1. Bruder MB, Kerins G, Mazzarella C, Sims J, Stein N. {{Brief Report: The Medical Care of Adults with Autism Spectrum Disorders: Identifying the Needs}}. {J Autism Dev Disord};2012 (Mar 17)
There is a lack of information concerning adults with autism spectrum disorder (ASD), especially with regards to their access to health care. A paper and electronic survey was sent to 1,580 primary care physicians in Connecticut. 346 respondents returned a survey and provided care to adults with an ASD. This physician survey provides data on adults with ASD such as: reasons for physician visits, living arrangements, employment status, and any services they are receiving. Responses revealed inadequate training in the care of adults with an ASD and physicians interest in obtaining additional training. The ability to provide a medical home for adults with autism will need to address effective strategies to train current and future physicians.
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2. Chevallier C, Kohls G, Troiani V, Brodkin ES, Schultz RT. {{The social motivation theory of autism}}. {Trends Cogn Sci};2012 (Mar 17)
The idea that social motivation deficits play a central role in Autism Spectrum Disorders (ASD) has recently gained increased interest. This constitutes a shift in autism research, which has traditionally focused more intensely on cognitive impairments, such as theory-of-mind deficits or executive dysfunction, and has granted comparatively less attention to motivational factors. This review delineates the concept of social motivation and capitalizes on recent findings in several research areas to provide an integrated account of social motivation at the behavioral, biological and evolutionary levels. We conclude that ASD can be construed as an extreme case of diminished social motivation and, as such, provides a powerful model to understand humans’ intrinsic drive to seek acceptance and avoid rejection.
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3. Derecki NC, Cronk JC, Lu Z, Xu E, Abbott SB, Guyenet PG, Kipnis J. {{Wild-type microglia arrest pathology in a mouse model of Rett syndrome}}. {Nature};2012 (Mar 18)
Rett syndrome is an X-linked autism spectrum disorder. The disease is characterized in most cases by mutation of the MECP2 gene, which encodes a methyl-CpG-binding protein. Although MECP2 is expressed in many tissues, the disease is generally attributed to a primary neuronal dysfunction. However, as shown recently, glia, specifically astrocytes, also contribute to Rett pathophysiology. Here we examine the role of another form of glia, microglia, in a murine model of Rett syndrome. Transplantation of wild-type bone marrow into irradiation-conditioned Mecp2-null hosts resulted in engraftment of brain parenchyma by bone-marrow-derived myeloid cells of microglial phenotype, and arrest of disease development. However, when cranial irradiation was blocked by lead shield, and microglial engraftment was prevented, disease was not arrested. Similarly, targeted expression of MECP2 in myeloid cells, driven by Lysm(cre) on an Mecp2-null background, markedly attenuated disease symptoms. Thus, through multiple approaches, wild-type Mecp2-expressing microglia within the context of an Mecp2-null male mouse arrested numerous facets of disease pathology: lifespan was increased, breathing patterns were normalized, apnoeas were reduced, body weight was increased to near that of wild type, and locomotor activity was improved. Mecp2(+/-) females also showed significant improvements as a result of wild-type microglial engraftment. These benefits mediated by wild-type microglia, however, were diminished when phagocytic activity was inhibited pharmacologically by using annexin V to block phosphatydilserine residues on apoptotic targets, thus preventing recognition and engulfment by tissue-resident phagocytes. These results suggest the importance of microglial phagocytic activity in Rett syndrome. Our data implicate microglia as major players in the pathophysiology of this devastating disorder, and suggest that bone marrow transplantation might offer a feasible therapeutic approach for it.
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4. Golubchik P, Sever J, Katz N, Shoval G, Weizman A. {{Handshaking as a measure of social responsiveness in patients with autistic spectrum disorder}}. {Compr Psychiatry};2012 (Mar 16)
BACKGROUND: Children with autistic spectrum disorder (ASD) have difficulties understanding and using nonverbal communication. Handshaking is an expressive gesture that requires adequate skills for social interaction and, because of its highly emotional characteristic for patients with ASD, may reflect their ability for social responsiveness. Unlike eye contact or complex social behavior, this gesture has not been studied in the past. We developed a rating scale intended to evaluate social responsiveness through handshaking, in patients with ASD. METHOD: A group of patients with ASD (n = 20), aged 9 to 18 years, was compared with 2 age-matched groups, one of patients with attention deficit/hyperactivity disorder (n = 20) and the other is of patients with mild (IQ, 55-70) mental retardation (n = 20). To rate the handshaking behavior, we designed a Handshaking Assessment Scale (HAS) that includes 8 Yes/No items. The predefined cutoff point was a minimum of 4 « Yes » answers. RESULTS: Significantly more patients with ASD (13/20) had abnormal HAS (Yes answers, >/=4) than either in the attention deficit/hyperactivity disorder group (1/20; P < .0001) or in the mental retardation group (5/20; P < .025). CONCLUSION: There seems to be a strong association between poor handshaking skills and autistic psychopathology, as compared with the 2 control groups. As was demonstrated by the brief and easy-to-administer HAS assessment tool, it may be advisable to use handshaking more widely as a diagnostic procedure for ASD or include it in larger diagnostic batteries. Large-scale studies are needed to substantiate our observation.
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5. Ipser JC, Syal S, Bentley J, Adnams CM, Steyn B, Stein DJ. {{1H-MRS in autism spectrum disorders: a systematic meta-analysis}}. {Metab Brain Dis};2012 (Mar 18)
We conducted a systematic review and meta-analysis of proton magnetic resonance spectroscopy (1H-MRS) studies comparing autism spectrum disorder (ASD) patients with healthy controls, with the aim of profiling ASD-associated changes in the metabolites N-acetyl-aspartate (NAA) and Creatine (Cr). Meta-regression models of NAA and Cr levels were employed, using data from 20 eligible studies (N = 852), to investigate age-dependent differences in both global brain and region-specific metabolite levels, while controlling for measurement method (Cr-ratio versus absolute concentrations). Decreased NAA concentrations that were specific to children were found for whole-brain grey and white matter. In addition, a significant decrease in NAA was evident across age categories in the parietal cortex, the cerebellum, and the anterior cingulate cortex. Higher levels of Cr were observed for ASD adults than children in global grey matter, with specific increases for adults in the temporal lobe and decreased Cr in the occipital lobe in children. No differences were found for either NAA or Cr in the frontal lobes. These data provide some evidence that ASD is characterized by age-dependent fluctuations in metabolite levels across the whole brain and at the level of specific regions thought to underlie ASD-associated behavioural and affective deficits. Differences in Cr as a function of age and brain region suggests caution in the interpretation of Cr-based ratio measures of metabolites. Despite efforts to control for sources of heterogeneity, considerable variability in metabolite levels was observed in frontal and temporal regions, warranting further investigation.
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6. Miu AC, Pana SE, Avram J. {{Emotional face processing in neurotypicals with autistic traits: Implications for the broad autism phenotype}}. {Psychiatry Res};2012 (Mar 15)
The present study investigated emotional face processing in neurotypicals selected for autistic traits (AT). Participants (N=81), who obtained scores one standard deviation above or below average on the Autism Spectrum Quotient, were tested using observational fear conditioning (FC), a face version of the attention probe task, and « Reading the Mind in the Eyes » test. The results indicated that high AT participants displayed enhanced observational FC, no attentional bias to fearful faces, and increased latency (but normal accuracy) to recognizing the mental state of another. To a certain extent, this pattern resembles the social-emotional phenotype that was previously described in autism spectrum disorders. Therefore, these results may contribute to the broad autism phenotype perspective.
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7. Scattone D, Raggio DJ, May W. {{Brief Report: Concurrent Validity of the Leiter-R and KBIT-2 Scales of Nonverbal Intelligence for Children with Autism and Language Impairments}}. {J Autism Dev Disord};2012 (Mar 20)
The concurrent validity of the KBIT-2 Nonverbal IQ and Leiter-R Brief IQ was evaluated for two groups of children: those with high functioning autism and those with language impairments without autism. Fifty-three children between the ages of 4 and 13 years of age participated in the study. The correlation between the scales was large (r = .62) and no statistical difference was found between the means. However, large intraindividual differences were found for 11 children who received scores at least 10 points higher on the Leiter-R Brief IQ, 5 of those scored beyond 20 points higher than nonverbal scores on the KBIT-2. Conversely, 11 children scored at least 10 points higher on the KBIT-2 than on the Leiter-R with 4 of those scoring 20 points higher. These findings highlight the importance of using multiple measures when assessing individuals with autism or language disorders.
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8. Tostes MH, Teixeira HC, Gattaz WF, Brandao MA, Raposo NR. {{Altered Neurotrophin, Neuropeptide, Cytokines and Nitric Oxide Levels in Autism}}. {Pharmacopsychiatry};2012 (Mar 16)
Modifications in neurotrophins, neuropeptides, cytokines and nitric oxide (NO) levels in autism may represent different biological aspects of the disease. In the present study we investigate simultaneously all these variables as an attempt to clarify their interrelationships in autism.Plasma levels of vasoactive intestinal peptide (VIP), neurotrophin-3 (NT-3), cytokines and nitric oxide (NO) were determined in children with DSM-IV autistic disorder (n=24) and in age- and gender-matched healthy controls (n=24). VIP, NT-3, IFN-gamma and IL-1beta levels were measured by ELISA, TNF-alpha, IL-10, IL-6, IL-4, IL-2 were evaluated by flow cytometry, and NO by Griess reaction.Plasma levels of VIP, IFN-gamma and NO were significantly higher and NT-3 plasma levels were significantly lower in children with autism, compared to the healthy subjects. In children with autism there was a positive correlation between plasma levels of NO and IFN-gamma.Our results indicate the presence of altered levels of neurotrophin and neuropeptide in infantile autism and provide additional evidence that higher levels of IFN-gamma may be associated with increased oxidative stress in autism.
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9. Venkat A, Jauch E, Russell WS, Crist CR, Farrell R. {{Care of the patient with an autism spectrum disorder by the general physician}}. {Postgrad Med J};2012 (Mar 16)
Autism spectrum disorders (ASD), comprising classic autism, Asperger syndrome, Rett syndrome, childhood disintegrative disorder and pervasive development disorder-not otherwise specified, represent complex neurodevelopmental conditions characterised by impaired social interactions, difficulties with communication and repetitive, stereotyped behaviours. It is estimated that up to 1% of the general population may be affected by an ASD. Whether due to improved diagnostic techniques or a true rise in incidence, the prevalence of patients with ASD is rising, and these individuals are increasingly encountered in a variety of healthcare settings. Care givers of patients with an ASD report frequently that lack of awareness of the complications of these disorders and the method of appropriately assessing these individuals impair the effective delivery of healthcare to this patient population. It is now clear that patients with an ASD, in addition to the defining characteristics of these disorders, can present to the outpatient, emergency department and inpatient settings with a variety of psychiatric, neurological, gastrointestinal, nutritional/metabolic, dental, ophthalmological, cardiovascular, gynaecological, traumatic and musculoskeletal conditions that can require acute intervention. In addition, the common treatments given to patients with an ASD may result in side effects and complications that may require acute intervention. For physicians who encounter patients with an ASD, the combination of impaired social interactions, difficulties with communication and stereotyped behaviours creates an additional barrier to diagnosis and treatment of these individuals. Careful preparation of the examination environment, direct engagement of care givers and the patient and the use of communication techniques and pharmacological adjuncts can aid physicians in treating the patient with an ASD in the outpatient, emergency department and inpatient settings.
