1. Evers K, Kerkhof I, Steyaert J, Noens I, Wagemans J. {{No differences in emotion recognition strategies in children with autism spectrum disorder: evidence from hybrid faces}}. {Autism Res Treat};2014;2014:345878.
Emotion recognition problems are frequently reported in individuals with an autism spectrum disorder (ASD). However, this research area is characterized by inconsistent findings, with atypical emotion processing strategies possibly contributing to existing contradictions. In addition, an attenuated saliency of the eyes region is often demonstrated in ASD during face identity processing. We wanted to compare reliance on mouth versus eyes information in children with and without ASD, using hybrid facial expressions. A group of six-to-eight-year-old boys with ASD and an age- and intelligence-matched typically developing (TD) group without intellectual disability performed an emotion labelling task with hybrid facial expressions. Five static expressions were used: one neutral expression and four emotional expressions, namely, anger, fear, happiness, and sadness. Hybrid faces were created, consisting of an emotional face half (upper or lower face region) with the other face half showing a neutral expression. Results showed no emotion recognition problem in ASD. Moreover, we provided evidence for the existence of top- and bottom-emotions in children: correct identification of expressions mainly depends on information in the eyes (so-called top-emotions: happiness) or in the mouth region (so-called bottom-emotions: sadness, anger, and fear). No stronger reliance on mouth information was found in children with ASD.
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2. Freilinger M, Bohm M, Lanator I, Vergesslich-Rothschild K, Huber WD, Anderson A, Wong K, Baikie G, Ravikumara M, Downs J, Leonard H. {{Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome}}. {Dev Med Child Neurol};2014 (Feb 15)
AIM: This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease. METHOD: The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively. Gallbladder function in 25 females (mean age 16y 5mo, SD 20y 7mo, range 3y 5mo-47y 10mo) with Rett syndrome (RTT) was evaluated with clinical assessment and ultrasound of the gallbladder. The Delphi technique was used to develop assessment and treatment recommendations. RESULTS: The incidence rate for cholelithiasis and/or cholecystectomy was 2.3 (95% confidence interval [CI] 1.1-4.2) and 1.8 (95% CI 1.0-3.0) per 1000 person-years in the Australian and International Databases respectively. The mean contractility index of the gallbladder for the clinical sample was 46.5% (SD 38.3%), smaller than for healthy individuals but similar to children with Down syndrome, despite no clinical symptoms. After excluding gastroesophageal reflux, gallbladder disease should be considered as a cause of abdominal pain in RTT and cholecystectomy recommended if symptomatic. INTERPRETATION: Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.
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3. Lanning BA, Baier ME, Ivey-Hatz J, Krenek N, Tubbs JD. {{Effects of Equine Assisted Activities on Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (Feb 14)
Quality of life assessments were used in this study to determine the behavioral changes of children diagnosed with autism spectrum disorder (ASD) who participated in equine assisted activities. Behavioral changes of children with ASD participating in 9 weeks of equines assisted activities (EAA) (N = 10) were compared to behavioral changes of children who participated in a non-equine intervention (N = 8). Parents noted significant improvements in their child’s physical, emotional and social functioning following the first 6 weeks of EAA. The children participating in the non-equine program also demonstrated improvement in behavior, but to a lesser degree. The favorable outcome of this study lends support for continuation of programs utilizing EAA in the treatment of children with ASD.
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4. Maffei S, De Felice C, Cannarile P, Leoncini S, Signorini C, Pecorelli A, Montomoli B, Lunghetti S, Ciccoli L, Durand T, Favilli R, Hayek J. {{Effects of omega -3 PUFAs Supplementation on Myocardial Function and Oxidative Stress Markers in Typical Rett Syndrome}}. {Mediators Inflamm};2014;2014:983178.
Rett syndrome (RTT) is a devastating neurodevelopmental disorder with a 300-fold increased risk rate for sudden cardiac death. A subclinical myocardial biventricular dysfunction has been recently reported in RTT by our group and found to be associated with an enhanced oxidative stress (OS) status. Here, we tested the effects of the naturally occurring antioxidants omega -3 polyunsaturated fatty acids ( omega -3 PUFAs) on echocardiographic parameters and systemic OS markers in a population of RTT patients with the typical clinical form. A total of 66 RTT girls were evaluated, half of whom being treated for 12 months with a dietary supplementation of omega -3 PUFAs at high dosage (docosahexaenoic acid ~71.9 +/- 13.9 mg/kg b.w./day plus eicosapentaenoic acid ~115.5 +/- 22.4 mg/kg b.w./day) versus the remaining half untreated population. Echocardiographic systolic longitudinal parameters of both ventricles, but not biventricular diastolic measures, improved following omega -3 PUFAs supplementation, with a parallel decrease in the OS markers levels. No significant changes in the examined echocardiographic parameters nor in the OS markers were detectable in the untreated RTT population. Our data indicate that omega -3 PUFAs are able to improve the biventricular myocardial systolic function in RTT and that this functional gain is partially mediated through a regulation of the redox balance.
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5. Nijmeijer JS, Arias-Vasquez A, Rommelse NN, Altink ME, Buschgens CJ, Fliers EA, Franke B, Minderaa RB, Sergeant JA, Buitelaar JK, Hoekstra PJ, Hartman CA. {{Quantitative Linkage for Autism Spectrum Disorders Symptoms in Attention-Deficit/Hyperactivity Disorder: Significant Locus on Chromosome 7q11}}. {J Autism Dev Disord};2014 (Feb 14)
We studied 261 ADHD probands and 354 of their siblings to assess quantitative trait loci associated with autism spectrum disorder symptoms (as measured by the Children’s Social Behavior Questionnaire (CSBQ)) using a genome-wide linkage approach, followed by locus-wide association analysis. A genome-wide significant locus for the CSBQ subscale addressing social interaction was found on chromosome 7q11, with suggestive signals supporting this locus on three other CSBQ subscales. We identified two other suggestive loci for the CSBQ total scale and individual subscales on chromosomes 4q35 and 7p12. Fine-mapping the significantly linked locus resulted in interesting candidate genes, although their association was not significant after permutation testing.
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6. Srinivasan SM, Pescatello LS, Bhat AN. {{Current Perspectives on Physical Activity and Exercise Recommendations for Obesity and Physical Fitness in Children and Adolescents With Autism Spectrum Disorders}}. {Phys Ther};2014 (Feb 13)
Recent evidence suggests that childhood obesity is increasing in children who are typically developing as well as children with developmental disabilities such as Autism Spectrum Disorders (ASDs). Impairments specific to autism as well as general environmental factors could lead to an imbalance between the intake and expenditure of energy, leading to obesity. In this article, we describe the mechanisms by which autism-specific impairments contribute to obesity. We also discuss the evidence on exercise interventions to improve physical fitness, address obesity, and to reduce autism-specific impairments in children and adolescents with ASDs. There is limited evidence currently available for exercise interventions in individuals with ASDs. Therefore, we will draw upon literature from other pediatric developmental disabilities and children who are developing typically to provide recommendations for clinicians to assess physical activity levels, to promote physical fitness, and to reduce obesity in children and adolescents with ASDs. There is a clear need for further systematic research to develop sensitive assessment tools and holistic multisystem and multifactorial obesity interventions that accommodate the social communication, motor, and behavioral impairments of individuals with ASDs.
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7. Tierney CD, Kurtz M, Panchik A, Pitterle K. {{‘Look at Me When I Am Talking to You’: evidence and assessment of social pragmatics interventions for children with autism and social communication disorders}}. {Curr Opin Pediatr};2014 (Feb 15)
PURPOSE OF REVIEW: This article provides an analysis of the effectiveness of commonly used interventions for social pragmatic interventions for children with autism spectrum disorder (ASD) and social communication disorders. RECENT FINDINGS: Several evidence-based social skills interventions are emerging, including peer mentoring, social skills groups, and video modeling. Social stories are effective as supports for improved interactions but generalization is limited. Research supports the need for multimodality and individualized treatment programs. Research validates that video and visual learning is highly effective with children with ASD when utilized with specific, appropriate targets. Multiple studies have shown that picture-based communication systems are effective at improving functional communication with moderate effects on social communication. Despite limitations in research, there is strong evidence in the existing literature for the role of alternative augmentative communication in improving both functional and social communication. SUMMARY: Social pragmatic interventions when individualized are effective for improving language, adaptive behavior and social skills.
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8. Yao B, Lin L, Street RC, Zalewski ZA, Galloway JN, Wu H, Nelson DL, Jin P. {{Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome}}. {Hum Mol Genet};2014 (Feb 15);23(4):1095-1107.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder in which patients carry premutation alleles of 55-200 CGG repeats in the FMR1 gene. To date, whether alterations in epigenetic regulation modulate FXTAS has gone unexplored. 5-Hydroxymethylcytosine (5hmC) converted from 5-methylcytosine (5mC) by the ten-eleven translocation (TET) family of proteins has been found recently to play key roles in neuronal functions. Here, we undertook genome-wide profiling of cerebellar 5hmC in a FXTAS mouse model (rCGG mice) and found that rCGG mice at 16 weeks showed overall reduced 5hmC levels genome-wide compared with age-matched wild-type littermates. However, we also observed gain-of-5hmC regions in repetitive elements, as well as in cerebellum-specific enhancers, but not in general enhancers. Genomic annotation and motif prediction of wild-type- and rCGG-specific differential 5-hydroxymethylated regions (DhMRs) revealed their high correlation with genes and transcription factors that are important in neuronal developmental and functional pathways. DhMR-associated genes partially overlapped with genes that were differentially associated with ribosomes in CGG mice identified by bacTRAP ribosomal profiling. Taken together, our data strongly indicate a functional role for 5hmC-mediated epigenetic modulation in the etiology of FXTAS, possibly through the regulation of transcription.
