Pubmed du 14/04/11

Pubmed du jour

2011-04-14 12:03:50

1. Allen ML, Chambers A. {{Implicit and explicit understanding of ambiguous figures by adolescents with autism spectrum disorder}}. {Autism}. 2011 Apr 12.

Children with autism spectrum disorder (ASD) can process both interpretations of an ambiguous figure (e.g. rabbit/duck) when told about the ambiguity, however they tend not to do so spontaneously. Here we show that although adolescents with ASD can explicitly experience such ‘reversals’, implicit measures suggest they are conceptually processing the images differently from learning disabled peers. Participants copied the same ambiguous figures under different contextual conditions, both before and after reversal experience. Results suggest that adolescents with ASD are not influenced by contextual information when copying ambiguous drawings, since they produce similar pictures before and after reversal, compared with controls. This research has implications for how individuals with ASD understand multiple representations and supports the Enhanced Perceptual Functioning theory.

2. Beversdorf DQ, Saklayen S, Higgins KF, Bodner KE, Kanne SM, Christ SE. {{Effect of propranolol on word fluency in autism}}. {Cogn Behav Neurol}. 2011 Mar;24(1):11-7.

OBJECTIVE AND BACKGROUND: Autism is characterized by repetitive behaviors and impaired socialization and communication. Preliminary evidence showed possible language benefits in autism from the beta-adrenergic antagonist propranolol. Earlier studies in other populations suggested propranolol might benefit performance on tasks involving a search of semantic and associative networks under certain conditions. Therefore, we wished to determine whether this benefit of propranolol includes an effect on semantic fluency in autism. METHODS: A sample of 14 high-functioning adolescent and adult participants with autism and 14 matched controls were given letter and category word fluency tasks on 2 separate testing sessions; 1 test was given 60 minutes after the administration of 40 mg propranolol orally, and 1 test was given after placebo, administered in a double-blinded, counterbalanced manner. RESULTS: Participants with autism were significantly impaired compared with controls on both fluency tasks. Propranolol significantly improved performance on category fluency, but not letter fluency among autism participants. No drug effect was observed among controls. Expected drug effects on heart rate and blood pressure were observed in both the groups. CONCLUSIONS: Results are consistent with a selective beneficial effect of propranolol on flexibility of access to semantic and associative networks in autism, with no observed effect on phonological networks. Further study will be necessary to understand potential clinical implications of this finding.

3. Eriksson M, Westerlund M. {{[Screening for low-prevalence conditions is problematic. Examples from the Gothenburg autism study]}}. {Lakartidningen}. 2011 Feb 23-Mar 1;108(8):384-5.

4. Pagani M, Manouilenko I, Stone-Elander S, Odh R, Salmaso D, Hatherly R, et al. {{Brief Report: Alterations in Cerebral Blood Flow as Assessed by PET/CT in Adults with Autism Spectrum Disorder with Normal IQ}}. {J Autism Dev Disord}. 2011 Apr 13.

Specific biological markers for Autism Spectrum Disorder (ASD) have not yet been established. Functional studies have shown abnormalities in the anatomo-functional connectivity of the limbic-striatal « social » brain. This study aimed to investigate regional cerebral blood flow (rCBF) at rest. Thirteen patients with ASD of normal intelligence and ten IQ-, sex- and age-matched healthy controls (HC) underwent PET/CT using [1-(11)C]butanol, a perfusion tracer. As compared to HC, ASD showed significant CBF increases in the right parahippocampal, posterior cingulate, primary visual and temporal cortex, putamen, caudatus, substantia nigra and cerebellum. No statistically significant correlation between CBF and IQ was found. The limbic, posterior associative and cerebellar cortices showed increased blood flow in ASD, confirming previous findings about the neurobiology of ASD.

5. Pring L, Ryder N, Crane L, Hermelin B. {{Creativity in Savant Artists With Autism}}. {Autism}. 2011 Apr 12.

Individuals with autism spectrum disorder (ASD) often display impairments in creativity, yet savant artists with ASD are reported to produce highly novel and original artistic outputs. To explore this paradox, we assessed nine savant artists with ASD, nine talented art students, nine non-artistically talented individuals with ASD, and nine individuals with mild/moderate learning difficulties (MLD) on tasks in and out of their domain of expertise. This was to ascertain whether the performance of the savant artists was related to their artistic ability, their diagnosis of ASD or their level of intellectual functioning. Results demonstrated that the responses of the art students were more creative (as assessed on measures of fluency, originality, elaboration, and flexibility) than the savant, ASD, and MLD groups on a drawing task. Although the savants did produce more elaborative responses than the ASD and MLD groups, no differences were observed on the other indices of creativity. On a non-drawing task, the savants produced more original outputs than the ASD and MLD groups (scoring similarly to the art students), but group differences were not observed on the other measures.

6. Roche-Martinez A, Gerotina E, Armstrong-Moron J, Sans-Capdevila O, Pineda M. {{[FOXG1, a new gene responsible for the congenital form of Rett syndrome.]}}. {Rev Neurol}. 2011 May 16;52(10):597-602.

INTRODUCTION. Rett syndrome (RS) is a neurodevelopmental disorder that affects girls almost exclusively. The identification of mutations in the MECP2 and CDKL5 genes offers genetic confirmation of the clinical diagnosis. The FOXG1 gene appears to be a novel cause of the congenital variant of RS. CASE REPORT. We describe the first Spanish patient with the atypical (congenital) variant of RS with mutation of the FOXG1 gene and the case is compared with 12 patients previously reported in the literature; clinical criteria that suggest alterations in FOXG1 are proposed. The patient was referred at the age of 6 months due to overall retardation, axial hypotonia, microcephaly and a peculiar phenotype. Magnetic resonance imaging of the brain revealed hypoplasia of the corpus callosum, frontal atrophy and ventriculomegaly. The appearance of hand-to-mouth stereotypic movements at 12 months pointed the clinical diagnosis towards an atypical variant of RS, the congenital form; there was progressive improvement of visual contact and interest in her surroundings. Frequent respiratory infections and obstructive sleep apnoea syndrome. At the age of 5 years there was partial control over the axial tone, grasping with the hands, good contact and babbling, without epilepsy or behavioural disorders. The MECP2 and subtelomeric deletion study did not reveal any alterations; two polymorphisms were identified in the CDKL5 gene and a pathogenic mutation was found in FOXG1 (c.624C>G p.Tyr203X). CONCLUSIONS. It has been shown that 92% of patients with mutations in the FOXG1 gene present the congenital form of RS with severe generalised hypotonia, early acquired microcephaly (-3 to -6 standard deviations) and peculiar phenotype. When faced with a diagnosis of RS with no alterations in the MECP2 and CDKL5 genes, especially in the case of the congenital variant, the FOXG1 gene must be investigated. The molecular diagnosis confirms the clinical diagnosis and provides the family with genetic counselling.

7. Stahmer AC, Akshoomoff N, Cunningham AB. {{Inclusion for toddlers with autism spectrum disorders: The first ten years of a community program}}. {Autism}. 2011 Apr 12.

The present quasi-experimental study examines the outcomes for a group of 102 children diagnosed with an autism spectrum disorder at age 2 who attended an inclusive toddler program (described by Stahmer and Ingersoll, 2004) until age 3. Outcomes on standardized developmental assessments indicate significant improvement, with large effect sizes, in developmental level, adaptive behavior and communication. Thirty-one of the children (31%) were functioning in the typically developing range when they exited the program at age 3, after an average of 8 months of intervention. Predictors of positive outcomes included length of time in the program, level of words and gestures use at entry and higher externalizing and lower internalizing behavior CBCL scores at entry. Implications for serving toddlers with autism in inclusive settings and suggestions for future research directions are discussed.