1. Anzures G, Goyet L, Ganea N, Johnson MH. {{Enhanced ERPs to visual stimuli in unaffected male siblings of ASD children}}. {Child Neuropsychol}. 2014: 1-18.
Autism spectrum disorders are characterized by deficits in social and communication abilities. While unaffected relatives lack severe deficits, milder impairments have been reported in some first-degree relatives. The present study sought to verify whether mild deficits in face perception are evident among the unaffected younger siblings of children with ASD. Children between 6-9 years of age completed a face-recognition task and a passive viewing ERP task with face and house stimuli. Sixteen children were typically developing with no family history of ASD, and 17 were unaffected children with an older sibling with ASD. Findings indicate that, while unaffected siblings are comparable to controls in their face-recognition abilities, unaffected male siblings in particular show relatively enhanced P100 and P100-N170 peak-to-peak amplitude responses to faces and houses. Enhanced ERPs among unaffected male siblings is discussed in relation to potential differences in neural network recruitment during visual and face processing.
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2. Bejerot S, Eriksson JM, Mortberg E. {{Social anxiety in adult autism spectrum disorder}}. {Psychiatry Res}. 2014; 220(1-2): 705-7.
A link has been suggested between Autism Spectrum Disorder (ASD) and anxiety disorders. The aim of the study was to examine the severity of social anxiety measured by the Liebowitz Social Anxiety Scale Self-Report and prevalence of Social Anxiety Disorder (SAD) in adults with ASD, with SAD and a non-ASD comparison group. Individuals with ASD showed significantly higher scores of social anxiety and social avoidance relative to the comparison group, but significantly lower scores relative to the SAD sample.
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3. Downs J, Leonard H, Jacoby P, Brisco L, Baikie G, Hill K. {{Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders}}. {Disabil Rehabil}. 2014: 1-5.
Abstract Background: Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome. Methods: Twenty-six participants (mean 18 years, SD 8) wore an Actigraph, ActivPAL and StepWatch Activity Monitor (SAM) during a video-taped session of activities. Agreement was determined between step-counts derived from each accelerometer and observation. Repeatability of SAM-derived step counts was determined using pairs of one-minute epochs during which the same participant was observed to walk with the same cadence. Results: The mean difference (limit of agreement) for the Actigraph, ActivPAL and SAM were -41 (SD 33), -16 (SD 21) and -1 (SD 16) steps/min, respectively. Agreement was influenced by a device/cadence interaction (p < 0.001) with greater under-recording at higher cadences. For SAM data, repeatability of step-count pairs was excellent (intraclass correlation coefficient 0.91, 95% CI 0.79-0.96). The standard error of measurement was 6 steps/min and we would be 95% confident that a change >/=17 steps/min would be greater than within-subject measurement error. Conclusions: The capacity of the SAM to measure physical activity in Rett syndrome allows focus on participation-based activities in clinical practice and clinical trials. Implications for Rehabilitation Many girls and women with Rett syndrome are able to walk on their own or with assistance but with altered movement patterns. Validated measures of physical activity, such as step counts, have potential to monitor function during daily life. Compared with other forms of accelerometer-type devices, such as ActiGraph and ActivPAL, the StepWatch Activity Monitor (SAM) measured step counts with good accuracy and repeatability. The capacity of the SAM to measure physical activity in Rett syndrome allows focus on participation-based activities in clinical practice and clinical trials.
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4. Duan G, Yao M, Ma Y, Zhang W. {{Perinatal and background risk factors for childhood autism in central China}}. {Psychiatry Res}. 2014; 220(1-2): 410-7.
Perinatal and background risk factors for autism were identified in a cohort of autistic children in Zhengzhou, China, to formulate preventative and treatment strategies for high-risk families. In this case-control study, children were screened for suspected autism using the Autism Behavior Checklist (ABC) and diagnosed according to DSM-IV and the Childhood Autism Rating Scale (CARS). We collected perinatal histories and clinical data of 286 confirmed autistic children treated at the Third Affiliated Hospital Childrens Psychological Clinic of Zhengzhou University from 2011 to 2013. The control group consisted of 286 healthy children from area kindergartens. Maternal age>30 years, parental introversion as measured by the Eysenck Personality Questionnaire, low level of parental education, smoking, abortion threat, pregnancy complications, maternal illness during pregnancy, maternal mental health, family history of mental illness, neonatal jaundice, birth asphyxia, premature rupture of the fetal membrane, and gestational age<37 weeks were significantly higher in the autism group. These factors were significantly correlated with behavioral symptoms as measured by ABC scores (Kendall rank correlation). Birth asphyxia, neonatal jaundice, maternal age, parental introversion, family history of mental illness, abortion threat, premature delivery, and smoking were identified as independent risk factors by multivariate logistic regression.
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5. Erviti M, Semal C, Wright BA, Amestoy A, Bouvard MP, Demany L. {{A Late-Emerging Auditory Deficit in Autism}}. {Neuropsychology}. 2014.
Objective: Individuals with autism spectrum disorders (ASD) show enhanced perceptual and memory abilities in the domain of pitch, but also perceptual deficits in other auditory domains. The present study investigated their skills with respect to « echoic memory, » a form of short-term sensory memory intimately tied to auditory perception, using a developmental perspective. Method: We tested 23 high-functioning participants with ASD and 26 typically developing (TD) participants, distributed in two age groups (children vs. young adults; mean ages: approximately 11 and approximately 21 years). By means of an adaptive psychophysical procedure, we measured the longest period for which periodic (i.e., repeated) noise could be reliably discriminated from nonperiodic (i.e., plain random) noise. On each experimental trial, a single noise sample was presented to the participant, who had to classify this sound as periodic or nonperiodic. Results: The TD adults performed, on average, much better than the other three groups, who performed similarly overall. As a function of practice, the measured thresholds improved for the TD participants, but did not change for the ASD participants. Thresholds were not correlated to performance in a test assessing verbal memory. The variance of the participants’ response biases was larger among the ASD participants than among the TD participants. Conclusion: The results mainly suggest that echoic memory takes a long time to fully develop in TD humans, and that this development stops prematurely in persons with ASD. (PsycINFO Database Record (c) 2014 APA, all rights reserved).
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6. Ferraro FR. {{No evidence of reaction time slowing in autism spectrum disorder}}. {Autism}. 2014.
A total of 32 studies comprising 238 simple reaction time and choice reaction time conditions were examined in individuals with autism spectrum disorder (n = 964) and controls (n = 1032). A Brinley plot/multiple regression analysis was performed on mean reaction times, regressing autism spectrum disorder performance onto the control performance as a way to examine any generalized simple reaction time/choice reaction time slowing exhibited by the autism spectrum disorder group. The resulting regression equation was Y (autism spectrum disorder) = 0.99 x (control) + 87.93, which accounted for 92.3% of the variance. These results suggest that there are little if any simple reaction time/choice reaction time slowing in this sample of individual with autism spectrum disorder, in comparison with controls. While many cognitive and information processing domains are compromised in autism spectrum disorder, it appears that simple reaction time/choice reaction time remain relatively unaffected in autism spectrum disorder.
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7. Happel CM, Laser KT, Sigler M, Kececioglu D, Sandica E, Haas NA. {{Single center experience: Implantation failures, early and late complications after implantation of a partially biodegradable ASD/PFO-device (BioStar(R))}}. {Catheter Cardiovasc Interv}. 2014.
Introduction: In the search for a biodegradable device that leaves nothing but the tissue of the patient after complete endotheliazation and absorption, the BioSTAR(R) device was introduced in 2007 (CE Mark in European community and HPB in Canada) for ASD and PFO closure. It consists of a metal framework covered by a biodegradable membrane generated from a layer of porcine collagen that is broken down and absorbed over time. In a sheep model the results were promising, showing complete closure of the defect with degradation of approximately 90% of the implanted membrane material after two years. Methods: We report a retrospective analysis of implantation failures, early and late complications in a series of 34 patients with 30 implanted BioStar(R) devices in a single center with a total follow-up of more than 75 patient years. Results: We report 12% of implantation failures, 9% of early and 12% of late complications. Implantation failures include one embolized device, which was interventionally retrieved. Early complications were exclusively rhythm disturbances, one patient needed electrical and pharmacological therapy. Four relevant late complications occurred. One device required explantation after 61 days because of recurrent severe fever episodes, severe headache and malaise that subsequently subsided after device removal. One patient presented with Dressler’s syndrome with pericardial effusion 5 month after implantation requiring pericardiocentesis and steroid treatment. One device showed a central residual shunt that was not clearly seen initially. Finally one device was explanted after hemorrhagic pericardial effusion due to perforation of an arm of the frame through the right atrial roof into the pericardial fold after 19 month. Conclusion: We conclude that implantation of the Biostar(R) device is difficult in patients with deficient aortic rims and early complications are similar to those seen in other devices. Of importance the late complications seen with the Biostar(R) device might be attributable to specific material and immunological properties of the partially biodegradable device. Although a biodegradable device might theoretically be more favorable more efforts for optimization of these devices have to be taken. This article is protected by copyright. All rights reserved.
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8. Jia F, Wang B, Shan L, Xu Z, Staal WG, Du L. {{Core Symptoms of Autism Improved After Vitamin D Supplementation}}. {Pediatrics}. 2014.
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder caused by a complex interaction between genetic and environmental risk factors. Among the environmental factors, vitamin D3 (cholecaliferol) seems to play a significant role in the etiology of ASD because this vitamin is important for brain development. Lower concentrations of vitamin D3 may lead to increased brain size, altered brain shape, and enlarged ventricles, which have been observed in patients with ASD. Vitamin D3 is converted into 25-hydroxyvitamin D3 in the liver. Higher serum concentrations of this steroid may reduce the risk of autism. Importantly, children with ASD are at an increased risk of vitamin D deficiency, possibly due to environmental factors. It has also been suggested that vitamin D3 deficiency may cause ASD symptoms. Here, we report on a 32-month-old boy with ASD and vitamin D3 deficiency. His core symptoms of autism improved significantly after vitamin D3 supplementation. This case suggests that vitamin D3 may play an important role in the etiology of ASD, stressing the importance of clinical assessment of vitamin D3 deficiency and the need for vitamin D3 supplementation in case of deficiency.
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9. Kumari D, Usdin K. {{Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription}}. {Hum Mol Genet}. 2014; 23(24): 6575-83.
The FMR1 gene is subject to repeat mediated-gene silencing when the CGG-repeat tract in the 5′ UTR exceeds 200 repeat units. This results in Fragile X syndrome, the most common heritable cause of intellectual disability and a major cause of autism spectrum disorders. The mechanism of gene silencing is not fully understood, and efforts to reverse this gene silencing have had limited success. Here, we show that the level of trimethylation of histone H3 on lysine 27, a hallmark of the activity of EZH2, a component of repressive Polycomb Group (PcG) complexes like PRC2, is increased on reactivation of the silenced allele by either the DNA demethylating agent 5-azadeoxycytidine or the SIRT1 inhibitor splitomicin. The level of H3K27me3 increases and decreases in parallel with the FMR1 mRNA level. Furthermore, reducing the levels of the FMR1 mRNA reduces the accumulation of H3K27me3. This suggests a model for FMR1 gene silencing in which the FMR1 mRNA generated from the reactivated allele acts in cis to repress its own transcription via the recruitment of PcG complexes to the FMR1 locus.
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10. Sasaki M. {{SPECT findings in autism spectrum disorders and medically refractory seizures}}. {Epilepsy Behav}. 2014.
A high rate of seizures and electroencephalogram abnormalities has been noted in individuals with autism spectrum disorders (ASDs). Common underlying neurodevelopmental abnormalities may exist in the brains of individuals with both ASDs and epilepsy. Single-photon emission computed tomography (SPECT) studies of the brain have provided sensitive brain function findings. Such studies often reveal not only localized areas of hyperperfusion, which could be related to the seizure-onset zone, but also localized areas of hypoperfusion that may correlate with the focal reductions in function observed in the prefrontal lobes, cingulate gyrus, superior temporal gyrus, and mesial temporal lobes of many individuals with both ASDs and epilepsy. The focal neuronal dysfunction revealed by SPECT could be caused by aberrant neuronal connectivity. This article is part of a Special Issue entitled « Autism and Epilepsy ».
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11. Shimamoto C, Ohnishi T, Maekawa M, Watanabe A, Ohba H, Arai R, Iwayama Y, Hisano Y, Toyota T, Toyoshima M, Suzuki K, Shirayama Y, Nakamura K, Mori N, Owada Y, Kobayashi T, Yoshikawa T. {{Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies}}. {Hum Mol Genet}. 2014; 23(24): 6495-511.
Disturbances of lipid metabolism have been implicated in psychiatric illnesses. We previously reported an association between the gene for fatty acid binding protein 7 (FABP7) and schizophrenia. Furthermore, we identified and reported several rare non-synonymous polymorphisms of the brain-expressed genes FABP3, FABP5 and FABP7 from schizophrenia and autism spectrum disorder (ASD), diseases known to part share genetic architecture. Here, we conducted further studies to better understand the contribution these genes make to the pathogenesis of schizophrenia and ASD. In postmortem brains, we detected altered mRNA expression levels of FABP5 in schizophrenia, and of FABP7 in ASD and altered FABP5 in peripheral lymphocytes. Using a patient cohort, comprehensive mutation screening identified six missense and two frameshift variants from the three FABP genes. The two frameshift proteins, FABP3 E132fs and FABP7 N80fs, formed cellular aggregates and were unstable when expressed in cultured cells. The four missense mutants with predicted possible damaging outcomes showed no changes in intracellular localization. Examining ligand binding properties, FABP7 S86G and FABP7 V126L lost their preference for docosahexaenoic acid to linoleic acid. Finally, mice deficient in Fabp3, Fabp5 and Fabp7 were evaluated in a systematic behavioral test battery. The Fabp3 knockout (KO) mice showed decreased social memory and novelty seeking, and Fabp7 KO mice displayed hyperactive and anxiety-related phenotypes, while Fabp5 KO mice showed no apparent phenotypes. In conclusion, disturbances in brain-expressed FABPs could represent an underlying disease mechanism in a proportion of schizophrenia and ASD sufferers.
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12. Yasui DH, Gonzales ML, Aflatooni JO, Crary FK, Hu DJ, Gavino BJ, Golub MS, Vincent JB, Schanen NC, Olson CO, Rastegar M, Lasalle JM. {{Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome}}. {Hum Mol Genet}. 2014; 23(24): 6695.
