Pubmed du 17/09/10

Pubmed du jour

2010-09-17 12:03:50

1. Ahmadlou M, Adeli H, Adeli A. {{Fractality and a Wavelet-Chaos-Neural Network Methodology for EEG-Based Diagnosis of Autistic Spectrum Disorder}}. {J Clin Neurophysiol} (Sep 14)

SUMMARY:: A method is presented for investigation of EEG of children with autistic spectrum disorder using complexity and chaos theory with the goal of discovering a nonlinear feature space. Fractal Dimension is proposed for investigation of complexity and dynamical changes in autistic spectrum disorder in brain. Two methods are investigated for computation of fractal dimension: Higuchi’s Fractal Dimension and Katz’s Fractal Dimension. A wavelet-chaos-neural network methodology is presented for automated EEG-based diagnosis of autistic spectrum disorder. The model is tested on a database of eyes-closed EEG data obtained from two groups: nine autistic spectrum disorder children, 6 to 13 years old, and eight non-autistic spectrum disorder children, 7 to 13 years old. Using a radial basis function classifier, an accuracy of 90% was achieved based on the most significant features discovered via analysis of variation statistical test, which are three Katz’s Fractal Dimensions in delta (of loci Fp2 and C3) and gamma (of locus T6) EEG sub-bands with P < 0.001.

2. Ben-Yizhak N, Yirmiya N, Seidman I, Alon R, Lord C, Sigman M. {{Pragmatic Language and School Related Linguistic Abilities in Siblings of Children with Autism}}. {J Autism Dev Disord} (Sep 16)

Siblings of probands with autism spectrum disorders are at higher risk for developing the broad autism phenotype (BAP). We compared the linguistic abilities (i.e., pragmatic language, school achievements, and underling reading processes) of 35 school-age siblings of children with autism (SIBS-A) to those of 42 siblings of children with typical development. Results indicated lower pragmatic abilities in a subgroup of SIBS-A identified with BAP related difficulties (SIBS-A-BAP) whereas school achievements and reading processes were intact. Furthermore, among SIBS-A-BAP, significant negative correlations emerged between the severity scores on the Autism Diagnostic Observation Schedule and full and verbal IQ scores. These results are discussed in the context of the developmental trajectories of SIBS-A and in relation to the BAP.

3. Dachs R, Darby-Stewart A, Graber MA. {{Autism and Childhood Vaccinations: Debunking the Myth}}. {Am Fam Physician} (Sep 15);82(6):586.

4. Kato N, Yamasue H, Watanabe K, Jinde S, Sadamatsu M. {{[Autism Spectrum Disorders:Recent Advances in the Research on the Impairment in Social Communication.]}}. {Brain Nerve} (Sep);62(9):975-986.

Abstract Since the discovery of early infantile autism (1943), the etiology of the disease has for long been a matter of dispute-from a form of innate schizophrenia, maltreatment by ‘refrigerator mother’, to dysfunction of speech development. After the re-discovery of Asperger syndrome by Wing (1981), the concept of this diverse syndrome complex has merged to pervasive developmental disorders (PDD) or autism spectrum disorders (ASD). People suffering from Asperger syndrome do not show impairments in speech development, in fact, they have good linguistic abilities. They can explain their own psychopathology, which helps in the understanding of classical autism with profound mental retardation. Currently, ASD is prevalent in 1 of 150 births with strong genetic inheritance. ASD is therefore thought a psychiatric common disease. Asperger syndrome has frequently been the subject of neuroimaging studies,since social communication is an important characteristic of human behavior. This review encompasses a historical and clinical overview of ASD and puts force the current perspectives on the researches in animal models,genetic studies of animal and human samples,and neuroimaging studies. Our current focus is the possible role of oxytocin,which was recently found to have an effect on empathy,in the etiology of ASD.

5. Kliemann D, Dziobek I, Hatri A, Steimke R, Heekeren HR. {{Atypical Reflexive Gaze Patterns on Emotional Faces in Autism Spectrum Disorders}}. {J Neurosci} (Sep 15);30(37):12281-12287.

Atypical scan paths on emotional faces and reduced eye contact represent a prominent feature of autism symptomatology, yet the reason for these abnormalities remains a puzzle. Do individuals with autism spectrum disorders (ASDs) fail to orient toward the eyes or do they actively avoid direct eye contact? Here, we used a new task to investigate reflexive eye movements on fearful, happy, and neutral faces. Participants (ASDs: 12; controls: 11) initially fixated either on the eyes or on the mouth. By analyzing the frequency of participants’ eye movements away from the eyes and toward the eyes, respectively, we explored both avoidance and orientation reactions. The ASD group showed a reduced preference for the eyes relative to the control group, primarily characterized by more frequent eye movements away from the eyes. Eye-tracking data revealed a pronounced influence of active avoidance of direct eye contact on atypical gaze in ASDs. The combination of avoidance and reduced orientation into an individual index predicted emotional recognition performance. Crucially, this result provides evidence for a direct link between individual gaze patterns and associated social symptomatology. These findings thereby give important insights into the social pathology of ASD, with implications for future research and interventions.

6. Meguid NA, Dardir AA, Abdel-Raouf ER, Hashish A. {{Evaluation of Oxidative Stress in Autism: Defective Antioxidant Enzymes and Increased Lipid Peroxidation}}. {Biol Trace Elem Res} (Sep 16)

Autism is a neurodevelopmental disorder of childhood with poorly understood etiology and pathology. This pilot study aims to evaluate the levels of antioxidant enzymes, superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px), and levels of malondialdehyde (MDA), a marker of lipid peroxidation, in Egyptian autistic children. Autism is a neurodevelopmental disorder of childhood with poorly understood etiology and pathology. The present study included 20 children with autism diagnosed by DSM-IV-TR criteria and Childhood Autism Rating Scale. Controls included 25 age-matched healthy children. Cases were referred to Outpatient Clinic of Children with Special Needs Department, National Research Center, Cairo, Egypt. We compared levels of SOD, GSH-Px, and MDA in children with autism and controls. In children less than 6 years of age, levels of SOD, and GSH-Px were significantly lower in autistic children compared with their controls, while MDA was significantly higher among patients than controls. In children older than 6 years, there was no significant difference in any of these values between cases and controls. We concluded that children with autism are more vulnerable to oxidative stress in the form of increased lipid peroxidation and deficient antioxidant defense mechanism especially at younger children. We highlight that autistic children might benefit from antioxidants supplementation coupled with polyunsaturated fatty acids. Moreover, early assessment of antioxidant status would have better prognosis as it may decrease the oxidative stress before inducing more irreversible brain damage.

7. Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, Gauthier J, Crosbie J, Pagnamenta AT, Munson J, Estes AM, Fiebig A, Franke A, Schreiber S, Stewart AF, Roberts R, McPherson R, Guter SJ, Cook EH, Jr., Dawson G, Schellenberg GD, Battaglia A, Maestrini E, Jeng L, Hutchison T, Rajcan-Separovic E, Chudley AE, Lewis SM, Liu X, Holden JJ, Fernandez B, Zwaigenbaum L, Bryson SE, Roberts W, Szatmari P, Gallagher L, Stratton MR, Gecz J, Brady AF, Schwartz CE, Schachar RJ, Monaco AP, Rouleau GA, Hui CC, Lucy Raymond F, Scherer SW, Vincent JB. {{Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability}}. {Sci Transl Med} (Sep 15);2(49):49ra68.

Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, although the underlying genetic factors remain largely unknown. Here, we report mutations in the X-chromosome PTCHD1 (patched-related) gene in seven families with autism spectrum disorder (ASD) and in three families with intellectual disability. A 167-kilobase microdeletion spanning exon 1 was found in two brothers, one with ASD and the other with a learning disability and ASD features; a 90-kilobase microdeletion spanning the entire gene was found in three males with intellectual disability in a second family. In 900 probands with ASD and 208 male probands with intellectual disability, we identified seven different missense changes (in eight male probands) that were inherited from unaffected mothers and not found in controls. Two of the ASD individuals with missense changes also carried a de novo deletion at another ASD susceptibility locus (DPYD and DPP6), suggesting complex genetic contributions. In additional males with ASD, we identified deletions in the 5′ flanking region of PTCHD1 that disrupted a complex noncoding RNA and potential regulatory elements; equivalent changes were not found in male control individuals. Thus, our systematic screen of PTCHD1 and its 5′ flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability.