Pubmed du 28/02/09

lundi 2 mars 2009

1. Chuthapisith J, Dimambro B, Doody G. Effectiveness of a computer assisted learning (CAL) package to raise awareness of autism. BMC Med Educ ;2009 (Feb 26) ;9(1):12.

ABSTRACT : BACKGROUND : Promoting awareness of autism in populations who work with children may result in an earlier diagnosis of the condition. In this study, a computer assisted learning (CAL) package, containing educationally appropriate knowledge about autism was developed ; and the effectiveness of this CAL package was evaluated. METHODS : The CAL package was developed using computer software, "Xerte" and "Flash Macromedia". The effectiveness of the CAL package was evaluated in 32 childcare students in the UK, who were randomised to watch the CAL package or to read the information leaflet containing the same information (n=16 in each group). Retention performance, level of enjoyment, and level of confidence to identify a child with autism, after the interventions, were evaluated. The data obtained from two studied groups was analysed using unpaired Student’s t-test, 95% confidence interval, and effect size. RESULTS : Students who watched the CAL package had superior retention performance percentage scores (p = 0.02, 95% CI = 0.83-12.19, effect size = 0.8) and level of enjoyment (p = 0.04, 95% CI = 0.03-2.75, effect size = 0.7) compared with students who read the information leaflet. However, there was no significant difference in level of confidence to identify a child with autism (p = 0.39, 95% CI = -1.80-0.72, effect size = -0.3). CONCLUSION : The CAL package developed was an effective method of educating people who work with children about autism.

2. Cusco I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, Gonzalez E, Rodriguez-Santiago B, Vilella E, Del Campo M, Perez-Jurado LA. Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Hum Mol Genet ;2009 (Feb 26)

Autism Spectrum Disorders (ASD) constitute a group of severe neurodevelopmental conditions with complex multifactorial etiology. In order to explore the hypothesis that submicroscopic genomic rearrangements underlie some ASD cases, we have analyzed 96 Spanish patients with idiopathic ASD after extensive clinical and laboratory screening, by array comparative genomic hybridization (aCGH) using a homemade BAC array. Only 13 of the 238 detected copy number alterations, ranging in size from 89 Kb to 2.4 Mb, were present specifically in the autistic population (12/96 individuals, 12.5%). Following validation by additional molecular techniques, we have characterized these novel candidate regions containing 24 different genes including alterations in two previously reported regions of chromosome 7 associated with the ASD phenotype. Some of the genes located in ASD-specific CNVs act in common pathways, most notably the phosphatidylinositol signaling and the glutamatergic synapse, both known to be affected in several genetic syndromes related with autism and previously associated with ASD. Our work supports the idea that the functional alteration of genes in related neuronal networks is involved in the etiology of the ASD phenotype and confirms a significant diagnostic yield for aCGH, which should probably be included in the diagnostic workup of idiopathic ASD.

3. Martirosian G, Ekiel A, Aptekorz M, Kazek B, Marszal E, Jankowska-Steifer E, Moskalewski S. Intestinal anaerobic bacteria and autistic mind : is there some relations ? Comment to : The autistic mind : A case study Katarzyna Markiewicz, Bruce Duncan MacQueen Med Sci Monit, 2009 ; 15(1) : CS5-13. Med Sci Monit ;2009 (Mar) ;15(3):LE2-3.


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