1. Diaz-Anzaldua A, Diaz-Martinez A. {{[Genetic, environmental, and epigenetic contribution to the susceptibility to autism spectrum disorders]}}. {Rev Neurol};2013 (Dec 16);57(12):556-568.
INTRODUCTION. Autism spectrum disorders (ASD) are common and complex neuropsychiatric disorders in which multiple factors may contribute to the phenotype. AIM. To review current knowledge about possible risk factors for ASD. DEVELOPMENT. Medline, OMIM and Ensembl databases were searched for possible risk factors, disease and gene information. CONCLUSIONS. There is genetic heterogeneity and probably different modes of transmission in ASD. In addition, many cases are related with non-inherited de novo mutations or uncommon alleles with a large effect. The general heritability in these disorders may be lower than previously reported. Some fraction of it may be explained by relatively common alleles that tend to have a small effect. To some extent, susceptibility alleles may have a different influence on the phenotype depending on other genetic or non-genetic factors. Non-genetic factors in the perinatal and postnatal period, including epigenetics, the age of the father and possibly the age of grandparents at conception may be relevant for ASD. The mechanisms involved in the etiology of ASD may be related with synaptic development and connectivity, neurotransmission, signaling, neuroplasticity, and gene expression. Different methods have contributed to understand the etiology of ASD. Linkage and association studies are not appropriate for ASD cases with de novo mutations with a strong effect. The observed increase in ASD prevalence may be related not only with more awareness, changing diagnostic criteria, and environmental exposures, but also with epigenetic changes, and an increasing number of de novo mutations.
2. Huang CY, Yen HC, Tseng MH, Tung LC, Chen YD, Chen KL. {{Impacts of Autistic Behaviors, Emotional and Behavioral Problems on Parenting Stress in Caregivers of Children with Autism}}. {J Autism Dev Disord};2013 (Nov 28)
This study examined the effects of autistic behaviors and individual emotional and behavioral problems on parenting stress in caregivers of children with autism. Caregivers were interviewed with the Childhood Autism Rating Scale and completed the Strength and Difficulties Questionnaire and the Parenting Stress Index Short Form. Results revealed that caregivers of children with mild/moderate autistic behavior problems perceived lower parenting stress than did those of children with no or severe problems. In addition, prosocial behaviors and conduct problems respectively predicted stress in the parent-child relationship and child-related stress. The findings can provide guidance in evaluations and interventions with a focus on mitigating parenting stress in caregivers of children with autism.
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3. Myers CL, Gross AD, McReynolds BM. {{Broadband Behavior Rating Scales as Screeners for Autism?}}. {J Autism Dev Disord};2013 (Nov 28)
In order to start providing important early intervention services to preschoolers and toddlers with autism, those children first need to be identified. Despite the availability of specialized autism assessment instruments, there is a need for effective screeners at the early childhood level. Three broadband behavior rating scales were evaluated in this study to determine if any of the scales on the instruments could adequately distinguish between children with autism from other clinically referred children. There were four scales from two instruments that resulted in mean scores outside the average range and had statistically significant differences. However, the small mean score differences and analyses of sensitivity and specificity suggest those scales have limited practical usefulness when used by clinicians.
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4. Oi M, Tanaka S, Ohoka H. {{The Relationship between Comprehension of Figurative Language by Japanese Children with High Functioning Autism Spectrum Disorders and College Freshmen’s Assessment of Its Conventionality of Usage}}. {Autism Res Treat};2013;2013:480635.
Unlike their English-speaking counterparts, Japanese children with high-functioning autism spectrum disorders (HFASDs) perform as well as typically developing (TD) children in comprehending metaphor, despite lacking 1st order theory of mind (ToM) reasoning. Additionally, although Japanese sarcasm and « indirect reproach » appear theoretically to need 2nd order ToM reasoning, HFASD children without this comprehended these forms of language as well as TD children. To attempt to explain this contradiction, we asked college freshmen to evaluate the strangeness (unconventionality) of these types of figurative language. We aimed to test the hypothesis that metaphor, sarcasm, and « indirect reproach » might be evaluated as more conventional than irony, which children with HFASDs do not comprehend as well as those with attention deficit hyperactivity disorder. The results for irony, metaphor, and « indirect reproach » supported the hypothesis, while those for sarcasm did not. Sarcasm is comprehended by HFASDs children as well as by TD children despite being evaluated as highly unconventional. This contradiction is discussed from a self-in-relation-to-other perspective. We postulate that a new explanation of disabilities of figurative language comprehension in children with HFASDs is needed instead of relying on a single cognitive process.
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5. Sadakata T, Shinoda Y, Sato A, Iguchi H, Ishii C, Matsuo M, Yamaga R, Furuichi T. {{Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing caps2/cadps2 copy number and alternative splicing variants}}. {Int J Environ Res Public Health};2013;10(12):6335-6353.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by disturbances in interpersonal relationships and behavior. Although the prevalence of autism is high, effective treatments have not yet been identified. Recently, genome-wide association studies have identified many mutations or variations associated with ASD risk on many chromosome loci and genes. Identification of the biological roles of these mutations or variations is necessary to identify the mechanisms underlying ASD pathogenesis and to develop clinical treatments. At present, mice harboring genetic modifications of ASD-associated gene candidates are the best animal models to analyze hereditary factors involved in autism. In this report, the biological significance of ASD-associated genes is discussed by examining the phenotypes of mouse models with ASD-associated mutations or variations in mouse homologs, with a focus on mice harboring genetic modifications of the Caps2/Cadps2 (Ca2+-dependent activator protein for secretion 2) gene.
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6. Taylor JL, Smith LE, Mailick MR. {{Engagement in Vocational Activities Promotes Behavioral Development for Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Nov 28)
This study examined the bidirectional relations over time between behavioral functioning (autism symptoms, maladaptive behaviors, activities of daily living) and vocational/educational activities of adults with autism spectrum disorders (ASD). Participants were 153 adults with ASD (M age = 30.2 years) who were part of a larger longitudinal study. Data were collected at two time points separated by 5.5 years. Cross-lag models were used, which accounted for stability over time while testing both directions of cross-lagged effects. Results suggested that greater vocational independence and engagement was related to subsequent reductions in autism symptoms and maladaptive behaviors, and improvements in activities of daily living. Relations between earlier behavioral variables (symptoms, behaviors, and activities of daily living) and later vocational independence were not statistically significant.
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7. Thompson DG, Tielsch-Goddard A. {{Improving Management of Patients With Autism Spectrum Disorder Having Scheduled Surgery: Optimizing Practice}}. {J Pediatr Health Care};2013 (Nov 25)
INTRODUCTION: Surgical preparation for children with autism spectrum disorders can be a challenge to perioperative staff because of the unique individual needs and behaviors in this population. Most children with autism function best in predictable, routine environments, and being in the hospital and other health care settings can create a stressful situation. This prospective, descriptive, quality improvement project was conducted to optimize best practices for perioperative staff and better individualize the plan of care for the autistic child and his or her family. METHODS: Forty-three patients with a diagnosis of autism or autistic spectrum disorder were seen over 6 months at a suburban pediatric hospital affiliated with a major urban pediatric hospital and had an upcoming scheduled surgery or procedure requiring anesthesia. Caregivers were interviewed before and after surgery to collect information to better help their child cope with their hospital visit. RESULTS: In an evaluation of project outcomes, data were tabulated and summarized and interview data were qualitatively coded for emerging themes to improve the perioperative process for the child. DISCUSSION: Findings showed that staff members were able to recognize potential and actual stressors and help identify individual needs of surgical patients with autism. The families were pleased and appreciative of the individual attention and focus on their child’s special needs. Investigators also found increased staff interest in optimizing the surgical experience for autistic children.
