Pubmed du 20/12/08

lundi 5 janvier 2009

1. Benson V, Piper J, Fletcher-Watson S. Atypical saccadic scanning in autistic spectrum disorder. Neuropsychologia ;2008 (Nov 27)

Saccadic scanning was examined for typically developing (TD) adults and those with autistic spectrum disorder (ASD) during inspection of the ’Repin’ picture (Yarbus, A. (1967). Eye movements and vision. New York : Plenum) under two different viewing instructions : (A) material instructions (’Estimate the material circumstances of the family’) ; and (B) social instructions (’Estimate how long the unexpected visitor has been away’). Proportions of fixations and viewing time on the people and the objects in the scene differed between the two task instructions for TD, but not ASD participants showing that people with ASD did not differentially sample the scene according to top down instruction. One tentative explanation for these findings is that dysfunctional or underdeveloped fronto-parietal feedback systems in ASD, could result in defective saccadic sampling strategies, leading to impairments with cognitive processing in ASD.

2. Kim HU. Development of early language and motor skills in preschool children with autism. Percept Mot Skills ;2008 (Oct) ;107(2):403-406.

The present study investigated whether the onset of babbling was related (a) to later language ages, (b) later Fine and Gross Motor Ages, and (c) the onset of crawling to later language ages of preschool children with autism. Parents or caregivers of 32 children (6 girls, 26 boys) were given the Vineland Adaptive Behavior Scales to assess general adaptive behaviors. The onset of babbling and of first words were significantly correlated ; however, babbling onset was not related to later language ages nor was it related to Gross and Fine Motor Ages. No significant correlation was observed between the onset of crawling and later language ages.

3. Koyama T, Tachimori H, Sawamura K, Koyama A, Naganuma Y, Makino H, Takeshima T. Mental health literacy of autism spectrum disorders in the Japanese general population. Soc Psychiatry Psychiatr Epidemiol ;2008 (Dec 18)

OBJECTIVE : We aimed to clarify the public’s mental health literacy of autism spectrum disorders (ASD). METHODS : Using a vignette of a young child, 500 Japanese participants were asked their perspectives, such as causes and appropriate coping strategies. For each response from those respondents who correctly identified the child as having autism, we tested the effects of sex and generation. RESULTS : Two hundred twenty-nine respondents (45.8%) correctly identified the child as having autism. Significantly (P < 0.05) more females planned practical coping strategies such as contacting public agencies, whereas males had relatively more irrelevant perceptions, for example, significantly more males attributed ASD to social environment. Significantly more young respondents expected psychiatric treatments such as antipsychotic administration to be effective, and more seniors estimated low that the prevalence is approximately 0.01% or less. CONCLUSIONS : The mental health literacy of ASD among the Japanese public appears to be acceptable but there is still much room for improvement. Females showed more accurate knowledge, possibly reflecting gender roles. Some young people are not likely to know of the impact of psychiatric treatment, and seniors appear to be unaware of the current broadened recognition of ASD. Continued efforts to disseminate accurate information are required, particularly among males.

4. Loveland KA, Steinberg JL, Pearson DA, Mansour R, Reddoch S. Judgments of auditory-visual affective congruence in adolescents with and without autism : a pilot study of a new task using fMRI. Percept Mot Skills ;2008 (Oct) ;107(2):557-575.

One of the most widely reported developmental deficits associated with autism is difficulty perceiving and expressing emotion appropriately. Brain activation associated with performance on a new task, the Emotional Congruence Task, requires judging affective congruence of facial expression and voice, compared with their sex congruence. Participants in this pilot study were adolescents with normal IQ (n = 5) and autism or without (n = 4) autism. In the emotional congruence condition, as compared to the sex congruence of voice and face, controls had significantly more activation than the Autism group in the orbitofrontal cortex, the superior temporal, parahippocampal, and posterior cingulate gyri and occipital regions. Unlike controls, the Autism group did not have significantly greater prefrontal activation during the emotional congruence condition, but did during the sex congruence condition. Results indicate the Emotional Congruence Task can be used successfully to assess brain activation and behavior associated with integration of auditory and visual information for emotion. While the numbers in the groups are small, the results suggest that brain activity while performing the Emotional Congruence Task differed between adolescents with and without autism in fronto-limbic areas and in the superior temporal region. These findings must be confirmed using larger samples of participants.

5. Skuse D, Mandy W, Steer C, Miller L, Goodman R, Lawrence K, Emond A, Golding J. Social Communication Competence and Functional Adaptation in a General Population of Children : Preliminary Evidence for Sex-by-Verbal IQ Differential Risk. J Am Acad Child Adolesc Psychiatry ;2008 (Dec 20)

OBJECTIVE :: The proportion of schoolchildren with mild social communicative deficits far exceeds the number diagnosed with an autistic spectrum disorder (ASD). We aimed to ascertain both the population distribution of such deficits and their association with functional adaptation and cognitive ability in middle childhood. METHOD :: The parent-report Social and Communication Disorders Checklist was administered to participants (n = 8,094) in the Avon Longitudinal Study of Parents and Children. We correlated impairment severity with independent clinical diagnoses of ASD, cognitive abilities, and teacher-rated maladaptive behavior. RESULTS :: Social and Communication Disorders Checklist scores were continuously distributed in the general population ; boys had mean scores 30% higher than girls. Social communicative deficits were associated with functional impairment at school, especially in domains of hyperactivity and conduct disorders. A sex-by-verbal IQ interaction effect occurred : verbal IQ was protective against social communication impairments across the range of abilities in female subjects only. In male subjects, this protective effect did not exist for those with above-average verbal IQ. CONCLUSIONS :: Social communicative deficits are of prognostic significance, in terms of behavioral adjustment at school, for boys and girls. Their high general population prevalence emphasizes the importance of measuring such traits among clinically referred children who do not meet diagnostic ASD criteria. Above-average verbal IQ seems to confer protection against social communication impairments in female subjects but not in male subjects.

6. Xu S, Han JC, Morales A, Menzie CM, Williams K, Fan YS. Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. Cytogenet Genome Res ;2008 ;122(2):181-187.

WAGR (Wilms tumor, Aniridia, Genitourinary malformations and mental Retardation) syndrome is a rare genomic disorder caused by deletion of the 11p14-p12 chromosome region. The majority of WAGR patients have mental retardation and behavioral problems, and more than 20% of the patients also have features of autism. While the Wilms tumor/genitourinary anomalies and aniridia are caused by deletion of WT1 and PAX6 respectively, the genomic cause of mental retardation and autism in WAGR syndrome remains unknown. Using oligonucleotide arrays, we have characterized the 11p14-p12 deletions in 31 patients and identified all the genes involved in each deletion. The deletions had sizes ranging from 4.9 to 23 Mb that encompass 18-62 genes (40 on average). In addition to WT1 and PAX6, all the patients had deletion of PRRG4 (transmembrane gamma-carboxyglutamic acid protein 4). The majority of them had deletion of BDNF (brain-derived neurotrophic factor) and SLC1A2 [solute carrier family 1 (glial high affinity glutamate transporter) member 2]. Deletion of BDNF and SLC1A2 occurred in patients with autism more frequently than in those without autism. Literature review on the functions of the genes suggests that haploinsufficiency of SLC1A2, PRRG4, and BDNF may contribute to mental retardation and behavioral problems. In particular, BDNF may modulate the risk of autism in WAGR patients as suggested by its link with Rett syndrome as a target of MECP2. We observed that all the de novo deletions occurred in the chromosome 11 inherited from the father in the families genotyped, implying a predisposition for de novo mutations occurring in spermatogenesis and possible involvement of imprinting in cognitive impairment in WAGR patients.


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