Pubmed du 02/10/09

lundi 5 octobre 2009

1. Begovac I, Begovac B, Majic G, Vidovic V. Longitudinal studies of iq stability in children with childhood autism - literature survey. Psychiatr Danub ;2009 (Sep) ;21(3):310-319.

BACKGROUND : In this paper we present a survey of the literature dealing with IQ stability in children with childhood autism (CA) over the last ten years. Nowadays there is no clear evidence on this topic. SUBJECTS AND METHODS : We used the online "PubMed" database. By inputting the following key words : (autism and IQ and child) and (stability or outcome or follow-up) we obtained a total of 78 references. Out of those 78 references, some papers were left out in line with the exclusion criteria, so this survey includes 23 papers altogether. RESULTS : The average initial IQ point is in the range from borderline intelligence to mild mental retardation. Out of a total of 23 studies, the majority, 19 of them, generally state that there are no changes in IQ, 8 studies mention increased IQ, while 3 studies demonstrate a decrease in IQ. Some studies register different results in the same study. At an individual level, single studies show a similar trend to the general results. CONCLUSION : The majority of studies state that the IQ points will remain the same. Today the generally accepted belief is that therapy should be started intensely and early. Some children with good progress may attend regular school.

2. Kilburn KH, Thrasher JD, Immers NB. Do terbutaline- and mold-associated impairments of the brain and lung relate to autism ? Toxicol Ind Health ;2009 (Sep 30)

Increased prevalence of the autism spectrum disorders (ASD) and the failure to find genetic explanations has pushed the hunt for environmental causes. These disorders are defined clinically but lack objective characterization. To meet this need, we measured neurobehavioral and pulmonary functions in eight ASD boys aged 8 to 19 years diagnosed clinically and compared them to 145 unaffected children from a community with no known chemical exposures. As 6 of 35 consecutive mold/mycotoxin (mold)-exposed children aged 5 to 13 years had ASD, we compared them to the 29 non-ASD mold-exposed children, and to the eight ASD boys. Comparisons were adjusted for age, height, weight, and grade attained in school. The eight ASD boys averaged 6.8 abnormalities compared to 1.0 in community control boys. The six mold-exposed ASD children averaged 12.2 abnormalities. The most frequent abnormality in both groups was balance, followed by visual field quadrants, and then prolonged blink reflex latency. Neuropsychological abnormalities were more frequent in mold-exposed than in terbutaline-exposed children and included digit symbol substitution, peg placement, fingertip number writing errors, and picture completion. Profile of mood status scores averaged 26.8 in terbutaline-exposed, 52 in mold exposed, and 26 in unexposed. The mean frequencies of 35 symptoms were 4.7 in terbutaline, 5.4 in mold/mycotoxins exposed and 1.7 in community controls.

3. Kuhn G, Benson V, Fletcher-Watson S, Kovshoff H, McCormick CA, Kirkby J, Leekam SR. Eye movements affirm : automatic overt gaze and arrow cueing for typical adults and adults with autism spectrum disorder. Exp Brain Res ;2009 (Oct 2)

People with autism spectrum disorder (ASD) show reduced interest towards social aspects of the environment and a lesser tendency to follow other people’s gaze in the real world. However, most studies have shown that people with ASD do respond to eye-gaze cues in experimental paradigms, though it is possible that this behaviour is based on an atypical strategy. We tested this possibility in adults with ASD using a cueing task combined with eye-movement recording. Both eye gaze and arrow pointing distractors resulted in overt cueing effects, both in terms of increased saccadic reaction times, and in proportions of saccades executed to the cued direction instead of to the target, for both participant groups. Our results confirm previous reports that eye gaze cues as well as arrow cues result in automatic orienting of overt attention. Moreover, since there were no group differences between arrow and eye gaze cues, we conclude that overt attentional orienting in ASD, at least in response to centrally presented schematic directional distractors, is typical.

4. Ozgen HM, van Daalen E, Bolton PF, Maloney VK, Huang S, Cresswell L, van den Boogaard MJ, Eleveld MJ, van ’t Slot R, Hochstenbach R, Beemer FA, Barrow M, Barber JC, Poot M. Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders. Clin Genet ;2009 (Oct) ;76(4):348-356.

Autism spectrum disorder (ASD) represents a set of neurodevelopmental disorders with a strong genetic aetiology. Chromosomal rearrangements have been detected in 5-10% of the patients with ASD, and recent applications of array comparative genomic hybridisation (aCGH) are identifying further candidate regions and genes. In this study, we present four patients who implicate microcephalin 1 (MCPH1) in band 8p23.1 as an ASD susceptibility gene. Patient 1 was a girl with a syndromic form of autistic disorder satisfying the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS) and Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Oligonucleotide aCGH (oaCGH) showed that she had a classic inv dup del(8)(qter-> p23.1 ::p23.1-> p21.2) containing at least three candidate genes ; MCPH1 and DLGAP2 within the 6.9-Mb terminal deletion and NEF3 within the concomitant 14.1-Mb duplication. Three further patients with MCPH1 copy number changes were found using single-nucleotide polymorphism (SNP) array analysis in a cohort of 54 families with ASD patients. Our results show that ASD can be a component of the classical inv dup del(8) phenotype and identify changes in copy number of MCPH1 as a susceptibility factor for ASD in the distal short arm of chromosome 8.

5. Rodman JL, Gilbert KA, Grove AB, Cunningham M, Levenson S, Wajsblat L. Efficacy of Brief Quantitative Measures of Play for Screening for Autism Spectrum Disorders. J Autism Dev Disord ;2009 (Oct 2)

Quick and effective screening measures are needed for detecting Autism Spectrum Disorder (ASD). Thirty typically developing children and 30 children with ASD aged 24-68 months were used. This study explored if the ASD group would exhibit less object exploration, diversity of play, and turn-taking than the typically developing group. Older children with ASD performed less turn-taking. On all other measures, IQ accounted for more of the difference between groups than diagnosis. Implications of these results for future research are discussed.

6. Taneja P, Ogier M, Brooks-Harris G, Schmid DA, Katz DM, Nelson SB. Pathophysiology of locus ceruleus neurons in a mouse model of Rett syndrome. J Neurosci ;2009 (Sep 30) ;29(39):12187-12195.

Rett syndrome (RTT) is a neurodevelopmental disorder caused by loss-of-function mutations in the Methyl-CpG-binding protein-2 (MECP2) gene and is characterized by derangements in cognition, behavior, motor control, respiration and autonomic homeostasis, as well as seizures. Deficits in norepinephrine (NE) are thought to contribute to RTT pathogenesis, but little is known about how MeCP2 regulates function of noradrenergic neurons. We therefore characterized morphological, electrical, and neurochemical properties of neurons in the locus ceruleus (LC), the major source of noradrenergic innervation to the central neuraxis, in Mecp2 mutant mice. We found that MeCP2 null LC neurons are electrically hyperexcitable, smaller in size, and express less of the NE-synthesizing enzyme tyrosine hydroxylase (TH) compared with wild-type neurons. Increased excitability of mutant neurons is associated with reductions in passive membrane conductance and the amplitude of the slow afterhyperpolarization. Studies in Mecp2 heterozygotes, which are mosaic for the null allele, demonstrated that electrical hyperexcitability and reduced neuronal size are cell-autonomous consequences of MeCP2 loss, whereas reduced TH expression appears to reflect both cell-autonomous and non-autonomous influences. Finally, we found reduced levels of TH and norepinephrine in cingulate cortex, a forebrain target of the LC. Thus, genetic loss of MeCP2 results in a somewhat paradoxical LC neuron phenotype, characterized by both electrical hyperexcitability and reduced indices of noradrenergic function. Given the importance of the LC in modulating activity in brainstem and forebrain networks, we hypothesize that dysregulation of LC function in the absence of MeCP2 plays a key role in the pathophysiology of RTT.











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