Pubmed du 13/01/09

mardi 13 janvier 2009

1. Burbach JP, van der Zwaag B. Contact in the genetics of autism and schizophrenia. Trends Neurosci ;2009 (Jan 8)

Although autism and schizophrenia are considered to be distinct neuropsychiatric developmental disorders, recent studies indicate that they share genetic factors. The same chromosomal rearrangements and several single genes have emerged as genetic risks in both disorders. One such gene is contactin-associated protein-2 (CNTNAP2). These findings raise the possibility that these neuropsychiatric disorders share pathogenic mechanisms and that similar defects in biological pathways of brain development might underlie the phenotypic spectrum of these disorders.

2. Enstrom A, Krakowiak P, Onore C, Pessah IN, Hertz-Picciotto I, Hansen RL, Van de Water JA, Ashwood P. Increased IgG4 levels in children with autism disorder. Brain Behav Immun ;2008 (Dec 25)

Accumulating evidence indicates that immune dysfunction is associated with autism disorders in a significant subset of children. Previous reports have shown abnormal immunoglobulin (Ig) levels, including an increased presence of autoreactive antibodies in the circulation of individuals with autism. As IgG is the predominant antibody isotype in circulation, we expected that an altered immune response could result in an abnormal IgG subclass profile in children with autism. We examined circulating plasma levels of IgG1, IgG2, IgG3, and IgG4 in 241 children from the CHARGE (Childhood Autism Risks from Genetics and the Environment) study, a large epidemiologic case-control investigation, including 114 children who meet full criteria for autism disorder (AU), 96 typically developing control children (TD) from a randomly selected sample of the general population, and 31 children with developmental delays (DD). We report significantly increased levels of the IgG4 subclass in children with AU compared with TD control children (p=0.016) and compared with DD controls (p=0.041). These results may suggest an underlying immunological abnormality in AU subjects resulting in elevated IgG4 production. Further investigation is necessary to elucidate the relationship between immunological findings and behavioral impairments in autism.

3. Gauthier I, Klaiman C, Schultz RT. Face composite effects reveal abnormal face processing in Autism spectrum disorders. Vision Res ;2009 (Jan 6)

Although it has been suggested that individuals with an Autism spectrum disorder (ASD) process faces less holistically than typically developing controls, there are few direct investigations of this hypothesis. This question was addressed before using the composite paradigm (Teunisse, J. P., & de Gelder, B. (2003). Face processing in adolescents with autistic disorder : The inversion and composite effects. Brain Cognition, 52(3), 285-294.). The results had revealed that adolescents with ASDs were less sensitive than controls to the misalignment of face parts and it was concluded their face processing was less holistic. However, because of shortcomings of the design, it was not possible to distinguish whether individuals with Autism processed both aligned and misaligned composites in a part-based fashion, or both in a holistic fashion. We compared adolescents with ASDs to controls matched on sex, age and IQ on a more complete version of the composite paradigm. The results indicate that individuals with ASDs, like controls, experience interference from facial features that they are told to ignore. However, while such interference is released for controls if parts of face composites are misaligned, individuals with ASDs show comparable interference from irrelevant parts regardless of alignment. Two different interpretations are discussed, both compatible with the idea that perceptual and or attentional abnormalities in ASDs result in a diminished level of expertise for faces.

4. Hermans EJ, van Wingen G, Bos PA, Putman P, van Honk J. Reduced spontaneous facial mimicry in women with autistic traits. Biol Psychol ;2008 (Dec 24)

Deficits in empathizing and perspective taking are defining characteristics of autism-spectrum disorders. Converging evidence suggests that these socio-emotional abilities are rooted in basic mechanisms that subserve imitative behavior, and may vary with autistic traits across the population as a whole. We investigated this notion by assessing spontaneous and instructed mimicry of facial expressions in healthy male and female volunteers scoring extremely high or low on the autism-spectrum quotient questionnaire. Mimicry was recorded using electromyography of the corrugator supercilii and zygomaticus major. Results show that spontaneous mimicry in the corrugator supercilii was strongest in female participants with low AQ-scores. Mimicry in the zygomaticus major, and in the instructed facial mimicry condition, did not differ between groups. These findings indicate that the degree to which individuals exhibit spontaneous mimicry may vary as a function of both gender and autistic traits.

5. Mostafa GA, Kitchener N. Serum anti-nuclear antibodies as a marker of autoimmunity in egyptian autistic children. Pediatr Neurol ;2009 (Feb) ;40(2):107-112.

Autism may involve an autoimmune pathogenesis in a subgroup of patients. The frequency of anti-nuclear antibodies in 80 autistic children and their relationship to a family history of autoimmunity were studied, compared with 80 healthy, matched children. Children with autism had a significantly higher percent seropositivity of anti-nuclear antibodies (20%) than healthy children (2.5% ; P < 0.01). Fifty percent of anti-nuclear antibody-seropositive autistic children had an anti-nuclear antibody titer of >/=1:640 (very high positive) ; 25%, >/=1:160 (high positive) ; and the remaining 25%, 1:80. All anti-nuclear antibody-seropositive healthy children had anti-nuclear antibody titers of 1:80. A family history of autoimmunity was significantly higher in autistic children (47.5%) than healthy controls (8.8% ; P < 0.001). Anti-nuclear antibody seropositivity was significantly higher in autistic children with a family history of autoimmunity than those without such history (36.8% and 5%, respectively ; P < 0.001). Anti-nuclear antibody seropositivity had significant positive associations with disease severity, mental retardation and electroencephalogram abnormalities. Autoimmunity may play a role in a subgroup of children with autism. Further studies are warranted to assess anti-nuclear antibody seropositivity, other markers of autoimmunity (e.g., brain-specific autoantibodies), and the role of immunotherapy in children with autism.

6. Patterson PH. Immune involvement in schizophrenia and autism : Etiology, pathology and animal models. Behav Brain Res ;2008 (Dec 24)

There is increasing evidence of immune involvement in both schizophrenia and autism. Of particular interest are striking abnormalities in the expression of immune-related molecules such as cytokines in the brain and cerebral spinal fluid (CSF). It is proposed that this represents a permanent state of brain immune dysregulation, which begins during early development. One possibility is that maternal infection, a known risk factor for schizophrenia and autism, sets this immune activation in motion. Several animal models are being used to investigate this hypothesis. There is also recent evidence that, among schizophrenic subjects, those associated with maternal infection display a distinctive pathology, which suggests that diverse causes for this disorder may explain some of its heterogeneity. The human and animal results related to immune involvement suggest novel therapeutic avenues based on immune interventions.

7. Smeets EE, Chenault M, Curfs LM, Schrander-Stumpel CT, Frijns JP. Rett syndrome and long-term disorder profile. Am J Med Genet A ;2009 (Jan 9)

In a cohort of 103 females clinically diagnosed with Rett syndrome (RTT), 91 had a detectable MECP2 mutation. Emphasis on details of natural history facilitated grouping of females with the same MECP2 mutation and the development of so-called disorder profiles. Some examples of disorder profiles of different recurrent MECP2 mutations are discussed. RTT females with the frequently recurrent R133C and R306C missense mutations and those with intragenic deletions in the C-terminus of MECP2 deserve more attention in larger studies as their development is different and milder in the long term. RTT females with the T158M missense mutation are often atypical with mainly behavioral characteristics in infancy and childhood but become classic RTT in adolescence after a slower, protracted course. (c) 2009 Wiley-Liss, Inc.


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