1. Braunschweig D, Duncanson P, Boyce R, Hansen R, Ashwood P, Pessah IN, Hertz-Picciotto I, Van de Water J. {{Behavioral Correlates of Maternal Antibody Status Among Children with Autism}}. {J Autism Dev Disord};2011 (Oct 20)
Autism spectrum disorders (ASDs) affect approximately 1 in 110 children in the United States. This report profiles fetal-brain reactive autoantibodies of a large cohort of mothers of children with autism and controls, yielding significant associations between the presence of IgG reactivity to fetal brain proteins at 37 and 73 kDa and a childhood diagnosis of full autism (p = 0.0005), which also correlated with lower expressive language scores (p = 0.005). Additionally, we report on reactivity to proteins at 39 and 73 kDa, which correlated with the broader diagnosis of ASD (p = 0.0007) and increased irritability on the Aberrant Behavioral Checklist (p = 0.05). This study provides evidence of multiple patterns of reactivity to fetal brain proteins by maternal antibodies associated with ASD and specific childhood behavioral outcomes.
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2. Carmody DP, Lewis M. {{Self Representation in Children With and Without Autism Spectrum Disorders}}. {Child Psychiatry Hum Dev};2011 (Oct 20)
In order to examine the roles of mental age, social interaction, and communication in self-representation abilities, typically-developing children were compared with children with Autism Spectrum Disorders. Typically-developing children (TD, n = 66) and children with Autism Spectrum Disorders (ASD, n = 20), including subgroups of autistic disorder and pervasive developmental disorder-not otherwise specified, were assessed on self-representation ability, which was measured by mirror recognition, other-directed pretend play, and use of personal pronouns. More TD children (100%) showed mirror recognition than ASD children (55%). TD children were more likely to show other-directed pretense (80%) than the ASD group (35%). Personal pronouns were used more by TD children (83%) than by ASD children (63%). Self-representation ability appears to be underdeveloped in some children with ASD. Self-representation ability in children with ASD was related to the Social Interaction subscale of the Autism Diagnostic Observation Schedule such that greater self representation ability was associated with better Social Interaction scores, although it was not related to the Communication scores of the ADOS-G. The mental age of the children with ASD was at least 2 years; therefore, the deficits in self representation in children with ASD cannot be explained by mental age alone.
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3. Duszczyk-Budhathoki M, Olczak M, Lehner M, Majewska MD. {{Administration of Thimerosal to Infant Rats Increases Overflow of Glutamate and Aspartate in the Prefrontal Cortex: Protective Role of Dehydroepiandrosterone Sulfate}}. {Neurochem Res};2011 (Oct 21)
Thimerosal, a mercury-containing vaccine preservative, is a suspected factor in the etiology of neurodevelopmental disorders. We previously showed that its administration to infant rats causes behavioral, neurochemical and neuropathological abnormalities similar to those present in autism. Here we examined, using microdialysis, the effect of thimerosal on extracellular levels of neuroactive amino acids in the rat prefrontal cortex (PFC). Thimerosal administration (4 injections, i.m., 240 mug Hg/kg on postnatal days 7, 9, 11, 15) induced lasting changes in amino acid overflow: an increase of glutamate and aspartate accompanied by a decrease of glycine and alanine; measured 10-14 weeks after the injections. Four injections of thimerosal at a dose of 12.5 mug Hg/kg did not alter glutamate and aspartate concentrations at microdialysis time (but based on thimerosal pharmacokinetics, could have been effective soon after its injection). Application of thimerosal to the PFC in perfusion fluid evoked a rapid increase of glutamate overflow. Coadministration of the neurosteroid, dehydroepiandrosterone sulfate (DHEAS; 80 mg/kg; i.p.) prevented the thimerosal effect on glutamate and aspartate; the steroid alone had no influence on these amino acids. Coapplication of DHEAS with thimerosal in perfusion fluid also blocked the acute action of thimerosal on glutamate. In contrast, DHEAS alone reduced overflow of glycine and alanine, somewhat potentiating the thimerosal effect on these amino acids. Since excessive accumulation of extracellular glutamate is linked with excitotoxicity, our data imply that neonatal exposure to thimerosal-containing vaccines might induce excitotoxic brain injuries, leading to neurodevelopmental disorders. DHEAS may partially protect against mercurials-induced neurotoxicity.
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4. Hilton CL, Zhang Y, Whilte MR, Klohr CL, Constantino J. {{Motor Impairment in Sibling Pairs Concordant and Discordant for Autism Spectrum Disorders}}. {Autism};2011 (Oct 19)
Aim: Although motor impairment is frequently observed in children with autism spectrum disorders (ASD), the manner in which these impairments aggregate in families affected by autism is unknown. We used a standardized measure of motor proficiency to objectively examine quantitative variation in motor proficiency in sibling pairs concordant and discordant for ASD. Methods: Motor impairment of sibling pairs from 67 ASD-affected families comprising 29 concordant pairings and 48 discordant pairings were assessed using the Bruininks Oseretsky Test of Motor Proficiency, 2nd Edition, a standardized measure of motor proficiency. Results: Motor skills were substantially impaired among ASD-affected children and highly correlated with autistic severity and IQ, whereas motor skills in unaffected siblings were essentially normal. Total motor composite scores of at least one standard deviation below the general population mean were seen in 83% of the affected group compared with 6% in the unaffected siblings. Interpretation: Findings indicate that motor impairment constitutes a core characteristic of ASD (not necessarily an ASD endophenotype), which has distinct implications for taxonomy, diagnosis, and approaches to intervention.
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5. Horvath GA, Selby K, Poskitt K, Hyland K, Waters PJ, Coulter-Mackie M, Stockler-Ipsiroglu SG. {{Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin}}. {Cephalalgia};2011 (Oct 19)
Background: Serotonin has an important role in vascular resistance and blood pressure control, and a functional serotonin transporter polymorphism has been associated with migraine. Disturbances in serotonin metabolism have been associated with autism, depression, and myoclonus related conditions, but serotonin has far more functions in the body. Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura in which attacks are associated with hemiparesis. Cases: We present two siblings with hemiplegic migraine, depression, progressive spastic paraparesis, myelopathy, and spinal cord atrophy. One of the sisters presented with prolonged coma after a migraine episode. Both sisters were found to have low cerebrospinal fluid serotonin metabolite (5-hydroxyindoleacetic acid), low platelet serotonin levels, and diminished serotonin transport capacity. Their clinical symptoms improved on 5-hydroxytryptophan replacement therapy. Mutational analysis of the CACNA1A and ATP1A2 genes was negative. Conclusion: This is the first time that systemic serotonin deficiency has been described in familial hemiplegic migraine. We hypothesize that the deficiency of serotonin transport may be part of a complex cellular membrane trafficking dysfunction involving not only the serotonin transporter but also other transporters and ion channels.
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6. Hyman SL. {{Asking the right questions: Meaningful outcome measures for neurodevelopmental disorders}}. {Neurology};2011 (Oct 19)
Rett syndrome is a rare neurodevelopmental disorder affecting 1:1,000 female children. Revision of the diagnostic criteria in 2010 reflected a growing understanding of the heterogeneity of the disorder.(1) Slowed head growth in infancy, for example, is no longer a criterion for diagnosis. Classic Rett syndrome (RTT) is determined by regression of language and fine motor skills and all 4 main criteria: 1) partial or complete loss of purposeful hand skills, 2) partial or complete loss of acquired speech, 3) gait abnormalities (e.g., dyspraxic gait) or inability to walk, and 4) characteristic midline hand movements. Exclusionary criteria include brain injury such as trauma, infection, or neurometabolic disease and markedly abnormal development in the first 6 months. Atypical Rett syndrome is diagnosed when there are at least 2 of the 4 main criteria and 5 of the 11 supporting criteria categorizing the behavioral features, neuromotor findings, and physical symptoms. Abnormalities of the MECP2 gene are found in 95% of affected girls(2) with other genes contributing to infrequent subtypes. Mutations of MECP2 may be found in children with other neurodevelopmental disorders such as autism. It is likely that further phenotypic heterogeneity will be identified with increased access to molecular testing.
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7. Iwata K, Matsuzaki H, Miyachi T, Shimmura C, Suda S, Tsuchiya KJ, Matsumoto K, Suzuki K, Iwata Y, Nakamura K, Tsujii M, Sugiyama T, Sato K, Mori N. {{Investigation of the serum levels of anterior pituitary hormones in male children with autism}}. {Mol Autism};2011 (Oct 19);2(1):16.
ABSTRACT: BACKGROUND: The neurobiological basis of autism remains poorly understood. The diagnosis of autism is based solely on behavioural characteristics because there are currently no reliable biological markers. To test whether the anterior pituitary hormones and cortisol could be useful as biological markers for autism, we assessed the basal serum levels of these hormones in subjects with autism and normal controls. FINDINGS: We determined the serum levels of six anterior pituitary hormones, including adrenocorticotropic hormone and growth hormone, in 32 drug-naive male subjects with autism (age 6-18 years) and 34 healthy age- and sex-matched control subjects, using a Bio-Plex suspension array system. We also determined cortisol levels in these subjects by enzyme-linked immunosorbent assay. Serum levels of adrenocorticotropic hormone, growth hormone and cortisol were significantly higher in subjects with autism than in controls. Additionally, there was a significantly positive correlation between cortisol and adrenocorticotropic hormone levels in autism. CONCLUSION: Our results suggest that increased basal serum levels of adrenocorticotropic hormone accompanied by increased cortisol and growth hormone may be useful biological markers for autism.
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8. Kobak KA, Stone WL, Wallace E, Warren Z, Swanson A, Robson K. {{A Web-Based Tutorial for Parents of Young Children with Autism: Results from a Pilot Study}}. {Telemed J E Health};2011 (Oct 19)
Abstract Objective: Early intervention can significantly improve long-term outcomes for children with autism. Unfortunately, many children do not receive early intervention services due to a critical shortage of trained professionals in this area. To bridge this gap, we evaluated a Web-based parent training tutorial (Enhancing Interactions), based on evidence-based practices and utilizing the Web-based platform to maximize learning. Methods: Twenty-three parents with a child between 18 months and 6 years with an autism spectrum disorder participated. Pre- and posttest scores of parents’ knowledge were used to evaluate tutorial effectiveness. The system usability scale (SUS) evaluated technical user-friendliness and the user satisfaction questionnaire (USQ), gauged satisfaction with content. Results: The mean number of correct items on the posttest significantly increased, from 12.6 to 20.4, p<0.001. The mean SUS score was 85 (standard deviation=17), corresponding to a score of « excellent. » All participants found the tutorial user friendly, well integrated, and 96% (all but one participant) thought it was easy to use, felt confident using the technical features, and would use a tutorial like this again. On the USQ, all participants found that the tutorial was well organized, clearly presented, and easy to understand; that it increased their knowledge about communicating with their child; and that they felt capable of applying these techniques with their child. Conclusions: The tutorial appears effective in increasing parents’ knowledge with high user satisfaction.
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9. Maenner MJ, Arneson CL, Levy SE, Kirby RS, Nicholas JS, Durkin MS. {{Brief Report: Association Between Behavioral Features and Gastrointestinal Problems Among Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2011 (Oct 20)
Recent reports suggest certain behaviors among children with autism spectrum disorders (ASD) may indicate underlying gastro-intestinal (GI) problems, and that the presence of these behaviors may help alert primary care providers to the need to evaluate a child with ASD for GI problems. The purpose of this population-based study of 487 children with ASD, including 35 (7.2%) with a medically documented history of GI problems, was to compare behavioral features of children with and without a history of GI problems. Unusual sleeping or eating habits and oppositional behavior were significantly associated with GI problems. These behaviors, however, were frequent in both children with and without GI problems, suggesting they may have limited utility in a screening capacity for GI problems.
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10. Maister L, Plaisted-Grant KC. {{Time perception and its relationship to memory in Autism Spectrum Conditions}}. {Dev Sci};2011 (Nov);14(6):1311-1322.
Timing is essential for the development of cognitive skills known to be impaired in Autism Spectrum Conditions (ASC), such as social cognition and episodic memory abilities. Despite the proposal that timing impairments may underpin core features of ASC, few studies have examined temporal processing in ASC and they have produced conflicting results. The present study first addressed discrepancies between previous experiments before testing the assumption that timing impairments may underpin key aspects of autism, by relating differences in temporal processing in the ASC group to memory abilities. Errors in duration reproduction in high functioning children with ASC were observed for the shortest and longest duration tested. While the former was due to attentional factors, the latter was due to deficient timing related to atypical episodic memory processing. These findings suggest that temporal processing abilities play a key role in the poor development of both social cognition and episodic memory abilities associated with ASC.
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11. Naigles LR, Kelty E, Jaffery R, Fein D. {{Abstractness and continuity in the syntactic development of young children with autism}}. {Autism Res};2011 (Oct 19)
Grammar is frequently considered to be a strength in the cognitive profile of individuals with autism spectrum disorders (ASDs); however, few studies have investigated how abstract (i.e. distinct from specific lexical items) is the grammatical knowledge of individuals with ASD. In this study, we examine the extent to which children with ASD have abstracted the transitive (SVO) frame in English. Participants in a longitudinal study of language acquisition in children with autism (17 children with ASD averaging 41 months of age, 18 TD children averaging 28 months of age) were taught two novel verbs in transitive sentences and asked (via intermodal preferential looking) whether these verbs mapped onto novel causative vs. noncausative actions. Both groups consistently mapped the verbs onto the causative actions (i.e. they engaged in syntactic bootstrapping). Moreover, the children with ASD’s performance on this task was significantly and independently predicted by both vocabulary and sentence-processing measures obtained 8 months earlier. We conclude that many children with ASD are able to generalize grammatical patterns, and this ability may derive from earlier lexical and grammatical knowledge. Autism Res 2011,4:xxx-xxx. (c) 2011 International Society for Autism Research, Wiley Periodicals, Inc.
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12. Welberg L. {{Neurodevelopmental disorders: Mice that mirror autism}}. {Nat Rev Neurosci};2011;12(11):615.
