1. {{Prevalence of autism spectrum disorder among children aged 8 years – autism and developmental disabilities monitoring network, 11 sites, United States, 2010}}. {MMWR Surveill Summ};2014 (Mar 28);63 Suppl 2:1-21.
Problem/Condition: Autism spectrum disorder (ASD). Period Covered: 2010. Description of System: The Autism and Developmental Disabilities Monitoring (ADDM) Network is an active surveillance system in the United States that provides estimates of the prevalence of ASD and other characteristics among children aged 8 years whose parents or guardians live in 11 ADDM sites in the United States. ADDM surveillance is conducted in two phases. The first phase consists of screening and abstracting comprehensive evaluations performed by professional providers in the community. Multiple data sources for these evaluations include general pediatric health clinics and specialized programs for children with developmental disabilities. In addition, most ADDM Network sites also review and abstract records of children receiving special education services in public schools. The second phase involves review of all abstracted evaluations by trained clinicians to determine ASD surveillance case status. A child meets the surveillance case definition for ASD if a comprehensive evaluation of that child completed by a qualified professional describes behaviors consistent with the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) diagnostic criteria for any of the following conditions: autistic disorder, pervasive developmental disorder-not otherwise specified (including atypical autism), or Asperger disorder. This report provides updated prevalence estimates for ASD from the 2010 surveillance year. In addition to prevalence estimates, characteristics of the population of children with ASD are described. Results: For 2010, the overall prevalence of ASD among the ADDM sites was 14.7 per 1,000 (one in 68) children aged 8 years. Overall ASD prevalence estimates varied among sites from 5.7 to 21.9 per 1,000 children aged 8 years. ASD prevalence estimates also varied by sex and racial/ethnic group. Approximately one in 42 boys and one in 189 girls living in the ADDM Network communities were identified as having ASD. Non-Hispanic white children were approximately 30% more likely to be identified with ASD than non-Hispanic black children and were almost 50% more likely to be identified with ASD than Hispanic children. Among the seven sites with sufficient data on intellectual ability, 31% of children with ASD were classified as having IQ scores in the range of intellectual disability (IQ </=70), 23% in the borderline range (IQ = 71-85), and 46% in the average or above average range of intellectual ability (IQ >85). The proportion of children classified in the range of intellectual disability differed by race/ethnicity. Approximately 48% of non-Hispanic black children with ASD were classified in the range of intellectual disability compared with 38% of Hispanic children and 25% of non-Hispanic white children. The median age of earliest known ASD diagnosis was 53 months and did not differ significantly by sex or race/ethnicity. Interpretation: These findings from CDC’s ADDM Network, which are based on 2010 data reported from 11 sites, provide updated population-based estimates of the prevalence of ASD in multiple communities in the United States. Because the ADDM Network sites do not provide a representative sample of the entire United States, the combined prevalence estimates presented in this report cannot be generalized to all children aged 8 years in the United States population. Consistent with previous reports from the ADDM Network, findings from the 2010 surveillance year were marked by significant variations in ASD prevalence by geographic area, sex, race/ethnicity, and level of intellectual ability. The extent to which this variation might be attributable to diagnostic practices, underrecognition of ASD symptoms in some racial/ethnic groups, socioeconomic disparities in access to services, and regional differences in clinical or school-based practices that might influence the findings in this report is unclear. Public Health Action: ADDM Network investigators will continue to monitor the prevalence of ASD in select communities, with a focus on exploring changes within these communities that might affect both the observed prevalence of ASD and population-based characteristics of children identified with ASD. Although ASD is sometimes diagnosed by 2 years of age, the median age of the first ASD diagnosis remains older than age 4 years in the ADDM Network communities. Recommendations from the ADDM Network include enhancing strategies to address the need for 1) standardized, widely adopted measures to document ASD severity and functional limitations associated with ASD diagnosis; 2) improved recognition and documentation of symptoms of ASD, particularly among both boys and girls, children without intellectual disability, and children in all racial/ethnic groups; and 3) decreasing the age when children receive their first evaluation for and a diagnosis of ASD and are enrolled in community-based support systems.
2. Al-Hakbany M, Awadallah S, Al-Ayadhi L. {{The Relationship of HLA Class I and II Alleles and Haplotypes with Autism: A Case Control Study}}. {Autism Res Treat};2014;2014:242048.
Earlier reports showed the relationship between autism and immune genes located in the human leukocyte antigen (HLA). In this current study, we compared the HLA class I and class II alleles and haplotypes in 35 autistic children with 100 control subjects from Saudi Arabia, using PCR-SSP method and Luminex technology. In class I the HLA-A*01 (P = 0.03, OR 2.68), A*02 (P = 0.001, OR 3.02) and HLA-B*07 (P = 0.01, OR 3.27), were significantly associated with autism. Also, the haplotype A*02-B*07 was significantly higher in autistic patients than in controls (P = 0.007, OR 5.83). In class II, DRB1*1104 was significantly higher in patients than in controls (P = 0.001, OR 8.75). The DQB1*0202 (P = 0.001, OR 0.24), DQB1*0302 (P = 0.001, OR 0.14), and DQB1*0501 (P = 0.012, OR 0.25), were negatively associated with disease. While the four-loci genotype study showed that A*01-B*07-DRB1*0701-DQB1*0602 (P = 0.001, OR 41.9) and the A*31-B*51-DRB1*0103-DQB1*0302 (P = 0.012, OR 4.8) are positively associated with autism among Saudi patients. This is the first report on a foreseeable risk of association of HLA-B*07 allele with autism. Thus, HLA-B*07 allele and the closely linked haplotype A*01 B*07 DRB1*0701 DQB1*0602 may serve as a marker for genetic susceptibility to autism in Saudis.
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3. Anderson G, Maes M. {{Redox Regulation and the Autistic Spectrum: Role of Tryptophan Catabolites, Immuno-inflammation, Autoimmunity and the Amygdala}}. {Curr Neuropharmacol};2014 (Mar);12(2):148-167.
The autistic spectrum disorders (ASD) form a set of multi-faceted disorders with significant genetic, epigenetic and environmental determinants. Oxidative and nitrosative stress (O&NS), immuno-inflammatory pathways, mitochondrial dysfunction and dysregulation of the tryptophan catabolite (TRYCATs) pathway play significant interactive roles in driving the early developmental etiology and course of ASD. O&NS interactions with immuno-inflammatory pathways mediate their effects centrally via the regulation of astrocyte and microglia responses, including regional variations in TRYCATs produced. Here we review the nature of these interactions and propose an early developmental model whereby different ASD genetic susceptibilities interact with environmental and epigenetic processes, resulting in glia biasing the patterning of central interarea interactions. A role for decreased local melatonin and N-acetylserotonin production by immune and glia cells may be a significant treatment target.
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4. Bitsika V, Sharpley CF, Sweeney JA, McFarlane JR. {{HPA and SAM axis responses as correlates of self- vs parental ratings of anxiety in boys with an Autistic Disorder}}. {Physiol Behav};2014 (Mar 29);127:1-7.
Anxiety and Autistic Disorder (AD) are both neurological conditions and both disorders share some features that make it difficult to precisely allocate specific symptoms to each disorder. HPA and SAM axis activities have been conclusively associated with anxiety, and may provide a method of validating anxiety rating scale assessments given by parents and their children with AD about those children. Data from HPA axis (salivary cortisol) and SAM axis (salivary alpha amylase) responses were collected from a sample of 32 high-functioning boys (M age=11yr) with an Autistic Disorder (AD) and were compared with the boys’ and their mothers’ ratings of the boys’ anxiety. There was a significant difference between the self-ratings given by the boys and ratings given about them by their mothers. Further, only the boys’ self-ratings of their anxiety significantly predicted the HPA axis responses and neither were significantly related to SAM axis responses. Some boys showed cortisol responses which were similar to that previously reported in children who had suffered chronic and severe anxiety arising from stressful social interactions. As well as suggesting that some boys with an AD can provide valid self-assessments of their anxiety, these data also point to the presence of very high levels of chronic HPA-axis arousal and consequent chronic anxiety in these boys.
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5. Cortelazzo A, De Felice C, Pecorelli A, Belmonte G, Signorini C, Leoncini S, Zollo G, Capone A, Giovampaola CD, Sticozzi C, Valacchi G, Ciccoli L, Guerranti R, Hayek J. {{Beta-actin deficiency with oxidative posttranslational modifications in rett syndrome erythrocytes: insights into an altered cytoskeletal organization}}. {PLoS One};2014;9(3):e93181.
Beta-actin, a critical player in cellular functions ranging from cell motility and the maintenance of cell shape to transcription regulation, was evaluated in the erythrocyte membranes from patients with typical Rett syndrome (RTT) and methyl CpG binding protein 2 (MECP2) gene mutations. RTT, affecting almost exclusively females with an average frequency of 1ratio10,000 female live births, is considered the second commonest cause of severe cognitive impairment in the female gender. Evaluation of beta-actin was carried out in a comparative cohort study on red blood cells (RBCs), drawn from healthy control subjects and RTT patients using mass spectrometry-based quantitative analysis. We observed a decreased expression of the beta-actin isoforms (relative fold changes for spots 1, 2 and 3: -1.82+/-0.15, -2.15+/-0.06, and -2.59+/-0.48, respectively) in pathological RBCs. The results were validated by western blotting and immunofluorescence microscopy. In addition, beta-actin from RTT patients also showed a dramatic increase in oxidative posttranslational modifications (PTMs) as the result of its binding with the lipid peroxidation product 4-hydroxy-2-nonenal (4-HNE). Our findings demonstrate, for the first time, a beta-actin down-regulation and oxidative PTMs for RBCs of RTT patients, thus indicating an altered cytoskeletal organization.
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6. Fatemi SH, Reutiman TJ, Folsom TD, Rustan OG, Rooney RJ, Thuras PD. {{Downregulation of GABA Receptor Protein Subunits alpha6, beta2, delta, epsilon, gamma2, theta, and rho2 in Superior Frontal Cortex of Subjects with Autism}}. {J Autism Dev Disord};2014 (Mar 26)
We measured protein and mRNA levels for nine gamma-aminobutyric acid A (GABAA) receptor subunits in three brain regions (cerebellum, superior frontal cortex, and parietal cortex) in subjects with autism versus matched controls. We observed changes in mRNA for a number of GABAA and GABAB subunits and overall reduced protein expression for GABAA receptor alpha 6 (GABRalpha6), GABAA receptor beta 2 (GABRbeta2), GABAA receptor delta (GABRdelta), GABAA receptor epsilon (GABRepsilon), GABAA receptor gamma 2 (GABRgamma2), GABAA receptor theta (GABRtheta), and GABAA receptor rho 2 (GABRrho2) in superior frontal cortex from subjects with autism. Our data demonstrate systematic changes in GABAA&B subunit expression in brains of subjects with autism, which may help explain the presence of cognitive abnormalities in subjects with autism.
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7. Hodgson NW, Waly MI, Al-Farsi YM, Al-Sharbati MM, Al-Farsi O, Ali A, Ouhtit A, Zang T, Zhou ZS, Deth RC. {{Decreased glutathione and elevated hair mercury levels are associated with nutritional deficiency-based autism in Oman}}. {Exp Biol Med (Maywood)};2014 (Mar 27)
Genetic, nutrition, and environmental factors have each been implicated as sources of risk for autism. Oxidative stress, including low plasma levels of the antioxidant glutathione, has been reported by numerous autism studies, which can disrupt methylation-dependent epigenetic regulation of gene expression with neurodevelopmental consequences. We investigated the status of redox and methylation metabolites, as well as the level of protein homocysteinylation and hair mercury levels, in autistic and neurotypical control Omani children, who were previously shown to exhibit significant nutritional deficiencies in serum folate and vitamin B12. The serum level of glutathione in autistic subjects was significantly below control levels, while levels of homocysteine and S-adenosylhomocysteine were elevated, indicative of oxidative stress and decreased methionine synthase activity. Autistic males had lower glutathione and higher homocysteine levels than females, while homocysteinylation of serum proteins was increased in autistic males but not females. Mercury levels were markedly elevated in the hair of autistic subjects vs. control subjects, consistent with the importance of glutathione for its elimination. Thus, autism in Oman is associated with decreased antioxidant resources and decreased methylation capacity, in conjunction with elevated hair levels of mercury.
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8. Katz DM. {{Brain-derived neurotrophic factor and rett syndrome}}. {Handb Exp Pharmacol};2014;220:481-495.
Rett syndrome (RTT) is a devastating neurodevelopmental disorder with autistic features caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2), a transcriptional regulatory protein. RTT has attracted widespread attention not only because of the urgent need for treatments, but also because it has become a window into basic mechanisms underlying epigenetic regulation of neuronal genes, including BDNF. In addition, work in mouse models of the disease has demonstrated the possibility of symptom reversal upon restoration of normal gene function. This latter finding has resulted in a paradigm shift in RTT research and, indeed, in the field of neurodevelopmental disorders as a whole, and spurred the search for potential therapies for RTT and related syndromes. In this context, the discovery that expression of BDNF is dysregulated in RTT and mouse models of the disease has taken on particular importance. This chapter reviews the still evolving story of how MeCP2 might regulate expression of BDNF, the functional consequences of BDNF deficits in Mecp2 mutant mice, and progress in developing BDNF-targeted therapies for the treatment of RTT.
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9. Kern JK, Geier DA, Geier MR. {{Evaluation of regression in autism spectrum disorder based on parental reports}}. {N Am J Med Sci};2014 (Jan);6(1):41-47.
BACKGROUND: Research indicates that some children with autism spectrum disorder (ASD) experience a developmental regression. AIMS: The study examined the percentage of children with autism, pervasive developmental disorder (PDD), ASD, and Asperger syndrome (AS) who were considered to be delayed (D), regressed (R), or delayed and later regressed (DR) and examined any relationship with autism severity, time of onset, factors associated with onset, gastrointestinal (GI) symptoms, race, age, and gender. MATERIALS AND METHODS: The study reviewed developmental and medical information based on parental reports of 135 children with a diagnosis of autism, PDD, ASD, or AS. RESULTS: The number of children in the D group was 53 (39.2%) with 19 (14.1%) in the DR group and 63 (46.7%) in the R group. Thus, 82 children (60.7%) were reported to have R. In regard to onset of symptoms, there was a significant difference between the D and R groups as well as between the DR and R groups. The analyses showed that there was no significant relationship between age, gender, race, severity, or GI symptoms and membership in any group; D, DR, or R. The majority of parents reported that the regression was preceded by or was associated with vaccinations (57.3%) or another medically related event (11.0%). CONCLUSIONS: The findings are consistent with previous research and reinforce our understanding of regression in those children with an ASD diagnosis.
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10. Koegel RL, Kim S, Koegel LK. {{Training Paraprofessionals to Improve Socialization in Students with ASD}}. {J Autism Dev Disord};2014 (Mar 27)
An important line of research relates to whether school personnel, such as paraprofessionals, who are present during unstructured social periods, such as lunch-recess, could successfully implement interventions to improve socialization between students with ASD and their typical peers in a group setting. Therefore, within the context of a multiple baseline across participants design, we assessed whether training paraprofessionals to provide social interventions would enhance social development in students with ASD in a group setting. Results showed that paraprofessionals who were not providing any social opportunities during baseline were able to meet fidelity of implementation following a brief training. Consequently, the children with ASD increased their levels of engagement and rates of initiation with typically developing peers following intervention. Implications for training paraprofessionals to implement effective social interventions for students with ASD are discussed.
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11. Kovac J, Podkrajsek KT, Luksic MM, Battelino T. {{Weak association of glyoxalase 1 (GLO1) variants with autism spectrum disorder}}. {Eur Child Adolesc Psychiatry};2014 (Mar 27)
The prevalence of the autism spectrum disorder (ASD) was recently estimated to 1 in 88 children by the CDC MMWR. In up to 25 % of the cases, the genetic cause can be identified. Past studies identified increased level of advanced glycation end products (AGE) in the brain samples of ASD patients. The methylglyoxal (MG) is one of the main precursors for AGE formation. Humans developed effective mechanism of the MG metabolism involving two enzymes glyoxalase 1 (GLO1) and hydroxyacylglutathione hydrolase (HAGH). Our aim was to analyse genetic variants of GLO1 and HAGH in population of 143 paediatric participants with ASD. We detected 7 genetic variants in GLO1 and 16 variants in HAGH using high-resolution melting (HRM) analysis. A novel association between variant rs1049346 and ASD [OR (allele C)] = 1.5; 95 % CI = 1.1-2.2 and p < 0.05) was identified, and weak association between ASD and variant rs2736654 [OR (allele A)] = 2.2; 95 % CI = 0.99-4.9; p = 0.045) was confirmed. Additionally, a novel genetic variant (GLO1 c.484G > A, p.Ala161Thr) with predicted potentially damaging effect on the activity of the glyoxalase 1 that may contribute to the aetiology of ASD was identified in one participant with ASD. No association between genetic variants of the HAGH gene and ASD was found. Increased level of MG and, consequently, AGEs can induce oxidative stress, mitochondrial dysfunction and inflammation all of which have been implicated to act in the aetiology of the ASD. Our results indicate potential importance of MG metabolism in ASD. However, these results must be interpreted with caution until a causative relation is demonstrated.
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12. Lee J, Spratling R. {{Care of Gastrostomy Feeding Tube in Children With Developmental Disabilities}}. {Rehabil Nurs};2014 (Mar 25)
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13. Marrale M, Albanese NN, Cali F, Romano V. {{Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation}}. {PLoS One};2014;9(3):e90947.
Autism Spectrum Disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies have investigated the role of de novo Copy Number Variants (CNVs) and microRNAs as important but distinct etiological factors in ASD. We developed a novel computational procedure to assess the potential pathogenic role of microRNA genes overlapping de novo CNVs in ASD patients. Here we show that for chromosomes # 1, 2 and 22 the actual number of miRNA loci affected by de novo CNVs in patients was found significantly higher than that estimated by Monte Carlo simulation of random CNV events. Out of 24 miRNA genes over-represented in CNVs from these three chromosomes only hsa-mir-4436b-1 and hsa-mir-4436b-2 have not been detected in CNVs from non-autistic subjects as reported in the Database of Genomic Variants. Altogether the results reported in this study represent a first step towards a full understanding of how a dysregulated expression of the 24 miRNAs genes affect neurodevelopment in autism. We also propose that the procedure used in this study can be effectively applied to CNVs/miRNA genes association data in other genomic disorders beyond autism.
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14. Murphy JW, Foxe JJ, Peters JB, Molholm S. {{Susceptibility to Distraction in Autism Spectrum Disorder: Probing the Integrity of Oscillatory Alpha-Band Suppression Mechanisms}}. {Autism Res};2014 (Mar 27)
When attention is directed to one information stream over another, the brain can be configured in advance to selectively process the relevant stream and suppress potentially distracting inputs. One key mechanism of suppression is through the deployment of anticipatory alpha-band ( approximately 10 Hz) oscillatory activity, with greater alpha-band power observed in cortical regions that will ultimately process the distracting stream. Atypical attention has been implicated in autism spectrum disorder (ASD), including greater interference by distracting task-irrelevant inputs. Here we tested the integrity of these alpha-band mechanisms in ASD using an intersensory attention task. Electroencephalography (EEG) was recorded while participants were cued on a trial-by-trial basis to selectively deploy attention to the visual or auditory modality in anticipation of a target within the cued modality. Whereas typically developing (TD) children showed the predicted alpha-band modulation, with increased alpha-band power over parieto-occipital scalp when attention was deployed to the auditory compared with the visual modality, this differential pattern was entirely absent at the group level in the ASD cohort. Further, only the ASD group showed impaired performance due to the presence of task-irrelevant sensory information. These data suggest that impaired modulation of alpha-band activity plays a role in increased distraction from extraneous sensory inputs in ASD. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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15. Ngounou Wetie AG, Wormwood K, Thome J, Dudley E, Taurines R, Gerlach M, Woods AG, Darie CC. {{A pilot proteomic study of protein markers in autism spectrum disorder}}. {Electrophoresis};2014 (Mar 29)
Autism spectrum disorder (ASD) diagnosis is increasing, with 1/88 children believed to be affected by the disorder, with a most recent survey suggesting numbers as high as 1/50. Treatment and understanding of ASD causes is a pressing health concern. ASD protein biomarkers may provide clues about ASD cause. Protein biomarkers for ASDs could be used for ASD diagnosis, subtyping, treatment monitoring and identifying therapeutic targets. Here we analyzed the sera from 7 children with ASD and 7 matched controls using Tricine gel electrophoresis (Tricine-PAGE) and liquid chromatography-tandem mass spectrometry (LC-MS/MS). Overall, we found increased levels of apolipoproteins (Apos) ApoA1 and ApoA4, involved in cholesterol metabolism and of serum paraoxanase/arylesterase 1 (PON1), involved in preventing oxidative damage, in the sera of children with ASD, compared with their matched controls. All three proteins are predicted to interact with each other and are parts of High Density Lipoproteins (HDLs). Further studies are needed to validate these findings in larger subject numbers. This article is protected by copyright. All rights reserved.
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16. Olexova L, Senko T, Stefanik P, Talarovicova A, Krskova L. {{Habituation of exploratory behaviour in VPA rats: animal model of autism}}. {Interdiscip Toxicol};2013 (Dec);6(4):222-227.
Autism is a neurodevelopmental disorder with multifactorial aetiology, represented as impairment in social behaviour, communication and the occurrence of repetitive activities, which can be observed in the early life. The core features are frequently accompanied by other manifestations, including limited environmental exploration. The aim of the presented study, realised on an animal model of autism – VPA rats, i.e. animals prenatally affected with valproic acid on gestation day 12.5, was to investigate the habituation process of exploratory activity (manifested by a gradual decrease in the intensity of locomotor activity), which reflects the stage of the central nervous system. VPA rats were tested in open-field in three developmental periods – weaning (postnatal day 21 – PND 21), puberty (PND 42) and adulthood (PND 72). In each period of ontogenesis, the rapidity of habituation was evaluated by using the method of linear regression. Compared to controls, VPA rats showed a significant decrease in the intensity and an increase in the rapidity of exploratory activity habituation during puberty and adulthood. Our results indicate that the animal model of autism, i.e. VPA rats, showed disabilities in the development of the nervous system. These findings can help confirm not only the validity of this animal model of autism but can also help better understand neuronal changes in humans with autism.
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17. Pathania M, Davenport EC, Muir J, Sheehan DF, Lopez-Domenech G, Kittler JT. {{The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines}}. {Transl Psychiatry};2014;4:e374.
Copy number variation (CNV) at the 15q11.2 region has been identified as a significant risk locus for neurological and neuropsychiatric conditions such as schizophrenia (SCZ) and autism spectrum disorder (ASD). However, the individual roles for genes at this locus in nervous system development, function and connectivity remain poorly understood. Haploinsufficiency of one gene in this region, Cyfip1, may provide a model for 15q11.2 CNV-associated neuropsychiatric phenotypes. Here we show that altering CYFIP1 expression levels in neurons both in vitro and in vivo influences dendritic complexity, spine morphology, spine actin dynamics and synaptic alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor lateral diffusion. CYFIP1 is highly enriched at synapses and its overexpression in vitro leads to increased dendritic complexity. Neurons derived from Cyfip1 heterozygous animals on the other hand, possess reduced dendritic complexity, increased mobile F-actin and enhanced GluA2-containing AMPA receptor mobility at synapses. Interestingly, Cyfip1 overexpression or haploinsufficiency increased immature spine number, whereas activity-dependent changes in spine volume were occluded in Cyfip1 haploinsufficient neurons. In vivo, Cyfip1 heterozygous animals exhibited deficits in dendritic complexity as well as an altered ratio of immature-to-mature spines in hippocampal CA1 neurons. In summary, we provide evidence that dysregulation of CYFIP1 expression levels leads to pathological changes in CNS maturation and neuronal connectivity, both of which may contribute to the development of the neurological symptoms seen in ASD and SCZ.
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18. Pears KC, Kim HK, Healey CV, Yoerger K, Fisher PA. {{Improving Child Self-Regulation and Parenting in Families of Pre-kindergarten Children with Developmental Disabilities and Behavioral Difficulties}}. {Prev Sci};2014 (Mar 28)
The transition to school may be particularly difficult for children with developmental disabilities and behavioral difficulties. Such children are likely to experience problems with self-regulation skills, which are critical to school adjustment. Additionally, inconsistent discipline practices and low parental involvement in children’s schooling may contribute to a poor transition to school. This study employed a randomized clinical trial to examine the effects of a school readiness intervention that focused on children’s self-regulation skills as well as parenting and parental involvement in school. Results showed that the intervention had positive effects on children’s self-regulation in kindergarten as measured by teacher and observer reports. Additionally, the intervention significantly reduced ineffective parenting prior to school entry, which in turn affected parental involvement. This finding is significant because it demonstrates that parental involvement in school may be increased by efforts to improve parenting skills in general. Overall, the study demonstrated that school adjustment across kindergarten among children with developmental disabilities and behavioral difficulties can be enhanced through an intervention aimed specifically at improving school readiness skills.
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19. Peirone A, Contreras A, Ferrero A, da Costa RN, Pedra SF, Pedra CA. {{Immediate and short-term outcomes after percutaneous atrial septal defect closure using the new Nit-Occlud ASD-R device}}. {Catheter Cardiovasc Interv};2014 (Feb 12)
Objectives: To evaluate the feasibility, safety and efficacy of implantation of the new Nit Occlud ASD-R(R) (NOASD-R) device for percutaneous closure of ostium secundum atrial septal defects (ASD-OS). Background: Device catheter implantation has become the method of choice for most patients with ASD-OS. No single device has proven to be ideal for this type of procedure. The NOASD-R has a distinct design that may help to overcome limitations of other devices. Methods: A prospective, single arm, observational study including all consecutive patients receiving the NOASD-R device for ASD-OS closure between October 2011 and September 2013 was performed. Patient selection, device design, deployment technique, complications and procedural outcomes were evaluated. Results: Seventy-four patients underwent attempted transcatheter ASD-OS closure using the NOASD-R device. Implantation of the occluder was successful in 73 patients (98.6%). The majority of patients were female (79.5%) with a median age of 17.2 years (range: 2 – 74). TTE obtained at the 3 or 6 month follow-up visit showed complete occlusion of the ASD-OS in 72/73 patients (98.6%). At a mean follow-up interval of 11.4 +/- 6.8 months there have been no episodes of late device embolization, cardiac perforation or erosion, endocarditis, thromboembolism, wire fracture, embolic neurologic events or death. Conclusions: We report the first worldwide clinical experience using the NOASD-R device for ASD-OS closure. The procedure was feasible, with a high rate of successful implantations, and safe. High ASD-OS closure rates and no complications were encountered during short-term follow up. (c) 2014 Wiley Periodicals, Inc.
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20. Renwick R, Schormans AF, Shore D. {{Hollywood takes on intellectual/ developmental disability: cinematic representations of occupational participation}}. {OTJR (Thorofare N J)};2014 (Winter);34(1):20-31.
Adults with intellectual/developmental disability (IDD), and their occupational participation, are vastly under-represented in Hollywood films. Because films often provide individuals’ only experience of people with IDD, cinematic representations can influence audience perceptions. Thus, films can help inform public perceptions about desired and appropriate occupational participation for people with IDD, potentially impacting their access to meaningful occupational participation and achievement of occupational potential. Accordingly, this research examined occupational portrayals of adults with IDD in contemporary Hollywood films. Occupational portrayals, as defined here, refer to representations of the dynamic process of the person participating in occupation(s) in a context. Grounded theory methods guided coding and analysis of qualitative data collected from eight contemporary films using an occupation-focused tool. Two major, striking themes emerging from the qualitative analysis–infantilization and simplification of participation in complex occupations (with three associated sub-themes)–are discussed. Implications of the findings and future research directions are considered.
21. Shobana M, Saravanan C. {{Comparative Study on Attitudes and Psychological Problems of Mothers towards Their Children with Developmental Disability}}. {East Asian Arch Psychiatry};2014 (Mar);24(1):16-22.
OBJECTIVE. Parents’ positive attitudes and psychological wellbeing play an important role in the development of the children with developmental disability. This study aimed to measure the prevalence of psychological problems among mothers of children with autism disorder, intellectual disability, and Down syndrome. The second aim was to assess the differences in mothers’ attitudes and psychological problems among their children with intellectual disability, autism disorder, and Down syndrome. The third aim was to identify whether negative attitude was a predictor of psychological problems in these mothers. METHODS. In this study, 112 mothers of children having mild and moderate levels of autism disorder, Down syndrome, and intellectual disability were assessed using the Parental Attitude Scale and General Health Questionnaire-28. RESULTS. Overall, mothers of children with intellectual disability were found to have the most negative attitude towards their child. Mothers of children with autism disorder exhibited higher scores on somatic symptoms, anxiety, and social dysfunction when compared with their counterparts with Down syndrome and intellectual disability. Negative attitude was a significant predictor of psychological problems. CONCLUSION. Parental attitudes and psychological problems would vary among mothers of children with different types of developmental disability.
22. Stoner R, Chow ML, Boyle MP, Sunkin SM, Mouton PR, Roy S, Wynshaw-Boris A, Colamarino SA, Lein ES, Courchesne E. {{Patches of disorganization in the neocortex of children with autism}}. {N Engl J Med};2014 (Mar 27);370(13):1209-1219.
BACKGROUND: Autism involves early brain overgrowth and dysfunction, which is most strongly evident in the prefrontal cortex. As assessed on pathological analysis, an excess of neurons in the prefrontal cortex among children with autism signals a disturbance in prenatal development and may be concomitant with abnormal cell type and laminar development. METHODS: To systematically examine neocortical architecture during the early years after the onset of autism, we used RNA in situ hybridization with a panel of layer- and cell-type-specific molecular markers to phenotype cortical microstructure. We assayed markers for neurons and glia, along with genes that have been implicated in the risk of autism, in prefrontal, temporal, and occipital neocortical tissue from postmortem samples obtained from children with autism and unaffected children between the ages of 2 and 15 years. RESULTS: We observed focal patches of abnormal laminar cytoarchitecture and cortical disorganization of neurons, but not glia, in prefrontal and temporal cortical tissue from 10 of 11 children with autism and from 1 of 11 unaffected children. We observed heterogeneity between cases with respect to cell types that were most abnormal in the patches and the layers that were most affected by the pathological features. No cortical layer was uniformly spared, with the clearest signs of abnormal expression in layers 4 and 5. Three-dimensional reconstruction of layer markers confirmed the focal geometry and size of patches. CONCLUSIONS: In this small, explorative study, we found focal disruption of cortical laminar architecture in the cortexes of a majority of young children with autism. Our data support a probable dysregulation of layer formation and layer-specific neuronal differentiation at prenatal developmental stages. (Funded by the Simons Foundation and others.).
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23. Sugarman LI, Garrison BL, Williford KL. {{Symptoms as solutions: hypnosis and biofeedback for autonomic regulation in autism spectrum disorders}}. {Am J Clin Hypn};2013 (Oct);56(2):152-173.
The Autonomic Dysregulation Theory of autism posits that a phylogenetically early autonomic defect leads to overarousal and impairments in language and social engagement. Cognitive rigidity and repetitive behaviors manifest as mitigating efforts. Focusing on the implications of this premise may provide more productive therapeutic approaches than existing methods. It suggests that self-regulation therapy using hypnosis and biofeedback should be highly effective, especially for young people. Hypnotic strategies can utilize restrictive repetitive behaviors in trance as resources for comfort and control. Biofeedback training can be tailored to focus on autonomic regulation. The authors develop this theory and describe methods of integrating hypnosis and biofeedback that have been therapeutic for people with autism. Directions for future research to validate this approach are discussed.
24. Sun JG, Sun XR. {{[Encephalopathy therapeutic tongue acupoint apparatus (ETTAA) for 42 cases of autism]}}. {Zhongguo Zhen Jiu};2014 (Jan);34(1):96-98.
OBJECTIVE: To observe the efficacy of encephalopathy therapeutic tongue acupoint apparatus (ETTAA) in the treatment of autism. METHODS: Eighty-four children of autism were randomly divided into a tongue acupuncture group (group A) and a conventional training group (group B), 42 cases in each group. The behavior training and sensory integration training were carried out in group B and the ETTAA was added in group A. The apparatus was switched on for 20 min every time and 3 times a day. Treatment of two months were carried out in both groups. The score of childhood autism rating scale (CARS) and clinical efficacy in both groups were observed before and after treatment. RESULTS: After treatment, the CARS in both groups were significantly reduced (42.39 +/- 6.86 vs 32.15 +/- 5.12, P < 0.001; 44.58 +/- 6.76 vs 39.72 +/- 7.11, P < 0.05), which was more significant in group A (P < 0.01). The totally effective rate in group A [90.5% (38/42)] was superior to that in group B [66.7% (28/42), P < 0.01]. CONCLUSION: The clinical efficacy in tongue acupuncture group is apparently superior to that in conventional training group, ETTAA combined with conventional training have a better curative effect in the treatment of autism.
25. Wang HY, Berg C. {{Participation of young adults with high-functioning autism in Taiwan: a pilot study}}. {OTJR (Thorofare N J)};2014 (Winter);34(1):41-51.
This pilot study aimed to investigate the activity participation of young adults with high-functioning autism (HFA) living in Taiwan. Eleven young adults with HFA, their caring adults, and 11 matched typically developing youth were recruited across Taiwan. The Adolescent and Young Adult Participation Sort-Taiwanese version (AYAPS-T) was administered to all three groups to compare the activity participation. In addition, youth with HFA identified activities in which they desired to participate and barriers hindering their participation. The results of this study suggest that youth with HFA had lower participation rates in activities across different domains than their typically developing peers. Youth with HFA were able to identify the activities they desired to do and the barriers hindering their participation. No significant differences in participation were found between the results reported by the caring adults and youth with HFA. Occupational therapy practitioners may work on eliminating the personal and environmental barriers that impede participation as youth with HFA transition out of secondary school.
26. Wassink TH, Hazlett HC, Davis LK, Reiss AL, Piven J. {{Testing for association of the monoamine oxidase A promoter polymorphism with brain structure volumes in both autism and the fragile X syndrome}}. {J Neurodev Disord};2014 (Mar 26);6(1):6.
BACKGROUND: Autism and the fragile X syndrome (FXS) are related to each other genetically and symptomatically. A cardinal biological feature of both disorders is abnormalities of cerebral cortical brain volumes. We have previously shown that the monoamine oxidase A (MAOA) promoter polymorphism is associated with cerebral cortical volumes in children with autism, and we now sought to determine whether the association was also present in children with FXS. METHODS: Participants included 47 2-year-old Caucasian boys with FXS, some of whom also had autism, as well as 34 2-year-old boys with idiopathic autism analyzed in a previous study. The MAOA promoter polymorphism was genotyped and tested for relationships with gray and white matter volumes of the cerebral cortical lobes and cerebro-spinal fluid volume of the lateral ventricles. RESULTS: MAOA genotype effects in FXS children were the same as those previously observed in idiopathic autism: the low activity MAOA promoter polymorphism allele was associated with increased gray and white matter volumes in all cerebral lobes. The effect was most pronounced in frontal lobe gray matter and all three white matter regions: frontal gray, F = 4.39, P = 0.04; frontal white, F = 5.71, P = 0.02; temporal white, F = 4.73, P = 0.04; parieto-occipital white, F = 5.00, P = 0.03. Analysis of combined FXS and idiopathic autism samples produced P values for these regions <0.01 and effect sizes of approximately 0.10. CONCLUSIONS: The MAOA promoter polymorphism is similarly associated with brain structure volumes in both idiopathic autism and FXS. These data illuminate a number of important aspects of autism and FXS heritability: a genetic effect on a core biological trait of illness, the specificity/generalizability of the genetic effect, and the utility of examining individual genetic effects on the background of a single gene disorder such as FXS.
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27. Wood JJ, Fujii C, Renno P, Van Dyke M. {{Impact of Cognitive Behavioral Therapy on Observed Autism Symptom Severity During School Recess: A Preliminary Randomized, Controlled Trial}}. {J Autism Dev Disord};2014 (Mar 27)
This study compared cognitive behavioral therapy (CBT) and treatment-as-usual (TAU) in terms of effects on observed social communication-related autism symptom severity during unstructured play time at school for children with autism spectrum disorders (ASD). Thirteen children with ASD (7-11 years old) were randomly assigned to 32 sessions of CBT or community-based psychosocial treatment (TAU) for 16 weeks. The CBT program is based on the memory retrieval competition model and emphasizes the development of perspective-taking through guided behavioral experimentation supplemented with reflective Socratic discussion and supported by parent training and school consultation to promote generalization of social communication and emotion regulation skills. Trained observers blind to treatment condition observed each child during recess on two separate days at baseline and again at posttreatment, using a structured behavioral observation system that generates frequency scores for observed social communication-related autism symptoms. CBT outperformed TAU at posttreatment on the frequency of self-isolation, the proportion of time spent with peers, the frequency of positive or appropriate interaction with peers, and the frequency of positive or appropriate peer responses to the target child (d effect size range 1.34-1.62). On average, children in CBT were engaged in positive or appropriate social interaction with peers in 68.6 % of observed intervals at posttreatment, compared to 25 % of intervals for children in TAU. Further investigation of this intervention modality with larger samples and follow-up assessments is warranted.
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28. Zainal H, Magiati I, Tan JW, Sung M, Fung DS, Howlin P. {{Erratum to: A Preliminary Investigation of the Spence Children’s Anxiety Parent Scale as a Screening Tool for Anxiety in Young People with Autism Spectrum Disorders}}. {J Autism Dev Disord};2014 (Mar 26)
