1. Backer van Ommeren T, Koot HM, Scheeren AM, Begeer S. {{Reliability and Validity of the Interactive Drawing Test: A Measure of Reciprocity for Children and Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2015.
Poor reciprocity is a defining feature of an autism spectrum disorder (ASD). In the current study, we examined the reliability and validity of the Interactive Drawing Test (IDT), a new instrument to assess reciprocal behavior. The IDT was administered to children and adolescents with ASD (n = 131) and to a typically developing group (n = 62). The IDT had excellent inter-rater reliability and moderate to good test-retest reliability. The results showed clearly distinctive response patterns in the ASD group compared to the typically developing group, independent of verbal IQ and age. Convergent validity of the IDT was low. Sensitivity and the predictive accuracy of the IDT for detailed levels of reciprocal behavior in autism are discussed.
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2. Hommer RE, Swedo SE. {{Schizophrenia and Autism-Related Disorders}}. {Schizophr Bull}. 2015.
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3. Hutsler JJ, Casanova MF. {{Cortical Construction in Autism Spectrum Disorder: Columns, Connectivity and the Subplate}}. {Neuropathol Appl Neurobiol}. 2015.
The cerebral cortex undergoes protracted maturation during human development and exemplifies how biology and environment are inextricably intertwined in the construction of complex neural circuits. Autism spectrum disorders are characterized by a number of pathological changes arising from this developmental process. These include: (1) alterations to columnar structure that have significant implications for the organization of cortical circuits and connectivity; (2) alterations to synaptic spines on individual cortical units that may underlie specific types of connectional changes; and (3) alterations within the cortical subplate, a region that plays a role in proper cortical development and in regulating interregional communication in the mature brain. Although the cerebral cortex is not the only structure affected in the disorder, it is a fundamental contributor to the behaviors that characterize autism. These alterations to cortical circuitry likely underlie the behavioral phenotype in autism and contribute to the unique pattern of deficits and strengths that characterize cognitive functioning. Recent findings within the cortical subplate, may indicate that alterations to cortical construction begin prenatally, before activity dependent connections are established, and are in need of further study. A better understanding of cortical development in autism spectrum disorders will draw bridges between the microanatomical computational circuitry and the atypical behaviors that arise when that circuitry is modified. In addition, it will allow us to better exploit the constructional plasticity within the brain to design more targeted interventions that better manage atypical cortical construction and that can be applied very early in postnatal life.
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4. Kerns CM, Maddox BB, Kendall PC, Rump K, Berry L, Schultz RT, Souders MC, Bennett A, Herrington J, Miller J. {{Brief measures of anxiety in non-treatment-seeking youth with autism spectrum disorder}}. {Autism}. 2015.
This study investigated the accuracy of brief anxiety scales for non-treatment-seeking youth with autism spectrum disorder. In all, 54 youth (7-17 years; IQ: 67-158) with autism spectrum disorder and their parents completed (a) an expanded version of the Anxiety Disorders Interview Schedule-Child/Parent designed to capture typical and atypical fears and (b) brief scales of anxiety symptoms (Behavior Assessment Schedule for Children, Second Edition; Screen for Child Anxiety and Related Emotional Disorders; Negative Affective Self-Statement Questionnaire; Pediatric Anxiety Rating Scale). The results indicate that measures lacked adequate sensitivity and specificity, and the detection of atypical fears was particularly poor. Revised cut scores are offered, but refined and/or revised instruments are likely needed for research on youth with autism spectrum disorder.
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5. Pitcher MR, Herrera JA, Buffington SA, Kochukov MY, Merrit JK, Fisher AR, Schanen NC, Costa-Mattioli M, Neul JL. {{Rett Syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene}}. {Hum Mol Genet}. 2015.
Rett syndrome is a severe neurodevelopmental disorder that is usually caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). Four of the eight common disease causing mutations in MECP2 are nonsense mutations and are responsible for over 35% of all cases of RTT. A strategy to overcome disease-causing nonsense mutations is treatment with nonsense mutation suppressing drugs that allow expression of full length proteins from mutated genes with premature in-frame stop codons. To determine if this strategy is useful in RTT, we characterized a new mouse model containing a knock-in nonsense mutation (p.R255X) in the Mecp2 locus (Mecp2R255X). To determine whether the truncated gene product acts as a dominant negative allele and if RTT-like phenotypes could be rescued by expression of wild type protein, we genetically introduced an extra copy of MECP2 via a MECP2 transgene. The addition of MECP2 transgene to Mecp2R255X mice abolished the phenotypic abnormalities and resulted in near complete rescue. Expression of MECP2 transgene Mecp2R255X allele also rescued mTORC1 signaling abnormalities discovered in mice with loss of function and overexpression of Mecp2. Finally, we treated Mecp2R255X embryonic fibroblasts with the nonsense mutation suppressing drug gentamicin and we were able to induce expression of full length MeCP2 from the mutant p.R255X allele. These data provide proof of concept that the p.R255X mutation of MECP2 is amenable to the nonsense suppression therapeutic strategy and provide guidelines for the extent of rescue that can be expected by re-expressing MeCP2 protein.
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6. Pruett JR, Jr., Kandala S, Petersen SE, Povinelli DJ. {{Brief Report: Theory of Mind, Relational Reasoning, and Social Responsiveness in Children With and Without Autism: Demonstration of Feasibility for a Larger-Scale Study}}. {J Autism Dev Disord}. 2015.
Understanding the underpinnings of social responsiveness and theory of mind (ToM) will enhance our knowledge of autism spectrum disorder (ASD). We hypothesize that higher-order relational reasoning (higher-order RR: reasoning necessitating integration of relationships among multiple variables) is necessary but not sufficient for ToM, and that social responsiveness varies independently of higher-order RR. A pilot experiment tested these hypotheses in n = 17 children, 3-14, with and without ASD. No child failing 2nd-order RR passed a false belief ToM test. Contrary to prediction, Social Responsiveness Scale scores did correlate with 2nd-order RR performance, likely due to sample characteristics. It is feasible to translate this comparative cognition-inspired line of inquiry for full-scale studies of ToM, higher-order RR, and social responsiveness in ASD.
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7. Swain NR, Eadie PA, Prior MR, Reilly S. {{Assessing early communication skills at 12 months: a retrospective study of Autism Spectrum Disorder}}. {Int J Lang Commun Disord}. 2015.
BACKGROUND: Early identification of Autism Spectrum Disorder (ASD) is currently limited by the absence of reliable biological markers for the disorder, as well as the reliability of screening and assessment tools for children aged between 6 and 18 months. Ongoing research has demonstrated the importance of early social communication skills in differentiating children later diagnosed with ASD from their typically developing (TD) peers, but researchers have not yet investigated whether these differences can be detected using community-ascertained systematic observation data as early as 12 months. AIMS: To investigate whether differences in early social communication skills can be detected at 12 months of age, comparing children later diagnosed with ASD, and TD peers; and to determine whether differences remain when groupings are based on age of subsequent ASD diagnosis. METHODS & PROCEDURES: From a prospective community-ascertained sample, we collected data on children in early life, then conducted retrospective analyses for those children who were later diagnosed with ASD by the age of 7 years, compared with matched TD peers. We analysed standardized observational data of early communication skills, collected using the Communication and Symbolic Behavior Scales-Developmental Profile (CSBS-DP) Behavior Sample, when participants were 12 months of age. OUTCOMES & RESULTS: Children in the ASD group exhibited significantly lower social communication skills than the TD group, including on the Total score and Social and Symbolic Composite scores of the CSBS-DP Behavior Sample. Differences on the Total score and Social Composite were also detected for both early and late ASD diagnosis groups when compared with the TD group. CONCLUSIONS & IMPLICATIONS: These findings give further support for the importance of social communication in assessing children at risk of ASD as early as 12 months of age. Future research could evaluate the sensitivity and specificity of direct observation of these early communication skills as diagnostic indicators for ASD at 12 months, and investigate whether it is possible to distinguish between ASD and other high-risk groups (e.g. developmental delay) at this age.
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8. Wong IC, Hsia Y. {{Authors’ response to Bachmann and Hoffman’s comments on psychopharmacological prescriptions for people with autism spectrum disorder (ASD): a multinational study}}. {Psychopharmacology (Berl)}. 2015.
