1. Bremer E, Balogh R, Lloyd M. {{Effectiveness of a fundamental motor skill intervention for 4-year-old children with autism spectrum disorder: A pilot study}}. {Autism}. 2014.
A wait-list control experimental design was employed to investigate the effectiveness of a fundamental motor skill intervention at improving the motor skills, adaptive behavior, and social skills of 4-year-old children with autism spectrum disorder (experimental n = 5, control n = 4); the impact of intervention intensity was also explored. The experimental group significantly improved their object manipulation and overall motor scores from pre- to post-intervention. The wait-list control design revealed no group-by-time interactions; however, with the groups combined time was a significant factor for all motor variables. There were no significant changes in adaptive behavior and social skills. These preliminary findings suggest that a fundamental motor skill intervention may benefit young children with autism spectrum disorder. Future research with larger samples is warranted.
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2. Campbell SB, Leezenbaum NB, Mahoney AS, Day TN, Schmidt EN. {{Social engagement with parents in 11-month-old siblings at high and low genetic risk for autism spectrum disorder}}. {Autism}. 2014.
Infant siblings of children with an autism spectrum disorder are at heightened genetic risk to develop autism spectrum disorder. We observed high risk (n = 35) and low risk (n = 27) infants at 11 months during free play with a parent. Children were assessed for autism spectrum disorder in toddlerhood. High-risk infants with a later diagnosis (n = 10) were less socially engaged with their parents than were low-risk infants. Parent behavior during play did not vary by group. Within the high-risk group, ratings of social reciprocity at 11 months predicted Autism Diagnostic Observation Schedule severity scores at follow-up, suggesting that systematic observations of parent-infant play may be a useful addition to early assessments of emerging autism spectrum disorder.
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3. Du RY, Yiu CK, King NM, Wong VC, McGrath CP. {{Oral health among preschool children with autism spectrum disorders: A case-control study}}. {Autism}. 2014.
AIM: To assess and compare the oral health status of preschool children with and without autism spectrum disorders. METHODS: A random sample of 347 preschool children with autism spectrum disorder was recruited from 19 Special Child Care Centres in Hong Kong. An age- and gender-matched sample was recruited from mainstream preschools as the control group. Dental caries status, gingival health status, tooth wear, malocclusion, dental trauma and oral mucosal health were assessed and compared between the two groups. RESULTS: It was feasible to conduct a comprehensive oral health screening among 74.1% (257) of the children with autism spectrum disorder. The mean age was 59 +/- 10 months (range from 32 to 77 months), of whom 84.4% were males. Children with autism spectrum disorder had better gingival health than children without autism spectrum disorder (mean plaque score and gingival score p < 0.001). Children with autism spectrum disorder had less caries experiences than children without autism spectrum disorder (mean decayed, missing and filled surfaces and decayed surfaces, p < 0.05). Children with and without autism spectrum disorder had similar prevalence of tooth wear, malocclusion, dental trauma experience and oral mucosal lesions (p > 0.05). CONCLUSION: Differences in oral health status exist among preschool children with and without autism spectrum disorder. Preschool children with autism spectrum disorder exhibited lower caries experiences and better gingival health than children without autism spectrum disorder.
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4. Fatemi SH, Folsom TD. {{GABA receptor subunit distribution and FMRP-mGluR5 signaling abnormalities in the cerebellum of subjects with schizophrenia, mood disorders, and autism}}. {Schizophr Res}. 2014.
Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the brain. GABAergic receptor abnormalities have been documented in several major psychiatric disorders including schizophrenia, mood disorders, and autism. Abnormal expression of mRNA and protein for multiple GABA receptors has also been observed in multiple brain regions leading to alterations in the balance between excitatory/inhibitory signaling in the brain with potential profound consequences for normal cognition and maintenance of mood and perception. Altered expression of GABAA receptor subunits has been documented in fragile X mental retardation 1 (FMR1) knockout mice, suggesting that loss of its protein product, fragile X mental retardation protein (FMRP), impacts GABAA subunit expression. Recent postmortem studies from our laboratory have shown reduced expression of FMRP in the brains of subjects with schizophrenia, bipolar disorder, major depression, and autism. FMRP acts as a translational repressor and, under normal conditions, inhibits metabotropic glutamate receptor 5 (mGluR5)-mediated signaling. In fragile X syndrome (FXS), the absence of FMRP is hypothesized to lead to unregulated mGluR5 signaling, ultimately resulting in the behavioral and intellectual impairments associated with this disorder. Our laboratory has identified changes in mGluR5 expression in autism, schizophrenia, and mood disorders. In the current review article, we discuss our postmortem data on GABA receptors, FMRP, and mGluR5 levels and compare our results with other laboratories. Finally, we discuss the interactions between these molecules and the potential for new therapeutic interventions that target these interconnected signaling systems.
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5. Han K, Chen H, Gennarino VA, Richman R, Lu HC, Zoghbi HY. {{Fragile X-like behaviors and abnormal cortical dendritic spines in Cytoplasmic FMR1 interacting protein 2 mutant mice}}. {Hum Mol Genet}. 2014.
Silencing of fragile X mental retardation 1 (FMR1) gene and loss of fragile X mental retardation protein (FMRP) cause fragile X syndrome (FXS), a genetic disorder characterized by intellectual disability and autistic behaviors. FMRP is an mRNA-binding protein regulating neuronal translation of target mRNAs. Abnormalities in actin-rich dendritic spines are major neuronal features in FXS, but the molecular mechanism and identity of FMRP targets mediating this phenotype remain largely unknown. Cytoplasmic FMR1 interacting protein 2 (Cyfip2) was identified as an interactor of FMRP, and its mRNA is a highly ranked FMRP target in mouse brain. Importantly, Cyfip2 is a component of WAVE regulatory complex, a key regulator of actin cytoskeleton, suggesting that Cyfip2 could be implicated in the dendritic spine phenotype of FXS. Here we generated and characterized Cyfip2 mutant (Cyfip2+/-) mice. We found that Cyfip2+/- mice exhibited behavioral phenotypes similar to Fmr1 null (Fmr1-/y) mice, an animal model of fragile X syndrome. Synaptic plasticity and dendritic spines were normal in Cyfip2+/- hippocampus. However, dendritic spines were altered in Cyfip2+/- cortex, and the dendritic spine phenotype of Fmr1-/y cortex was aggravated in Fmr1-/y;Cyfip2+/- double mutant mice. In addition to the spine changes at basal state, metabotropic glutamate receptor (mGluR)-induced dendritic spine regulation was impaired in both Fmr1-/y and Cyfip2+/- cortical neurons. Mechanistically, mGluR activation induced mRNA translation-dependent increase of Cyfip2 in wild-type cortical neurons, but not in Fmr1-/y or Cyfip2+/- neurons. These results suggest that misregulation of Cyfip2 function and its mGluR-induced expression contribute to the neurobehavioral phenotypes of FXS.
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6. Hartley SL, Schultz HM. {{Support Needs of Fathers and Mothers of Children and Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2014.
Little research has examined the support needs of mothers versus fathers of children and adolescents with autism spectrum disorder (ASD). We identified and compared the important and unmet support needs of mothers and fathers, and evaluated their association with family and child factors, within 73 married couples who had a child or adolescent with ASD. Mothers had a higher number of important support needs and higher proportion of important support needs that are unmet than fathers. Multilevel modeling indicated that child age, co-occurring behavior problems, presence of intellectual disability, parent education, and household income were related to support needs. Findings offer insight into the overlapping and unique support needs of mothers and fathers of children and adolescents with ASD.
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7. Hiraishi H, Kikuchi M, Yoshimura Y, Kitagawa S, Hasegawa C, Munesue T, Takesaki N, Ono Y, Takahashi T, Suzuki M, Higashida H, Asada M, Minabe Y. {{Unusual developmental pattern of brain lateralization in young boys with autism spectrum disorder: power analysis with a child-sized MEG}}. {Psychiatry Clin Neurosci}. 2014.
AIMS: Autism spectrum disorder (ASD) is often described as comprising an unusual brain growth pattern and aberrant brain lateralization. Although it is important to study the pathophysiology of the developing ASD cortex, physiological brain lateralization in young children with ASD have yet to be well examined. METHOD: Brain activities during their concentrating on video programs were measured non-invasively in 38 young boys with ASD (3 to 7 years old) and 38 typically developing (TD) young boys (3 to 8 years old). We employed a customized child-sized magnetoencephalography (MEG) system in which the sensors were located as close to the brain as possible for optimal recording in young children. To produce a credible laterality index of the brain oscillations, we defined two clusters of sensors corresponding to the right and left hemispheres. We focused on the laterality index ((left – right) / (left + right)) of the relative power band in seven frequency bands. RESULTS: The TD group displayed significantly rightward lateralized brain oscillations in the theta-1 frequency bands compared to the ASD group. CONCLUSIONS: This is the first study to demonstrate unusual brain lateralization of brain oscillations measured by MEG in young children with ASD.
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8. Lunsky Y, Paquette-Smith M, Weiss JA, Lee J. {{Predictors of emergency service use in adolescents and adults with autism spectrum disorder living with family}}. {Emerg Med J}. 2014.
INTRODUCTION: The use of emergency services among adolescents and adults with autism spectrum disorder (ASD) transitioning into adult health services has not been well described. OBJECTIVES: To describe emergency service use including emergency departments (EDs), paramedics, and police involvement among adolescents and adults with ASD and to examine predictors of using emergency services. METHODS: Caregivers of 396 adolescents and adults with ASD were recruited through autism advocacy agencies and support programmes in Ontario to complete a survey about their child’s health service use. Surveys were completed online, by mail and over the phone between December 2010 and October 2012. Parents were asked to describe their child’s emergency service use and provide information about potential predictive factors including predisposing, enabling and clinical need variables. RESULTS: According to parents, 13% of their children with ASD used at least one emergency service in a 2-month period. Sedation or restraints were used 23% of the time. A combination of need and enabling variables predicted emergency service use with previous ED use in the last year (OR 3.4, 95% CI 1.7 to 6.8), a history of hurting others (OR 2.3, 95% 1.2 CI to 4.7) and having no structured daytime activities (OR 3.2, 95% CI 1.4 to 7.0) being the strongest multivariate predictors in the model. CONCLUSIONS: Patients with ASD and their families are likely to engage with paramedics or police or visit the ED. Further education and support to families and emergency clinicians are needed to improve and, when possible, prevent such occurrences.
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9. Pasalich DS, Dadds MR, Hawes DJ. {{Cognitive and affective empathy in children with conduct problems: additive and interactive effects of callous-unemotional traits and autism spectrum disorders symptoms}}. {Psychiatry Res}. 2014; 219(3): 625-30.
Callous-unemotional (CU) traits and autism spectrum disorders (ASD) symptoms are characterized by problems in empathy; however, these behavioral features are rarely examined together in children with conduct problems. This study investigated additive and interactive effects of CU traits and ASD symptoms in relation to cognitive and affective empathy in a non-ASD clinic-referred sample. Participants were 134 children aged 3 to 9 years (M=5.60; 79% boys) with oppositional defiant/conduct disorder, and their parents. Clinicians, teachers, and parents reported on dimensions of child behavior, and parental reports of family dysfunction and direct observations of parental warmth/responsiveness assessed quality of family relationships. Results from multiple regression analysis showed that, over and above the effects of child conduct problem severity and quality of family relationships, both ASD symptoms and CU traits were uniquely associated with deficits in cognitive empathy. Moreover, CU traits demonstrated an independent association with affective empathy, and this relationship was moderated by ASD symptoms. That is, there was a stronger negative association between CU traits and affective empathy at higher versus lower levels of ASD symptoms. These findings suggest including both CU traits and ASD-related social impairments in models delineating the atypical development of empathy in children with conduct problems.
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10. Perkins TJ, Stokes MA, McGillivray JA, Mussap AJ, Cox IA, Maller JJ, Bittar RG. {{Increased left hemisphere impairment in high-functioning autism: a tract based spatial statistics study}}. {Psychiatry Res}. 2014; 224(2): 119-23.
There is evidence emerging from Diffusion Tensor Imaging (DTI) research that autism spectrum disorders (ASD) are associated with greater impairment in the left hemisphere. Although this has been quantified with volumetric region of interest analyses, it has yet to be tested with white matter integrity analysis. In the present study, tract based spatial statistics was used to contrast white matter integrity of 12 participants with high-functioning autism or Aspergers syndrome (HFA/AS) with 12 typically developing individuals. Fractional Anisotropy (FA) was examined, in addition to axial, radial and mean diffusivity (AD, RD and MD). In the left hemisphere, participants with HFA/AS demonstrated significantly reduced FA in predominantly thalamic and fronto-parietal pathways and increased RD. Symmetry analyses confirmed that in the HFA/AS group, WM disturbance was significantly greater in the left compared to right hemisphere. These findings contribute to a growing body of literature suggestive of reduced FA in ASD, and provide preliminary evidence for RD impairments in the left hemisphere.
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11. Pieron M, Seassau M, Leboyer M, Zalla T. {{Accelerated time course of saccadic inhibition of return in individuals with autism spectrum disorders}}. {Exp Brain Res}. 2014.
The inhibition of return (IOR) refers the observer’s slower response time when the target stimulus appears on the previously attended location. In the present study, we examined the time course of saccadic IOR by using five stimuli onset asynchronies (SOAs) in a group of adults with autism spectrum disorders (ASDs) and a comparison group. The results showed that the IOR effect occurred earlier (300 ms SOA) in participants with ASDs, relative to the comparison participants (500 and 700 ms SOAs). The ASD group also committed a greater number of anticipatory saccades, which positively correlated with scores on restricted and repetitive behaviors, as assessed by the Autism Diagnostic Interview-Revised (ADI-R; Lord et al. in J Autism Dev Disord 24:659-685, 1994). These findings reveal an accelerated time course for saccadic IOR along with diminished volitional oculomotor control in participants with ASDs. We discussed these results with reference to the atypical and the superior visual search abilities often reported in this population.
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12. Robic S, Sonie S, Fonlupt P, Henaff MA, Touil N, Coricelli G, Mattout J, Schmitz C. {{Decision-Making in a Changing World: A Study in Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2014.
To learn to deal with the unexpected is essential to adaptation to a social, therefore often unpredictable environment. Fourteen adults with autism spectrum disorders (ASD) and 15 controls underwent a decision-making task aimed at investigating the influence of either a social or a non-social environment, and its interaction with either a stable (with constant probabilities) or an unstable (with changing probabilities) context on their performance. Participants with ASD presented with difficulties in accessing underlying statistical rules in an unstable context, a deficit especially enhanced in the social environment. These results point out that the difficulties people with ASD encounter in their social life might be caused by impaired social cues processing and by the unpredictability associated with the social world.
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13. Rosen BN, Lee BK, Lee NL, Yang Y, Burstyn I. {{Maternal Smoking and Autism Spectrum Disorder: A Meta-analysis}}. {J Autism Dev Disord}. 2014.
We conducted a meta-analysis of 15 studies on maternal prenatal smoking and ASD risk in offspring. Using a random-effects model, we found no evidence of an association (summary OR 1.02, 95 % CI 0.93-1.12). Stratifying by study design, birth year, type of healthcare system, and adjustment for socioeconomic status or psychiatric history did not alter the findings. There was evidence that ascertaining exposure at the time of birth produced a lower summary OR than when this information was gathered after birth. There was no evidence of publication bias. Non-differential exposure misclassification was shown to have the potential for negligible influence on the results. We found no evidence to support a measurable association between maternal prenatal smoking and ASD in offspring.
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14. Volkmar FR. {{The Puberty Video for Boys with Asperger Syndrome (and Autism Spectrum Disorder: Level 1) DVD $25.00, 48 Minutes and Managing Puberty, Social Challenges, and (Almost) Everything: A Video Guide for Girls: DVD, $25.00, 80 Minutes; Coulter Video (Erreur ! Référence de lien hypertexte non valide.. {J Autism Dev Disord}. 2014.
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15. Woodbury-Smith M, Paterson AD, Thiruvahindrapduram B, Lionel AC, Marshall CR, Merico D, Fernandez BA, Duku E, Sutcliffe JS, O’Conner I, Chrysler C, Thompson A, Kellam B, Tammimies K, Walker S, Yuen RK, Uddin M, Howe JL, Parlier M, Whitten K, Szatmari P, Vieland VJ, Piven J, Scherer SW. {{Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes}}. {Hum Genet}. 2014.
Copy number variation has emerged as an important cause of phenotypic variation, particularly in relation to some complex disorders. Autism spectrum disorder (ASD) is one such disorder, in which evidence is emerging for an etiological role for some rare penetrant de novo and rare inherited copy number variants (CNVs). De novo variation, however, does not always explain the familial nature of ASD, leaving a gap in our knowledge concerning the heritable genetic causes of this disorder. Extended pedigrees, in which several members have ASD, provide an opportunity to investigate inherited genetic risk factors. In this current study, we recruited 19 extended ASD pedigrees, and, using the Illumina HumanOmni2.5 BeadChip, conducted genome-wide CNV interrogation. We found no definitive evidence of an etiological role for segregating CNVs in these pedigrees, and no evidence that linkage signals in these pedigrees are explained by segregating CNVs. However, a small number of putative de novo variants were transmitted from BAP parents to their ASD offspring, and evidence emerged for a rare duplication CNV at 11p13.3 harboring two putative ‘developmental/neuropsychiatric’ susceptibility gene(s), GSTP1 and NDUFV1.
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16. Zhang QB, Gao SJ, Zhao HX. {{Thioredoxin: A novel, independent diagnosis marker in children with autism}}. {Int J Dev Neurosci}. 2014.
BACKGROUND: Oxidative stress increases serum thioredoxin (TRX), a redox-regulating protein with antioxidant activity recognized as an oxidative-stress marker. The aim of this study was to assess the clinical significance of serum TRX levels in Autism spectrum disorders (ASD). METHODS: Eighty patients diagnosed with ASD and 100 sex and age matched typically developing children were assessed for serum TRX content at admission. TRX were assayed with solid-phase sandwich ELISA, and severity of ASD was evaluated with the Childhood Autism Rating Scale (CARS) Score. RESULTS: The results indicated that the median serum TRX levels were significantly (P<0.0001) higher in children with ASD as compared to typically developing children [17.9(IQR: 10.7-25.8)ng/ml and 5.5(3.6-9.2)ng/ml, respectively]. Levels of TRX increased with increasing severity of ASD as defined by the CARS score. After adjusting for all other possible covariates, TRX still was an independent diagnosis marker of ASD with an adjusted OR of 1.454 (95% CI, 1.232-1.892; P<0.0001). Based on the receiver operating characteristic (ROC) curve, the optimal cut-off value of serum TRX levels as an indicator for auxiliary diagnosis of autism was projected to be 10.6ng/ml. Further, we found that an increased diagnosis of ASD was associated with TRX levels >/=10.6ng/ml (adjusted OR 15.31, 95% CI: 7.36-31.85) after adjusting for possible confounders. CONCLUSIONS: Our study demonstrated that serum TRX levels were associated with ASD, and elevated levels could be considered as a novel, independent diagnosis indicator of ASD.
