1. Bakian AV, Bilder DA, Carbone PS, Hunt TD, Petersen B, Rice CE. {{Brief Report: Independent Validation of Autism Spectrum Disorder Case Status in the Utah Autism and Developmental Disabilities Monitoring (ADDM) Network Site}}. {J Autism Dev Disord};2014 (Jul 15)
An independent validation was conducted of the Utah Autism and Developmental Disabilities Monitoring Network’s (UT-ADDM) classification of children with autism spectrum disorder (ASD). UT-ADDM final case status (n = 90) was compared with final case status as determined by independent external expert reviewers (EERs). Inter-rater reliability (ICC = 0.84), specificity [0.83 (95 % CI 0.74-0.90)], and sensitivity [0.99 (95 % CI 0.96-1.00)] were high for ASD case versus non-case classification between UT-ADDM and EER. At least one EER disagreed with UT-ADDM on ASD final case status on nine out of 30 records; however, all three EERs disagreed with UT-ADDM for only one record. Findings based on limited data suggest that children with ASD as identified by UT-ADDM are consistently classified as ASD cases by independent autism experts.
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2. Cohen-Silver JH, Muskat B, Ratnapalan S. {{Autism in the Emergency Department}}. {Clin Pediatr (Phila)};2014 (Jul 15)
Background. This is a retrospective chart review of autistic patients presenting to the emergency department (ED) in a tertiary care pediatric center during the year 2011. Results. There were 160 ED visits by 130 patients, 25% of visits were repeated, and 20% were admitted to the hospital. There were 126 (79%) male and 34 (21%) female patients mean age of 12 years, 79% had comorbid health conditions. Forty percent were CTAS 2 (Canadian Triage Acuity Score) acuity, 42% of visits were CTAS 3 acuity, and 7% rated their pain as « severe. » Visits were for behavior (10%), neurological concern (13%), 3% dental related, and the remainder were for gastrointestinal infections and other complaints. Average length of stay was 6 hours 21 minutes, with 2-hour wait to start assessment with physician. Conclusions. Autism is a prevalent diagnosis and patients with autism are accessing the ED. We hope to use these demographic findings to better serve these patients and their families.
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3. Falk NH, Norris K, Quinn MG. {{The Factors Predicting Stress, Anxiety and Depression in the Parents of Children with Autism}}. {J Autism Dev Disord};2014 (Jul 15)
The factors predicting stress, anxiety and depression in the parents of children with autism remain poorly understood. In this study, a cohort of 250 mothers and 229 fathers of one or more children with autism completed a questionnaire assessing reported parental mental health problems, locus of control, social support, perceived parent-child attachment, as well as autism symptom severity and perceived externalizing behaviours in the child with autism. Variables assessing parental cognitions and socioeconomic support were found to be more significant predictors of parental mental health problems than child-centric variables. A path model, describing the relationship between the dependent and independent variables, was found to be a good fit with the observed data for both mothers and fathers.
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4. Forrester GS, Pegler R, Thomas MS, Mareschal D. {{Handedness as a marker of cerebral lateralization in children with and without autism}}. {Behav Brain Res};2014 (Jul 15);268:14-21.
We employed a multiple case studies approach to investigate lateralization of hand actions in typically and atypically developing children between 4 and 5 years of age. We report on a detailed set of over 1200 hand actions made by four typically developing boys and four boys with autism. Participants were assessed for unimanual hand actions to both objects and the self (self-directed behaviors). Individual and group analyses suggest that typically developing children have a right hand dominance for hand actions to objects and a left hand dominance for hand actions for self-directed behaviors, revealing a possible dissociation for functional specialization of the left and right hemispheres respectively. Children with autism demonstrated mixed-handedness for both target conditions, consistent with the hypothesis that there is reduced cerebral specialization in these children. The findings are consistent with the view that observed lateralized motor action can serve as an indirect behavioral marker for evidence of cerebral lateralization.
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5. Freitag CM, Konrad K. {{Autism spectrum disorder: underlying neurobiology}}. {J Neural Transm};2014 (Jul 15)
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6. Kim SH, Junker D, Lord C. {{Observation of Spontaneous Expressive Language (OSEL): A New Measure for Spontaneous and Expressive Language of Children with Autism Spectrum Disorders and Other Communication Disorders}}. {J Autism Dev Disord};2014 (Jul 15)
A new language measure, the Observation of Spontaneous Expressive Language (OSEL), is intended to document spontaneous use of syntax, pragmatics, and semantics in 2-12-year-old children with Autism Spectrum Disorder (ASD) and other communication disorders with expressive language levels comparable to typical 2-5 year olds. Because the purpose of the OSEL is to provide developmental norms for use of language, the first step involves assessment of the scale’s feasibility, validity, and reliability using a sample of 180 2-5 year-old typically developing children. Pilot data from the OSEL shows strong internal consistency, high reliabilities and validity. Once replicated with a large population-based sample and in special populations, the scale should be helpful in designing appropriate interventions for children with ASD and other communication disorders.
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7. Mostafa GA, El-Sherif DF, Al-Ayadhi LY. {{Systemic auto-antibodies in children with autism}}. {J Neuroimmunol};2014 (Jul 15);272(1-2):94-98.
Autoimmunity to central nervous system may have a role in the pathogenesis of autism. A subset of anti-ds-DNA antibodies has been recently proved to be pathogenic to the brain as well as to the kidney. Due to the paucity of studies investigating the frequency of systemic auto-antibodies in autism, we are the first to investigate the frequency of anti-ds-DNA antibodies in a group of autistic children. The seropositivity of anti-nuclear antibodies (ANA) was also investigated. Serum anti-ds-DNA antibodies and ANA were measured in 100 autistic children, aged between 4 and 11years, in comparison to 100 healthy-matched children. The seropositivity of anti-ds-DNA antibodies and ANA in autistic children was 34% and 25%, respectively. In addition, 42% of autistic children were seropositive for anti-ds-DNA antibodies and/or ANA. The frequencies of anti-ds-DNA antibodies and ANA in autistic children were significantly higher than that in healthy children (4% and 2%, respectively), (P<0.001 and P<0.001, respectively). Autistic children with a family history of autoimmunity (45%) had significantly higher frequency of serum anti-ds-DNA antibodies (48.9%) than patients without such a history (21.8%), P=0.008. There was a significant positive association between the seropositivity of anti-ds-DNA antibodies and ANA (P<0.001). In conclusion, anti-ds-DNA antibodies and ANA were found in the sera of a subgroup of autistic children. However, replication studies of larger samples are warranted to validate whether these antibodies are a mere association or have a pathogenic role in some autistic children.
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8. Muth A, Honekopp J, Falter CM. {{Visuo-Spatial Performance in Autism: A Meta-analysis}}. {J Autism Dev Disord};2014 (Jul 15)
Visuo-spatial skills are believed to be enhanced in autism spectrum disorders (ASDs). This meta-analysis tests the current state of evidence for Figure Disembedding, Block Design, Mental Rotation and Navon tasks in ASD and neurotypicals. Block Design (d = 0.32) and Figure Disembedding (d = 0.26) showed superior performance for ASD with large heterogeneity that is unaccounted for. No clear differences were found for Mental Rotation. ASD samples showed a stronger local processing preference for Navon tasks (d = 0.35); less clear evidence for performance differences of a similar magnitude emerged. We discuss the meta-analysis results together with other findings relating to visuo-spatial processing and three cognitive theories of ASD: Weak Central Coherence, Enhanced Perceptual Functioning and Extreme Male Brain theory.
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9. Shimamoto C, Ohnishi T, Maekawa M, Watanabe A, Ohba H, Arai R, Iwayama Y, Hisano Y, Toyota T, Toyoshima M, Suzuki K, Nakamura K, Mori N, Shirayama Y, Owada Y, Kobayashi T, Yoshikawa T. {{Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies}}. {Hum Mol Genet};2014 (Jul 15)
Disturbances of lipid metabolism have been implicated in psychiatric illnesses. We previously reported an association between the gene for fatty acid binding protein 7 (FABP7) and schizophrenia. Furthermore, we identified and reported several rare nonsynonymous polymorphisms of the brain-expressed genes FABP3, FABP5 and FABP7 from schizophrenia and autism spectrum disorder (ASD), diseases known to part share genetic architecture. Here, we conducted further studies to better understand the contribution these genes make to the pathogenesis of schizophrenia and ASD. In postmortem brains, we detected altered mRNA expression levels of FABP5 in schizophrenia, and of FABP7 in ASD, and altered FABP5 in peripheral lymphocytes. Using a patient cohort, comprehensive mutation screening identified six missense and two frameshift variants from the three FABP genes. The two frameshift proteins, FABP3 E132fs and FABP7 N89fs, formed cellular aggregates and were unstable when expressed in cultured cells. The four missense mutants with predicted possible damaging outcomes showed no changes in intracellular localization. Examining ligand binding properties, FABP7 S86G and FABP7 V126 L lost their preference for docosahexaenoic acid to linoleic acid. Finally, mice deficient in Fabp3, Fabp5 and Fabp7 were evaluated in a systematic behavioral test battery. The Fabp3 knockout (KO) mice showed decreased social memory and novelty seeking, and Fabp7 KO mice displayed hyperactive and anxiety-related phenotypes, while Fabp5 KO mice showed no apparent phenotypes. In conclusion, disturbances in brain-expressed FABPs could represent an underlying disease mechanism in a proportion of schizophrenia and ASD sufferers.
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10. Stevenson RA, Siemann JK, Woynaroski TG, Schneider BC, Eberly HE, Camarata SM, Wallace MT. {{Evidence for Diminished Multisensory Integration in Autism Spectrum Disorders}}. {J Autism Dev Disord};2014 (Jul 15)
Individuals with autism spectrum disorders (ASD) exhibit alterations in sensory processing, including changes in the integration of information across the different sensory modalities. In the current study, we used the sound-induced flash illusion to assess multisensory integration in children with ASD and typically-developing (TD) controls. Thirty-one children with ASD and 31 age and IQ matched TD children (average age = 12 years) were presented with simple visual (i.e., flash) and auditory (i.e., beep) stimuli of varying number. In illusory conditions, a single flash was presented with 2-4 beeps. In TD children, these conditions generally result in the perception of multiple flashes, implying a perceptual fusion across vision and audition. In the present study, children with ASD were significantly less likely to perceive the illusion relative to TD controls, suggesting that multisensory integration and cross-modal binding may be weaker in some children with ASD. These results are discussed in the context of previous findings for multisensory integration in ASD and future directions for research.
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11. Strunz S, Westphal L, Ritter K, Heuser I, Dziobek I, Roepke S. {{Personality Pathology of Adults With Autism Spectrum Disorder Without Accompanying Intellectual Impairment in Comparison to Adults With Personality Disorders}}. {J Autism Dev Disord};2014 (Jul 15)
Differentiating autism spectrum disorders (ASDs) without accompanying intellectual impairment from personality disorders is often challenging. Identifying personality traits and personality pathology specific to ASD might facilitate diagnostic procedure. We recruited a sample of 59 adults with ASD without accompanying intellectual impairment, 62 individuals with narcissistic personality disorder, 80 individuals with borderline personality disorder, and 106 nonclinical controls. Personality traits, measured with the neo-personality inventory-revised (NEO-PI-R), and personality pathology, measured with the dimensional assessment of personality pathology (DAPP-BQ), were assessed. Personality traits and personality pathology specific to ASD could be identified. ASD individuals scored significantly lower on the NEO-PI-R scales extraversion and openness to experience and significantly higher on the DAPP-BQ scales inhibitedness and compulsivity relative to all other groups. Diagnostic implications are discussed.
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12. Wolff JJ, Piven J. {{Neurodevelopmental disorders: Accelerating progress in autism through developmental research}}. {Nat Rev Neurol};2014 (Jul 15)
