1. Al-Ayadhi LY, Elamin NE. {{Camel Milk as a Potential Therapy as an Antioxidant in Autism Spectrum Disorder (ASD)}}. {Evid Based Complement Alternat Med};2013;2013:602834.
Extensive studies have demonstrated that oxidative stress plays a vital role in the pathology of several neurological diseases, including autism spectrum disorder (ASD); those studies proposed that GSH and antioxidant enzymes have a pathophysiological role in autism. Furthermore, camel milk has emerged to have potential therapeutic effects in autism. The aim of the current study was to evaluate the effect of camel milk consumption on oxidative stress biomarkers in autistic children, by measuring the plasma levels of glutathione, superoxide dismutase, and myeloperoxidase before and 2 weeks after camel milk consumption, using the ELISA technique. All measured parameters exhibited significant increase after camel milk consumption (P < 0.5). These findings suggest that camel milk could play an important role in decreasing oxidative stress by alteration of antioxidant enzymes and nonenzymatic antioxidant molecules levels, as well as the improvement of autistic behaviour as demonstrated by the improved Childhood Autism Rating Scale (CARS).
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2. Celle ME, Cuoco C, Porta S, Gimelli G, Tassano E. {{Interstitial 2q24.3 Deletion Including SCN2A and SCN3A Genes in a Patient with Autistic Features, Psychomotor Delay, Microcephaly and no History of Seizures}}. {Gene};2013 (Sep 27)
Mutations in neuronal voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A may play an important role in the etiology of neurological diseases and psychiatric disorders, besides various types of epilepsy. Here we describe a 3-year-old boy with autistic features, language delay, microcephaly and no history of seizures. Array-CGH analysis revealed an interstitial deletion of ~291.9 Kb at band 2q24.3 disrupting the entire SCN2A gene and part of SCN3A. We discuss the effects of haploinsufficiency of SCN2A and SCN3A on the genetic basis of neurodevelopmental and neurobehavioral disorders and we propose that this haploinsufficiency may be associated not only with epilepsy, but also with autistic features.
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3. Domes G, Kumbier E, Heinrichs M, Herpertz SC. {{Oxytocin Promotes Facial Emotion Recognition and Amygdala Reactivity in Adults With Asperger Syndrome}}. {Neuropsychopharmacology};2013 (Sep 26)
The neuropeptide oxytocin has recently been shown to enhance eye gaze and emotion recognition in healthy men. Here, we report a randomized double-blind, placebo-controlled trial that examined the neural and behavioral effects of a single dose of intranasal oxytocin on emotion recognition in individuals with Asperger syndrome (AS), a clinical condition characterized by impaired eye gaze and facial emotion recognition. Using functional magnetic resonance imaging, we examined whether oxytocin would enhance emotion recognition from facial sections of the eye vs. the mouth region and modulate regional activity in brain areas associated with face perception in both adults with AS, and a neurotypical control group. Intranasal administration of the neuropeptide oxytocin improved performance in a facial emotion recognition task in individuals with AS. This was linked to increased left amygdala reactivity in response to facial stimuli and increased activity in the neural network involved in social cognition. Our data suggest that the amygdala, together with functionally associated cortical areas mediate the positive effect of oxytocin on social cognitive functioning in AS.Neuropsychopharmacology accepted article preview online, 26 September 2013. doi:10.1038/npp.2013.254.
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4. Donkers FC, Schipul SE, Baranek GT, Cleary KM, Willoughby MT, Evans AM, Bulluck JC, Lovmo JE, Belger A. {{Attenuated Auditory Event-Related Potentials and Associations with Atypical Sensory Response Patterns in Children with Autism}}. {J Autism Dev Disord};2013 (Sep 27)
Neurobiological underpinnings of unusual sensory features in individuals with autism are unknown. Event-related potentials elicited by task-irrelevant sounds were used to elucidate neural correlates of auditory processing and associations with three common sensory response patterns (hyperresponsiveness; hyporesponsiveness; sensory seeking). Twenty-eight children with autism and 39 typically developing children (4-12 year-olds) completed an auditory oddball paradigm. Results revealed marginally attenuated P1 and N2 to standard tones and attenuated P3a to novel sounds in autism versus controls. Exploratory analyses suggested that within the autism group, attenuated N2 and P3a amplitudes were associated with greater sensory seeking behaviors for specific ranges of P1 responses. Findings suggest that attenuated early sensory as well as later attention-orienting neural responses to stimuli may underlie selective sensory features via complex mechanisms.
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5. Hall SS, Jiang H, Reiss AL, Greicius MD. {{Identifying Large-Scale Brain Networks in Fragile X Syndrome}}. {JAMA Psychiatry};2013 (Sep 25)
IMPORTANCE Fragile X syndrome (FXS) is an X-linked neurogenetic disorder characterized by a cognitive and behavioral phenotype resembling features of autism spectrum disorder. Until now, research has focused largely on identifying regional differences in brain structure and function between individuals with FXS and various control groups. Very little is known about the large-scale brain networks that may underlie the cognitive and behavioral symptoms of FXS. OBJECTIVE To identify large-scale, resting-state networks in FXS that differ from control individuals matched on age, IQ, and severity of behavioral and cognitive symptoms. DESIGN, SETTING, AND PARTICIPANTS Cross-sectional, in vivo neuroimaging study conducted in an academic medical center. Participants (aged 10-23 years) included 17 males and females with FXS and 16 males and females serving as controls. MAIN OUTCOMES AND MEASURES Univariate voxel-based morphometric analyses, fractional amplitude of low-frequency fluctuations (fALFF) analysis, and group-independent component analysis with dual regression. RESULTS Patients with FXS showed decreased functional connectivity in the salience, precuneus, left executive control, language, and visuospatial networks compared with controls. Decreased fALFF in the bilateral insular, precuneus, and anterior cingulate cortices also was found in patients with FXS compared with control participants. Furthermore, fALFF in the left insular cortex was significantly positively correlated with IQ in patients with FXS. Decreased gray matter density, resting-state connectivity, and fALFF converged in the left insular cortex in patients with FXS. CONCLUSIONS AND RELEVANCE Fragile X syndrome results in widespread reductions in functional connectivity across multiple cognitive and affective brain networks. Converging structural and functional abnormalities in the left insular cortex, a region also implicated in individuals diagnosed with autism spectrum disorder, suggests that insula integrity and connectivity may be compromised in FXS. This method could prove useful in establishing an imaging biomarker for FXS.
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6. Kats D, Payne L, Parlier M, Piven J. {{Prevalence of selected clinical problems in older adults with autism and intellectual disability}}. {J Neurodev Disord};2013 (Sep 25);5(1):27.
BACKGROUND: Originally described as a disorder of childhood, evidence now demonstrates the lifelong nature of autism spectrum disorder (ASD). Despite the increase of the population over age 65, older adults with ASD remain a scarcely explored subpopulation. This study set out to investigate the prevalence of clinically relevant behaviors and medical problems in a sample of US adults aged 30 to 59 with ASD and intellectual disability (ID), in comparison to those with ID only. METHODS: A cross-sectional study, with both an exploratory and replication analysis, was conducted using National Core Indicators (NCI) multi-state surveys from 2009 to 2010 and 2010 to 2011. There were 4,989 and 4,261 adults aged 30–59 with ID examined from the 2009 to 2010 and 2010 to 2011 samples, respectively. The two consecutive annual samples consisted of 438 (9%) and 298 (7%) individuals with ASD and ID. Variables were chosen from the NCI data as outcomes, including medication use for behavior problems, severe or aggressive behavior problems and selected medical conditions. RESULTS: No age-associated disparities were observed between adults with ASD and ID versus adults with ID only in either sample. For the 2009 to 2010 sample, the prevalence of support needed to manage self-injurious, disruptive and destructive behavior in subjects with ASD and ID ranged from 40 to 60%. Similarly, the prevalence estimates of self-injurious, disruptive and destructive behavior were each almost double in adults with ASD and ID relative to those with ID only. These results were replicated in the 2010 to 2011 sample. CONCLUSIONS: The findings of this study highlight the urgent need for research on the nature and treatment of severe behavior problems in the rapidly increasing population of older adults with ASD. They also suggest the importance of developing policies that expand our capacity to care for these individuals.
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7. Lee J. {{Maternal stress, well-being, and impaired sleep in mothers of children with developmental disabilities: A literature review}}. {Res Dev Disabil};2013 (Sep 27);34(11):4255-4273.
Having children with developmental disabilities (DDs) requires a high level of caregiving responsibilities, and existing studies support that mothers of children with DDs experience high levels of maternal stress as well as poor sleep and well-being. Given the fact that the number of children with DDs has increased, an up-to-date literature review is necessary to identify factors associated with maternal stress, sleep, and well-being. In addition, understanding these factors and their relationships may provide better strategies in designing effective interventions that can reduce the burden in mothers of children with DDs. This review summarized 28 scientific research papers that examined maternal stress, sleep, and well-being in mothers of children with DDs in past 12 years. The study findings indicate that mothers of children with DDs experience higher levels of stress than mothers of typically developing children, and it remains high over time. In addition, these mothers often encounter depressive symptoms as well as poor sleep quality. The study results also reveal that there is a bidirectional relationship between maternal stress and depressive symptoms as well as between poor sleep quality and depressive symptoms. For example, higher stress mothers experienced more depressive symptoms. Mothers of children with DDs with poor sleep quality are significantly associated with more depressive symptoms. Child behavior problems were significantly associated with both maternal stress and depressive symptoms, but cautious interpretation is warranted due to the shared variance between child behavior problems, maternal stress, and depressive symptoms. Methodological guidelines for future research involve the use of reliable and valid instruments for the measurement of child behavior problems, maternal stress, and sleep. Recommendations for future research are included.
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8. Ludvigsson JF, Reichenberg A, Hultman CM, Murray JA. {{A Nationwide Study of the Association Between Celiac Disease and the Risk of Autistic Spectrum Disorders}}. {JAMA Psychiatry};2013 (Sep 25)
IMPORTANCE Most case reports suggest an association between autistic spectrum disorders (ASDs) and celiac disease (CD) or positive CD serologic test results, but larger studies are contradictory. OBJECTIVE To examine the association between ASDs and CD according to small intestinal histopathologic findings. DESIGN AND SETTING Nationwide case-control study in Sweden. MAIN OUTCOMES AND MEASURES Through 28 Swedish biopsy registers, we collected data about 26 995 individuals with CD (equal to villous atrophy, Marsh stage 3), 12 304 individuals with inflammation (Marsh stages 1-2), and 3719 individuals with normal mucosa (Marsh stage 0) but positive CD serologic test results (IgA/IgG gliadin, endomysium, or tissue transglutaminase) and compared them with 213 208 age- and sex-matched controls. Conditional logistic regression estimated odds ratios (ORs) for having a prior diagnosis of an ASD according to the Swedish National Patient Register. In another analysis, we used the Cox proportional hazards regression model to estimate hazard ratios (HRs) for future ASDs in individuals undergoing small intestinal biopsy. RESULTS A prior ASD was not associated with CD (OR, 0.93; 95% CI, 0.51-1.68) or inflammation (OR 1.03; 95% CI, 0.40-2.64) but was associated with a markedly increased risk of having a normal mucosa but a positive CD serologic test result (OR, 4.57; 95% CI, 1.58-13.22). Restricting our data to individuals without a diagnosis of an ASD at the time of biopsy, CD (HR, 1.39; 95% CI, 1.13-1.71) and inflammation (HR, 2.01; 95% CI, 1.29-3.13) were both associated with moderate excess risks of later ASDs, whereas the HR for later ASDs in individuals with normal mucosa but positive CD serologic test results was 3.09 (95% CI, 1.99-4.80). CONCLUSIONS AND RELEVANCE Although this study found no association between CD or inflammation and earlier ASDs, there was a markedly increased risk of ASDs in individuals with normal mucosa but a positive CD serologic test result.
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9. Moeller S, Lau NM, Green PH, Hellberg D, Higgins JJ, Rajadhyaksha AM, Alaedini A. {{Lack of association between autism and anti-GM1 ganglioside antibody}}. {Neurology};2013 (Sep 27)
Forty of 54 children with autism were reported to have an elevated antibody response to GM1 ganglioside that correlated with disease severity.1 Antiganglioside autoantibodies, especially those directed at GM1, are known to be associated with and play a pathogenic role in some immune-mediated peripheral neuropathies.2,3 The presumed link between autism and anti-GM1 antibodies, therefore, implies that testing may identify a sizable subset of patients who would benefit from immunomodulatory therapy. To evaluate the proposed association between autism and anti-GM1 antibodies, serum samples from children diagnosed with autism by strict clinical criteria and those without autism were analyzed using a standard, validated immunoassay protocol.
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10. Muskett T, Body R. {{The case for multimodal analysis of atypical interaction: Questions, answers and gaze in play involving a child with autism}}. {Clin Linguist Phon};2013 (Sep 25)
Abstract Conversation Analysis (CA) continues to accrue interest within clinical linguistics as a methodology that can enable elucidation of structural and sequential orderliness in interactions involving participants who produce ostensibly disordered communication behaviours. However, it can be challenging to apply CA to re-examine clinical phenomena that have initially been defined in terms of linguistics, as a logical starting point for analysis may be to focus primarily on the organisation of language (« talk ») in such interactions. In this article, we argue that CA’s methodological power can only be fully exploited in this research context when a multimodal analytic orientation is adopted, where due consideration is given to participants’ co-ordinated use of multiple semiotic resources including, but not limited to, talk (e.g. gaze, embodied action, object use and so forth). To evidence this argument, a two-layered analysis of unusual question-answer sequences in a play episode involving a child with autism is presented. It is thereby demonstrated that only when the scope of enquiry is broadened to include gaze and other embodied action can an account be generated of orderliness within these sequences. This finding has important implications for CA’s application as a research methodology within clinical linguistics.
