1. Bottema-Beutel K, Woynaroski T, Louick R, Stringer Keefe E, Watson LR, Yoder PJ. {{Longitudinal associations across vocabulary modalities in children with autism and typical development}}. {Autism}. 2018: 1362361317745856.
We examined differences between children with autism spectrum disorder and typically developing children over an 8-month period in: (a) longitudinal associations between expressive and receptive vocabulary and (b) the extent to which caregiver utterances provided within an « optimal » engagement state mediated the pathway from early expressive to later receptive vocabulary. In total, 59 children (28-53 months at Time 1) comprised the autism spectrum disorder group and 46 children (8-24 months at Time 1) comprised the typically developing group. Groups were matched on initial vocabulary sizes. Results showed that the association between early expressive and later receptive vocabulary was moderated by group. A moderated mediation effect was also found, indicating linguistic input provided within an optimal engagement state only mediated associations for the autism spectrum disorder group.
Lien vers le texte intégral (Open Access ou abonnement)
2. Cartocci V, Catallo M, Tempestilli M, Segatto M, Pfrieger FW, Bronzuoli MR, Scuderi C, Servadio M, Trezza V, Pallottini V. {{Altered Brain Cholesterol/Isoprenoid Metabolism in a Rat Model of Autism Spectrum Disorders}}. {Neuroscience}. 2018.
Autism spectrum disorders (ASDs) present a wide range of symptoms characterized by altered sociability, compromised communication and stereotypic/repetitive behaviors. These symptoms are caused by developmental changes, but the mechanisms remain largely unknown. Some lines of evidence suggest an impairment of the cholesterol/isoprenoid metabolism in the brain as a possible cause, but systematic analyses in rodent models of ASDs are lacking. Prenatal exposure to the antiepileptic drug valproate (VPA) is a risk factor for ASDs in humans and generates a well-established model for the disease in rodents. Here, we studied cholesterol/isoprenoid metabolism in different brain areas of infant, adolescent and adult rats prenatally exposed to VPA. VPA-treated rats present autistic-like symptoms, they show changes in cholesterol/isoprenoid homeostasis in some brain areas, a decreased number of oligodendrocytes and impaired myelination in the hippocampus. Together, our data suggest a relation between brain cholesterol/isoprenoid homeostasis and ASDs.
Lien vers le texte intégral (Open Access ou abonnement)
3. Chen J, Tian L, Lei L, Hou F, Roper C, Ge X, Zhao Y, Tanguay RL, Huang C. {{Development and behavior alterations in zebrafish embryonically exposed to valproic acid (VPA): Animal model of autism}}. {Neurotoxicology and teratology}. 2018.
Autism spectrum disorder (ASD) has complex neurodevelopmental impairments and origins that are linked to both genetic and environmental factors. Hence, there is an urgency to establish animal models with ASD-like characteristics to understand the underlying mechanisms of ASD. Prenatal exposure to valproic acid (VPA) has been shown to cause ASD-like symptoms in humans, rats, and recently zebrafish. The present study investigated the use of VPA exposure to create an ASD model in zebrafish that was verified through observation of ASD-like phenotypes in brain development and behavioral changes in embryonic and larval zebrafish. Our findings revealed that treating zebrafish embryos with VPA starting at 8h post fertilization (hpf) resulted in significant: increase in the ASD macrocephalic phenotype; hyperactivity of embryo/larvae movement behaviors; and increases of ASD-like larval social behaviors. Further analysis showed increases in cell proliferation, the proportion of mature newborn neurons, and neural stem cell proliferation in the brain region, which may contribute to the brain overgrowth and macrocephaly observed following VPA exposure. Our study demonstrated that VPA exposure can generate ASD-like phenotypes and behaviors, showing the validity of zebrafish as an alternative model for ASD and underlying mechanism research.
Lien vers le texte intégral (Open Access ou abonnement)
4. Hedgecock JB, Dannemiller LA, Shui A, Rapport MJ, Katz T. {{Associations of Gross Motor Delay, Behavior, and Quality of Life in Young Children With Autism}}. {Physical therapy}. 2018.
Background: Young children with autism spectrum disorder (ASD) often have gross motor delays (GMD) that may accentuate problem daytime behavior (PDB) and health-related quality of life (QoL). Objective: The objective of this study was to describe the degree of GMD in young children with ASD and associations of GMD with PDB and QoL. The primary hypothesis was that GMD significantly modifies the associations between internalizing or externalizing PDB and QoL. Design: This study used a cross-sectional, retrospective analysis. Methods: Data from 3253 children who were 2 to 6 years old and who had ASD were obtained from the Autism Speaks Autism Treatment Network and analyzed using unadjusted and adjusted linear regression. Measures included the Vineland Adaptive Behavior Scales, 2nd edition, gross motor v-scale score (VABS-GM) (for GMD), the Child Behavior Checklist (CBCL) (for PDB), and the Pediatric Quality of Life Inventory (PedsQL) (for QoL). Results: The mean VABS-GM was 12.12 (SD = 2.2), representing performance at or below the 16th percentile. After adjustment for covariates, the internalizing CBCL t score decreased with increasing VABS-GM (beta = -0.64 SE = 0.12). Total and subscale PedsQL scores increased with increasing VABS-GM (for total score: beta = 1.79 SE = 0.17; for subscale score: beta = 0.9-2.66 SE = 0.17-0.25). CBCL internalizing and externalizing t scores decreased with increasing PedsQL total score (beta = -0.39 SE = 0.01; beta = -0.36 SE = 0.01). The associations between CBCL internalizing or externalizing t scores and PedsQL were significantly modified by VABSGM (beta = -0.026 SE = 0.005]; beta = -0.019 SE = 0.007). Limitations: The study lacked ethnic and socioeconomic diversity. Measures were collected via parent report without accompanying clinical assessment. Conclusions: GMD was independently associated with PDB and QoL in children with ASD. GMD modified the association between PDB and QoL. Children with ASD and co-occurring internalizing PDB had greater GMD than children without internalizing PDB; therefore, these children may be most appropriate for early physical therapist evaluation.
Lien vers le texte intégral (Open Access ou abonnement)
5. Lubala TK, Lumaka A, Mbuyi-Musanzayi S, Kayembe T, Shongo MYP, Mukuku O, Lubala N, Malamba-Lez D, Luboya ON, Lukusa-Tshilobo P. {{Fragile X syndrome with mosaic size mutation in a Bantu patient from Central Africa}}. {Clinical dysmorphology}. 2018.
Lien vers le texte intégral (Open Access ou abonnement)
6. Ncube BL, Perry A, Weiss JA. {{The quality of life of children with severe developmental disabilities}}. {J Intellect Disabil Res}. 2018.
BACKGROUND: Research examining the quality of life (QoL) of children with severe developmental disabilities (SDD) is limited. The present study examines parent perceptions of child QoL in children with SDD compared with typically developing (TD) children and then examines predictors of QoL for the SDD group. METHOD: Parents of 246 children with SDD (aged 4 to 19 years) and 210 TD children (aged 4 to 18 years) responded to an online survey. QoL was measured using a composite variable composed of the child’s happiness, achievement of potential and friendship quality. RESULTS: Children with DD had lower QoL ratings than TD children. In children with DD, higher QoL was related to younger age, higher adaptive skills, lower maladaptive behaviour, lower parent psychological distress and higher satisfaction with the child’s education. CONCLUSIONS: Interventions to promote positive outcomes for children with SDD should target both characteristics of the individual and the environment.
Lien vers le texte intégral (Open Access ou abonnement)
7. Oztan O, Jackson LP, Libove RA, Sumiyoshi RD, Phillips JM, Garner JP, Hardan AY, Parker KJ. {{Biomarker discovery for disease status and symptom severity in children with autism}}. {Psychoneuroendocrinology}. 2017; 89: 39-45.
Autism spectrum disorder (ASD) is characterized by social impairments and repetitive behaviors, and affects 1 in 68 US children. Despite ASD’s societal impact, its disease mechanisms remain poorly understood. Recent preclinical ASD biomarker discovery research has implicated the neuropeptides oxytocin (OXT) and arginine vasopressin (AVP), and their receptors, OXTR and AVPR1A, in animal models. Efforts to translate these findings to individuals with ASD have typically involved evaluating single neuropeptide measures as biomarkers of ASD and/or behavioral functioning. Given that ASD is a heterogeneous disorder, and unidimensional ASD biomarker studies have been challenging to reproduce, here we employed a multidimensional neuropeptide biomarker analysis to more powerfully interrogate disease status and symptom severity in a well characterized child cohort comprised of ASD patients and neurotypical controls. These blood-based neuropeptide measures, considered as a whole, correctly predicted disease status for 57 out of 68 (i.e., 84%) participants. Further analysis revealed that a composite measure of OXTR and AVPR1A gene expression was the key driver of group classification, and that children with ASD had lower neuropeptide receptor mRNA levels compared to controls. Lower neuropeptide receptor mRNA levels also predicted greater symptom severity for core ASD features (i.e., social impairments and stereotyped behaviors), but were unrelated to intellectual impairment, an associated feature of ASD. Findings from this research highlight the value of assessing multiple related biological measures, and their relative contributions, in the same study, and suggest that low blood neuropeptide receptor availability may be a promising biomarker of disease presence and symptom severity in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
8. Sumner E, Leonard HC, Hill EL. {{Comparing Attention to Socially-Relevant Stimuli in Autism Spectrum Disorder and Developmental Coordination Disorder}}. {Journal of abnormal child psychology}. 2018.
Difficulties with social interaction have been reported in both children with an autism spectrum disorder (ASD) and children with developmental coordination disorder (DCD), although these disorders have very different diagnostic characteristics. To date, assessment of social skills in a DCD population has been limited to paper-based assessment or parent report. The present study employed eye tracking methodology to examine how children attend to socially-relevant stimuli, comparing 28 children with DCD, 28 children with ASD and 26 typically-developing (TD) age-matched controls (aged 7-10). Eye movements were recorded while children viewed 30 images, half of which were classed as ‘Individual’ (one person in the scene, direct gaze) and the other half were ‘Social’ (more naturalistic scenes showing an interaction). Children with ASD spent significantly less time looking at the face/eye regions in the images than TD children, but children with DCD performed between the ASD and TD groups in this respect. Children with DCD demonstrated a reduced tendency to follow gaze, in comparison to the ASD group. Our findings confirm that social atypicalities are present in both ASD and to a lesser extent DCD, but follow a different pattern. Future research would benefit from considering the developmental nature of the observed findings and their implications for support.
Lien vers le texte intégral (Open Access ou abonnement)
9. Weill VA, Zavodny S, Souders MC. {{Autism spectrum disorder in primary care}}. {The Nurse practitioner}. 2018; 43(2): 21-8.
Nurse practitioners working in the primary care setting will commonly see children with autism spectrum disorder. It is important for clinicians to be vigilant for subtle developmental signs that can lead to early identification and diagnosis. This article presents information on assessment, screening, the responsibilities of coordinating services, and ways to support families.
Lien vers le texte intégral (Open Access ou abonnement)
10. Woestelandt L, Novo A, Philippe A, Guyaux N, Rio M, Romano S, Robel L. {{PDD-NOS, psychotic features and executive function deficits in a boy with proximal 22q11.2 microduplication: Evolution of the psychiatric symptom profile from childhood to adolescence}}. {European journal of medical genetics}. 2018.
22q11.2 microduplication (22q11.2DupS) is associated with a broad spectrum of phenotypes, including normality. Psychiatric disorders are described in 13% of these patients, including Attention Deficit and Hyperactivity Disorder (ADHD), Intellectual Deficiency (ID), and Autism Spectrum Disorder (ASD), but not schizophrenia. We report changes in the psychiatric symptom profile in the course of development of a young boy with a 22q11.2DupS syndrome, from early childhood to adolescence. The boy’s psychiatric presentation was characterized by features of Pervasive Developmental Disorder (PDD), with ADHD in early childhood, a single psychotic episode in mid-infancy, and executive impairment in adolescence. We discuss the importance of an in-depth assessment of cognitive functions in children with22q11.2DupS throughout their development.
