1. Cuomo BM, Vaz S, Lee EA, Thompson C, Rogerson JM, Falkmer T. {{Effectiveness of Sleep-Based Interventions for Children with Autism Spectrum Disorder: A Meta-synthesis}}. {Pharmacotherapy};2017 (Mar 04)
Sleep problems are common in children with autism spectrum disorder (ASD). This meta-synthesis collated eight previously published systematic reviews examining the efficacy of sleep interventions in children with ASD in an attempt to present a clear analysis of trialed interventions. The collated reviews consider five major groups of sleep interventions for children with ASD: melatonin therapy, pharmacologic treatments other than melatonin, behavioral interventions, parent education/education programs, and alternative therapies (massage therapy, aromatherapy, and multivitamin and iron supplementation). These eight reviews were based on 38 original studies and address the efficacy of interventions across 17 sleep problem domains. The results of this meta-synthesis suggest that no single intervention is effective across all sleep problems in children with ASD. However, melatonin, behavioral interventions, and parent education/education program interventions appear the most effective at ameliorating multiple domains of sleep problems compared with other interventions. Due to the heterogeneous causative factors and presentations of disordered sleep, further research into the effectiveness of sleep interventions may target specific phenotypic subgroups rather than a broad analysis across the general ASD population. Similarly, future research needs to consider the efficacy of different polytherapeutic approaches in order to provide clinicians with evidence to inform best practice. In the meantime, this review supports clinicians’ decision making for a majority of the identified sleep problems in the ASD population. This article is protected by copyright. All rights reserved.
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2. Garofoli F, Lombardi G, Orcesi S, Pisoni C, Mazzucchelli I, Angelini M, Balottin U, Stronati M. {{An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder}}. {J Autism Dev Disord};2017 (Mar 03)
The aim of this retrospective study, with prospective data collection, was to correlate congenital cytomegalovirus (CMV) infection with autism spectrum disorder (ASD) and to define its prevalence. Seventy proven congenitally-infected infants, born between 2007 and 2012, were referred to our centre for CMV diagnosis and follow-up, which consisted of a consolidated protocol allowing an early evaluation of autism. We considered four children 2-year old, two of whom, at the age of 3, were diagnosed with ASD demonstrating a 2-3 fold higher prevalence (2.86%), than that in general Italian population (0.66-1.36%).Our protocol enabled us to make the earliest diagnosis and highlight the role of the virus among other causes of autism, which may be a long term sequela of congenital CMV.
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3. Kaartinen M, Puura K, Helminen M, Salmelin R, Pelkonen E, Juujarvi P. {{Erratum to: Reactive aggression among children with and without autism spectrum disorder}}. {J Autism Dev Disord};2017 (Mar 03)
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4. Sandbank M, Woynaroski T, Watson LR, Gardner E, Keceli Kaysili B, Yoder P. {{Predicting Intentional Communication in Preverbal Preschoolers with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Mar 04)
Intentional communication has previously been identified as a value-added predictor of expressive language in preverbal preschoolers with autism spectrum disorder. In the present study, we sought to identify value-added predictors of intentional communication. Of five theoretically-motivated putative predictors of intentional communication measured early in the study (at study entry and 4 months after), three had significant zero-order correlations with later intentional communication (12 months after study entry) and were thus added to a linear model that predicted later intentional communication scores controlling for initial intentional communication scores at study entry. After controlling for initial intentional communication, early motor imitation was the only predictor that accounted for a significant amount of variance in children’s later intentional communication.
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5. Bitsika V, Sharpley CF. {{The association between parents’ ratings of ASD symptoms and anxiety in a sample of high-functioning boys and adolescents with Autism Spectrum Disorder}}. {Res Dev Disabil};2017 (Mar 01);63:38-45.
BACKGROUND: The relationship between symptoms of Autism Spectrum Disorder (ASD) and Generalised Anxiety Disorder (GAD) is complex and sometimes confounding. However, exploration of that relationship has significant potential to assist in treatment or avoidance of GAD by identifying ASD-related behaviours as ‘targets’ for intervention with anxious children as well as for preventative treatments that could be implemented into daily routines before children become anxious. To further understanding of this relationship, the association between parent-ratings of their sons’ ASD symptoms and GAD symptoms was investigated in two samples of boys with high-functioning ASD. METHODS: Parents of a sample of 90 pre-adolescent (M age=8.8yr) and 60 adolescent males (M age=14.6yr) completed the Social Responsiveness Scale (SRS) and the GAD subscale of the Child and Adolescent Symptom Inventory (CASI-4 GAD) about their sons. RESULTS: Pre-adolescents had significantly higher SRS scale scores than adolescents. For pre-adolescents, high levels of tension in social situations were associated with 3.5-times greater likelihood of having GAD; for adolescents, experiencing difficulty in changes in routine was associated with a 10-fold increase in risk of GAD. CONCLUSIONS: In addition to focussing upon GAD itself, preventative and treatment options aimed at reducing GAD or its risk might profitably recognise and focus upon these two aspects of ASD that are different across the two age groups but each of which was significantly associated with GAD severity and prevalence in this study.
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6. Zhou LT, Ye SH, Yang HX, Zhou YT, Zhao QH, Sun WW, Gao MM, Yi YH, Long YS. {{A novel role of fragile X mental retardation protein in pre-mRNA alternative splicing through RNA-binding protein 14}}. {Neuroscience};2017 (Feb 28);349:64-75.
Fragile X mental retardation protein (FMRP), an important RNA-binding protein responsible for fragile X syndrome, is involved in posttranscriptional control of gene expression that links with brain development and synaptic functions. Here, we reveal a novel role of FMRP in pre-mRNA alternative splicing, a general event of posttranscriptional regulation. Using co-immunoprecipitation and immunofluorescence assays, we identified that FMRP interacts with an alternative-splicing-associated protein RNA-binding protein 14 (RBM14) in a RNA-dependent fashion, and the two proteins partially colocalize in the nuclei of hippocampal neurons. We show that the relative skipping/inclusion ratio of the micro-exon L in the Protrudin gene and exon 10 in the Tau gene decreased in the hippocampus of Fmr1 knockout (KO) mice. Knockdown of either FMRP or RBM14 alters the relative skipping/inclusion ratio of Protrudin and Tau in cultured Neuro-2a cells, similar to that in the Fmr1 KO mice. Furthermore, overexpression of FMRP leads to an opposite pattern of the splicing, which can be offset by RBM14 knockdown. RNA immunoprecipitation assays indicate that FMRP promotes RBM14’s binding to the mRNA targets. In addition, overexpression of the long form of Protrudin or the short form of Tau promotes protrusion growth of the retinoic acid-treated, neuronal-differentiated Neuro-2a cells. Together, these data suggest a novel function of FMRP in the regulation of pre-mRNA alternative splicing through RBM14 that may be associated with normal brain function and FMRP-related neurological disorders.
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7. Shou XJ, Xu XJ, Zeng XZ, Liu Y, Yuan HS, Xing Y, Jia MX, Wei QY, Han SP, Zhang R, Han JS. {{A Volumetric and Functional Connectivity MRI Study of Brain Arginine-Vasopressin Pathways in Autistic Children}}. {Neurosci Bull};2017 (Apr);33(2):130-142.
Dysfunction of brain-derived arginine-vasopressin (AVP) systems may be involved in the etiology of autism spectrum disorder (ASD). Certain regions such as the hypothalamus, amygdala, and hippocampus are known to contain either AVP neurons or terminals and may play an important role in regulating complex social behaviors. The present study was designed to investigate the concomitant changes in autistic behaviors, circulating AVP levels, and the structure and functional connectivity (FC) of specific brain regions in autistic children compared with typically developing children (TDC) aged from 3 to 5 years. The results showed: (1) children with ASD had a significantly increased volume in the left amygdala and left hippocampus, and a significantly decreased volume in the bilateral hypothalamus compared to TDC, and these were positively correlated with plasma AVP level. (2) Autistic children had a negative FC between the left amygdala and the bilateral supramarginal gyri compared to TDC. The degree of the negative FC between amygdala and supramarginal gyrus was associated with a higher score on the clinical autism behavior checklist. (3) The degree of negative FC between left amygdala and left supramarginal gyrus was associated with a lowering of the circulating AVP concentration in boys with ASD. (4) Autistic children showed a higher FC between left hippocampus and right subcortical area compared to TDC. (5) The circulating AVP was negatively correlated with the visual and listening response score of the childhood autism rating scale. These results strongly suggest that changes in structure and FC in brain regions containing AVP may be involved in the etiology of autism.
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8. Wang M, Li H, Takumi T, Qiu Z, Xu X, Yu X, Bian WJ. {{Distinct Defects in Spine Formation or Pruning in Two Gene Duplication Mouse Models of Autism}}. {Neurosci Bull};2017 (Apr);33(2):143-152.
Autism spectrum disorder (ASD) encompasses a complex set of developmental neurological disorders, characterized by deficits in social communication and excessive repetitive behaviors. In recent years, ASD is increasingly being considered as a disease of the synapse. One main type of genetic aberration leading to ASD is gene duplication, and several mouse models have been generated mimicking these mutations. Here, we studied the effects of MECP2 duplication and human chromosome 15q11-13 duplication on synaptic development and neural circuit wiring in the mouse sensory cortices. We showed that mice carrying MECP2 duplication had specific defects in spine pruning, while the 15q11-13 duplication mouse model had impaired spine formation. Our results demonstrate that spine pathology varies significantly between autism models and that distinct aspects of neural circuit development may be targeted in different ASD mutations. Our results further underscore the importance of gene dosage in normal development and function of the brain.
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9. Zhou B, Zhou H, Wu L, Zou X, Luo X, Fombonne E, Wang Y, Yan W, Xu X. {{Assessing the Accuracy of the Modified Chinese Autism Spectrum Rating Scale and Social Responsiveness Scale for Screening Autism Spectrum Disorder in Chinese Children}}. {Neurosci Bull};2017 (Apr);33(2):168-174.
The reported prevalence of autism spectrum disorder (ASD) has been increasing rapidly in many parts of the world. However, data on its prevalence in China are largely missing. Here, we assessed the suitability of the modified Chinese version of a newly-developed ASD screening tool, the Modified Chinese Autism Spectrum Rating Scales (MC-ASRS) in screening for ASD in Chinese children aged 6-12 years, through comparison with the Social Responsiveness Scale (SRS) that has been widely used for ASD screening. We recruited the parents/caregivers of 1588 typically-developing children and 190 children with ASD aged 6-12 years to complete the MC-ASRS and SRS, and evaluated the validity of both scales in discriminating children with ASD from those developing typically. The results showed that MC-ASRS performed as well as SRS in sensitivity, specificity, and area-under-the-curve (both >0.95) in receiver operating characteristic analysis, with a fair false-negative rate. These results suggest that MC-ASRS is a promising tool for screening for children with ASD in the general Chinese population.
