functioning Autism Spectrum Disorder: The Roles of Autistic Social Impairment, Attention-Deficit/Hyperactivity and Oppositional Defiant Disorder Symptoms}}. {Int J Environ Res Public Health};2019 (Mar 28);16(7)
The aim of this study was to examine the prevalence of self-reported and parent-reported bullying victimization, perpetration, and victimization-perpetration and the associations of autistic social impairment and attention-deficit/hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD) symptoms with bullying involvement in adolescents with high functioning autism spectrum disorder (ASD). A total of 219 adolescents with high functioning ASD participated in this study. The associations of sociodemographic characteristics, parent-reported autistic social impairment, and parent-reported ADHD and ODD symptoms with self-reported and parent-reported bullying victimization, perpetration, and victimization-perpetration were examined using logistic regression analysis. The results found that the agreement between self-reported and parent-reported bullying involvement was low. Compared with bullying involvement experiences reported by adolescents themselves, parents reported higher rates of pure bullying victimization (23.7% vs. 17.8%) and victimization-perpetration (28.8% vs. 9.1%) but a lower rate of pure bullying perpetration (5.9% vs. 9.1%). Deficit in socio-communication increases the risk of being pure victims and victim-perpetrators. Parent-reported victim-perpetrators had more severe ODD symptoms than did parent-reported pure victims.
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3. Edfawy M, Guedes JR, Pereira MI, Laranjo M, Carvalho MJ, Gao X, Ferreira PA, Caldeira G, Franco LO, Wang D, Cardoso AL, Feng G, Carvalho AL, Peca J. {{Abnormal mGluR-mediated synaptic plasticity and autism-like behaviours in Gprasp2 mutant mice}}. {Nat Commun};2019 (Mar 29);10(1):1431.
Autism spectrum disorder (ASD) is characterized by dysfunction in social interactions, stereotypical behaviours and high co-morbidity with intellectual disability. A variety of syndromic and non-syndromic neurodevelopmental disorders have been connected to alterations in metabotropic glutamate receptor (mGluR) signalling. These receptors contribute to synaptic plasticity, spine maturation and circuit development. Here, we investigate the physiological role of Gprasp2, a gene linked to neurodevelopmental disabilities and involved in the postendocytic sorting of G-protein-coupled receptors. We show that Gprasp2 deletion leads to ASD-like behaviour in mice and alterations in synaptic communication. Manipulating the levels of Gprasp2 bidirectionally modulates the surface availability of mGluR5 and produces alterations in dendritic complexity, spine density and synaptic maturation. Loss of Gprasp2 leads to enhanced hippocampal long-term depression, consistent with facilitated mGluR-dependent activation. These findings demonstrate a role for Gprasp2 in glutamatergic synapses and suggest a possible mechanism by which this gene is linked to neurodevelopmental diseases.
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4. Hicks SD, Carpenter RL, Wagner KE, Pauley R, Barros M, Tierney-Aves C, Barns S, Greene CD, Middleton FA. {{Saliva microRNA Differentiates Children With Autism From Peers With Typical and Atypical Development}}. {J Am Acad Child Adolesc Psychiatry};2019 (Mar 26)
OBJECTIVE: Clinical diagnosis of autism spectrum disorder (ASD) relies on time-consuming subjective assessments. The primary purpose of this study was to investigate the utility of salivary microRNAs for differentiating children with ASD from peers with typical development (TD), and non-autism developmental delay (DD). The secondary purpose was to explore microRNA patterns among ASD phenotypes. METHOD: This multi-center, prospective, case-control study enrolled 443 children (2-6 years). ASD diagnoses were based on DSM-5 criteria. Children with ASD or DD were assessed with the Autism Diagnostic Observation Schedule II and Vineland Adaptive Behavior Scales-II. MicroRNAs were measured with high throughput sequencing. Differential expression of microRNAs was compared among ASD (n=187), TD (n=125), and DD (n=69) children in the training set (N=381). Multivariate logistic regression was defined a panel of microRNAs that differentiated ASD and non-ASD children. The algorithm was tested in a prospectively collected, naive set of 62 samples (ASD=37; TD=8; DD=17). Relationships between microRNA levels and ASD phenotypes were explored. RESULT: Fourteen microRNAs displayed differential expression (FDR<0.05) between ASD, TD, and DD groups. A panel of four microRNAs (controlling for medical/demographic covariates) best differentiated children with ASD from children without ASD in training (AUC=0.725) and validation (AUC=0.694) sets. Eight microRNAs were associated (R> [0.25], FDR<0.05) with social affect, and 10 microRNAs were associated with restricted/repetitive behavior. CONCLUSION: Salivary microRNAs are "altered" in children with ASD, and associated with levels of ASD behaviors. Salivary microRNA collection is non-invasive, identifying ASD-status with moderate accuracy. A multi-"omic" approach employing additional RNA families may improve accuracy, leading to clinical application. Lien vers le texte intégral (Open Access ou abonnement)
5. Kilroy E, Cermak SA, Aziz-Zadeh L. {{A Review of Functional and Structural Neurobiology of the Action Observation Network in Autism Spectrum Disorder and Developmental Coordination Disorder}}. {Brain Sci};2019 (Mar 28);9(4)
Recent research has reported motor impairment similarities between children with developmental coordination disorder (DCD) and a subgroup of individuals with autism spectrum disorder (ASD). However, there is a debate as to whether DCD is a co-occurring diagnosis in individuals with ASD and motor impairments (ASDd), or if motor impairments in ASD are distinct from DCD. However, the etiology of motor impairments is not well understood in either disorder. Clarifying comorbidities in ASD is important to determine different etiopathological phenotyping clusters in ASD and to understand the variety of genetic and environmental factors that contribute to the disorder. Furthermore, this distinction has important therapeutic relevance. Here we explore the current neuroimaging findings in ASD and DCD and discusses possible neural mechanisms that underlie similarities and differences between the disorders.
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6. Koegel LK, Glugatch LB, Koegel RL, Castellon FA. {{Targeting IEP Social Goals for Children with Autism in an Inclusive Summer Camp}}. {J Autism Dev Disord};2019 (Mar 29)
Children with autism spectrum disorder demonstrate challenges in socialization that can interfere with their participation in common childhood activities and can persist or worsen if not addressed. The purpose of this study was to assess whether individualized education program (IEP) social goals could be targeted by a supervised paraprofessional during a short-term inclusive summer camp program. Data were collected using a concurrent multiple baseline design across four children. Results showed that following a 2-week summer camp program all participants made social improvements, reaching their year-long IEP goals, that maintained at follow-up in natural environments. Further, the paraprofessionals reached fidelity of implementation. Findings are discussed in terms of the value and feasibility of providing social interventions in inclusive summer camps.
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7. Moricke E, Greven CU, Visser JC, Oosterling IJ, Buitelaar JK, Rommelse NNJ. {{Social-communicative and attention problems in infancy and toddlerhood as precursors of preschool autistic traits}}. {Atten Defic Hyperact Disord};2019 (Mar);11(1):113-122.
This longitudinal study focused on early behavioural problems and autistic traits. In a stratified, population-derived sample of 119 children, mothers reported through questionnaires on externalizing, internalizing, and social-communicative characteristics of their child in infancy (14 months) and toddlerhood (37 months), and on autistic traits at preschool age (4-5 years). Children with consistently normal behaviour from infancy to toddlerhood showed lower autistic traits at preschool age than children with deviant behaviour on one or both time points. High autistic traits at preschool age were predominantly preceded by problems in interaction, communication, language, play, and affect in infancy and/or toddlerhood, but also by inattention in toddlerhood. Adequate support and specific interventions in these domains are needed in an attempt to diminish further derailment of the child’s behaviour and development, and to prevent the full manifestation of ASD or related disorders such as ADHD.
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8. Nadeem G, Bibi A, Suhaib B, Ahmed S, Ali S. {{Clinical and Demographic Features of 76 Children with Autism Spectrum Disorders at a Centre in Pakistan}}. {J Coll Physicians Surg Pak};2019 (Apr);29(4):390-391.
In this cross-sectional study, 76 consecutive children with autism spectrum disorder (ASD) were studied for the clinical and demographic parameters at Autism Resource Centre in Pakistan. The median age at first consultation was 30 months, 36 months at diagnosis, and 42 months at referral to a specialised centre. Clinical psychologists, therapists and paediatricians were the most frequently involved people in diagnosis. There was an average delay of one year between the first consultation and referral to the specialised centre. The male to female ratio was 4.4:1. Consanguinity was observed in 33 (43.4%) children. Three children had another affected sibling. Half of the children were from the affluent class, while two-thirds of the parents were professionals having good education. The severity of ASD showed that 13 (17%) children had borderline features, 50 (66%) had mild to moderate ASD, while 13 (17%) had severe ASD.
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9. Ng R, Heinrich K, Hodges EK. {{Brief Report: Neuropsychological Testing and Informant-Ratings of Children with Autism Spectrum Disorder, Attention-Deficit/Hyperactivity Disorder, or Comorbid Diagnosis}}. {J Autism Dev Disord};2019 (Mar 29)
This study aimed to examine the neuropsychological correlates of child patients diagnosed with ADHD, autism spectrum disorder (ASD), or comorbid ASD + ADHD through a multidisciplinary ASD evaluation clinic. Patients completed standardized tests of intellectual, attention, social-affective/cognitive, and executive functioning; and a semi-structured assessment commonly used for autism diagnosis. The majority of patients were medicated for ADHD concerns during testing. Parents and teachers also completed inventories of day-to-day social and attentional functioning. Group effects were found across objective social measures but not across related respondent-ratings. In contrast, group differences were observed in parent-ratings of attention difficulties, but not on standardized tests of attention or executive functioning. Findings underscore importance of integrating objective and functional measures when assessing ASD and/or ADHD.
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10. Turner D, Briken P, Schottle D. {{Sexual Dysfunctions and Their Association with the Dual Control Model of Sexual Response in Men and Women with High-Functioning Autism}}. {J Clin Med};2019 (Mar 28);8(4)
Adults with an Autism Spectrum Disorder (ASD) are characterized by impairments in social interaction and communication, repetitive and stereotyped interests and behaviours as well as hyper- and/or hyposensitivities. These disorder specific symptoms could be associated with the development of sexual disorders. The Dual Control Model of Sexual Response presents one approach that is frequently used to explain the emergence of sexual dysfunctions. The aim of the present study was to assess the extent of symptoms of sexual dysfunctions in men and women with ASD and to evaluate their association with the individual propensity of sexual excitation and inhibition as defined by the Dual Control Model. Both men and women with ASD were more likely to report about sexual dysfunctions than individuals from the control group. In men with ASD, sexual inhibition was significantly correlated with the emergence of sexual dysfunctions, while there was no association between sexual functioning and sexual excitation. In women, the opposite pattern was found. Especially the peculiarities in sensitive perception could be responsible for the observed problems with sexual functioning in individuals with ASD. The present findings highlight the great need for specialized treatment programs addressing the frequently observed sexuality-related problems in individuals with ASD. However, up to now such treatment programs are lacking.
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11. Zhang-James Y, Vaudel M, Mjaavatten O, Berven FS, Haavik J, Faraone SV. {{Effect of disease-associated SLC9A9 mutations on protein-protein interaction networks: implications for molecular mechanisms for ADHD and autism}}. {Atten Defic Hyperact Disord};2019 (Mar);11(1):91-105.
Na(+)/H(+) Exchanger 9 (NHE9) is an endosomal membrane protein encoded by the Solute Carrier 9A, member 9 gene (SLC9A9). SLC9A9 has been implicated in attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASDs), epilepsy, multiple sclerosis and cancers. To better understand the function of NHE9 and the effects of disease-associated variants on protein-protein interactions, we conducted a quantitative analysis of the NHE9 interactome using co-immunoprecipitation and isobaric labeling-based quantitative mass spectrometry. We identified 100 proteins that interact with NHE9. These proteins were enriched in known functional pathways for NHE9: the endocytosis, protein ubiquitination and phagosome pathways, as well as some novel pathways including oxidative stress, mitochondrial dysfunction, mTOR signaling, cell death and RNA processing pathways. An ADHD-associated mutation (A409P) significantly altered NHE9’s interactions with a subset of proteins involved in caveolae-mediated endocytosis and MAP2K2-mediated downstream signaling. An ASD nonsense mutation in SLC9A9, R423X, produced no-detectable amount of NHE9, suggesting the overall loss of NHE9 functional networks. In addition, seven of the NHE9 interactors are products of known autism candidate genes (Simons Foundation Autism Research Initiative, SFARI Gene) and 90% of the NHE9 interactome overlap with SFARI protein interaction network PIN (p < 0.0001), supporting the role of NHE9 interactome in ASDs molecular mechanisms. Our results provide a detailed understanding of the functions of protein NHE9 and its disrupted interactions, possibly underlying ADHD and ASDs. Furthermore, our methodological framework proved useful for functional characterization of disease-associated genetic variants and suggestion of druggable targets. Lien vers le texte intégral (Open Access ou abonnement)
