1. {{Study finds differences in social skills between girls and boys with autism}}. {Nurs Stand};2016 (Jan 20);30(21):15.
Girls with autism are more socially motivated and have more intimate friendships than boys with the condition, but do not recognise conflict in these friendships as well as girls without autism, a study suggests.
Lien vers le texte intégral (Open Access ou abonnement)
2. Bremer E, Lloyd M. {{School-Based Fundamental-Motor-Skill Intervention for Children With Autism-Like Characteristics: An Exploratory Study}}. {Adapt Phys Activ Q};2016 (Jan);33(1):66-88.
The purpose of this pilot study was to demonstrate the impact of a fundamental-motor-skill (FMS) intervention on the motor skills of 3- to 7-year-old children with autism-like characteristics in an early intervention classroom. A secondary purpose was to qualitatively assess the impact of the program as described by the classroom’s special education teacher. All children in the classroom (N = 5) took part in an FMS intervention for two 6-wk blocks (fall 2013 and winter 2014). Motor-skill proficiency and social skills were assessed at 3 times: baseline, after Block 1 of the intervention, and after Block 2 of the intervention. In addition, an interview was conducted with the classroom teacher after Assessment 3 to draw further insights into the relative success and impact of the program. Results were analyzed through a visual analysis and presented individually. They indicated improvements in the participants’ individual FMS and social-skill scores, possible improvements in declarative knowledge, and an increase in the special education teacher’s readiness to teach FMS; further research with larger, controlled samples is warranted.
Lien vers le texte intégral (Open Access ou abonnement)
3. Chen C, Van Horn JD. {{Developmental neurogenetics and multimodal neuroimaging of sex differences in autism}}. {Brain Imaging Behav};2016 (Jan 19)
Examining sex differences in the brain has been historically contentious but is nonetheless important for advancing mental health for both girls and boys. Unfortunately, females in biomedical research remain underrepresented in most mental health conditions including autism spectrum disorders (ASD), even though equal inclusion of females would improve treatment for girls and yield benefits to boys. This review examines sex differences in the relationship between neuroanatomy and neurogenetics of ASD. Recent findings reveal that girls diagnosed with ASD exhibit more intellectual and behavioral problems compared to their male counterparts, suggesting that girls may be less likely diagnosed in the absence of such problems or that they require a higher mutational load to meet the diagnostic criteria. Thus far, the female biased effect of chromosome 4, 5p15.33, 8p, 9p24.1, 11p12-13, 15q, and Xp22.3 and the male biased effect of 1p31.3, 5q12.3, 7q, 9q33.3, 11q13.4, 13q33.3, 16p11.2, 17q11-21, Xp22.33/Yp11.31, DRD1, NLGN3, MAOA, and SHANK1 deletion have been discovered in ASD. The SNPs of genes such as RYR2, UPP2, and the androgen receptor gene have been shown to have sex-biasing factors in both girls and boys diagnosed with ASD. These sex-related genetic factors may drive sex differences in the neuroanatomy of these girls and boys, including abnormal enlargement in temporal gray and white matter volumes, and atypical reduction in cerebellar gray matter volumes and corpus callosum fibers projecting to the anterior frontal cortex in ASD girls relative to boys. Such factors may also be responsible for the attenuation of brain sexual differentiation in adult men and women with ASD; however, much remains to be uncovered or replicated. Future research should leverage further the association between neuroanatomy and genetics in girls for an integrated and interdisciplinary understanding of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
4. Davis JM, Finke E, Hickerson B. {{Service Delivery Experiences and Intervention Needs of Military Families with Children with ASD}}. {J Autism Dev Disord};2016 (Jan 19)
The purpose of this study was to describe the experiences of military families with children with autism spectrum disorder (ASD) specifically as it relates to relocation. Online survey methodology was used to gather information from military spouses with children with ASD. The finalized dataset included 189 cases. Descriptive statistics and frequency analyses were used to examine participant demographics and service delivery questions. Results indicated the larger sample of military spouses largely confirmed the experiences reported qualitatively in previous studies and contributed information that was previously unknown about variables associated with the access, availability, quality, and frequency of intervention services for military families with children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
5. Dempsey J, Dempsey AG, Guffey D, Minard CG, Goin-Kochel RP. {{Brief Report: Further Examination of Self-Injurious Behaviors in Children and Adolescents with Autism Spectrum Disorders}}. {J Autism Dev Disord};2016 (Jan 19)
Self-injurious behaviors (SIB) are problematic for many children with autism spectrum disorders (ASD). Existing models to explain factors contributing to SIB fail to account for a large proportion of variance in SIB. This study attempted to explain a greater proportion of variance in SIB by addressing methodological/theoretical limitations in previous research using a sample of 2341 youth with ASD. The model comprised of predictors identified by the prior study continued to explain only a small proportion of variance in the SIB score (R 2 = .13). Revisions to the model failed to substantially improve model fit. Results suggest that psychological, cognitive, and behavioral factors alone do not adequately explain common measures of SIB and highlight the need for further research.
Lien vers le texte intégral (Open Access ou abonnement)
6. Feng J, Shan L, Du L, Wang B, Li H, Wang W, Wang T, Dong H, Yue X, Xu Z, Staal WG, Jia F. {{Clinical improvement following vitamin D3 supplementation in Autism Spectrum Disorder}}. {Nutr Neurosci};2016 (Jan 18)
Objective High prevalence of vitamin D deficiency was previously reported in children with Autism Spectrum Disorder (ASD), but little is known about the efficacy of vitamin D3 treatment in ASD, although data from pilot studies seem promising. We hypothesized that serum vitamin D levels are reduced in ASD and correlate with the severity of disease. Also, we hypothesized that vitamin D3 treatment may be beneficial for a considerable portion of children with ASD. Methods In total, 215 children with ASD and 285 healthy control children were recruited in our study. Thirty seven of 215 ASD children received vitamin D3 treatment. The Autism Behaviour Checklist (ABC) and the Childhood Autism Rating Scale (CARS) were used to assess autism symptoms. High-performance liquid chromatography was used to assess the serum 25-hydroxyvitamin D [25(OH) D] level. Evaluations of ABC, CARS, and serum 25(OH) D levels were performed before and after 3 months of treatment. Results Serum levels of 25(OH) D were significantly lower in ASD children than typically developing children. Levels of serum 25(OH) D were negatively correlated with ABC total scores and language subscale scores. After vitamin D3 supplementation, symptom scores were significantly reduced on the CARS and ABC. In addition, the data also suggest that treatment effects were more pronounced in younger children with ASD. Conclusion Vitamin D deficiency might contribute to the aetiology of ASD. Supplementation of vitamin D3, which is a safe and cost-effective form of treatment, may significantly improve the outcome of some children with ASD, especially younger children (identifier ChiCTR-CCC-13004498). Clinical Trial Registration The trial ‘Association of Polymorphisms of Vitamin D Metabolism-Related Genes With Autism and the Treatment of Autism with Vitamin D’ has been registered at www.chictr.org/cn/proj/show.aspx ? proj=6135 (identifier ChiCTR-CCC-13004498).
Lien vers le texte intégral (Open Access ou abonnement)
7. Kranz TM, Kopp M, Waltes R, Sachse M, Duketis E, Jarczok TA, Degenhardt F, Gorgen K, Meyer J, Freitag CM, Chiocchetti AG. {{Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder}}. {Autism Res};2016 (Jan 20)
Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR = 1.48, CI95 = 1.06-2.08, P = 0.022) for the minor A allele of variant rs237889G>A in sample 1 (N = 135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N = 542 families), this finding was confirmed (OR = 1.12; CI95 = 1.01-1.24, random effects P = 0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview – revised (ADI-R), with highly significant increases in social interaction deficits. Our results corroborate the implication of common OXTR variants in the etiology of ASD. There is a need for functional studies to delineate the neurobiological implications of this and other association findings. (172/250). Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
8. Mandy W, Lai MC. {{Annual Research Review: The role of the environment in the developmental psychopathology of autism spectrum condition}}. {J Child Psychol Psychiatry};2016 (Jan 19)
BACKGROUND: Although autism spectrum condition (ASC) is strongly genetic in origin, accumulating evidence points to the critical roles of various environmental influences on its emergence and subsequent developmental course. METHODS: A developmental psychopathology framework was used to synthesise literature on environmental factors associated with the onset and course of ASC (based on a systematic search of the literature using PubMed, PsychInfo and Google Scholar databases). Particular emphasis was placed on gene-environment interplay, including gene-environment interaction (G x E) and gene-environment correlation (rGE). RESULTS: Before conception, advanced paternal and maternal ages may independently enhance offspring risk for ASC. Exogenous prenatal risks are evident (e.g. valproate and toxic chemicals) or possible (e.g. selective serotonin reuptake inhibitors), and processes endogenous to the materno-foeto-placental unit (e.g. maternal diabetes, enhanced steroidogenic activities and maternal immune activation) likely heighten offspring vulnerability to ASC. Folate intake is a prenatal protective factor, with a particular window of action around 4 weeks preconception and during the first trimester. These prenatal risks and protective mechanisms appear to involve G x E and potentially rGE. A variety of perinatal risks are related to offspring ASC risk, possibly reflecting rGE. Postnatal social factors (e.g. caregiver-infant interaction, severe early deprivation) during the first years of life may operate through rGE to influence the likelihood of manifesting a full ASC phenotype from a ‘prodromal’ phase (a proposal distinct to the discredited and harmful ‘refrigerator mother hypothesis’); and later postnatal risks, after the full manifestation of ASC, shape life span development through transactions mediated by rGE. There is no evidence that vaccination is a postnatal risk for ASC. CONCLUSIONS: Future investigations should consider the specificity of risks for ASC versus other atypical neurodevelopmental trajectories, timing of risk and protective mechanisms, animal model systems to study mechanisms underlying gene-environment interplay, large-sample genome-envirome designs to address G x E and longitudinal studies to elucidate how rGE plays out over time. Clinical and public health implications are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
9. Sener EF, Cikili Uytun M, Korkmaz Bayramov K, Zararsiz G, Oztop DB, Canatan H, Ozkul Y. {{The roles of CC2D1A and HTR1A gene expressions in autism spectrum disorders}}. {Metab Brain Dis};2016 (Jan 19)
Classical autism belongs to a group of heterogeneous disorders known as autism spectrum disorders (ASD). Autism is defined as a neurodevelopmental disorder, characterized by repetitive stereotypic behaviors or restricted interests, social withdrawal, and communication deficits. Numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism but the etiology of this disorder is unknown in many cases. CC2D1A gene has been linked to mental retardation (MR) in a family with a large deletion before. Intellectual disability (ID) is a common feature of autistic cases. Therefore we aimed to investigate the expressions of CC2D1A and HTR1A genes with the diagnosis of autism in Turkey. Forty-four autistic patients (35 boys, 9 girls) and 27 controls were enrolled and obtained whole blood samples to isolate RNA samples from each participant. CC2D1A and HTR1A gene expressions were assessed by quantitative Real-Time PCR (qRT-PCR) in Genome and Stem Cell Center, Erciyes University. Both expressions of CC2D1A and HTR1A genes studied on ASD cases and controls were significantly different (p < 0.001). The expression of HTR1A was undetectable in the ASD samples. Comparison of ID and CC2D1A gene expression was also found statistically significant (p = 0.028). CC2D1A gene expression may be used as a candidate gene for ASD cases with ID. Further studies are needed to investigate the potential roles of these CC2D1A and HTR1A genes in their related pathways in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
10. Strahan BE, Elder JH. {{Video Game Playing Effects on Obesity in an Adolescent with Autism Spectrum Disorder: A Case Study}}. {Autism Res Treat};2015;2015:128365.
Adolescent obesity has tripled in the past two decades, and adolescents with disabilities, specifically autism spectrum disorders (ASD), may be at greater risk for obesity due to the behavioral, physical, and psychosocial complications related to their disorder. This case study reports the effects of video game playing on an obese adolescent with ASD and illustrates the use of a multiple baseline single subject design. Over 12 weeks, the participant played inactive (6 weeks) and active video games (6 weeks) on the Wii console. Physiological data were evaluated weekly at home. Stress and anxiety were measured via the Stress Survey Schedule for Individuals with Autism and Other Pervasive Non-Developmental Disorders (SSS) and the Behavior Assessment System for Children Second Edition (BASC-2) pre- and postintervention. The Therapy Attitude Inventory (TAI) was used to determine parental perception of video game playing as a socially valid intervention to reduce stress and anxiety. Results demonstrated that active video game playing slowed and/or reduced weight and BMI with minimal changes to waist-to-hip ratios, triceps skinfolds, and stress and anxiety. This study demonstrates how alternative methods for physical activity may be used to improve health outcomes of overweight/obese adolescents with ASD and suggests directions for future research.
Lien vers le texte intégral (Open Access ou abonnement)
11. Wenger TL, Kao C, McDonald-McGinn DM, Zackai EH, Bailey A, Schultz RT, Morrow BE, Emanuel BS, Hakonarson H. {{The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder}}. {Sci Rep};2016;6:19372.
While abnormal signaling mediated through metabotropic glutamate receptor 5 (mGluR5) is involved in the pathophysiology of Autism Spectrum Disorder (ASD), Fragile X Syndrome and Tuberous Sclerosis, the role of other mGluRs and their associated signaling network genes in syndromic ASD is unknown. This study sought to determine whether mGluR Copy Number Variants (CNV’s) were overrepresented in children with syndromic ASD and if mGluR « second hit » confers additional risk for ASD in 22q11.2 Deletion Syndrome (22q11DS). To determine whether mGluR network CNV’S are enriched in syndromic ASD, we examined microarrays from children with ASD (n = 539). Patient categorization (syndromic vs nonsyndromic) was done via blinded medical chart review in mGluR positive and randomly selected mGluR negative cases. 11.5% of ASD had mGluR CNV’s vs. 3.2% in controls (p < 0.001). Syndromic ASD was more prevalent in children with mGluR CNVs (74% vs 16%, p < 0.001). A comparison cohort with 22q11DS (n = 25 with ASD, n = 50 without ASD), all haploinsufficient for mGluR network gene RANBP1, were evaluated for "second mGluR hits". 20% with 22q11.2DS + ASD had "second hits" in mGluR network genes vs 2% in 22q11.2DS-ASD (p < 0.014). We propose that altered RANBP1 expression may provide a mechanistic link for several seemingly unrelated genetic and environmental forms of ASD. Lien vers le texte intégral (Open Access ou abonnement)
12. Zwaigenbaum L, Nicholas DB, Muskat B, Kilmer C, Newton AS, Craig WR, Ratnapalan S, Cohen-Silver J, Greenblatt A, Roberts W, Sharon R. {{Perspectives of Health Care Providers Regarding Emergency Department Care of Children and Youth with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Jan 19)
This study aimed to characterize the perspectives of health professionals who care for children with autism spectrum disorder (ASD) in the emergency department (ED) and to determine what strategies could optimize care. Ten physicians and twelve nurses were interviewed individually. Questions related to experiences, processes, clinical decision-making and outcomes of children with ASD recently seen in the ED. Interviews were audio recorded, transcribed, and analyzed using a qualitative framework. Participants identified factors that facilitated effective care, including communication strategies, parental involvement and teamwork. Barriers identified included child characteristics, the ED environment, and competing demands. Recommendations included additional staff training and stakeholder engagement. However, making accommodations was often described as being at odds with how the ED functioned, with implications for future service planning.
