1. Barron-Linnankoski S, Reinvall O, Lahervuori A, Voutilainen A, Lahti-Nuuttila P, Korkman M. {{Neurocognitive performance of children with higher functioning Autism Spectrum disorders on the NEPSY-II}}. {Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence}. 2014 Jan 8.
This study examined patterns of strengths and weaknesses in the neurocognitive performance of children with higher functioning autism spectrum disorder (ASD). The participants were 30 children with higher functioning ASD ranging from 6 to 11 years, and 60 typically developing (TD) children, who were matched with the children with higher functioning ASD in terms of age, gender, and maternal education. The TD children were drawn from the Finnish standardization sample for the NEPSY-II. The cognitive abilities of the children with higher functioning ASD were assessed with the WISC-III, and the neurocognitive performance of the children with higher functioning ASD and TD children on the NEPSY-II was compared. The children with higher functioning ASD were found to have strengths in verbal reasoning skills with respect to the population mean and weaknesses in set-shifting, verbal fluency, and narrative memory in comparison with the TD children. Minor weaknesses were also observed in facial memory and fine and visuomotor skills.
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2. Benvenuto A, Battan B, Benassi F, Gialloreti LE, Curatolo P. {{Effectiveness of community-based treatment on clinical outcome in children with autism spectrum disorders: An Italian prospective study}}. {Developmental neurorehabilitation}. 2014 Jan 6.
Abstract Objective: Little is known about outcomes of Autism Spectrum Disorders (ASDs) interventions in real-life settings. The main aim of this naturalistic study was to collect real-life data on the actual ASDs treatment practices in Italy. Methods: A cohort of 48 children undergoing community-based interventions was observed in terms of personal and environmental characteristics, treatment typology and outcomes. Results: An earlier start of treatment was associated with an improvement of autistic symptoms, independently from symptoms severity (p < 0.05), but not with improvements in terms of intelligence quotient (p = 0.8). Children belonging to lower socioeconomic status families began treatment later (48.0 months) than those belonging to middle (39.8 months) or upper (39.2 months) classes (p < 0.05), and received less hours of treatment. Conclusion: The study showed that ASDs interventions should be observed not only in experimental settings, but also in naturalistic environments, so to appraise the actual effectiveness of integrating different treatment methods in community settings.
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3. Brandenburg-Goddard MN, Rijn SV, Rombouts SA, Veer IM, Swaab H. {{A comparison of neural correlates underlying social cognition in Klinefelter syndrome and autism}}. {Social cognitive and affective neuroscience}. 2014 Jan 5.
Klinefelter Syndrome (KS) is a genetic syndrome characterized by the presence of an extra X chromosome that appears to increase the risk of psychopathology, such as autism symptoms. The current study used functional MRI to determine underlying mechanisms related to this risk, with the aim of gaining insight into neural mechanisms behind social-cognitive dysfunction in KS and autism, and understanding similarities and differences in social information processing deficits. Fourteen boys with KS, seventeen boys with autism spectrum disorders (ASD) and nineteen non-clinical male controls aged 10-18 were scanned while matching and labeling facial expressions (i.e. face processing and affect labeling, respectively). No group differences in neural activation were found during face processing. However, during affect labeling the ASD group showed increased activation in the amygdala compared to controls, while the KS group showed increased activation in frontal areas compared to both controls and the ASD group. No group differences in task performance were found. Although behavioral symptoms of social dysfunction appear similar both in boys with KS and ASD, this is the first study to demonstrate different underlying etiologies. These results may aid in identifying different pathways to autism symptoms, which may help understanding variability within the ASD spectrum.
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4. Chevallier C, Parish-Morris J, Tonge N, Le L, Miller J, Schultz RT. {{Susceptibility to the Audience Effect Explains Performance Gap Between Children With and Without Autism in a Theory of Mind Task}}. {Journal of experimental psychology General}. 2014 Jan 6.
Diminished social motivation constitutes one of the core impairments of autism spectrum disorder (ASD) and is thought to have a strong impact on the way individuals with autism respond to the presence of others. In this study, we hypothesized that experimental contexts involving direct interaction with an experimenter might elicit different reactions in children with ASD and thus act as a potential confound in the interpretation of group differences during social cognitive tests. Following classic work in social psychology on the audience effect-wherein individuals act differently when they are being watched in a more or less conscious attempt to enhance their reputation in the eyes of others-we reasoned that social contexts are indeed likely to produce an increase in performance in typically developing (TD) individuals but that children with ASD would be less susceptible to such audience effects. More specifically, we were interested in testing the idea that susceptibility to the audience effect might explain part of the performance gap between children with autism (ASDs) and children without autism in theory of mind (ToM) tasks, which are typically administered by a human experimenter. We tested this hypothesis by comparing performance on a ToM task administered in a social versus a nonsocial setting. We found that ASDs and controls performed similarly when the task was administered using a nonsocial medium. However, control participants outperformed ASDs when an experimenter administered the task. Thus, TD controls demonstrated a relative improvement in performance when in the presence of an experimenter that children with ASD did not. The implications of this diminished audience effect in ASD are discussed. (PsycINFO Database Record (c) 2014 APA, all rights reserved).
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5. Couper L, van der Meer L, Schafer MC, McKenzie E, McLay L, O’Reilly MF, Lancioni GE, Marschik PB, Sigafoos J, Sutherland D. {{Comparing acquisition of and preference for manual signs, picture exchange, and speech-generating devices in nine children with autism spectrum disorder}}. {Developmental neurorehabilitation}. 2014 Jan 6.
Abstract Objective: To compare how quickly children with autism spectrum disorder (ASD) acquired manual signs, picture exchange, and an iPad(R)/iPod(R)-based speech-generating device (SGD) and to compare if children showed a preference for one of these options. Method: Nine children with ASD and limited communication skills received intervention to teach requesting preferred stimuli using manual signs, picture exchange, and a SGD. Intervention was evaluated in a non-concurrent multiple-baseline across participants and alternating treatments design. Results: Five children learned all three systems to criterion. Four children required fewer sessions to learn the SGD compared to manual signs and picture exchange. Eight children demonstrated a preference for the SGD. Conclusion: The results support previous studies that demonstrate children with ASD can learn manual signs, picture exchange, and an iPad(R)/iPod(R)-based SGD to request preferred stimuli. Most children showed a preference for the SGD. For some children, acquisition may be quicker when learning a preferred option.
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6. Egawa J, Watanabe Y, Endo T, Kitamura H, Someya T. {{Possible association between the oxytocin receptor gene and N-acetylaspartate of the right medial temporal lobe in autism spectrum disorders}}. {Psychiatry and clinical neurosciences}. 2014 Jan;68(1):83.
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7. Gong ZL, Luo CM, Wang L, Shen L, Wei F, Tong RJ, Liu Y. {{Serum 25-hydroxyvitamin D levels in Chinese children with autism spectrum disorders}}. {Neuroreport}. 2014 Jan 8;25(1):23-7.
In recent years, increasing evidence has shown that children with autism spectrum disorders (ASDs) have lower levels of 25-hydroxyvitamin D [25(OH) D] relative to healthy controls. The purpose of this study was to evaluate the serum 25(OH) D levels in Chinese children with ASD. From January 2012 to December 2012, consecutive patients with ASD admitted to the Department of Neurology were identified. Clinical information was collected. Serum levels of 25(OH) D were measured at baseline. ASD severity was assessed at admission using the Childhood Autism Rating Scale total score. The results indicated that the mean serum 25(OH) D levels were significantly lower in autistic children as compared with normal cases (P=0.002). There was a significant negative relationship between circulating serum 25(OH) D levels and the severity of autism evaluated according to Childhood Autism Rating Scale Scores (P=0.000), after adjustment for the possible covariates such as age, sex, BMI, serum levels of calcium, phosphate, and magnesium, and seasons. After adjusting for all other possible covariates, 25(OH) D levels that remained can be seen as an independent predictor of ASD with an adjusted odds ratio of 1.23 (95% confidence interval, 1.10-1.37). These results indicate that lower 25(OH) D levels may be independently associated with severity of ASD among Chinese patients, and lower serum 25(OH) D levels could be considered as an independent risk factor for ASD.
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8. Hamlin JC, Pauly M, Melnyk S, Pavliv O, Starrett W, Crook TA, James SJ. {{Dietary intake and plasma levels of choline and betaine in children with autism spectrum disorders}}. {Autism research and treatment}. 2013;2013:578429.
Abnormalities in folate-dependent one-carbon metabolism have been reported in many children with autism. Because inadequate choline and betaine can negatively affect folate metabolism and in turn downstream methylation and antioxidant capacity, we sought to determine whether dietary intake of choline and betaine in children with autism was adequate to meet nutritional needs based on national recommendations. Three-day food records were analyzed for 288 children with autism (ASDs) who participated in the national Autism Intervention Research Network for Physical Health (AIR-P) Study on Diet and Nutrition in children with autism. Plasma concentrations of choline and betaine were measured in a subgroup of 35 children with ASDs and 32 age-matched control children. The results indicated that 60-93% of children with ASDs were consuming less than the recommended Adequate Intake (AI) for choline. Strong positive correlations were found between dietary intake and plasma concentrations of choline and betaine in autistic children as well as lower plasma concentrations compared to the control group. We conclude that choline and betaine intake is inadequate in a significant subgroup of children with ASDs and is reflected in lower plasma levels. Inadequate intake of choline and betaine may contribute to the metabolic abnormalities observed in many children with autism and warrants attention in nutritional counseling.
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9. Shao S, Xu S, Yang J, Zhang T, He Z, Sun Z, Song R. {{A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population}}. {Molecular biology reports}. 2014 Jan 8.
Autism spectrum disorder (ASD) is one of neurodevelopmental disorders with highly heritability. Recently, abnormality at the synapse is found to be important etiology of ASD. SHANK3 gene is suggested as a strong candidate gene for the pathogenesis of ASD, because it is essential for normally synaptic structure and function. We performed a case-control study to identify association between rs9616915 of the SHANK3 gene and ASD in a Chinese population. Genomic DNA was extracted from oral swabs samples of 212 patients and 636 controls and the SNP genotypes were determined by a polymerase chain reaction-restriction fragment length polymerase assay. Significant difference in genotype distribution of rs9616915 was observed between cases and controls by Pearson’s chi 2 test (chi 2 = 6.92, P = 0.031). Genetic analysis of heterozygous model, dominant model and additive model showed an association of the C allele of the rs9616915 with ASD (e.g., additive model, OR 0.582, 95 % CI 0.359-0.942, P = 0.028). In conclusion, our results suggested that this commonly genetic variant in SHANK3 gene strikingly decreased the risk of ASD in China.
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10. Tan XY, Trembath D, Bloomberg K, Iacono T, Caithness T. {{Acquisition and generalization of key word signing by three children with autism}}. {Developmental neurorehabilitation}. 2014 Jan 6.
Abstract Objective: The aim of this study was to examine the effect of Key Word Sign (KWS) intervention on the acquisition and generalization of manual signing among three children with Autism Spectrum Disorder (ASD), and to measure any changes in their production of spoken words and gestures following intervention. Methods: A multiple baseline single-case experimental design was used to measure changes for each of the three children. Results: All three children began using signs following the introduction of the KWS intervention, and generalized their use of some signs across activities. The introduction of the intervention was associated with either neutral, or statistically significantly positive, changes in the children’s production of spoken words and natural gestures. Conclusion: The results provide preliminary evidence for the effectiveness of KWS for preschool children with ASD, which parents, therapists, and educators can use to inform clinical practice.
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11. Tassone F. {{Newborn Screening for Fragile X Syndrome}}. {JAMA neurology}. 2014 Jan 6.
Fragile X syndrome (FXS), caused by a trinucleotide expansion (>200 CGG repeats) in the fragile X mental retardation gene (FMR1), is currently not included in newborn screening (NBS) panels in the United States as it does not meet the standards for recommendation. Although in the past few years FXS has met many of the criteria for population screening and studies have shown that NBS for FXS is feasible, the idea is still controversial and the debate is open. The recent advances in genomic testing as well as groundbreaking advances in targeted treatment for FXS have been challenging the dogma and principle of the national NBS program: screen only if you can intervene. Arguments in favor of NBS include benefits of early intervention and follow-up for the identified baby, which would justify NBS even in the absence of medical benefit to the child. In addition, the extended family members may benefit from genetic and reproductive counseling, informed decision making before a subsequent pregnancy, and access to treatment and services. However, communicating the results and the potential consequences to families is a challenge and could lead to a heavy psychosocial burden. A controversial issue is the identification of premutation carriers (55-200 CGG repeats), because it not only can lead to information on the reproductive possibility of having a child with FXS but also leads to information about personal health risks associated with the premutation. Yet, knowledge of carrier status could stimulate and encourage lifestyle changes and preventive measures likely to reduce the risk of medical problems reported in premutation carriers. If NBS for FXS is developed, it must be carried out with clear awareness of the potential impact on the lives of the children, and it should be done after counseling and parents’ informed consent. Importantly, the infrastructure to support testing, counseling, treatment, and follow-up will have to be made available to the families.
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12. Toloe J, Mollajew R, Kugler S, Mironov SL. {{Metabolic differences in hippocampal ‘Rett’ neurons revealed by ATP imaging}}. {Molecular and cellular neurosciences}. 2014 Jan 3.
Understanding metabolic control of neuronal function requires detailed knowledge of ATP handling in living neurons. We imaged ATP in organotypic hippocampal slices using genetically encoded sensor Ateam 1.03 modified to selectively transduce neurons in the tissue. ATP imaging indicated distinct differences in ATP production and consumption in dentate gyrus and CA areas. Removal of extracellular Mg2+ from the bath evoked epileptiform-like activity that was accompanied by ATP decline from 2-3 to 1-2mM. The slices fully recovered from treatment and showed persistent spontaneous activity. Neuronal discharges were followed by transient ATP changes and periodic activation of ATP-sensitive K+ (K-ATP) channels. The biggest ATP decreases during epileptiform-like episodes of activity were observed in CA1 and CA3 neurons. Examination of neurons from the Rett model mice MeCP2-/y showed that seizure-like activity had earlier onset and subsequent spontaneous activity demonstrated more frequent discharges. Hippocampal MeCP2-/y neurons had higher resting ATP levels and showed bigger ATP decreases during epileptiform-like activity. More intense ATP turnover in MeCP2-/y neurons may result from necessity to maintain hippocampal function in Rett Syndrome. Elevated ATP may make, in turn, Rett hippocampus more prone to epilepsy due to inadequate activity of K-ATP channels.
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13. Velloso Rde L, Duarte CP, Schwartzman JS. {{Evaluation of the theory of mind in autism spectrum disorders with the Strange Stories test}}. {Arquivos de neuro-psiquiatria}. 2013 Nov;71(11):871-6.
Objective To evaluate the theory of mind in autism spectrum disorders (ASD) and control individuals by applying the Strange Stories test that was translated and adapted to the Portuguese language. Method Twenty-eight children with ASD and 56 controls who were all male and aged between 6 and 12 years participated in the study. Results There were significant differences between the median scores of the groups for each of the 12 stories of the test and for the sum total of all the median scores. The median scores for all stories were significantly greater in the control group than those in the experimental group (children with ASD). In addition, the protocol had excellent internal consistency. Conclusion The theory of mind skills assessed with the Strange Stories test indicated alterations in children with ASD compared with children in the control group.
