1. Acef S, Aubrun P. {{[Somatic care and autism: removal of barriers to reducing inequalities]}}. {Sante Publique};2010 (Sep-Oct);22(5):529-539.
Autism is a complex chronic disease that frequently results in a serious situation of inequalities in access to somatic care. The links and interactions between the different levels of vulnerability (somatic, psychological and social) associated with autism requires the deployment of joint and concerted action bearing equally on the improvement of the quality of access to care and on the coordination of the patient’s trajectory in the health system. Following the public hearing held in 2008 by the High Authority on Health on the theme of access to care for people with disability, this article presents the existing barriers and suggests clinical and organizational facilitators. The recommendations focus on improving the knowledge-base and scientific research on the subject, the evaluation and development of parental and professional skills and know-how, and the conditions necessary for reducing inequalities in access to healthcare.
2. Casanova MF, El-Baz A, Elnakib A, Switala AE, Williams EL, Williams DL, Minshew NJ, Conturo TE. {{Quantitative analysis of the shape of the corpus callosum in patients with autism and comparison individuals}}. {Autism};2011 (Mar 1)
Multiple studies suggest that the corpus callosum in patients with autism is reduced in size. This study attempts to elucidate the nature of this morphometric abnormality by analyzing the shape of this structure in 17 high-functioning patients with autism and an equal number of comparison participants matched for age, sex, IQ, and handedness. The corpus callosum was segmented from T1 weighted images acquired with a Siemens 1.5 T scanner. Transformed coordinates of the curvilinear axis were aggregated into a parametric map and compared across series to derive regions of statistical significance. Our results indicate that a reduction in size of the corpus callosum occurs over all of its subdivisions (genu, body, splenium) in patients with autism. Since the commissural fibers that traverse the different anatomical compartments of the corpus callosum originate in disparate brain regions our results suggest the presence of widely distributed cortical abnormalities in people with autism.
3. Fujita E, Dai H, Tanabe Y, Zhiling Y, Yamagata T, Miyakawa T, Tanokura M, Momoi MY, Momoi T. {{Autism spectrum disorder is related to endoplasmic reticulum stress induced by mutations in the synaptic cell adhesion molecule, CADM1}}. {Cell Death Dis};2010 (Jun);1(6):e47.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with an unknown molecular pathogenesis. A recent molecular focus has been the mutated neuroligin 3, neuroligin 3(R451C), in gain-of-function studies and for its role in induced impairment of synaptic function, but endoplasmic reticulum (ER) stress induced by mutated molecules also deserves investigation. We previously found two missense mutations, H246N and Y251S, in the gene-encoding synaptic cell adhesion molecule-1 (CADM1) in ASD patients, including cleavage of the mutated CADM1 and its intracellular accumulation. In this study, we found that the mutated CADM1 showed slightly reduced homophilic interactions in vitro but that most of its interactions persist. The mutated CADM1 also showed morphological abnormalities, including shorter dendrites, and impaired synaptogenesis in neurons. Wild-type CADM1 was partly localized to the ER of C2C5 cells, whereas mutated CADM1 mainly accumulated in the ER despite different sensitivities toward 4-phenyl butyric acid with chemical chaperone activity and rapamycin with promotion activity for degradation of the aggregated protein. Modeling analysis suggested a direct relationship between the mutations and the conformation alteration. Both mutated CADM1 and neuroligin 3(R451C) induced upregulation of C/EBP-homologous protein (CHOP), an ER stress marker, suggesting that in addition to the trafficking impairment, this CHOP upregulation may also be involved in ASD pathogenesis.
4. Levy Y, Bar-Yuda C. {{Language performance in siblings of nonverbal children with autism}}. {Autism};2011 (Mar 1)
The study focuses on language and cognitive abilities of siblings of the linguistically most affected children with autism (i.e. siblings of nonverbal children – SIBS-ANV). Twenty-eight SIBS-ANV (17 boys), ages 4-9 years, took part in the study. All children attended regular schools, and none had received a diagnosis of autism. Controls were 27 typically developing children (SIBS-TD; 16 boys) matched to the SIBS-ANV on age, family background, socioeconomic status and type of school they attended. Significant IQ differences, as well as language differences as measured on the Clinical Evaluation of Language Fundamentals (CELF), emerged between SIBS-ANV and SIBS-TD. However, differences in the language scores mostly disappeared when PIQ and FSIQ were controlled for. Furthermore, grammatical analysis of spontaneous speech samples produced in the course of testing did not reveal any significant differences between the groups. These results add to recent work suggesting that language deficits may not be part of the Broad Autism Phenotype (BAP). It further suggests that the cognitive deficit characteristic of nonverbal people with autism may be familial.
5. Newman TB, Croen LA. {{Jaundice-autism link unconvincing}}. {Pediatrics};2011 (Mar);127(3):e858-859.
6. Pietropaolo S, Guilleminot A, Martin B, D’Amato FR, Crusio WE. {{Genetic-background modulation of core and variable autistic-like symptoms in FMR1 knock-out mice}}. {PLoS One};2011;6(2):e17073.
BACKGROUND: No animal models of autism spectrum disorders (ASD) with good construct validity are currently available; using genetic models of pathologies characterized by ASD-like deficits, but with known causes, may be therefore a promising strategy. The Fmr1-KO mouse is an example of this approach, modeling Fragile X syndrome, a well-known genetic disorder presenting ASD symptoms. The Fmr1-KO is available on different genetic backgrounds (FVB versus C57BL/6), which may explain some of the conflicting results that have been obtained with these mutants up till now. METHODS: Fmr1 KO and their wild-type littermates on both the FVB and C57BL/6 genetic backgrounds were examined on a battery of tests modeling the clinical symptoms of ASD, including the triad of core symptoms (alterations in social interaction and communication, presence of repetitive behaviors), as well as the secondary symptoms (disturbances in sensori-motor reactivity and in circadian patterns of activity, epileptic events). RESULTS: Fmr1-KO mice displayed autistic-like core symptoms of altered social interaction and occurrence of repetitive behaviors with additional hyperactivity. The genetic background modulated the effects of the Fmr1 deletion and it appears that the C57BL/6 background may be more suitable for further research on core autistic-like symptoms. CONCLUSIONS: The Fmr1-mouse line does not recapitulate all of the main core and secondary ASD symptoms, but still can be useful to elucidate the neurobiological mechanisms underlying specific ASD-like endophenotypes.
7. Speirs S, Yelland G, Rinehart N, Tonge B. {{Lexical processing in individuals with high-functioning autism and Asperger’s disorder}}. {Autism};2011 (Mar 1)
The presence or absence of clinically delayed language development prior to 3 years of age is a key, but contentious, clinical feature distinguishing autism from Asperger’s disorder. The aim of this study was to examine language processing in children with high-functioning autism (HFA) and Asperger’s disorder (AD) using a task which taps lexical processing, a core language ability. Eleven individuals with HFA, 11 with AD and 11 typically developing (TD) individuals completed a masked priming task, a psycholinguistic paradigm that directly examines lexical processes. Within-group analyses revealed the AD and TD groups had intact lexical processing systems and orthographic processing of the written word. The outcomes for the HFA group were ambiguous, suggesting that their lexical processing system is either delayed or is structurally different. This suggests that fundamental differences in lexical processing exist between HFA and AD and remain evident later in development.
