Pubmed du 20/10/10

Pubmed du jour

2010-10-20 12:03:50

1. Borremans E, Rintala P, McCubbin JA. {{Physical fitness and physical activity in adolescents with asperger syndrome: a comparative study}}. {Adapt Phys Activ Q} (Oct);27(4):308-320.

While physical activity is beneficial for youth with developmental disabilities, little is known about those individuals’ fitness profile and levels of activity. Therefore the purpose of this study was to investigate the physical fitness profile and physical activity level of 30 adolescents with and without Asperger syndrome (AS). Evaluations were done using the Eurofit physical fitness test and the Baecke Habitual Physical Activity questionnaire. A 2 x 2 MANOVA indicated that adolescents with AS scored significantly lower than the comparison group on all physical fitness subtests, including balance, coordination, flexibility, muscular strength, running speed, and cardio-respiratory endurance (p < .001). Adolescents with AS were also less physically active (p < .001). Engagement in physical activities is therefore recommended.

2. Fischbach GD, Lord C. {{The Simons Simplex Collection: a resource for identification of autism genetic risk factors}}. {Neuron} (Oct 21);68(2):192-195.

In an effort to identify de novo genetic variants that contribute to the overall risk of autism, the Simons Foundation Autism Research Initiative (SFARI) has gathered a unique sample called the Simons Simplex Collection (SSC). More than 2000 families have been evaluated to date. On average, probands in the current sample exhibit moderate to severe autistic symptoms with relatively little intellectual disability. An interactive database has been created to facilitate correlations between clinical, genetic, and neurobiological data.

3. Jones CR, Pickles A, Falcaro M, Marsden AJ, Happe F, Scott SK, Sauter D, Tregay J, Phillips RJ, Baird G, Simonoff E, Charman T. {{A multimodal approach to emotion recognition ability in autism spectrum disorders}}. {J Child Psychol Psychiatry} (Oct 18)

Background: Autism spectrum disorders (ASD) are characterised by social and communication difficulties in day-to-day life, including problems in recognising emotions. However, experimental investigations of emotion recognition ability in ASD have been equivocal, hampered by small sample sizes, narrow IQ range and over-focus on the visual modality. Methods: We tested 99 adolescents (mean age 15;6 years, mean IQ 85) with an ASD and 57 adolescents without an ASD (mean age 15;6 years, mean IQ 88) on a facial emotion recognition task and two vocal emotion recognition tasks (one verbal; one non-verbal). Recognition of happiness, sadness, fear, anger, surprise and disgust were tested. Using structural equation modelling, we conceptualised emotion recognition ability as a multimodal construct, measured by the three tasks. We examined how the mean levels of recognition of the six emotions differed by group (ASD vs. non-ASD) and IQ (>/= 80 vs. < 80). Results: We found no evidence of a fundamental emotion recognition deficit in the ASD group and analysis of error patterns suggested that the ASD group were vulnerable to the same pattern of confusions between emotions as the non-ASD group. However, recognition ability was significantly impaired in the ASD group for surprise. IQ had a strong and significant effect on performance for the recognition of all six emotions, with higher IQ adolescents outperforming lower IQ adolescents. Conclusions: The findings do not suggest a fundamental difficulty with the recognition of basic emotions in adolescents with ASD.

4. Lajonchere CM. {{Changing the landscape of autism research: the autism genetic resource exchange}}. {Neuron} (Oct 21);68(2):187-191.

Autism Speaks’ Autism Genetic Resource Exchange (AGRE) represents the largest private collection of genetic and phenotype data for families with ASD that is made available to qualified researchers worldwide. The availability of large and comprehensive registries that include detailed phenotype and genetic information for individuals affected with an ASD and family members is crucial for the discovery of autism susceptibility genes and the development and application of biologically based approaches to diagnosis and treatment. The model that AGRE has developed can be applied broadly to other disorders with complex etiologies.

5. Mavropoulou S, Papadopoulou E, Kakana D. {{Effects of Task Organization on the Independent Play of Students with Autism Spectrum Disorders}}. {J Autism Dev Disord} (Oct 20)

The purpose of the study was to examine the impact of task organization, a component of Structured Teaching developed by Division TEACCH, on the independent play of children with autism spectrum disorders (ASD). On-task behavior, task accuracy, task performance and teacher prompting were measured across independent play sessions in the classroom. An ABAB design was implemented to evaluate the effects of task organization on the independent play skills of two young children with ASD. Results regarding on-task behavior, task accuracy and independence were variable and are discussed. The implications of findings on the use of task organization for increasing independence in children with ASD are discussed.

6. Qiu Z, Cheng J. {{The Role of Calcium-Dependent Gene Expression in Autism Spectrum Disorders: Lessons from MeCP2, Ube3a and Beyond}}. {Neurosignals} (Oct 19)

During the last decade, autism spectrum disorders (ASD) have become the center of attention where several branches of modern biology unexpectedly meet, such as neural development, molecular biology, epigenetics, neurophysiology and psychiatry. This review will focus on the molecular mechanism by which calcium-dependent gene expression regulates brain development and how ASD may occur if this process is compromised. Specifically, the studies of the calcium-dependent transcriptional repressor MeCP2 gave us much insight about how abnormal development may lead to ASD. Most recently, studies about Ube3a, a critical component of the ubiquitination system enzyme, shed light on how neural activity regulates synapse function through the protein degradation pathway. Taken together, these studies suggest that ASD may be caused by the incapability of neurons to generate adaptive responses via regulating gene expression upon incoming activity.

7. Shen C, Zhao XL, Ju W, Zou XB, Huo LR, Yan W, Zou JH, Yan GD, Jenkins EC, Brown WT, Zhong N. {{A Proteomic Investigation of B Lymphocytes in an Autistic Family: A Pilot Study of Exposure to Natural Rubber Latex (NRL) May Lead to Autism}}. {J Mol Neurosci} (Oct 19)

Autism is a multi-factorial neurodevelopmental disorder. We have investigated the molecular mechanism involved in a Chinese family with autism by a proteomic approach. Antibody chips containing 500 spots of human protein antibodies were used to screen for differentially expressed proteins in the peripheral B lymphocytes between autistic and non-autistic siblings in this family. Four proteins relevant to immuno-pathway, including IKKalpha that was up-regulated and Tyk2, EIF4G1 and PRKCI that were down-regulated, were identified differentially expressed in autistic versus non-autistic siblings. Western blot analysis and reverse transcription quantitative polymerase chain reaction validated the differential expression of these four proteins. Based on the function of these differentially expressed proteins, relevant studies on immunoglobulin E (IgE) level, nuclear factor kappa B signaling activation and cell cycle were conducted in both autistic and non-autistic children of this family. Considering the fact that the family members were in close contact with natural rubber latex (NRL) and that IgE-mediated cross-reactions could be triggered by Hevea brasiliensis (Hev-b) proteins in NRL, we hypothesize that immune reactions triggered by close contact with NRL might influence the functions of B lymphocytes by altering expression of certain proteins identified in our experiments thus contributing to the occurrence of autism.

8. State MW. {{The genetics of child psychiatric disorders: focus on autism and Tourette syndrome}}. {Neuron} (Oct 21);68(2):254-269.

Investigations into the genetics of child psychiatric disorders have finally begun to shed light on molecular and cellular mechanisms of psychopathology. The first strains of success in this notoriously difficult area of inquiry are the result of an increasingly sophisticated appreciation of the allelic architecture of common neuropsychiatric and neurodevelopmental disorders, the consolidation of large patient cohorts now beginning to reach sufficient size to power reliable studies, the emergence of genomic tools enabling comprehensive investigations of rare as well as common genetic variation, and advances in developmental neuroscience that are fueling the rapid translation of genetic findings.

9. Villagonzalo KA, Dodd S, Dean O, Gray K, Tonge B, Berk M. {{Oxidative pathways as a drug target for the treatment of autism}}. {Expert Opin Ther Targets} (Oct 18)

Importance of the field: Autism is a severe, pervasive developmental disorder, the aetiology of which is poorly understood. Current pharmacological treatment options for autism are often focused on addressing comorbid behavioural problems, rather than core features of the disorder. Investigation of a new treatment approach is needed. Areas covered in this review: Recent research has indicated a possible role of abnormalities in oxidative homeostasis in the pathophysiology of autism, based on reports that a range of oxidative biomarkers are significantly altered in people with autism. This article reviews the current findings on oxidative stress in autism, including genetic links to oxidative pathways, changes in antioxidant levels and other oxidative stress markers. We conducted a search of the literature up to June 2010, using Medline, Pubmed, PsycINFO, CINAHL PLUS and BIOSIS Previews. What the reader will gain: This review provides an overview of the current understanding of the role of oxidative stress in autism. This will assist in highlighting areas of future therapeutic targets and potential underlying pathophysiology of this disorder. Take home message: Abnormalities in oxidative homeostasis may play a role in the pathophysiology of autism. Antioxidant treatment may form a potential therapeutic pathway for this complex disorder.