1. Allely CS. {{Pain sensitivity and observer perception of pain in individuals with autistic spectrum disorder}}. {TheScientificWorldJournal}. 2013;2013:916178.
The peer-reviewed literature investigating the relationship between pain expression and perception of pain in individuals with ASD is sparse. The aim of the present systematic PRIMSA review was twofold: first, to see what evidence there is for the widely held belief that individuals with ASD are insensitive to pain or have a high pain threshold in the peer-reviewed literature and, second, to examine whether individuals with ASD react or express pain differently. Fifteen studies investigating pain in individuals with ASD were identified. The case studies all reported pain insensitivity in individuals with ASD. However, the majority of the ten experimental studies reviewed indicate that the idea that individuals with ASD are pain insensitive needs to be challenged. The findings also highlight the strong possibility that not all children with ASD express their physical discomfort in the same way as a neurotypical child would (i.e., cry, moan, seek comfort, etc.) which may lead caregivers and the medical profession to interpret this as pain insensitivity or incorrectly lead them to believe that the child is in no pain. These results have important implications for the assessment and management of pain in children with ASD.
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2. Gorrindo P, Lane CJ, Lee EB, McLaughlin B, Levitt P. {{Enrichment of elevated plasma f2t-isoprostane levels in individuals with autism who are stratified by presence of gastrointestinal dysfunction}}. {PLoS One}. 2013;8(7):e68444.
Etiology is unknown in the majority of individuals with autism spectrum disorder (ASD). One strategy to investigate pathogenesis is to stratify this heterogeneous disorder based on a prominent phenotypic feature that enriches for homogeneity within population strata. Co-occurring gastrointestinal dysfunction (GID) characterizes a subset of children with ASD. Our current objective was to investigate a potential pathophysiological measure to test the hypothesis that children with both ASD and GID have a more severe metabolic dysfunction than children with ASD-only, given that the highly metabolically active brain and gastrointestinal system may additively contribute measurable impairment. Plasma levels of F2t-Isoprostanes (F2-IsoPs), a gold standard biomarker of oxidative stress, were measured in 87 children in four groups: ASD-GID, ASD-only, GID-only and Unaffected. F2-IsoP levels were elevated in all 3 clinical groups compared to the Unaffected group, with the ASD-GID group significantly elevated above the ASD-only group (mean, SD in pg/mg: ASD-GID 53.6, 24.4; ASD-only 36.5, 13.3; p = 0.007). Adjusting for age, sex, and triglyceride levels, F2-IsoP levels remained significantly different between study groups, with a moderate effect size of etap (2) = 0.187 (p = 0.001). Elevation in peripheral oxidative stress is consistent with, and may contribute to, the more severe functional impairments in the ASD-GID group. With unique medical, metabolic, and behavioral features in children with ASD-GID, the present findings serve as a compelling rationale for both individualized approaches to clinical care and integrated studies of biomarker enrichment in ASD subgroups that may better address the complex etiology of ASD.
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3. Joshi G, Biederman J, Petty C, Goldin RL, Furtak SL, Wozniak J. {{Examining the comorbidity of bipolar disorder and autism spectrum disorders: a large controlled analysis of phenotypic and familial correlates in a referred population of youth with bipolar I disorder with and without autism spectrum disorders}}. {The Journal of clinical psychiatry}. 2013 Jun;74(6):578-86.
OBJECTIVE: Although mood dysregulation is frequently associated with autism spectrum disorders (ASD) and autistic traits are common in youth with bipolar disorder, uncertainties remain regarding the comorbid occurrence of bipolar disorder and ASD. This study examines the clinical and familial correlates of bipolar disorder when it occurs with and without ASD comorbidity in a well-characterized, research-referred population of youth with bipolar disorder. We hypothesized that in youth with bipolar disorder, the clinical and familial correlates of bipolar disorder will be comparable irrespective of the comorbidity with ASD. METHOD: Clinical correlates and familial risk were assessed by secondary analysis of the data from a large family study of youth with bipolar I disorder (diagnosis based on DSM-IV criteria; probands n = 157, relatives n = 487; study period: November 1997-September 2002). Findings in bipolar I youth were compared with those in youth with attention-deficit/hyperactivity disorder (diagnosis based on DSM-III-R criteria) without bipolar I disorder (probands n = 162, relatives n = 511) and age- and sex-matched controls without bipolar I disorder or attention-deficit/hyperactivity disorder (probands n = 136, relatives n = 411). All subjects were comprehensively assessed using structured diagnostic interviews and a wide range of nonoverlapping measures assessing multiple dimensions of functioning. RESULTS: Thirty percent (47/155) of the bipolar I probands met criteria for ASD (diagnosis based on DSM-III-R criteria). The mean +/- SD age at onset of bipolar I disorder was significantly earlier in the presence of ASD comorbidity (4.7 +/- 2.9 vs 6.3 +/- 3.7 years; P = .01). The phenotypic and familial correlates of bipolar disorder were similar in youth with and without ASD comorbidity. CONCLUSIONS: A clinically significant minority of youth with bipolar I disorder suffers from comorbid ASD. Phenotypic and familial correlates of bipolar disorder were typical of the disorder in the presence of ASD comorbidity. Bipolar I disorder comorbidity with ASD represents a very severe psychopathologic state in youth.
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4. Kang DW, Park JG, Ilhan ZE, Wallstrom G, Labaer J, Adams JB, Krajmalnik-Brown R. {{Reduced incidence of prevotella and other fermenters in intestinal microflora of autistic children}}. {PLoS One}. 2013;8(7):e68322.
High proportions of autistic children suffer from gastrointestinal (GI) disorders, implying a link between autism and abnormalities in gut microbial functions. Increasing evidence from recent high-throughput sequencing analyses indicates that disturbances in composition and diversity of gut microbiome are associated with various disease conditions. However, microbiome-level studies on autism are limited and mostly focused on pathogenic bacteria. Therefore, here we aimed to define systemic changes in gut microbiome associated with autism and autism-related GI problems. We recruited 20 neurotypical and 20 autistic children accompanied by a survey of both autistic severity and GI symptoms. By pyrosequencing the V2/V3 regions in bacterial 16S rDNA from fecal DNA samples, we compared gut microbiomes of GI symptom-free neurotypical children with those of autistic children mostly presenting GI symptoms. Unexpectedly, the presence of autistic symptoms, rather than the severity of GI symptoms, was associated with less diverse gut microbiomes. Further, rigorous statistical tests with multiple testing corrections showed significantly lower abundances of the genera Prevotella, Coprococcus, and unclassified Veillonellaceae in autistic samples. These are intriguingly versatile carbohydrate-degrading and/or fermenting bacteria, suggesting a potential influence of unusual diet patterns observed in autistic children. However, multivariate analyses showed that autism-related changes in both overall diversity and individual genus abundances were correlated with the presence of autistic symptoms but not with their diet patterns. Taken together, autism and accompanying GI symptoms were characterized by distinct and less diverse gut microbial compositions with lower levels of Prevotella, Coprococcus, and unclassified Veillonellaceae.
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5. Levenson D. {{Location of MECP2 mutation could affect Rett syndrome progression and severity: wider role seen for key gene and protein}}. {Am J Med Genet A}. 2013 Jun;161(6):ix.
6. Lo YC, Chou TL, Fan LY, Gau SS, Chiu YN, Tseng WY. {{Altered Structure-Function Relations of Semantic Processing in Youths with High-Functioning Autism: A Combined Diffusion and Functional MRI Study}}. {Autism Res}. 2013 Jul 12.
Deficits in language and communication are among the core symptoms of autism, a common neurodevelopmental disorder with long-term impairment. Despite the striking nature of the autistic language impairment, knowledge about its corresponding alterations in the brain is still evolving. We hypothesized that the dual stream language network is altered in autism, and that this alteration could be revealed by changes in the relationships between microstructural integrity and functional activation. The study recruited 20 right-handed male youths with autism and 20 carefully matched individually, typically developing (TD) youths. Microstructural integrity of the left dorsal and left ventral pathways responsible for language processing and the functional activation of the connected brain regions were investigated by using diffusion spectrum imaging and functional magnetic resonance imaging of a semantic task, respectively. Youths with autism had significantly poorer language function, and lower functional activation in left dorsal and left ventral regions of the language network, compared with TD youths. The TD group showed a significant correlation of the functional activation of the left dorsal region with microstructural integrity of the left ventral pathway, whereas the autism group showed a significant correlation of the functional activation of the left ventral region with microstructural integrity of the left dorsal pathway, and moreover verbal comprehension index was correlated with microstructural integrity of the left ventral pathway. These altered structure-function relationships in autism suggest possible involvement of the dual pathways in supporting deficient semantic processing. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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7. Matthews NL, Goldberg WA, Lukowski AF. {{Theory of Mind in Children with Autism Spectrum Disorder: Do Siblings Matter?}}. {Autism Res}. 2013 Jul 10.
Research indicates a positive relation between the sibling constellation and theory of mind (ToM) development in typically developing (TD) children. Less is known about this association in children with autism spectrum disorder (ASD). The current study examined the association among the presence and number of siblings, birth order, and false belief (FB) understanding in children with ASD and a TD comparison group. Two FB tasks (change of contents and change of location) and the Peabody Picture Vocabulary Test were administered to 57 children with ASD and 28 TD children during a home visit. One parent of each child reported on demographics and the sibling constellation. Separate hierarchical regressions controlled for age, receptive language ability, and scores on the Social Communication Questionnaire. In children with ASD, no association was observed between presence or number of siblings and ToM. However, the presence of older (but not younger) siblings was found to be positively associated with ToM. Children with ASD who had at least one older sibling performed similarly to the TD group, whereas children with ASD who had no older siblings performed significantly worse than the TD group. These findings indicate an advantage for FB performance in children with ASD who have an older sibling. They may bear on decisions to include older siblings or peers in intervention programs and may also contribute to a more complete understanding of the origins of individual differences in ToM ability in children with ASD. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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8. Milner KM, Haslam R. {{Social skills groups training for children with autism spectrum disorders}}. {Journal of paediatrics and child health}. 2013 Jul;49(7):595-7.
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9. Sharpe MA, Gist TL, Baskin DS. {{B-lymphocytes from a population of children with autism spectrum disorder and their unaffected siblings exhibit hypersensitivity to thimerosal}}. {Journal of toxicology}. 2013;2013:801517.
The role of thimerosal containing vaccines in the development of autism spectrum disorder (ASD) has been an area of intense debate, as has the presence of mercury dental amalgams and fish ingestion by pregnant mothers. We studied the effects of thimerosal on cell proliferation and mitochondrial function from B-lymphocytes taken from individuals with autism, their nonautistic twins, and their nontwin siblings. Eleven families were examined and compared to matched controls. B-cells were grown with increasing levels of thimerosal, and various assays (LDH, XTT, DCFH, etc.) were performed to examine the effects on cellular proliferation and mitochondrial function. A subpopulation of eight individuals (4 ASD, 2 twins, and 2 siblings) from four of the families showed thimerosal hypersensitivity, whereas none of the control individuals displayed this response. The thimerosal concentration required to inhibit cell proliferation in these individuals was only 40% of controls. Cells hypersensitive to thimerosal also had higher levels of oxidative stress markers, protein carbonyls, and oxidant generation. This suggests certain individuals with a mild mitochondrial defect may be highly susceptible to mitochondrial specific toxins like the vaccine preservative thimerosal.
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10. Signorini C, De Felice C, Durand T, Oger C, Galano JM, Leoncini S, Pecorelli A, Valacchi G, Ciccoli L, Hayek J. {{Isoprostanes and 4-Hydroxy-2-nonenal: Markers or Mediators of Disease? Focus on Rett Syndrome as a Model of Autism Spectrum Disorder}}. {Oxidative medicine and cellular longevity}. 2013;2013:343824.
Lipid peroxidation, a process known to induce oxidative damage to key cellular components, has been implicated in several diseases. Following three decades of explorations mainly on in vitro models reproducible in the laboratories, lipid peroxidation has become increasingly relevant for the interpretation of a wide range of pathophysiological mechanisms in the clinical setting. This cumulative effort has led to the identification of several lipid peroxidation end-products meeting the needs of the in vivo evaluation. Among these different molecules, isoprostanes and 4-hydroxy-2-nonenal protein adducts appear to be particularly interesting. This review shows how specific oxidation products, deriving from polyunsaturated fatty acids precursors, are strictly related to the clinical manifestations and the natural history of Rett syndrome, a genetically determined neurodevelopmental pathology, currently classified among the autism spectrum disorders. In our experience, Rett syndrome offers a unique setting for physicians, biologists, and chemists to explore the borders of the lipid mediators concept.
