1. {{ERRATUM: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions}}. {Genet Med};2013 (Aug);15(8):669.
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2. Abisror N, Mekinian A, Lachassinne E, Nicaise-Roland P, Pontual LD, Chollet-Martin S, Boddaert N, Carbillon L, Fain O. {{Autism spectrum disorders in babies born to mothers with antiphospholipid syndrome}}. {Semin Arthritis Rheum};2013 (Jul 30)
OBJECTIVES: To evaluate the outcomes of babies born to mothers with primary antiphospholipid syndrome and to compare to the outcomes of babies of mothers with systemic lupus erythematosus. METHODS: A retrospective study from 2003 to 2010 assessing the clinical characteristics and psychomotor development, as well as the immunological data, of children born to mothers with antiphospholipid syndrome (APS) (group 1) and systemic lupus erythematosus (group 2). RESULTS: Group 1 consisted of 36 children born to mothers (n = 26) with a primary APS. Autism spectrum disorders occurred in 3 children from group 1 and all of them had persistent anti-beta2GP1 IgG antibodies. Group 2 consisted of 12 children born to mothers (n = 9) with lupus erythematosus. Three children experienced cutaneous neonatal lupus, but there were no neurodevelopmental disorders. Comparing children of groups 1 and 2, no significant difference was found with regard to the parameters at birth or during follow-up. The children in group 2 had antinuclear antibodies more frequently (p < 0.05). CONCLUSION: Autism spectrum disorders could be observed in babies born to mothers with antiphospholipid syndrome, but there is no risk of thrombosis. KEY MESSAGES: Neonatal lupus is well-known complication in children born to mothers with systemic lupus erythematosus, but there is no risk of thrombosis in APS-exposed children. In children of APS mothers the rate of prematurity and small-for-gestational age weight remain high even in treated pregnancy. The presence of several cases of autism spectrum disorders in APS-exposed children could be related to mother’s antibodies exposition, but need to be confirmed.
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3. Beebe LH, Gossler SM. {{Nursing of Autism Spectrum Disorder: Evidence-Based Integrated Care Across The LifespanNursing of Autism Spectrum Disorder: Evidence-Based Integrated Care Across The Lifespan}}. {Issues Ment Health Nurs};2013 (Aug);34(8):631.
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4. Das UN. {{Autism as a disorder of deficiency of brain-derived neurotrophic factor and altered metabolism of polyunsaturated fatty acids}}. {Nutrition};2013 (Jul 30)
Autism has a strong genetic and environmental basis in which inflammatory markers and factors concerned with synapse formation, nerve transmission, and information processing such as brain-derived neurotrophic factor (BDNF), polyunsaturated fatty acids (PUFAs): arachidonic (AA), eicosapentaenoic (EPA), and docosahexaenoic acids (DHA) and their products and neurotransmitters: dopamine, serotonin, acetylcholine, gamma-aminobutyric acid, and catecholamines and cytokines are altered. Antioxidants, vitamins, minerals, and trace elements are needed for the normal metabolism of neurotrophic factors, eicosanoids, and neurotransmitters, supporting reports of their alterations in autism. But, the exact relationship among these factors and their interaction with genes and proteins concerned with brain development and growth is not clear. It is suggested that maternal infections and inflammation and adverse events during intrauterine growth of the fetus could lead to alterations in the gene expression profile and proteomics that results in dysfunction of the neuronal function and neurotransmitters, alteration(s) in the metabolism of PUFAs and their metabolites resulting in excess production of proinflammatory eicosanoids and cytokines and a deficiency of anti-inflammatory cytokines and bioactive lipids that ultimately results in the development of autism. Based on these evidences, it is proposed that selective delivery of BDNF and methods designed to augment the production of anti-inflammatory cytokines and eicosanoids and PUFAs may prevent, arrest, or reverse the autism disease process.
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5. Domin D, Butterworth J. {{The role of community rehabilitation providers in employment for persons with intellectual and developmental disabilities: results of the 2010-2011 national survey}}. {Intellect Dev Disabil};2013 (Aug);51(4):215-225.
Abstract Based on the 2010-2011 National Survey of Community Rehabilitation Providers, findings are presented on people with all disabilities and people with intellectual and developmental disabilities (IDD) who are served in employment and nonwork settings by community rehabilitation providers. Findings suggest little change over the past eight years in participation in integrated employment. Overall, 28% of all individuals and 19% of individuals with IDD were reported to receive individual integrated employment services. The results suggest that 15% of individuals with IDD work in individual integrated jobs for pay. Group supported employment continues to play a smaller but significant role in employment supports, with almost 10% of individuals with IDD participating in enclaves or mobile work crews. Data do reflect a decline in participation in facility-based work for individuals with IDD, from 41% to 27.5% and a concurrent growth in participation in nonwork services to 43% of all purchased services.
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6. Finucane B, Haas-Givler B, Simon EW. {{Knowledge and perceptions about fragile x syndrome: implications for diagnosis, intervention, and research}}. {Intellect Dev Disabil};2013 (Aug);51(4):226-236.
Abstract We surveyed 439 professionals in the field of autism to assess their knowledge and perceptions about fragile X syndrome (FXS) and related issues. Almost half had worked with at least one child diagnosed with FXS, yet most lacked basic knowledge about the condition, underestimated its significance in the etiology of autism spectrum disorders, and rarely accessed fragile X-specific resources. A majority perceived etiology to be an important variable in therapeutic response while three quarters felt that professionals in the field of autism should play an active role in referring children for etiological evaluation. Despite these opinions, most respondents either rarely or never inquired about etiology when working with a new client. The survey results underscore the need for training and education so that autism professionals can become effective partners in diagnostic genetic referral and in research and implementation of syndrome-specific interventions.
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7. Geier DA, Kern JK, Geier MR. {{A Comparison of the Autism Treatment Evaluation Checklist (ATEC) and the Childhood Autism Rating Scale (CARS) for the Quantitative Evaluation of Autism}}. {J Ment Health Res Intellect Disabil};2013 (Oct);6(4):255-267.
The purpose of this study was to evaluate scores generated from the Autism Treatment Evaluation Checklist (ATEC), a parent-rated measure, and those derived from professionally completed Childhood Autism Rating Scale (CARS) evaluations. A cohort of 56 participants diagnosed with an autism spectrum disorder was used for the study, and each child was evaluated independently by the parent using the ATEC and a health care professional using the CARS. The Spearman’s rank correlation statistic rho was used to evaluate the correlation between ATEC and CARS scores. It was observed that there was a significant correlation between total ATEC and CARS scores (rho = .71). Specific domains in the ATEC evaluation significantly correlated with CARS scores. Sensitivity, specificity, and receiver operating characteristic confirmed the association between CARS and ATEC domains. The results help to validate the utility of the parentally completed ATEC in comparison with an established, professional-related measure of autism.
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8. Hudry K, Aldred C, Wigham S, Green J, Leadbitter K, Temple K, Barlow K, McConachie H. {{Predictors of parent-child interaction style in dyads with autism}}. {Res Dev Disabil};2013 (Aug 1);34(10):3400-3410.
Parent synchrony has been shown to be developmentally important for the growth of communication skills in young children with autism. Understanding individual-differences in parent synchrony and other associated features of dyadic interaction therefore presents as an important step toward the goal of appreciating how and why some parent-child dyads come to adopt more optimal interaction styles, while for others, parent interaction is more asynchronous and less developmentally facilitative. Within the large, well-characterized Preschool Autism Communication Trial (PACT) cohort, baseline parent-child interaction samples were coded for three key aspects of dyadic interaction style; – Parent Synchrony, Child Initiation, and Shared Attention. We explored associations among these measures, demographic characteristics and standardized child assessment scores. While various child factors were associated with each of the interaction measures, very few associations were observed with parent/familial factors. Child language age-equivalence was a significant positive predictor of variation in each interaction measure, while child repetitive symptoms predicted reduced Shared Attention. The three interaction measures were moderately positively inter-related. In the context of childhood autism, variation in dyadic interaction style appears to be driven more by child language and repetitive behaviors than age, social-communication symptoms and non-verbal ability. Parent/family factors contributed little to explaining variability in parent-child interaction, in the current study.
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9. Mahoney AD, Minter B, Burch K, Stapel-Wax J. {{Autism spectrum disorders and prematurity: a review across gestational age subgroups}}. {Adv Neonatal Care};2013 (Aug);13(4):247-251.
Autism spectrum disorders (ASDs) are increasingly recognized as a public health problem. According to the Centers for Disease Control and Prevention, the prevalence for ASD is now 1 in 88. The prevalence of ASDs in children has increased over the past 2 decades, nearly doubling the prevalence since the Centers for Disease Control and Prevention began tracking these numbers. Infants are defined as premature when birth takes place before 37 weeks’ gestation (259 days from the first day of the mother’s last menstrual period). More than 4 million live births occur in the United States each year. Preterm births account for approximately half a million of those births. The rate of premature birth has increased by more than 20% between 1990 and 2006. Cognitive impairment and atypical brain development are thought to be sequelae of preterm delivery. Low birth weight and preterm birth place these infants at higher risk for disturbances in social interaction, communication, and other psychoaffective disorders in adulthood. Major advances in the field of early autism detection include validated screening tools to facilitate early screening for children with ASD as well as those considered to be at high risk for the disorder. Given the significant maternal and neonatal morbidities that are often coupled with prematurity, understanding the prevalence and risk factors that are implicated in changes in the fetal brain may provide researchers with vital links to autism in this population.
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10. Michalon A, Bruns A, Risterucci C, Honer M, Ballard TM, Ozmen L, Jaeschke G, Wettstein JG, von Kienlin M, Kunnecke B, Lindemann L. {{Chronic Metabotropic Glutamate Receptor 5 Inhibition Corrects Local Alterations of Brain Activity and Improves Cognitive Performance in Fragile X Mice}}. {Biol Psychiatry};2013 (Jul 30)
BACKGROUND: Fragile X syndrome (FXS) is the most common genetic cause for intellectual disability. Fmr1 knockout (KO) mice are an established model of FXS. Chronic pharmacological inhibition of metabotropic glutamate receptor 5 (mGlu5) in these mice corrects multiple molecular, physiological, and behavioral phenotypes related to patients’ symptoms. To better understand the pathophysiology of FXS and the effect of treatment, brain activity was analyzed using functional magnetic resonance imaging in relation to learning and memory performance. METHODS: Wild-type (WT) and Fmr1 KO animals receiving chronic treatment with the mGlu5 inhibitor CTEP or vehicle were evaluated consecutively for 1) learning and memory performance in the inhibitory avoidance and extinction test, and 2) for the levels of brain activity using continuous arterial spin labeling based functional magnetic resonance imaging. Neural activity patterns were correlated with cognitive performance using a multivariate regression analysis. Furthermore, mGlu5 receptor expression in brains of untreated mice was analyzed by autoradiography and saturation analysis using [3H]-ABP688. RESULTS: Chronic CTEP treatment corrected the learning deficit observed in Fmr1 KO mice in the inhibitory avoidance and extinction test and prevented memory extinction in WT and Fmr1 KO animals. Chronic CTEP treatment normalized perfusion in the amygdala and the lateral hypothalamus in Fmr1 KO mice and furthermore decreased perfusion in the hippocampus and increased perfusion in primary sensorimotor cortical areas. No significant differences in mGlu5 receptor expression levels between Fmr1 WT and KO mice were detected. CONCLUSIONS: Chronic mGlu5 inhibition corrected the learning deficits and partially normalized the altered brain activity pattern in Fmr1 KO mice.
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11. Rada RE. {{Treatment needs and adverse events related to dental treatment under general anesthesia for individuals with autism}}. {Intellect Dev Disabil};2013 (Aug);51(4):246-252.
Abstract Individuals with autism can be quite challenging to treat in a routine dental-office setting, especially when extensive dental treatment and disruptive behavioral issues exist. Individuals with autism may also be at higher risk for oral disease. Frequently, general anesthesia is the only method to facilitate completion of the needed dental treatment. General anesthesia is not without complications, and unique occurrences are a necessary consideration for special-needs populations. In addition, behavior challenges may occur which can be disruptive to hospital staff. This article describes treatment needs and determines adverse events during the perioperative period for individuals with autism who have had general anesthesia for comprehensive dental treatment in the hospital.
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12. Xu D, Shen W, Guo R, Xue Y, Peng W, Sima J, Yang J, Sharov A, Srikantan S, Fox D, 3rd, Qian Y, Martindale JL, Piao Y, Machamer J, Joshi SR, Mohanty S, Shaw AC, Lloyd TE, Brown GW, Ko MS, Gorospe M, Zou S, Wang W. {{Top3beta is an RNA topoisomerase that works with fragile X syndrome protein to promote synapse formation}}. {Nat Neurosci};2013 (Aug 4)
Topoisomerases are crucial for solving DNA topological problems, but they have not been linked to RNA metabolism. Here we show that human topoisomerase 3beta (Top3beta) is an RNA topoisomerase that biochemically and genetically interacts with FMRP, a protein that is deficient in fragile X syndrome and is known to regulate the translation of mRNAs that are important for neuronal function, abnormalities of which are linked to autism. Notably, the FMRP-Top3beta interaction is abolished by a disease-associated mutation of FMRP, suggesting that Top3beta may contribute to the pathogenesis of mental disorders. Top3beta binds multiple mRNAs encoded by genes with neuronal functions linked to schizophrenia and autism. Expression of one such gene, that encoding protein tyrosine kinase 2 (ptk2, also known as focal adhesion kinase or FAK), is reduced in the neuromuscular junctions of Top3beta mutant flies. Synapse formation is defective in Top3beta mutant flies and mice, as well as in FMRP mutant flies and mice. Our findings suggest that Top3beta acts as an RNA topoisomerase and works with FMRP to promote the expression of mRNAs that are crucial for neurodevelopment and mental health.
