1. Beacher FD, Minati L, Baron-Cohen S, Lombardo MV, Lai MC, Gray MA, Harrison NA, Critchley HD. {{Autism Attenuates Sex Differences in Brain Structure: A Combined Voxel-Based Morphometry and Diffusion Tensor Imaging Study}}. {AJNR Am J Neuroradiol};2011 (Dec 15)
BACKGROUND AND PURPOSE:It has been proposed that autism spectrums condition may represent a form of extreme male brain (EMB), a notion supported by psychometric, behavioral, and endocrine evidence. Yet, limited data are presently available evaluating this hypothesis in terms of neuroanatomy. Here, we investigated sex-related anatomic features in adults with AS, a « pure » form of autism not involving major developmental delay.MATERIALS AND METHODS:Males and females with AS and healthy controls (n = 28 and 30, respectively) were recruited. Structural MR imaging was performed to measure overall gray and white matter volume and to assess regional effects by means of VBM. DTI was used to investigate the integrity of the main white matter tracts.RESULTS:Significant interactions were found between sex and diagnosis in total white matter volume, regional gray matter volume in the right parietal operculum, and fractional anisotropy (FA) in the body of the CC, cingulum, and CR. Post hoc comparisons indicated that the typical sexual dimorphism found in controls, whereby males have larger FA and total white matter volume, was absent or attenuated in participants with AS.CONCLUSIONS:Our results point to a fundamental role of the factors that underlie sex-specific brain differentiation in the etiology of autism.
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2. Clarke CE. {{A case of conflicting norms? Mobilizing and accountability information in newspaper coverage of the autism-vaccine controversy}}. {Public Underst Sci};2011 (Sep);20(5):609-626.
When reporting health risks, the news media are often criticized for omitting « mobilizing » information that allows readers to act on existing attitudes. Using American and British newspaper coverage of the autism-vaccine controversy as a case study, this article takes a « behind the scenes » look at normative pressures that may influence whether such information appears in coverage. In particular, can holding health officials accountable for their actions potentially « crowd out » mobilizing information? A content analysis suggests that mobilizing information (at least one of four examples) was present in only 16% of articles, compared to 38% that mentioned accountability messages (at least one of two examples). US newspapers were significantly more likely to mention at least one mobilization example. Finally, although only 11% discussed both, articles were more likely to discuss certain mobilizing and accountability examples together. Implications for journalism ethics and vaccine risk communication are discussed.
3. Frazier TW, Shattuck PT, Narendorf SC, Cooper BP, Wagner M, Spitznagel EL. {{Prevalence and Correlates of Psychotropic Medication Use in Adolescents with an Autism Spectrum Disorder with and without Caregiver-Reported Attention-Deficit/Hyperactivity Disorder}}. {J Child Adolesc Psychopharmacol};2011 (Dec 13)
Abstract Background: Many youths with an autism spectrum disorder (ASD) benefit from psychotropic medication treatment of co-morbid symptom patterns consistent with attention-deficit/hyperactivity disorder (ADHD). The lack of clear indications and algorithms to direct clinical practice has led to a very poor understanding of overall medication use for these youths. The present study examined the prevalence of psychotropic medication use compared across individuals with an ASD without a caregiver-reported ADHD diagnosis (ASD-only), ADHD without ASD (ADHD-only), and an ASD with co-morbid ADHD (ASD+ADHD). Correlates of medication use were also examined. Methods: Data on psychotropic medication from the first wave of the National Longitudinal Transition Study 2, a nationally representative study of adolescents ages 13-17 in special education, were used to compare the prevalence of medication use across the three groups, overall and by class. Separate logistic regression models were constructed for each group to examine the correlates of psychotropic medication use. Poisson regression models were used to examine correlates of the number of medications. Results: Youths with ASD+ADHD had the highest rates of use (58.2%), followed by youths with ADHD-only (49.0%) and youths with ASD-only (34.3%). Youths with an ASD, both ASD-only and ASD+ADHD, used medications across a variety of medication classes, whereas stimulants were dominant among youths with ADHD-only. African American youths with ASD-only and with ASD+ADHD were less likely to receive medication than white youths, whereas race was not associated with medication use in the ADHD-only group. Conclusions: Clearer practice parameters for ADHD have likely contributed to more consistency in treatment, whereas treatment for ASD reflects a trial and error approach based on associated symptom patterns. Additional studies examining the treatment of core and associated ASD symptoms are needed to guide pharmacologic treatment of these youths. Interventions targeting African American youths with ASD and the physicians who serve them are also warranted.
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4. Gulhan Ercan-Sencicek A, Davis Wright NR, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Einar Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL. {{Searching for Potocki-Lupski syndrome phenotype: A patient with language impairment and no autism}}. {Brain Dev};2011 (Dec 15)
Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he does not possess any autistic features, but is characterized by severe speech and language impairment. In the context of the analyses of this patient and other cases of PTLS, we argue that the central feature of the syndrome appears to be related to diminished speech and language capacity, rather than the specific social deficits central to autism.
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5. Hiramoto T, Kang G, Suzuki G, Satoh Y, Kucherlapati R, Watanabe Y, Hiroi N. {{Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model}}. {Hum Mol Genet};2011 (Dec 15);20(24):4775-4785.
Although twin studies indicate clear genetic bases of autism spectrum disorder (ASD), the precise mechanisms through which genetic variations causally result in ASD are poorly understood. Individuals with 3 Mb and nested 1.5 Mb hemizygosity of the chromosome 22q11.2 represent genetically identifiable cases of ASD. However, because more than 30 genes are deleted even in the minimal deletion cases of 22q11.2 deficiency, the individual 22q11.2 gene(s) responsible for ASD remain elusive. Here, we examined the impact of constitutive heterozygosity of Tbx1, a 22q11.2 gene, on the behavioral phenotypes of ASD and characterized the regional and cellular expression of its mRNA and protein in mice. Congenic Tbx1 heterozygous (HT) mice were impaired in social interaction, ultrasonic vocalization, memory-based behavioral alternation, working memory and thigmotaxis, compared with wild-type (WT) mice. These phenotypes were not due to non-specific alterations in olfactory function, exploratory behavior, motor movement or anxiety-related behavior. Tbx1 mRNA and protein were ubiquitously expressed throughout the brains of C57BL/6J mice, but protein expression was enriched in regions that postnatally retain the capacity of neurogenesis, and in fact, postnatally proliferating cells expressed Tbx1. In postnatally derived hippocampal culture cells of C57BL/6J mice, Tbx1 levels were higher during proliferation than during differentiation, and expressed in neural progenitor cells, immature and matured neurons and glial cells. Taken together, our data suggest that Tbx1 is a gene responsible for the phenotypes of 22q11.2 hemizygosity-associated ASD possibly through its role in diverse cell types, including postnatally and prenatally generated neurons.
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6. Kern JK, Fletcher CL, Garver CR, Mehta JA, Grannemann BD, Knox KR, Richardson TA, Trivedi MH. {{Prospective trial of equine-assisted activities in autism spectrum disorder}}. {Altern Ther Health Med};2011 (May-Jun);17(3):14-20.
BACKGROUND: Anecdotal reports and some studies suggest that equine-assisted activities may be beneficial in autism spectrum disorders (ASD). OBJECTIVE: To examine the effects ofequine-assisted activities on overall severity of autism symptoms using the Childhood Autism Rating Scale (CARS) and the quality ofparent-child interactions using the Timberlawn Parent-Child Interaction Scale. In addition, this study examined changes in sensory processing, quality of life, and parental treatment satisfaction. DESIGN AND PARTICIPANTS: Children with ASD were evaluated at four time points: (1) before beginning a 3-to-6 month waiting period, (2) before starting the riding treatment, and (3) after 3 months and (4) 6 months of riding. Twenty-four participants completed the waiting list period and began the riding program, and 20 participants completed the entire 6 months of riding. Pretreatment was compared to posttreatment with each child acting as his or her own control. RESULTS: A reduction in the severity of autism symptoms occurred with the therapeutic riding treatment. There was no change in CARS scores during the pretreatment baseline period; however, there was a significant decrease after treatment at 3 months and 6 months of riding. The Timberlawn Parent-Child Interaction Scale showed a significant improvement in Mood and Tone at 3 months and 6 months of riding and a marginal improvement in the reduction of Negative Regard at 6 months of riding. The parent-rated quality of life measure showed improvement, including the pretreatment waiting period. All of the ratings in the Treatment Satisfaction Survey were between good and very good. CONCLUSION: These results suggest that children with ASD benefit from equine-assisted activities.
7. Ladha S. {{Getting to the bottom of autism spectrum and related disorders: MBD5 as a key contributor}}. {Clin Genet};2011 (Dec 15)
References: 1. Talkowski ME, Mullegama SV, Rosenfeld JA et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. American Journal of Human Genetics 2011: 89, 551-563. 2. van Bon BW, Koolen DA, Brueton L et al. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur. J. Hum. Genet. 2010: 18, 163-1703. 3. Laget S, Joulie M, Le Masson F, et al. The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA. PLoS ONE 2010: 5, e11982. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder Talkowski ME, Mullegama SV, Rosenfeld JA et al. American Journal of Human Genetics 2011: 89, 551-563.
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8. Mueller S, Keeser D, Reiser MF, Teipel S, Meindl T. {{Functional and Structural MR Imaging in Neuropsychiatric Disorders, Part 2: Application in Schizophrenia and Autism}}. {AJNR Am J Neuroradiol};2011 (Dec 15)
SUMMARY:During the past decade, the application of advanced MR imaging techniques in neuropsychiatric disorders has seen a rapid increase. Disease-specific alterations in brain function can be assessed by fMRI. Structural GM and WM properties are increasingly investigated by DTI and voxel-based approaches like VBM. These methods provide neurobiologic correlates for brain architecture and function, evaluation tools for therapeutic approaches, and potential early markers for diagnosis. Having provided insight into principles of functional and structural imaging and delineated common findings in mild cognitive impairment and Alzheimer disease in Part 1 of this review, we will now focus on autism and schizophrenia as common psychiatric disorders covering different stages of the life span. This review concludes by summarizing current applications, limitations, and future prospects in the field of MR imaging-based neuroimaging.
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9. Smith LE, Seltzer MM, Greenberg JS. {{Daily Health Symptoms of Mothers of Adolescents and Adults with Fragile X Syndrome and Mothers of Adolescents and Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2011 (Dec 14)
Health symptoms of mothers of adolescents and adults with fragile X syndrome (FXS; n = 112) were compared to a nationally-representative sample of mothers of similarly-aged children without disabilities (n = 230) as well as to a sample of mothers of adolescents and adults with autism spectrum disorders (ASD; n = 96). Health symptoms experienced in the previous 24 h were recorded during 8 consecutive days of a daily diary study. Both mothers of a son or daughter with FXS and mothers of a son or daughter with ASD had a higher proportion of days with headaches, backaches, muscle soreness, fatigue, and hot flashes than mothers of children without disabilities. Mothers of children with disabilities appear to be at particular risk for health problems, highlighting a need for comprehensive services for families across the lifespan.
