1. Benson PR. {{The impact of child and family stressors on the self-rated health of mothers of children with autism spectrum disorder: Associations with depressed mood over a 12-year period}}. {Autism}. 2017: 1362361317697656.
Employing a cohort sequential design and multilevel modeling, the effects of child and family stressors and maternal depressed mood on the self-rated health of 110 mothers of children with autism spectrum disorder were assessed over a 12-year period when children in the study were 7-19 years old. Findings indicate a significant decline in self-rated health over time. In addition, child and family stressors, as well as maternal depressed mood, exerted significant between-persons effects on self-rated health such that mothers who reported more stressors and depressed mood across the study period were less likely to rate themselves in better health across that period. In addition, a significant within-person relationship between maternal depressed mood and self-rated health was found, indicating that at times when mothers reported higher levels of depressed mood than usual (their personal average across the study), they were significantly less likely to report better self-rated health. Finally, maternal depressed mood partially mediated the between-persons effects of child and family stressors on self-rated health such that increased stressors led to increased maternal depressed mood which, in turn, led to poorer maternal self-rated health. Findings suggest that chronic stressors erode maternal health over time and that depression may be an important mechanism linking stressors to decreased maternal health.
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2. Bralten J, van Hulzen KJ, Martens MB, Galesloot TE, Arias Vasquez A, Kiemeney LA, Buitelaar JK, Muntjewerff JW, Franke B, Poelmans G. {{Autism spectrum disorders and autistic traits share genetics and biology}}. {Mol Psychiatry}. 2017.
This corrects the article DOI: 10.1038/mp.2017.98.
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3. Cravero C, Guinchat V, Xavier J, Meunier C, Diaz L, Mignot C, Doummar D, Chantot-Bastaraud S, Consoli A, Cohen D. {{Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness}}. {Case Rep Psychiatry}. 2017; 2017: 7582780.
We report the case of a young boy with nonverbal autism and intellectual disability, with a rare de novo 1q21.3 microdeletion. The patient had early and extreme self-injurious behaviours that led to blindness, complicated by severe developmental regression. A significant reduction in the self-injurious behaviours and the recovery of developmental dynamics were attained in a multidisciplinary neurodevelopmental inpatient unit. Improvement was obtained after managing all causes of somatic pains, using opiate blockers and stabilizing the patient’s mood. We offered both sensorimotor developmental approach with therapeutic body wrap and specific psychoeducation adapted to his blindness condition for improving his communication abilities.
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4. Engelhardt PE, Alfridijanta O, McMullon MEG, Corley M. {{Speaker-Versus Listener-Oriented Disfluency: A Re-examination of Arguments and Assumptions from Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
We re-evaluate conclusions about disfluency production in high-functioning forms of autism spectrum disorder (HFA). Previous studies examined individuals with HFA to address a theoretical question regarding speaker- and listener-oriented disfluencies. Individuals with HFA tend to be self-centric and have poor pragmatic language skills, and should be less likely to produce listener-oriented disfluency. However, previous studies did not account for individual differences variables that affect disfluency. We show that both matched and unmatched controls produce fewer repairs than individuals with HFA. For silent pauses, there was no difference between matched controls and HFA, but both groups produced more than unmatched controls. These results identify limitations in prior research and shed light on the relationship between autism spectrum disorders and disfluent speech.
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5. Estes A, Munson J, John TS, Dager SR, Rodda A, Botteron K, Hazlett H, Schultz RT, Zwaigenbaum L, Piven J, Guralnick MJ. {{Parent Support of Preschool Peer Relationships in Younger Siblings of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Preschool-aged siblings of children with ASD are at high-risk (HR) for ASD and related challenges, but little is known about their emerging peer competence and friendships. Parents are the main providers of peer-relationship opportunities during preschool. Understanding parental challenges supporting early peer relationships is needed for optimal peer competence and friendships in children with ASD. We describe differences in peer relationships among three groups of preschool-aged children (15 HR-ASD, 53 HR-NonASD, 40 low-risk, LR), and examine parent support activities at home and arranging community-based peer activities. Children with ASD demonstrated precursors to poor peer competence and friendship outcomes. Parents in the HR group showed resilience in many areas, but providing peer opportunities for preschool-age children with ASD demanded significant adaptations.
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6. Foss-Feig JH, Schauder KB, Key AP, Wallace MT, Stone WL. {{Audition-specific temporal processing deficits associated with language function in children with autism spectrum disorder}}. {Autism Res}. 2017.
Sensory processing alterations are highly prevalent in autism spectrum disorder (ASD). Neurobiologically-based theories of ASD propose that abnormalities in the processing of temporal aspects of sensory input could underlie core symptoms of ASD. For example, rapid auditory temporal processing is critical for speech perception, and language difficulties are central to the social communication deficits defining the disorder. This study assessed visual and auditory temporal processing abilities and tested their relation to core ASD symptoms. 53 children (26 ASD, 27 TD) completed visual and auditory psychophysical gap detection tasks to measure gap detection thresholds (i.e., the minimum interval between sequential stimuli needed for individuals to perceive an interruption between the stimuli) in each domain. Children were also administered standardized language assessments such that the relation between individual differences in auditory gap detection thresholds and degree of language and communication difficulties among children with ASD could be assessed. Children with ASD had substantially higher auditory gap detection thresholds compared to children with TD, and auditory gap detection thresholds were correlated significantly with several measures of language processing in this population. No group differences were observed in the visual temporal processing. Results indicate a domain-specific impairment in rapid auditory temporal processing in ASD that is associated with greater difficulties in language processing. Findings provide qualified support for temporal processing theories of ASD and highlight the need for future research testing the nature, extent, and universality of auditory temporal processing deficits in this population. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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7. Geoffray MM, Nicolas A, Speranza M, Georgieff N. {{Are circadian rhythms new pathways to understand Autism Spectrum Disorder?}}. {J Physiol Paris}. 2017.
Autism Spectrum Disorder (ASD) is a frequent neurodevelopmental disorder. ASD is probably the result of intricate interactions between genes and environment altering progressively the development of brain structures and functions. Circadian rhythms are a complex intrinsic timing system composed of almost as many clocks as there are body cells. They regulate a variety of physiological and behavioral processes such as the sleep-wake rhythm. ASD is often associated with sleep disorders and low levels of melatonin. This first point raises the hypothesis that circadian rhythms could have an implication in ASD etiology. Moreover, circadian rhythms are generated by auto-regulatory genetic feedback loops, driven by transcription factors CLOCK and BMAL1, who drive transcription daily patterns of a wide number of clock-controlled genes (CCGs) in different cellular contexts across tissues. Among these, are some CCGs coding for synapses molecules associated to ASD susceptibility. Furthermore, evidence emerges about circadian rhythms control of time brain development processes.
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8. Guerini FR, Bolognesi E, Chiappedi M, Ghezzo A, Manca S, Zanette M, Sotgiu S, Mensi MM, Zanzottera M, Agliardi C, Costa AS, Balottin U, Clerici M. {{HLA-G *14bp insertion and the KIR2DS1-HLAC2 complex impact on behavioral impairment in children with Autism Spectrum Disorders}}. {Neuroscience}. 2017.
Activating KIR-HLA-C ligand complexes and HLA-G *14bp insertion/deletion (+/-) polymorphism were associated to Autism Spectrum Disorders (ASD) and were suggested to correlate with inflammation during fetal development. We evaluated whether HLA-G *14bp(+/-) and KIRs-HLA-C complexes are associated with cognitive and behavioral scores and EEG profile in 119 ASD children (58 from Sardinia, 61 from Peninsular Italy). KIR2DS1-C2; KIR2DS2-C1; KIR2DL1-C2; KIR2DL2-C1; KIR2DL3-C1 and HLA-G *14bp(+/-) were molecularly genotyped by SSP and gel electrophoresis. Univariate linear model analysis adjusted for age, gender and provenience showed statistically higher scores of Childhood Autism Rating Scale (CARS) and Autistic Core Behavior in KIR2DS1-C2+/HLA-G *14bp+ASD children (43.7+/-1.5, p=0.03; 3.3+/-0.1, p=0.03, respectively). These results suggested a synergistic polygenic association of KIR2DS1-HLAC2+/HLA-G *14bp+ pattern with behavioral impairment in ASD children.
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9. Hollis F, Kanellopoulos AK, Bagni C. {{Mitochondrial dysfunction in Autism Spectrum Disorder: clinical features and perspectives}}. {Curr Opin Neurobiol}. 2017; 45: 178-87.
Autism Spectrum Disorder (ASD) is a prototypic pervasive developmental disorder characterized by social interaction, and communication deficits, repetitive, stereotypic patterns of behavior, and impairments in language and development. Clinical studies have identified mitochondrial disturbances at the levels of DNA, activity, complexes, oxidative stress, and metabolites in blood and urine of ASD patients. However, these observations from postmortem brains or peripheral tissues do not provide a direct link between autism and mitochondria. The synaptic abnormality of autistic patients has not been investigated yet. Here we review the findings of clinical studies investigating mitochondrial involvement in ASD patients, focusing particularly on the brain and the limitations and future directions needed in order to fully understand the role of mitochondria in ASD pathology.
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10. Kerley CP, Power C, Gallagher L, Coghlan D. {{Lack of effect of vitamin D3 supplementation in autism: a 20-week, placebo-controlled RCT}}. {Arch Dis Child}. 2017.
OBJECTIVES: Data suggest a potential role for vitamin D in autism spectrum disorder (ASD). We wanted to assess the effect of vitamin D3 supplementation compared with placebo in children with ASD. DESIGN: This was a double-blind, randomised, placebo-controlled trial. SETTING: A paediatric outpatient centre at high latitude over the winter season in Dublin, Ireland (53 degrees N). PATIENTS: 42 children with ASD. INTERVENTIONS: 2000 IU vitamin D3 supplementation or placebo daily for 20 weeks. MAIN OUTCOME MEASURES: Assessments were completed at baseline and after 20 weeks of supplementation. The primary outcome was the stereotypic behaviour subscale from the Aberrant Behaviour Checklist (ABC). Secondary exploratory outcomes included additional subscales from the ABC, the Social Responsiveness Scale and rating on the Developmental Disabilities-Children’s Global Assessment Scale (DD-CGAS) as well as biochemical parameters of total vitamin D status (25-hydroxyvitamin D (25(OH)D)), immunity and systemic inflammation. RESULTS: 38 children completed the trial. Baseline 25(OH)D was 54.2+/-19.7 nmol/L. Following vitamin D3 supplementation, there was a significant increase in 25(OH)D to 83.8 nmol/L (p=0.0016) but no effect on the primary endpoint. However, there was an improvement in self-care on DD-CGAS (p=0.02). In contrast, there was also a trend toward decreased inappropriate speech in the placebo group (p=0.08). CONCLUSION: Vitamin D supplementation had no effect on the primary outcome with limited and inconsistent effects in children with ASD. Considering the other promising data as well as the relative safety and cheapness of vitamin D supplementation, further trials are warranted. TRIAL REGISTRATION: NCT02508922.
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11. Marin-Valencia I, Novarino G, Johansen A, Rosti B, Issa MY, Musaev D, Bhat G, Scott E, Silhavy JL, Stanley V, Rosti RO, Gleeson JW, Imam FB, Zaki MS, Gleeson JG. {{A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features}}. {J Med Genet}. 2017.
BACKGROUND: Transport protein particle (TRAPP) is a multisubunit complex that regulates membrane trafficking through the Golgi apparatus. The clinical phenotype associated with mutations in various TRAPP subunits has allowed elucidation of their functions in specific tissues. The role of some subunits in human disease, however, has not been fully established, and their functions remain uncertain. OBJECTIVE: We aimed to expand the range of neurodevelopmental disorders associated with mutations in TRAPP subunits by exome sequencing of consanguineous families. METHODS: Linkage and homozygosity mapping and candidate gene analysis were used to identify homozygous mutations in families. Patient fibroblasts were used to study splicing defect and zebrafish to model the disease. RESULTS: We identified six individuals from three unrelated families with a founder homozygous splice mutation in TRAPPC6B, encoding a core subunit of the complex TRAPP I. Patients manifested a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features, and showed splicing defect. Zebrafish trappc6b morphants replicated the human phenotype, displaying decreased head size and neuronal hyperexcitability, leading to a lower seizure threshold. CONCLUSION: This study provides clinical and functional evidence of the role of TRAPPC6B in brain development and function.
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12. McIntosh CE, Thomas CM, Wilczynski S, McIntosh DE. {{Increasing Nursing Students’ Knowledge of Autism Spectrum Disorder by Using a Standardized Patient}}. {Nurs Educ Perspect}. 2017.
Nursing students participated in a simulation using a standardized patient role-playing an adolescent with autism spectrum disorder (ASD). The researchers used student feedback to develop and improve a simulation aimed at increasing learner skills and knowledge for treating ASD patients. Students indicated that the standardized patient provided realism not obtained when using static manikins or high-fidelity simulators. Students strongly agreed or agreed that classroom instruction prior to the simulation was important to increasing their knowledge of ASD. Overall, the simulation provided students an opportunity to practice and develop their clinical skills in caring for patients with ASD.
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13. Tang J, Yu Y, Yang W. {{Long noncoding RNA and its contribution to autism spectrum disorders}}. {CNS Neurosci Ther}. 2017.
Recent studies have indicated that long noncoding RNAs (lncRNAs) play important roles in multiple processes, such as epigenetic regulation, gene expression regulation, development, nutrition-related and other diseases, toxic response, and response to drugs. Although the functional roles and mechanisms of several lncRNAs have been discovered, a better understanding of the vast majority of lncRNAs remains elusive. To understand the functional roles and mechanisms of lncRNAs is critical because these transcripts represent the majority of the transcriptional output of the mammalian genome. Recent studies have also suggested that lncRNAs are more abundant in the human brain and are involved in neurodevelopment and neurodevelopmental disorders, including autism spectrum disorders (ASDs). In this study, we review several known functions of lncRNAs and the potential contribution of lncRNAs to ASDs and to other genetic syndromes that have a similar clinical presentation to ASDs, such as fragile X syndrome and Rett syndrome.
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14. Ventola P, Lei J, Paisley C, Lebowitz E, Silverman W. {{Parenting a Child with ASD: Comparison of Parenting Style Between ASD, Anxiety, and Typical Development}}. {J Autism Dev Disord}. 2017.
Parenting children with ASD has a complex history. Given parents’ increasingly pivotal role in children’s treatment, it is critical to consider parental style and behaviours. This study (1) compares parenting style of parents of children with ASD, parents of children with anxiety disorders, and parents of typically developing (TD) children and (2) investigates contributors to parenting style within and between groups. Parents of children with anxiety had a distinct parenting style compared to ASD and TD parents. Unique relationships between child symptoms and parenting behaviours emerged across the three groups. Understanding factors that impact parenting between and within clinical groups can guide the development of interventions better tailored to support the needs of parents, particularly parents of children with ASD.
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15. Wolff JJ, Jacob S, Elison JT. {{The journey to autism: Insights from neuroimaging studies of infants and toddlers}}. {Dev Psychopathol}. 2017: 1-17.
By definition, autism spectrum disorder (ASD) is a neurodevelopmental disorder that emerges during early childhood. It is during this time that infants and toddlers transition from appearing typical across multiple domains to exhibiting the behavioral phenotype of ASD. Neuroimaging studies focused on this period of development have provided crucial knowledge pertaining to this process, including possible mechanisms underlying pathogenesis of the disorder and offering the possibility of prodromal or presymptomatic prediction of risk. In this paper, we review findings from structural and functional brain imaging studies of ASD focused on the first years of life and discuss implications for next steps in research and clinical applications.
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16. Won J, Jin Y, Choi J, Park S, Lee TH, Lee SR, Chang KT, Hong Y. {{Melatonin as a Novel Interventional Candidate for Fragile X Syndrome with Autism Spectrum Disorder in Humans}}. {Int J Mol Sci}. 2017; 18(6).
Fragile X syndrome (FXS) is the most common monogenic form of autism spectrum disorder (ASD). FXS with ASD results from the loss of fragile X mental retardation (fmr) gene products, including fragile X mental retardation protein (FMRP), which triggers a variety of physiological and behavioral abnormalities. This disorder is also correlated with clock components underlying behavioral circadian rhythms and, thus, a mutation of the fmr gene can result in disturbed sleep patterns and altered circadian rhythms. As a result, FXS with ASD individuals may experience dysregulation of melatonin synthesis and alterations in melatonin-dependent signaling pathways that can impair vigilance, learning, and memory abilities, and may be linked to autistic behaviors such as abnormal anxiety responses. Although a wide variety of possible causes, symptoms, and clinical features of ASD have been studied, the correlation between altered circadian rhythms and FXS with ASD has yet to be extensively investigated. Recent studies have highlighted the impact of melatonin on the nervous, immune, and metabolic systems and, even though the utilization of melatonin for sleep dysfunctions in ASD has been considered in clinical research, future studies should investigate its neuroprotective role during the developmental period in individuals with ASD. Thus, the present review focuses on the regulatory circuits involved in the dysregulation of melatonin and disruptions in the circadian system in individuals with FXS with ASD. Additionally, the neuroprotective effects of melatonin intervention therapies, including improvements in neuroplasticity and physical capabilities, are discussed and the molecular mechanisms underlying this disorder are reviewed. The authors suggest that melatonin may be a useful treatment for FXS with ASD in terms of alleviating the adverse effects of variations in the circadian rhythm.
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17. Zhang Y, Cui W, Zhai Q, Zhang T, Wen X. {{N-acetylcysteine ameliorates repetitive/stereotypic behavior due to its antioxidant properties without activation of the canonical Wnt pathway in a valproic acid-induced rat model of autism}}. {Mol Med Rep}. 2017.
N-acetylcysteine (NAC) is widely used as an antioxidant, and previous studies have suggested that it may have potential as an alternative therapeutic strategy for the treatment of patients with autism. However, the exact effects of NAC administration on the development of autism, as well as the molecular mechanisms underlying its actions, have yet to be fully elucidated. The present study aimed to investigate the effects of NAC on the oxidative status of rats in a valproic acid (VPA)induced model of autism, and to examine the involvement of the canonical Wnt signaling pathway in the actions of NAC. Rats exposed to VPA were monitored for behavioral changes, and oxidative stress indicators and key molecules of the canonical Wnt pathway were investigated using colorimetric and western blot analysis, respectively. The present results demonstrated that NAC ameliorated repetitive and stereotypic activity in autism model rats. Furthermore, NAC was revealed to relieve oxidative stress, as demonstrated by the increased glutathione and reduced malondialdehyde levels compared with VPAtreated rats. However, NAC did not appear to affect the activity of the canonical Wnt signaling pathway. The present findings suggested that the beneficial effects of NAC in autism may be associated with its antioxidative properties, and may not be mediated by the canonical Wnt pathway. However, it may be hypothesized that the canonical Wnt pathway can be indirectly regulated by NAC through the activation of other signaling pathways or upstream factors. Taken together, the present study has contributed to the elucidation of the molecular mechanisms that underlie the actions of NAC in autism, suggesting its potential for the development of novel therapeutic strategies for the treatment of patients with autism.
