1. Ali A, Cui X, Eyles D. {{Developmental Vitamin D deficiency and Autism: Putative pathogenic mechanisms}}. {J Steroid Biochem Mol Biol};2016 (Dec 24)
Autism is a neurodevelopmental disease that presents in early life. Despite a considerable amount of studies, the neurobiological mechanisms underlying autism remain obscure. Both genetic and environmental factors are involved in the development of autism. Vitamin D deficiency is emerging as a consistently reported risk factor in children. One reason for the prominence now being given to this risk factor is that it would appear to interact with several other epidemiological risk factors for autism. Vitamin D is an active neurosteroid and plays crucial neuroprotective roles in the developing brain. It has important roles in cell proliferation and differentiation, immunomodulation, regulation of neurotransmission and steroidogenesis. Animal studies have suggested that transient prenatal vitamin D deficiency is associated with altered brain development. Here we review the potential neurobiological mechanisms linking prenatal vitamin D deficiency and autism and also discuss what future research targets must now be addressed.
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2. DeWitt JJ, Hecht PM, Grepo N, Wilkinson B, Evgrafov OV, Morris KV, Knowles JA, Campbell DB. {{Transcriptional Gene Silencing of the Autism-Associated Long Noncoding RNA MSNP1AS in Human Neural Progenitor Cells}}. {Dev Neurosci};2016 (Dec 29)
The long noncoding RNA MSNP1AS (moesin pseudogene 1, antisense) is a functional element that was previously associated with autism spectrum disorder (ASD) with genome-wide significance. Expression of MSNP1AS was increased 12-fold in the cerebral cortex of individuals with ASD and 22-fold in individuals with a genome-wide significantly associated ASD genetic marker on chromosome 5p14.1. Overexpression of MSNP1AS in human neuronal cells caused decreased expression of moesin protein, which is involved in neuronal process stability. In this study, we hypothesize that MSNP1AS knockdown impacts global transcriptome levels. We transfected the human neural progenitor cell line SK- N-SH with constructs that caused a 50% suppression of MSNP1AS expression. After 24 h, cells were harvested for total RNA isolation. Strand-specific RNA sequencing analysis indicated altered expression of 1,352 genes, including altered expression of 318 genes following correction for multiple comparisons. Expression of the OAS2 gene was increased >150-fold, a result that was validated by quantitative PCR. Gene ontology analysis of the 318 genes with altered expression following correction for multiple comparisons indicated that upregulated genes were significantly enriched for genes involved in immune response, and downregulated genes were significantly enriched for genes involved in chromatin remodeling. These data indicate multiple transcriptional and translational functions of MSNP1AS that impact ASD-relevant biological processes. Chromatin remodeling and immune response are biological processes implicated by genes with rare mutations associated with ASD. Our data suggest that the functional elements implicated by association of common genetic variants impact the same biological processes, suggesting a possible shared common molecular pathway of ASD.
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3. Dieleman LM, De Pauw SS, Soenens B, Beyers W, Prinzie P. {{Examining bidirectional relationships between parenting and child maladjustment in youth with autism spectrum disorder: A 9-year longitudinal study}}. {Dev Psychopathol};2016 (Dec 29):1-15.
Longitudinal bidirectional effects between parents and children are usually studied in samples of typically developing children, but remain understudied in families with a child with autism spectrum disorder. This three-wave longitudinal study examined how parents and children with autism spectrum disorder influence one another, relying on parent reports of parenting behaviors and children’s problem behaviors across 9 years, in a sample of 139 youngsters (M age Time 1 = 10.2 years, 83% boys). Cross-lagged analyses indicated that children’s externalizing problems at Time 1 predicted negative controlling parenting 6 years later (Time 2) that in turn predicted externalizing problems 3 years later (Time 3). Negative parental control at Time 1 also increased the risk for internalizing problems at Time 2. It was surprising that externalizing problems at Time 2 also predicted positive parental involvement at Time 3. Thus, although results indicate that externalizing problems generally elicit maladaptive reactions in parents, this study also suggests that parents adjust their way of reacting to externalizing child problems as their child reaches adolescence/emerging adulthood. Implications for future research on parenting dynamics in families with a child with autism spectrum disorder are discussed.
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4. Gabbani T, Marsico M, Marocchi M, Biagini MR. {{Isolated hypoganglionosis in young man with autism}}. {Dig Liver Dis};2016 (Oct 18)
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5. Geier DA, Kern JK, Geier MR. {{A Two-Phase Case-Control Study of Autism Risk Among Children Born From the Late 1990s Through the Early 2000s in the United States}}. {Med Sci Monit};2016 (Dec 29);22:5196-5202.
BACKGROUND This study evaluated the hypothesis that the 1999 recommendation by the American Academy of Pediatrics (AAP) and US Public Health Service (PHS) to reduce exposure to mercury (Hg) from Thimerosal in US vaccines would be associated with a reduction in the long-term risk of being diagnosed with autism. MATERIAL AND METHODS A two-phase assessment utilizing a case (n=73) -control (n=11,783) study in the Vaccine Adverse Event Reporting System (VAERS) database (for hypothesis generating) and a more rigorous, independent matched case (n=40) -control (n=40) study (hypothesis testing) was undertaken. RESULTS Analysis of the VAERS database using logistic regression revealed that the odds ratio (OR) for being an autism case in the VAERS database significantly decreased with a more recent year of vaccination in comparison to controls (OR=0.65) from 1998 to 2003. Sex-separated analyses revealed similar significant effects for males (OR=0.62) and females (OR=0.71). Analyses of the matched case-control data revealed, using the t-test statistic, that the mean date of birth among cases diagnosed with an autism spectrum disorder (ASD) (2000.5+/-1.2) was significantly more in the past than in controls (2001.1+/-1.3). Logistic regression also revealed that the OR for being diagnosed with ASD significantly decreased with a more recent date of birth in comparison to controls (OR=0.67) from 1998-2003. CONCLUSIONS This study reveals that the risk of autism during from the late1990s to early 2000s in the US significantly decreased with reductions in Hg exposure from Thimerosal-containing childhood vaccines, but future studies should examine this phenomenon in other US populations. Vaccine programs have significantly reduced the morbidity and mortality associated with infectious disease, but Thimerosal should be removed from all vaccines.
6. Ghiassian S, Greiner R, Jin P, Brown MR. {{Using Functional or Structural Magnetic Resonance Images and Personal Characteristic Data to Identify ADHD and Autism}}. {PLoS One};2016;11(12):e0166934.
A clinical tool that can diagnose psychiatric illness using functional or structural magnetic resonance (MR) brain images has the potential to greatly assist physicians and improve treatment efficacy. Working toward the goal of automated diagnosis, we propose an approach for automated classification of ADHD and autism based on histogram of oriented gradients (HOG) features extracted from MR brain images, as well as personal characteristic data features. We describe a learning algorithm that can produce effective classifiers for ADHD and autism when run on two large public datasets. The algorithm is able to distinguish ADHD from control with hold-out accuracy of 69.6% (over baseline 55.0%) using personal characteristics and structural brain scan features when trained on the ADHD-200 dataset (769 participants in training set, 171 in test set). It is able to distinguish autism from control with hold-out accuracy of 65.0% (over baseline 51.6%) using functional images with personal characteristic data when trained on the Autism Brain Imaging Data Exchange (ABIDE) dataset (889 participants in training set, 222 in test set). These results outperform all previously presented methods on both datasets. To our knowledge, this is the first demonstration of a single automated learning process that can produce classifiers for distinguishing patients vs. controls from brain imaging data with above-chance accuracy on large datasets for two different psychiatric illnesses (ADHD and autism). Working toward clinical applications requires robustness against real-world conditions, including the substantial variability that often exists among data collected at different institutions. It is therefore important that our algorithm was successful with the large ADHD-200 and ABIDE datasets, which include data from hundreds of participants collected at multiple institutions. While the resulting classifiers are not yet clinically relevant, this work shows that there is a signal in the (f)MRI data that a learning algorithm is able to find. We anticipate this will lead to yet more accurate classifiers, over these and other psychiatric disorders, working toward the goal of a clinical tool for high accuracy differential diagnosis.
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7. Jacobsen A, DeNiro K. {{Rash and Arthralgias in a Teenager With Autism}}. {JAMA Pediatr};2017 (Jan 01);171(1):89-90.
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8. Navarro F, Liu Y, Rhoads JM. {{Can probiotics benefit children with autism spectrum disorders?}}. {World J Gastroenterol};2016 (Dec 14);22(46):10093-10102.
Children with autism are commonly affected by gastrointestinal problems such as abdominal pain, constipation and diarrhea. In recent years, there has been a growing interest in the use of probiotics in this population, as it hypothetically may help to improve bowel habits and the behavioral and social functioning of these individuals. The gut microbiome plays an important role in the pathophysiology of organic as well as functional gastrointestinal disorders. Microbial modification with the use of antibiotics, probiotics, and fecal transplantation have been effective in the treatment of conditions such as recurrent Clostridium difficile infection, pouchitis, and irritable bowel syndrome. The present review presents a number of reported clinical, immunological and microbiome-related changes seen in children with autism compared to normally developed children. It also discusses gut inflammation, permeability concerns, and absorption abnormalities that may contribute to these problems. Most importantly, it discusses evidence, from human and animal studies, of a potential role of probiotics in the treatment of gastrointestinal symptoms in children with autism.
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9. Oliver C, Licence L, Richards C. {{Self-injurious behaviour in people with intellectual disability and autism spectrum disorder}}. {Curr Opin Psychiatry};2016 (Dec 26)
PURPOSE OF REVIEW: This review summarises the recent trends in research in the field of self-injurious behaviour in people with intellectual disability and autism spectrum disorder. RECENT FINDINGS: New data on incidence, persistence and severity add to studies of prevalence to indicate the large scale of the clinical need. A number of person characteristics have been repeatedly identified in prevalence and cohort studies that: can be considered as risk markers (e.g. stereotyped behaviour, autism spectrum disorder) and indicate possible causal mechanisms (e.g. sleep disorder, anxiety). Studies have started to integrate traditional operant learning paradigms with known person characteristics and reviews and meta-analyses of applied behaviour analytic procedures can now inform practice. SUMMARY: Despite these positive developments interventions and appropriate support falls far short of the required need. Expansions in applied research are warranted to develop and evaluate innovative service delivery models that can translate knowledge of risk markers and operant learning paradigms into widespread, low cost routine clinical practice. Alongside this, further pure research is needed to elucidate the direction of causality of implicated risk factors, in order to understand and intervene more effectively in self-injury.
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10. Wasfi R, Steinmetz-Wood M, Levinson D. {{Measuring the transportation needs of people with developmental disabilities: A means to social inclusion}}. {Disabil Health J};2016 (Oct 20)
BACKGROUND: One of the major causes of social exclusion for people with developmental disability (PDD) is the inability to access different activities due to inadequate transportation services. OBJECTIVE: This research paper identifies transportation needs, and reasons for unmet, but desired untaken trips of adults with developmental disabilities in Hennepin County, Minnesota. We hypothesize that PDD cannot make trips they want to make due to personal and neighborhood characteristics. METHODS: A survey measuring existing travel behavior and unmet transportation needs of PDD (N = 114) was conducted. The survey included both demographic and attitudinal questions as well as a travel diary to record both actual and desired but untaken trips. Logistic regression analyses were conducted to determine reasons associated with their inability to make desired, but untaken trips. RESULTS: Most respondents did not live independently. More than half of the surveyed population worked every day and recreation trips occurred at least once a week for about two-thirds of the population. About 46% were unable to make trips they needed to make. Public transit posed physical and intellectual difficulties, however the presence of public transit in neighborhoods decreased odds of not making trips. Concerns about Paratransit services were also reported. CONCLUSION: Findings from this study can be of value to transportation engineers and planners interested in shedding light on the needs of a marginalized group that is rarely studied and have special transport needs that should be met to ensure their social inclusion in society.
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11. Wolford E, Pesonen AK, Heinonen K, Lahti M, Pyhala R, Lahti J, Hovi P, Strang-Karlsson S, Eriksson JG, Andersson S, Jarvenpaa AL, Kajantie E, Raikkonen K. {{Autism spectrum traits and visual processing in young adults with very low birth weight: the Helsinki Study of Very Low Birth Weight adults}}. {J Dev Orig Health Dis};2016 (Dec 29):1-7.
Visual processing problems may be one underlying factor for cognitive impairments related to autism spectrum disorders (ASDs). We examined associations between ASD-traits (Autism-Spectrum Quotient) and visual processing performance (Rey-Osterrieth Complex Figure Test; Block Design task of the Wechsler Adult Intelligence Scale-III) in young adults (mean age=25.0, s.d.=2.1 years) born preterm at very low birth weight (VLBW; <1500 g) (n=101) or at term (n=104). A higher level of ASD-traits was associated with slower global visual processing speed among the preterm VLBW, but not among the term-born group (P<0.04 for interaction). Our findings suggest that the associations between ASD-traits and visual processing may be restricted to individuals born preterm, and related specifically to global, not local visual processing. Our findings point to cumulative social and neurocognitive problems in those born preterm at VLBW. Lien vers le texte intégral (Open Access ou abonnement)
