Pubmed du 7/07/09

mercredi 8 juillet 2009

1. Bach M, Dakin SC. "Eagle-Eyed Visual Acuity : An Experimental Investigation of Enhanced Perception in Autism". Biol Psychiatry ;2009 (Jul 2)

2. Gadow KD, Roohi J, Devincent CJ, Kirsch S, Hatchwell E. Association of COMT (Val158Met) and BDNF (Val66Met) Gene Polymorphisms with Anxiety, ADHD and Tics in Children with Autism Spectrum Disorder. J Autism Dev Disord ;2009 (Jul 7)

The aim of the study is to examine rs4680 (COMT) and rs6265 (BDNF) as genetic markers of anxiety, ADHD, and tics. Parents and teachers completed a DSM-IV-referenced rating scale for a total sample of 67 children with autism spectrum disorder (ASD). Both COMT (p = 0.06) and BDNF (p = 0.07) genotypes were marginally significant for teacher ratings of social phobia (etap (2) = 0.06). Analyses also indicated associations of BDNF genotype with parent-rated ADHD (p = 0.01, etap (2) = 0.10) and teacher-rated tics (p = 0.04 ; etap (2) = 0.07). There was also evidence of a possible interaction (p = 0.02, etap (2) = 0.09) of BDNF genotype with DAT1 3’ VNTR with tic severity. BDNF and COMT may be biomarkers for phenotypic variation in ASD, but these preliminary findings remain tentative pending replication with larger, independent samples.

3. Giacobini M. Autistic spectrum disorders and Autism - current theories and evidence. Acta Paediatr ;2009 (Jul 3)

4. Hartley SL, Sikora DM. Sex Differences in Autism Spectrum Disorder : An Examination of Developmental Functioning, Autistic Symptoms, and Coexisting Behavior Problems in Toddlers. J Autism Dev Disord ;2009 (Jul 7)

Little is known about the female presentation of autism spectrum disorder (ASD) during early childhood. We investigated sex differences in developmental profiles using the Mullen Scales of Early Learning, autistic symptoms on the ADOS-G, and coexisting behavior problems on the CBCL in 157 boys and 42 girls with ASD aged 1.5-3.9 years. Overall, boys and girls evidenced a markedly similar pattern of developmental profiles, autism symptoms, and coexisting behavior problems, although subtle differences exist. Boys and girls evidenced a similar pattern of developmental strengths and weaknesses. Girls with ASD evidenced greater communication deficits than boys and boys evidenced more restricted, repetitive, and stereotyped behavior than girls. Girls exhibited more sleep problems and anxious or depressed affect than boys.

5. Haswell CC, Izawa J, L RD, S HM, Shadmehr R. Representation of internal models of action in the autistic brain. Nat Neurosci ;2009 (Jul 5)

Children with autism spectrum disorder (ASD) have deficits in motor control, imitation and social function. Does a dysfunction in the neural basis of representing internal models of action contribute to these problems ? We measured patterns of generalization as children learned to control a novel tool and found that the autistic brain built a stronger than normal association between self-generated motor commands and proprioceptive feedback ; furthermore, the greater the reliance on proprioception, the greater the child’s impairments in social function and imitation.

6. Mencarelli M, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet ;2009 (Jul 2)

BACKGROUND : Rett syndrome is a severe neurodevelopmental disorder representing one of the most common genetic causes of mental retardation in girls. The classic form is caused by MECP2 mutations. In two patients affected by the congenital variant of Rett we have recently identified mutations in the FOXG1 gene encoding a brain-specific transcriptional repressor, essential for early development of the telencephalon. METHODS : Sixty MECP2/CDKL5 mutation-negative European Rett patients (classic and variants), 43 patients with encephalopathy with early-onset seizures and 4 atypical Rett patients were analyzed for mutations in FOXG1. RESULTS : Mutations have been identified in 4 patients, independently classified as congenital Rett variants from France, Spain and Latvia. CONCLUSIONS : Clinical data have been compared with the two previously reported patients with mutations in FOXG1. In all cases hypotonia, irresponsiveness and irritability were present in the neonatal period. At birth head circumference was normal while a deceleration of growth was recognised soon afterwards, leading to severe microcephaly. Motor development was severely impaired and voluntary hand use was absent. In contrast with classic Rett, patients showed poor eye contact. Typical stereotypic hand movements with hand-washing and hand-mouthing activities were present continuously. Some patients showed abnormal movements of the tongue and jerky movements of the limbs. Brain MRI showed corpus callosum hypoplasia in most cases, while epilepsy was a variable sign. Scoliosis was present and severe in the older patients. Neurovegetative symptoms typical of Rett were frequently present.

7. Poot M, Beyer V, Schwaab I, Damatova N, Van’t Slot R, Prothero J, Holder SE, Haaf T. Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics ;2009 (Jul 7)

Patients with autism spectrum disorder (ASD) frequently harbour chromosome rearrangements and segmental aneuploidies, which allow us to identify candidate genes. In a boy with mild facial dysmorphisms, speech delay and ASD, we reconstructed by karyotyping, FISH and SNP array-based segmental aneuploidy profiling a highly complex chromosomal rearrangement involving at least three breaks in chromosome 1 and seven breaks in chromosome 7. Chromosome banding revealed an inversion of region 7q32.1-7q35 on the derivative chromosome 7. FISH with region-specific BACs mapped both inversion breakpoints and revealed additional breaks and structural changes in the CNTNAP2 gene. Two gene segments were transposed and inserted into the 1q31.2 region, while the CNTNAP2 segment between the two transposed parts as well as intron 13 to the 5-UTR were retained on the der(7). SNP array analysis revealed an additional de novo deletion encompassing the distal part of intron1 and exon 2 of CNTNAP2, which contains FOXP2 binding sites. Second, we found another de novo deletion on chromosome 1q41, containing 15 annotated genes, including KCTD3 and USH2A. Disruptions of the CNTNAP2 gene have been associated with ASD and with Gilles de la Tourette syndrome (GTS). Comparison of disruptions of CNTNAP2 in patients with GTS and ASD suggests that large proximal disruptions result in either GTS or ASD, while relatively small distal disruptions may be phenotypically neutral. For full-blown ASD to develop, a proximal disruption of CNTNAP2 may have to occur concomitantly with additional genome mutations such as hemizygous deletions of the KCTD3 and USH2A genes.


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