1. Crehan ET, Baer J, Althoff RR, Constantino JN. {{Tracking the Influence of Autistic Traits on Competencies Among School Aged Children with Subthreshold Autistic Traits: A Longitudinal Study}}. {Child Psychiatry Hum Dev};2018 (May 11)
This study aims to further explore the implications of autism spectrum disorder (ASD) symptoms for children who do not meet full diagnostic criteria. More specific characterization of how challenges present relative to traits of ASD such as social responsiveness is vital to developing an understanding of what competency and mental health difficulties these impairments are related to, and if they persist over time. Assessments of autistic traits, clinical symptomotology, and competency were used to quantify the relation of these domains cross-sectionally and across time. Social Responsiveness Scale (SRS) scores significantly contributed to a teacher-report Happy scale from the Teacher’s Report Form and a parent-report Social scale from the Child Behavior Checklist. No significant longitudinal models emerged. Splitting the SRS scores into three severity classes revealed that impaired social responsiveness is significantly related to competency, unlike average or below average deficits. Implications of subthreshold ASD traits on competency outcomes are discussed.
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2. Durrleman S, Hinzen W, Franck J. {{False belief and relative clauses in Autism Spectrum Disorders}}. {J Commun Disord};2018 (Apr 17);74:35-44.
Previous studies have suggested sentential complementation is the crucial ingredient of language that relates to false-belief (FB) reasoning, while the role of relative clauses (RCs) is less clear. Nevertheless, under the hypothesis that clausal embedding has a meta-representational effect, arguably implied in FB, one expects a link between FB and not only complementation but also relativization. Seventeen children with ASD (6 to 16 years, mean age 9;2) were assessed for RCs and FB. Comprehension of RCs significantly predicted FB performance, while none of the controlled factors played a predictive role (comprehension of simple sentences, vocabulary, morpho-syntax and working memory). Findings suggest that clausal embedding, common to both sentential complements and RCs, serves as a bootstrap for FB reasoning.
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3. May T, Williams K. {{Brief Report: Gender and Age of Diagnosis Time Trends in Children with Autism Using Australian Medicare Data}}. {J Autism Dev Disord};2018 (May 11)
Recent evidence suggests the male predominance in Autism Spectrum Disorder (ASD) may be decreasing. Secondary analyses of Australian Medicare data (paediatrician/child psychiatrist items for diagnosing ASD before age 13) were used (N = 73,463 unique children from 1-July-2008 to 30-June-2016). Cumulative incidence of ASD in 4-year-olds in 2015/2016 was 1.10% [95% CI 1.06-1.14], males 1.66% [95% CI 1.60-1.72] and females 0.51% [95% CI 0.47-0.55]. New diagnoses significantly increased in older (5-12 years) males and females but not younger (0-4 years) children, from 2010/2011 to 2015/2016. The M:F ratio decreased in older children (4.1-3.0), but not significantly in younger children (4.2-3.5). Identification of older males and females is contributing to the increased in ASD in Australia and proportionally more older females are being diagnosed.
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4. Mazzone L, Postorino V, Siracusano M, Riccioni A, Curatolo P. {{The Relationship between Sleep Problems, Neurobiological Alterations, Core Symptoms of Autism Spectrum Disorder, and Psychiatric Comorbidities}}. {J Clin Med};2018 (May 3);7(5)
Children with Autism Spectrum Disorder (ASD) are at an increased risk for sleep disturbances, and studies indicate that between 50 and 80% of children with ASD experience sleep problems. These problems increase parental stress and adversely affect family quality of life. Studies have also suggested that sleep disturbances may increase behavioral problems in this clinical population. Although understanding the causes of sleep disorders in ASD is a clinical priority, the causal relationship between these two conditions remains unclear. Given the complex nature of ASD, the etiology of sleep problems in this clinical population is probably multi-factorial. In this overview, we discuss in detail three possible etiological explanations of sleep problems in ASD that can all contribute to the high rate of these symptoms in ASD. Specifically, we examine how neurobiological alterations, genetic mutations, and disrupted sleep architecture can cause sleep problems in individuals with ASD. We also discuss how sleep problems may be a direct result of core symptoms of ASD. Finally, a detailed examination of the relationship between sleep problems and associated clinical features and psychiatric comorbidities in individuals with ASD is described.
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5. Noroozi R, Omrani MD, Sayad A, Taheri M, Ghafouri-Fard S. {{Cytoplasmic FMRP interacting protein 1/2 (CYFIP1/2) expression analysis in autism}}. {Metab Brain Dis};2018 (May 11)
Cytoplasmic FMRP interacting proteins 1 and 2 (CYFIP1/2) have been previously shown to be associated with central nervous system (CNS) disorders such as autism spectrum disorder (ASD). Moreover, dysregulation of their expression levels results in disturbances in CNS maturation and neuronal interconnections. In the present study, we compared expression levels of CYFIP1/2 in peripheral blood of 30 ASD patients and 41 healthy subjects by means of real time PCR. Expression analysis showed significant over-expression of CYFIP1/2 in ASD patients compared with healthy subjects (Fold change = 3.252, P < 0.0001 and Fold change = 4.14, P = 0.001 respectively). Such over-expression was also seen for CYFIP1 in male and female patients when compared with the corresponding control subjects. In addition, a significant correlation was found between CYFIP1 transcript levels and age in female subjects. A significant correlation was detected between expression levels of these genes in control subjects. The current study provides further supports for contribution of CYFIP1/2 in the pathogenesis of ASD and potentiates it as a peripheral marker for ASD diagnosis. Future studies in larger sample sizes are needed to confirm the results of the current study. Lien vers le texte intégral (Open Access ou abonnement)
6. Vitorino M, Cunha N, Conceicao N, Cancela ML. {{Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome}}. {Mol Biol Rep};2018 (May 11)
Atypical Rett syndrome is a child neurodevelopmental disorder induced by mutations in CDKL5 gene and characterized by a progressive regression in development with loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability. At the moment, there is no cure for this pathology and little information is available concerning animal models capable of mimicking its phenotypes, thus the development of additional animal models should be of interest to gain more knowledge about the disease. Zebrafish has been used successfully as model organism for many human genetic diseases; however, no information is available concerning the spatial and temporal expression of cdkl5 orthologous in this organism. In the present study, we identified the developmental expression patterns of cdkl5 in zebrafish by quantitative PCR and whole-mount in situ hybridization. cdkl5 is expressed maternally at low levels during the first 24 h of development. After that the expression of the gene increases significantly and it starts to be expressed mainly in the nervous system and in several brain structures, such as telencephalon, mesencephalon and diencephalon. The expression patterns of cdkl5 in zebrafish is in accordance with the tissues known to be affected in humans and associated to symptoms and deficits observed in Rett syndrome patients thus providing the first evidence that zebrafish could be an alternative model to study the molecular pathways of this disease as well as to test possible therapeutic approaches capable of rescuing the phenotype.
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7. Yang J, Chen Y, Xiong X, Zhou X, Han L, Ni E, Wang W, Wang X, Zhao L, Shao D, Huang C. {{Peptidome Analysis Reveals Novel Serum Biomarkers for Children with Autism Spectrum Disorder in China}}. {Proteomics Clin Appl};2018 (May 13):e1700164.
PURPOSE: Autism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout one’s life. Early diagnosis is essential for ASD since early treatment can enable children with ASD to make significant gains in language and social skills, but remains challenging since there are currently no specific biomarkers of ASD. The study aimed to identify serum biomarkers for ASD. EXPERIMENTAL DESIGN: Serum of Han Chinese children with ASD (n = 68) and age-matched healthy controls (n = 80) was analyzed using magnetic bead-based separation combined with mass spectrum. RESULTS: Eight potential ASD serum biomarker peaks (m/z: 3886.69, 7775.12, 2381.71, 6638.63, 3319.17, 894.34, 4968.59, and 5910.53) with higher expression in ASD group were further identified as peptide regions of Plasma Serine Protease Inhibitor Precursor (SERPINA5), Platelet Factor 4 (PF4), Fatty Acid Binding Protein 1(FABP1), Apolipoprotein C-I Precursor (APOC1), Alpha-fetoprotein Precursor (AFP), Carboxypeptidase B2 (CPB2), Trace Amine-associated Receptor 6 (TAAR6) and Isoform1 of Fibrinogen Alpha Chain Precursor (FGA). The expression of identified proteins was validated by enzyme-linked immunosorbent assay (ELISA). CONCLUSIONS AND MEDICAL RELEVANCE: Our findings reveal the exceptional disease etiology of ASD from a serum proteomic perspective, and the identified proteins might be potential biomarkers for ASD diagnosis. This article is protected by copyright. All rights reserved.
