1. Carter SE, Hanson A, Bravey C, Kabir NA. {{How to use… an autism assessment tool}}. {Arch Dis Child Educ Pract Ed};2012 (Dec 4)
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2. Heulens I, Suttie M, Postnov A, De Clerck N, Perrotta CS, Mattina T, Faravelli F, Forzano F, Frank Kooy R, Hammond P. {{Craniofacial characteristics of fragile X syndrome in mouse and man}}. {Eur J Hum Genet};2012 (Dec 5)
For a disorder as common as fragile X syndrome, the most common hereditary form of cognitive impairment, the facial features are relatively ill defined. An elongated face and prominent ears are the most commonly accepted dysmorphic hallmarks. We analysed 3D facial photographs of 51 males and 15 females with full FMR1 mutations and 9 females with a premutation using dense-surface modelling techniques and a new technique that forms a directed graph with normalized face shapes as nodes and edges linking those with closest dysmorphism. In addition to reconfirming known features, we confirmed the occurrence of some at an earlier age than previously recorded. We also identified as yet unrecorded facial characteristics such as reduced facial depth, hypoplasticity of the nasal bone-cartilage interface and narrow mid-facial width exaggerating ear prominence. As no consistent craniofacial abnormalities had been reported in animal models, we analysed micro-CT images of the fragile X mouse model. Results indicated altered dimensions in the mandible and both outer and inner skull, with the latter potentially reflecting differences in neuroanatomy. We extrapolated the mouse results to face shape differences of the human fragile X face.European Journal of Human Genetics advance online publication, 5 December 2012; doi:10.1038/ejhg.2012.265.
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3. Kent JM, Kushner S, Ning X, Karcher K, Ness S, Aman M, Singh J, Hough D. {{Risperidone Dosing in Children and Adolescents with Autistic Disorder: A Double-Blind, Placebo-Controlled Study}}. {J Autism Dev Disord};2012 (Dec 5)
Efficacy and safety of 2 risperidone doses were evaluated in children and adolescents with autism. Patients (N = 96; 5-17 years), received risperidone (low-dose: 0.125 mg/day [20 to <45 kg], 0.175 mg/day [>45 kg] or high-dose: 1.25 mg/day [20 to <45 kg], 1.75 mg/day [>45 kg]) or placebo. Mean baseline (range 27-29) to endpoint change in Aberrant Behavior Checklist-Irritability (primary endpoint) was significantly greater in the high-dose-(-12.4 [6.5]; p < 0.001), but not low-dose (-7.4 [8.1]; p = 0.164) group, versus placebo (-3.5 [10.7]). Clinical Global Impressions-Severity and Children’s Yale-Brown Obsessive Compulsive Scale scores improved significantly only in the high-dose group, consistent with ABC-I results. Somnolence, sedation and increased appetite occurred more frequently in high-versus low-dose groups. Overall, increased appetite occurred most frequently.
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4. Sadakata T, Shinoda Y, Oka M, Sekine Y, Sato Y, Saruta C, Miwa H, Tanaka M, Itohara S, Furuichi T. {{Reduced axonal localization of a Caps2 splice variant impairs axonal release of BDNF and causes autistic-like behavior in mice}}. {Proc Natl Acad Sci U S A};2012 (Dec 3)
Ca(2)(+)-dependent activator protein for secretion 2 (CAPS2 or CADPS2) potently promotes the release of brain-derived neurotrophic factor (BDNF). A rare splicing form of CAPS2 with deletion of exon3 (dex3) was identified to be overrepresented in some patients with autism. Here, we generated Caps2-dex3 mice and verified a severe impairment in axonal Caps2-dex3 localization, contributing to a reduction in BDNF release from axons. In addition, circuit connectivity, measured by spine and interneuron density, was diminished globally. The collective effect of reduced axonal BDNF release during development was a striking and selective repertoire of deficits in social- and anxiety-related behaviors. Together, these findings represent a unique mouse model of a molecular mechanism linking BDNF-mediated coordination of brain development to autism-related behaviors and patient genotype.
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5. Stein LI, Polido JC, Najera SO, Cermak SA. {{Oral care experiences and challenges in children with autism spectrum disorders}}. {Pediatr Dent};2012;34(5):387-391.
PURPOSE: The purpose of this study was to investigate the differences between children with autism spectrum disorders (ASD) and their typically developing peers in relation to aspects of oral care. METHODS: Participants included 396 parents of ASD children or typically developing 2- to 18-year-olds. Parents completed a 37-item questionnaire designed by authors to elicit information about oral care in the home and dental office. Descriptive, bivariate, and multivariate regression analyses were conducted to examine the association between diagnostic group and oral care variables. RESULTS: Significantly more parents of ASD children than parents of typically developing children reported difficulty across almost all oral care variables explored, including oral care in the home, oral care at the dentist, and access to oral care. Following multivariate regression to control for possible confounders-including age, gender, Hispanic status, and paternal education level-all previously significant variables remained significant. CONCLUSION: This study indicates that children with autism spectrum disorders experience greater difficulties and barriers to care in both the home and dental office settings than their typically developing peers.
6. Wang SY, Parrila R, Cui Y. {{Meta-Analysis of Social Skills Interventions of Single-Case Research for Individuals with Autism Spectrum Disorders: Results from Three-Level HLM}}. {J Autism Dev Disord};2012 (Dec 5)
This meta-analysis used hierarchical linear modeling to examine 115 single-case studies with 343 participants that examined the effectiveness of social skills interventions for individuals with autism spectrum disorder (ASD). The average effect size of the included studies was 1.40 (SD = 0.43, 95 % CL = 1.32-1.48, N = 115). In the further, several common predictors including intervention length, age and gender of the participants, and study quality indicators (provision of sufficient, in-depth, and replicable information of participants, settings/materials, independent variables, and dependent variables) were not found to mediate the intervention effectiveness. Only research design that the study employed was found to impact the intervention effectiveness; the studies using multiple baseline or reversal design had larger effect sizes than studies using other designs. Implications of the results and limitations of this study are discussed.
