1. Bradstreet JJ, Pacini S, Ruggiero M. {{A New Methodology of Viewing Extra-Axial Fluid and Cortical Abnormalities in Children with Autism via Transcranial Ultrasonography}}. {Front Hum Neurosci};2014 (Jan 15);7:934.
Background: Autism spectrum disorders (ASDs) are developmental conditions of uncertain etiology which have now affected more than 1% of the school-age population of children in many developed nations. Transcranial ultrasonography (TUS) via the temporal bone appeared to be a potential window of investigation to determine the presence of both cortical abnormalities and increased extra-axial fluid (EAF). Methods: TUS was accomplished using a linear probe (10-5 MHz). Parents volunteered ASD subjects (N = 23; males 18, females 5) for evaluations (mean = 7.46 years +/- 3.97 years), and 15 neurotypical siblings were also examined (mean = 7.15 years +/- 4.49 years). Childhood Autism Rating Scale (CARS2((R))) scores were obtained and the ASD score mean was 48.08 + 6.79 (Severe). Results: Comparisons of the extra-axial spaces indicated increases in the ASD subjects. For EAF we scored based on the gyral summit distances between the arachnoid membrane and the cortical pia layer (subarachnoid space): (1) <0.05 cm, (2) 0.05-0.07 cm, (3) 0.08-0.10 cm, (4) >0.10 cm. All of the neurotypical siblings scored 1, whereas the ASD mean score was 3.41 +/- 0.67. We also defined cortical dysplasia as the following: hypoechoic lesions within the substance of the cortex, or disturbed layering within the gray matter. For cortical dysplasia we scored: (1) none observed, (2) rare hypoechogenic lesions and/or mildly atypical cortical layering patterns, (3) more common, but separated areas of cortical hypoechogenic lesions, (4) very common or confluent areas of cortical hypoechogenicity. Again all of the neurotypical siblings scored 1, while the ASD subjects’ mean score was 2.79 +/- 0.93. Conclusion: TUS may be a useful screening technique for children at potential risk of ASDs which, if confirmed with repeated studies and high resolution MRI, provides rapid, non-invasive qualification of EAF, and cortical lesions.
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2. Doyle-Thomas KA, Card D, Soorya LV, Wang AT, Fan J, Anagnostou E. {{Metabolic mapping of deep brain structures and associations with symptomatology in autism spectrum disorders}}. {Res Autism Spectr Disord};2014 (Jan);8(1):44-51.
Structural neuroimaging studies in autism report atypical volume in deep brain structures which are related to symptomatology. Little is known about metabolic changes in these regions, and how they vary with age and sex, and/or relate to clinical behaviors. Using magnetic resonance spectroscopy we measured N-acetylaspartate, choline, creatine, myoinositol and glutamate in the caudate, putamen, and thalamus of 20 children with autism and 16 typically developing controls (7-18 years). Relative to controls, individuals with autism had elevated glutamate/creatine in the putamen. In addition, both groups showed age-related increases in glutamate in this region. Boys, relative to girls had increased choline/creatine in the thalamus. Lastly, there were correlations between glutamate, choline, and myoinositol in all three regions, and behavioral scores in the ASD group. These findings suggest changes in deep gray matter neurochemistry, which are sensitive to diagnosis, age and sex, and are associated with behavioral differences.
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3. Farshbaf MJ, Ghaedi K, Shirani M, Nasr-Esfahani MH. {{Peroxisome proliferator activated receptor gamma (PPARgamma) as a therapeutic target for improvement of cognitive performance in Fragile-X}}. {Med Hypotheses};2013 (Dec 25)
Rare disorders leading to intellectual disability, such as Fragile X syndrome (FXS) alter synaptic plasticity. Ligand identification of orphan nuclear receptors has led to the discovery of many signaling pathways and has revealed a direct link of nuclear receptors with human conditions such as mental retardation and neurodegenerative diseases. PPARgamma agonists can act as neuroprotective agents, promoting synaptic plasticity and neurite outgrowth. Therefore, selective PPARgamma agonists are good candidates for therapeutic evaluation in intellectual disabilities. Preliminary results suggest that PPARgamma agonists such as Pioglitazone, Rosiglitazone and synthetic agonist, GW1929, are used as the therapeutic agent in neurological disorders. These components interact with intracellular transduction signals (e.g. GSK3beta, PI3K/Akt, Wnt/beta-Catenin, Rac1 and MMP-9). It seems that interaction with these pathways can improve memory recognition in FXS animal models. The present hypothesis consists of enhancing synaptic plasticity that may then rescue the learning and memory in FXS. This will open many new therapeutic avenues for a variety of human diseases.
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4. Goch CJ, Stieltjes B, Henze R, Hering J, Poustka L, Meinzer HP, Maier-Hein KH. {{Quantification of changes in language-related brain areas in autism spectrum disorders using large-scale network analysis}}. {Int J Comput Assist Radiol Surg};2014 (Jan 24)
PURPOSE: Diagnosis of autism spectrum disorders (ASD) is difficult, as symptoms vary greatly and are difficult to quantify objectively. Recent work has focused on the assessment of non-invasive diffusion tensor imaging-based biomarkers that reflect the microstructural characteristics of neuronal pathways in the brain. While tractography-based approaches typically analyze specific structures of interest, a graph-based large-scale network analysis of the connectome can yield comprehensive measures of larger-scale architectural patterns in the brain. Commonly applied global network indices, however, do not provide any specificity with respect to functional areas or anatomical structures. Aim of this work was to assess the concept of network centrality as a tool to perform locally specific analysis without disregarding the global network architecture and compare it to other popular network indices. METHODS: We create connectome networks from fiber tractographies and parcellations of the human brain and compute global network indices as well as local indices for Wernicke’s Area, Broca’s Area and the Motor Cortex. Our approach was evaluated on 18 children suffering from ASD and 18 typically developed controls using magnetic resonance imaging-based cortical parcellations in combination with diffusion tensor imaging tractography. RESULTS: We show that the network centrality of Wernicke’s area is significantly (p [Formula: see text] 0.001) reduced in ASD, while the motor cortex, which was used as a control region, did not show significant alterations. This could reflect the reduced capacity for comprehension of language in ASD. CONCLUSIONS: The betweenness centrality could potentially be an important metric in the development of future diagnostic tools in the clinical context of ASD diagnosis. Our results further demonstrate the applicability of large-scale network analysis tools in the domain of region-specific analysis with a potential application in many different psychological disorders.
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5. Heller T, Fisher D, Marks B, Hsieh K. {{Interventions to promote health: Crossing networks of intellectual and developmental disabilities and aging}}. {Disabil Health J};2014 (Jan);7(1 Suppl):S24-32.
BACKGROUND: People with intellectual and developmental disabilities experience lower levels of healthy behaviors as do older persons, making health promotion a key priority for these populations. OBJECTIVE: The aim of this paper is to review the two fields of developmental disability and aging health promotion research in order to understand strategies used by both and to identify emerging and innovative practices that disability researchers can learn from each other. METHODS: We conducted scoping reviews of health promotion intervention peer reviewed articles in English from 1991 to 2011 for intellectual and developmental disabilities and from 2007 to 2011 for the more extensive gerontological literature. Two reviewers extracted data. RESULTS: The disability review identified 34 studies and three main types of interventions: exercise, multi-component, and health screens. The aging review identified 176 articles which had a wider variety of intervention topics and techniques, with more articles including innovative approaches to bringing interventions to community settings across a wider variety of populations. CONCLUSIONS: As people with intellectual and developmental disabilities are living longer, disability health promotion can look to the aging literature for ideas to incorporate in future interventions for people with intellectual and developmental disabilities, while the gerontological research can learn from the research in intellectual and developmental disabilities on ways to adapt health promotion interventions to people with cognitive and physical limitations. Use of universal design principles could enable greater inclusion of people with disabilities in health promotion interventions for the general aging population.
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6. Keil AP, Daniels JL, Hertz-Picciotto I. {{Autism spectrum disorder, flea and tick medication, and adjustments for exposure misclassification: the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study}}. {Environ Health};2014 (Jan 23);13(1):3.
BACKGROUND: The environmental contribution to autism spectrum disorders (ASD) is largely unknown, but household pesticides are receiving increased attention. We examined associations between ASD and maternally-reported use of imidacloprid, a common flea and tick treatment for pets. METHODS: Bayesian logistic models were used to estimate the association between ASD and imidacloprid and to correct for potential differential exposure misclassification due to recall in a case control study of ASD. RESULTS: Our analytic dataset included complete information for 262 typically developing controls and 407 children with ASD. Compared with exposure among controls, the odds of prenatal imidacloprid exposure among children with ASD were slightly higher, with an odds ratio (OR) of 1.3 (95% Credible Interval [CrI] 0.78, 2.2). A susceptibility window analysis yielded higher ORs for exposures during pregnancy than for early life exposures, whereas limiting to frequent users of imidacloprid, the OR increased to 2.0 (95% CI 1.0, 3.9). CONCLUSIONS: Within plausible estimates of sensitivity and specificity, the association could result from exposure misclassification alone. The association between imidacloprid exposure and ASD warrants further investigation, and this work highlights the need for validation studies regarding prenatal exposures in ASD.
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7. Knight V, McKissick BR, Saunders A. {{Erratum to: A Review of Technology-Based Interventions to Teach Academic Skills to Students with Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (Jan 25)
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8. Margari L, Lamanna AL, Craig F, Simone M, Gentile M. {{Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature}}. {Eur J Pediatr};2014 (Jan 25)
Abnormalities of the sex chromosomes (47, XXY, 47 XYY, 45,X/46,XY mosaicism) are frequently associated with Autism Spectrum Disorders (ASD), but the male predisposition to these disorders has not been clearly explained. Previously, the role of the X chromosome was considered important in the ASD mainly because autistic symptoms were detected in genetic syndromes involving X chromosome (fragile X syndrome, Rett syndrome, Klinefelter syndrome). Instead, few studies have analyzed the possible role of the Y chromosome in the ASD. This study explores the role of the Y chromosome in ASD through a systematic literature review about the association between ASD and XYY syndrome and a description of two new cases with this association. The literature review considered studies published in peer-reviewed journals, included in the MEDLINE and PubMed databases, that examined the association between ASD and XYY syndrome. Few studies reported the occurrence of ASD in children with XYY karyotype and the majority of them did not reported a well-defined autism diagnostic category associated with an extra Y chromosome, but several clinical conditions that are generically described as language and social impairment. Conclusion: This study underlines the underestimated role of the Y chromosome in ASD, and we postulate that all the ASD associated with the XYY karyotype may presumably fall within mild degree of ASD as in our cases.
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9. Schroeder JH, Cappadocia MC, Bebko JM, Pepler DJ, Weiss JA. {{Shedding Light on a Pervasive Problem: A Review of Research on Bullying Experiences Among Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2014 (Jan 25)
Autism spectrum disorders (ASD) are characterized by difficulties with social interaction, verbal and nonverbal communication, and the development and maintenance of interpersonal relationships. As a result, individuals with ASD are at an increased risk of bullying victimization, compared to typically developing peers. This paper reviews the literature that has emerged over the past decade regarding prevalence of bullying involvement in the ASD population, as well as associated psychosocial factors. Directions for future research are suggested, including areas of research that are currently unexplored or underdeveloped. Methodological issues such as defining and measuring bullying, as well as informant validity and reliability, are considered. Implications for intervention are discussed.
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10. Steward-Scott E. {{Autism Spectrum Disorders: Picky Eaters}}. {J Pediatr Nurs};2014 (Jan 3)
