1. {{Screening for Autism Spectrum Disorder in Young Children: Recommendation Statement}}. {Am Fam Physician};2016 (May 1);93(9):774-780.
2. Boggess A, Faber S, Kern J, Kingston HM. {{Mean serum-level of common organic pollutants is predictive of behavioral severity in children with autism spectrum disorders}}. {Sci Rep};2016;6:26185.
Autism spectrum disorders (ASD), and their pathogenesis, are growing public health concerns. This study evaluated common organic pollutant serum-concentrations in children, as it related to behavioral severity determined by rating scales and the Autism Diagnostic Observation Schedule (ADOS). Thirty children, ages 2-9, with ASD and thirty controls matched by age, sex, and socioeconomic status were evaluated using direct blood serum sampling and ADOS. Pooling concentrations of all studied pollutants into a single variable yielded cohort-specific neurobehavioral relationships. Pooled serum-concentration correlated significantly with increasing behavioral severity on the ADOS in the ASD cohort (p = 0.011, r = 0.54), but not controls (p = 0.60, r = 0.11). Logistic regression significantly correlated mean pollutant serum-concentration with the probability of diagnosis of behaviorally severe autism, defined as ADOS >14, across all participants (odds ratio = 3.43 [95% confidence: 1.14-10.4], p = 0.0287). No specific analyte correlated with ADOS in either cohort. The ASD cohort displayed greater quantitative variance of analyte concentrations than controls (p = 0.006), suggesting a wide range of detoxification functioning in the ASD cohort. This study supports the hypothesis that environmental exposure to organic pollutants may play a significant role in the behavioral presentation of autism.
Lien vers le texte intégral (Open Access ou abonnement)
3. Bradstreet LE, Juechter JI, Kamphaus RW, Kerns CM, Robins DL. {{Using the BASC-2 Parent Rating Scales to Screen for Autism Spectrum Disorder in Toddlers and Preschool-Aged Children}}. {J Abnorm Child Psychol};2016 (May 14)
Early identification of toddlers and preschool-aged children with autism spectrum disorder (ASD) is important for ensuring that these youth receive targeted early intervention services. Identifying young children with ASD is complicated by overlap among symptoms of ASD and other developmental delays. Additionally, youth with ASD have a higher risk of experiencing co-occurring challenging behaviors that are beyond the diagnostic criteria for ASD (e.g., attention difficulties, anxiety). Given this, broadband behavioral assessments that measure symptoms of ASD as well as other behavioral and emotional challenges offer a cost-effective method for screening young children. The present study evaluated the utility of one such assessment, the Behavior Assessment System for Children, Second Edition, Parent Rating Scale-Preschool (BASC-2 PRS-P), for identifying young children with ASD from those with other diagnoses (including other developmental delays) and those without diagnoses. The sample included 224 toddlers and preschoolers (age range: 24-63 months, males n = 153 [68 % total sample]) who screened positive on an ASD-specific screening tool. Results demonstrated that the Developmental Social Disorders (DSD) scale on the BASC-2 PRS-P had adequate sensitivity and specificity values when distinguishing youth with ASD from those without any diagnoses, but not when differentiating between youth with ASD and those with other diagnoses. Similar to other multidimensional behavior rating scales, the BASC-2 PRS-P may be most useful for identifying young children who require comprehensive diagnostic evaluations.
Lien vers le texte intégral (Open Access ou abonnement)
4. Copping NA, Berg EL, Foley GM, Schaffler MD, Onaga BL, Buscher N, Silverman JL, Yang M. {{Touchscreen Learning Deficits and Normal Social Approach Behavior in the Shank3B Model of Phelan-McDermid Syndrome and Autism}}. {Neuroscience};2016 (May 14)
SHANK3 is a synaptic scaffolding protein localized in the postsynaptic density and has a crucial role in synaptogenesis and neural physiology. Deletions and point mutations in SHANK3 cause Phelan-McDermid Syndrome (PMS), and have also been implicated in autism spectrum disorder (ASD) and intellectual disabilities, leading to the hypothesis that reduced SHANK3 expression impairs basic brain functions that are important for social communication and cognition. Several mouse models of Shank3 deletions have been generated, varying in the specific domain deleted. Here we report impairments in cognitive function in mice heterozygous for exon 13-16 (coding for the PDZ domain) deletion. The touchscreen pairwise discrimination task was chosen by virtue of its: (a) conceptual and technical similarities to the Cambridge Neuropsychological Test Automated Battery (CANTAB) and NIH Toolbox Cognition Battery used for testing cognitive functions in humans, (b) minimal demand on motor abilities, and (c) capability to measure many aspects of learning and memory and complex cognitive functions, including cognitive flexibility. The similarity between our mouse tasks and human cognitive assays means a high translational validity in future intervention studies using preclinical models. Our study revealed that Shank3B heterozygous mice (+/-) were slower to reach criterion in the pairwise visual discrimination task, and exhibited trends toward making more errors (first trial errors) and more correction errors than wildtype mice (+/+). Open field activity was normal in +/-, ruling out hypo- or hyper-activity as potential confounds in the touchscreen test. Sociability in the three chamber test was also normal in both +/+ and +/-. These results indicate a deficit in discrimination learning in the Shank3B model of PMS and ASD, suggesting that this mouse model is a useful preclinical tool for studying neurobiological mechanisms behind cognitive impairments in PMS and ASD. The current findings are the starting point for our future research in which we will investigate multiple domains of cognition and explore pharmacological interventions.
Lien vers le texte intégral (Open Access ou abonnement)
5. Kripke C. {{Evaluation of Behavior Change in Patients with Developmental Disabilities}}. {Am Fam Physician};2016 (Apr 15);93(8):686-692.
6. Kubota T, Mochizuki K. {{Epigenetic Effect of Environmental Factors on Autism Spectrum Disorders}}. {Int J Environ Res Public Health};2016;13(5)
Both environmental factors and genetic factors are involved in the pathogenesis of autism spectrum disorders (ASDs). Epigenetics, an essential mechanism for gene regulation based on chemical modifications of DNA and histone proteins, is also involved in congenital ASDs. It was recently demonstrated that environmental factors, such as endocrine disrupting chemicals and mental stress in early life, can change epigenetic status and gene expression, and can cause ASDs. Moreover, environmentally induced epigenetic changes are not erased during gametogenesis and are transmitted to subsequent generations, leading to changes in behavior phenotypes. However, epigenetics has a reversible nature since it is based on the addition or removal of chemical residues, and thus the original epigenetic status may be restored. Indeed, several antidepressants and anticonvulsants used for mental disorders including ASDs restore the epigenetic state and gene expression. Therefore, further epigenetic understanding of ASDs is important for the development of new drugs that take advantages of epigenetic reversibility.
Lien vers le texte intégral (Open Access ou abonnement)
7. Liu X, Liu J, Xiong X, Yang T, Hou N, Liang X, Chen J, Cheng Q, Li T. {{Correlation between Nutrition and Symptoms: Nutritional Survey of Children with Autism Spectrum Disorder in Chongqing, China}}. {Nutrients};2016;8(5)
Restricted diets and inadequate nutrient intake of children with autism spectrum disorder (ASD) have been reported. This study examined the nutritional statuses of children with ASD and the relationships between their behaviors and nutritional intake. A total of 154 children with ASD (age = 5.21 +/- 1.83 years) and 73 typically-developing (TD) children (age = 4.83 +/- 0.84 years) from Chongqing, China, were enrolled. The severity of ASD was evaluated using the Childhood Autism Rating Scale (CARS). The serum ferritin, folate, vitamin B12, 25(OH) vitamin D, and vitamin A concentrations in the children with ASD were determined. All participants underwent anthropometric examinations, dietary assessments, and questionnaire assessments about their feeding behaviors, and gastrointestinal symptoms. The ZHA, ZWA, and ZBMIA were found to be significantly lower in the children with ASD compared with those without ASD. In addition, the percentages of children exhibiting severe picky eating and severe resistance to new foods, as well as those with a reported general impression of severe eating problems and constipation, were higher among the children with ASD. These children consumed significantly fewer macronutrients compared with the children without ASD. In addition, the children with ASD had the highest rate of vitamin A deficiency, followed by iron deficiency. After adjusting for sex, the vitamin A concentration was found to be negatively correlated with the CARS score (rs = -0.222, p = 0.021). No correlation between the ferritin, folate, vitamin D, or vitamin B12 concentration and the CARS score was found. These results suggest that reduced macronutrient intakes, severe feeding behavior issues, constipation, and vitamin A deficiency are quite common among children with ASD. Further, a low serum vitamin A level may be a risk factor for symptoms of ASD. However, the underlying mechanism should be further studied.
Lien vers le texte intégral (Open Access ou abonnement)
8. Mazurek MO, Brown R, Curran A, Sohl K. {{ECHO Autism: A New Model for Training Primary Care Providers in Best-Practice Care for Children With Autism}}. {Clin Pediatr (Phila)};2016 (May 11)
Children with autism spectrum disorder (ASD) have complex medical problems, yet they are at high risk for unmet health care needs. Primary care providers are perfectly positioned to meet these needs; however, they often lack training in ASD. This pilot project developed and tested a new model for training primary care providers in best-practice care for ASD using the Extension for Community Healthcare Outcomes (ECHO) framework. The 6-month ECHO Autism pilot project consisted of 12 biweekly clinics focused on screening and identification of ASD symptoms and management of medical and psychiatric comorbidities. Participants completed measures of practice behavior and self-efficacy in screening and management of children with ASD at baseline (pretest) and after 6 months of ECHO Autism (posttest). Statistically significant improvements were observed in self-efficacy, in adherence to ASD screening guidelines, and in use of ASD-specific resources. Participants also reported high satisfaction with the program.
Lien vers le texte intégral (Open Access ou abonnement)
9. McDaniels J. {{Family Advocates for Parents With Children With an Autism Spectrum Disorder. A Letter to the Editor on the Article « Parent Perceptions of Care Received by Children With an Autism Spectrum Disorder »}}. {J Pediatr Nurs};2016 (May 9)
Lien vers le texte intégral (Open Access ou abonnement)
10. Reiner G. {{Inborn error metabolic screening in nonsyndromic autism spectrum disorders}}. {Dev Med Child Neurol};2016 (May 12)
Lien vers le texte intégral (Open Access ou abonnement)
11. Rodogno R, Krause-Jensen K, Ashcroft RE. {{‘Autism and the good life’: a new approach to the study of well-being}}. {J Med Ethics};2016 (May 12)
Medical, psychological, educational and social interventions to modify the behaviour of autistic people are only justified if they confer benefit on those people. However, it is not clear how ‘benefit’ should be understood. Most such interventions are justified by referring to the prospect that they will effect lasting improvements in the well-being and happiness of autistic people, so they can lead good lives. What does a good life for an autistic person consist in? Can we assume that his or her well-being is substantively the same as the well-being of non-autistic individuals? In this paper, we argue that, as it stands, the current approach to the study of well-being is for the most part unable to answer these questions. In particular, much effort is needed in order to improve the epistemology of well-being, especially so if we wish this epistemology to be ‘autism-sensitive’. Towards the end of the paper, we sketch a new, autism-sensitive approach and apply it in order to begin answering our initial questions.
Lien vers le texte intégral (Open Access ou abonnement)
12. Rosenbaum P. {{Developmental disability: shouldn’t grandparents have a place at the table?}}. {Dev Med Child Neurol};2016 (Jun);58(6):528.
Lien vers le texte intégral (Open Access ou abonnement)
13. Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL. {{Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2}}. {Genet Med};2016 (May 12)
PURPOSE: Rett syndrome (RTT) is a neurodevelopmental disorder caused primarily by de novo mutations in MECP2 and sometimes in CDKL5 and FOXG1. However, some RTT patients lack mutations in these genes. METHODS: Twenty-two RTT patients without apparent MECP2, CDKL5, and FOXG1 mutations were subjected to both whole-exome sequencing and single-nucleotide polymorphism array-based copy-number variant (CNV) analyses. RESULTS: Three patients had MECP2 mutations initially missed by clinical testing. Of the remaining 19, 17 (89.5%) had 29 other likely pathogenic intragenic mutations and/or CNVs (10 patients had 2 or more). Interestingly, 13 patients had mutations in a gene/region previously reported in other neurodevelopmental disorders (NDDs), thereby providing a potential diagnostic yield of 68.4%. These mutations were significantly enriched in chromatin regulators (corrected P = 0.0068) and moderately enriched in postsynaptic cell membrane molecules (corrected P = 0.076), implicating glutamate receptor signaling. CONCLUSION: The genetic etiology of RTT without MECP2, CDKL5, and FOXG1 mutations is heterogeneous, overlaps with other NDDs, and complicated by a high mutation burden. Dysregulation of chromatin structure and abnormal excitatory synaptic signaling may form two common pathological bases of RTT.Genet Med advance online publication 12 May 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.42.
Lien vers le texte intégral (Open Access ou abonnement)
14. Yui K. {{Editorial: New Therapeutic Targets for Autism Spectrum Disorders}}. {CNS Neurol Disord Drug Targets};2016;15(5):529-532.
