Pubmed du 5/02/09

mardi 10 février 2009

1. Brendel C, Klahold E, Gartner J, Huppke P. Suppression of nonsense mutations in Rett Syndrome by aminoglycoside antibiotics. Pediatr Res ;2009 (Jan 28)

Rett Syndrome (RTT) is caused in more than 60% of cases by nonsense mutations in the MECP2 gene. So far, no curative therapy for RTT has become available. In other genetic disorders, it has been shown that aminoglycosides can cause a read-through of nonsense mutations with an efficiency of up to 20%. The aim of this study was to evaluate if this therapeutic concept is applicable to RTT. Methods : HeLa cells were transfected with eukaryotic expression vectors carrying mutant alleles of frequently occurring MECP2 nonsense mutations that were N-terminally fused to a FLAG tag. Transfected cells were incubated 24h in the presence of gentamicin. The expression of full-length protein was analyzed by Western blotting and immunofluorescent cell staining. Results : In the presence of gentamicin a read-through varying between 6.3 and 21.9% was found, depending on the nucleotide sequence context of the nonsense mutations. The full-length protein was located correctly in the nucleus. Conclusion : We have shown that aminoglycoside mediated read-through of nonsense mutations in the MECP2 gene can be achieved in vitro with efficiency comparable to that seen in other disorders.

2. Dhossche DM, Reti IM, Wachtel LE. Catatonia and Autism : A Historical Review, With Implications for Electroconvulsive Therapy. J Ect ;2009 (Jan 31)

Current autism research is historically separated from catatonia and other childhood psychotic disorders, although catatonia and autism share several common symptoms (mutism, echolalia, stereotypic speech and repetitive behaviors, posturing, grimacing, rigidity, mannerisms, and purposeless agitation). Electroconvulsive therapy (ECT) effectively treats catatonia and catatonia-related conditions of intractable compulsions, tics, and self-injury in people with autism. We assess the incidence of catatonic symptoms in autism, examine emerging ECT indications in people with autism and related developmental disorders, and encourage ethical debate and legal-administrative action to assure equal access to ECT for people with autism.

3. Kanne SM, Abbacchi AM, Constantino JN. Multi-informant Ratings of Psychiatric Symptom Severity in Children with Autism Spectrum Disorders : The Importance of Environmental Context. J Autism Dev Disord ;2009 (Feb 4)

The present study examines co-occurring psychiatric syndromes in a well-characterized sample of youths with autism spectrum disorders (ASD ; n = 177) and their siblings (n = 148), reported independently by parents and teachers. In ASD, parents reported substantial comorbidity with affective (26%), anxiety (25%), attentional (25%), conduct (16%), oppositional (15%), and somatic problems (6%). Teachers reported a much lower prevalence. Autistic severity scores for children with ASD exhibited moderate correlations with general psychopathology within- but not across-informants, whereas, sibling correlations were significant both within- and across-informants. Results support the role of environmental context in psychiatric symptom expression in children affected by autism and suggest that informant discrepancies may more provide critical cues for these children via specific environmental modifications.

4. Mandell DS, Wiggins LD, Carpenter LA, Daniels J, Diguiseppi C, Durkin MS, Giarelli E, Morrier MJ, Nicholas JS, Pinto-Martin JA, Shattuck PT, Thomas KC, Yeargin-Allsopp M, Kirby RS. Racial/Ethnic Disparities in the Identification of Children With Autism Spectrum Disorders. Am J Public Health ;2009 (Feb 5)

Objectives. We sought to examine racial and ethnic disparities in the recognition of autism spectrum disorders (ASDs). Methods. Within a multisite network, 2568 children aged 8 years were identified as meeting surveillance criteria for ASD through abstraction of evaluation records from multiple sources. Through logistic regression with random effects for site, we estimated the association between race/ethnicity and documented ASD, adjusting for gender, IQ, birthweight, and maternal education. Results. Fifty-eight percent of children had a documented autism spectrum disorder. In adjusted analyses, children who were Black (odds ratio [OR]=0.79 ; 95% confidence interval [CI]=0.64, 0.96), Hispanic (OR=0.76 ; CI=0.56, 0.99), or of other race/ethnicity (OR=0.65 ; CI=0.43, 0.97) were less likely than were White children to have a documented ASD. This disparity persisted for Black children, regardless of IQ, and was concentrated for children of other ethnicities when IQ was lower than 70. Conclusions. Significant racial/ethnic dispatrities exist in the recognition of ASD. For some children in some racial/ethnic groups, the presence of intellectual disability may affect professionals’ further assessment of developmental delay. Our findings suggest the need for continued professional education related to the heterogeneity of the presentation of ASD.

5. Parmeggiani A, Tedde MR, Arbizzani A, Posar A, Scaduto MC, Santucci M, Sangiorgi S. Methyl-CpG-binding Protein 2 (MECP2) Gene Mutations in an Italian Sample of Patients With Pervasive Developmental Disorder and Mental Retardation. J Child Neurol ;2009 (Feb 2)

Methyl-CpG-binding protein 2 (MECP2) gene mutations have been identified in girls with Rett syndrome and in boys with heterogeneous neuropsychiatric disorders. Because of the limited or inconsistent data reported in literature, the role of methyl-CpG-binding protein 2 gene in the pathogenesis of mental retardation and pervasive developmental disorders needs further study. We scanned methyl-CpG-binding protein 2 gene in 99 Italian patients with pervasive developmental disorder or with nonsyndromal mental retardation. Four methyl-CpG-binding protein 2 gene mutations were found : 2 in 4 girls with Rett disorder, the others in 2 girls with mental retardation. The wide phenotypic spectrum and the variants of methyl-CpG-binding protein 2 gene, which may play an important role in gene regulation and neurodevelopment, justify the literature’s interest particularly in girls.

6. Riby D, Hancock PJ. Looking at movies and cartoons : eye-tracking evidence from Williams syndrome and autism. J Intellect Disabil Res ;2009 (Feb) ;53(2):169-181.

BACKGROUND : Autism and Williams syndrome (WS) are neuro-developmental disorders associated with distinct social phenotypes. While individuals with autism show a lack of interest in socially important cues, individuals with WS often show increased interest in socially relevant information. METHODS : The current eye-tracking study explores how individuals with WS and autism preferentially attend to social scenes and movie extracts containing human actors and cartoon characters. The proportion of gaze time spent fixating on faces, bodies and the scene background was investigated. RESULTS : While individuals with autism preferentially attended to characters’ faces for less time than was typical, individuals with WS attended to the same regions for longer than typical. For individuals with autism atypical gaze behaviours extended across human actor and cartoon images or movies but for WS atypicalities were restricted to human actors. CONCLUSIONS : The reported gaze behaviours provide experimental evidence of the divergent social interests associated with autism and WS.

7. Seida JK, Ospina MB, Karkhaneh M, Hartling L, Smith V, Clark B. Systematic reviews of psychosocial interventions for autism : an umbrella review. Dev Med Child Neurol ;2009 (Feb) ;51(2):95-104.

AIM : A wide range of psychosocial interventions for the treatment of individuals with autism-spectrum disorders (ASDs) have been evaluated in systematic reviews. We conducted an umbrella review of systematic reviews of the effectiveness of psychosocial interventions for ASD. METHOD : Comprehensive searches were conducted in 25 bibliographic databases, relevant journals and reference lists up to May 2007. Studies included were systematic reviews on any psychosocial intervention for individuals with ASDs. Two reviewers independently assessed study relevance and quality. RESULTS : Thirty systematic reviews were included. The majority of reviews evaluated interventions based on behavioural theory (n=9) or communication-focused (n=7) therapies. Positive intervention outcomes were reported in the majority of the reviews. Methodological quality of the reviews was generally poor. INTERPRETATION : The reviews reported positive outcomes for many of the interventions, suggesting that some form of treatment is favourable over no treatment. However, there is little evidence for the relative effectiveness of these treatment options. Many of the systematic reviews had methodological weaknesses that make them vulnerable to bias. There is a need for further systematic reviews that adhere to strict scientific methods and for primary studies that make direct comparisons between different treatment options.

8. Stichter JP, Randolph JK, Kay D, Gage N. The Use of Structural Analysis to Develop Antecedent-based Interventions for Students with Autism. J Autism Dev Disord ;2009 (Feb 4)

Evidence continues to maintain that the use of antecedent variables (i.e., instructional practices, and environmental characteristics) increase prosocial and adaptive behaviors of students with disabilities (e.g., Kern et al. in J Appl Behav Anal 27(1):7-19, 1994 ; Stichter et al. in Behav Disord 30:401-418, 2005). This study extends the literature by systematically utilizing practitioner-implemented structural analyzes within school settings to determine antecedent variables affecting the prosocial behavior of students with autism. Optimal antecedents were combined into intervention packages and assessed utilizing a multiple baseline design across settings. All three students demonstrated improvement across all three settings. Rates of engagement and social interaction were obtained from classroom peers to serve as benchmark data. Findings indicate that practitioners can implement structural analyzes and design corresponding interventions for students with ASD within educational settings.


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