1. Armstrong K, Iarocci G. {{Brief Report: The Autism Spectrum Quotient has Convergent Validity with the Social Responsiveness Scale in a High-Functioning Sample}}. {J Autism Dev Disord};2013 (Jan 31)
The Autism Spectrum Quotient (AQ) is widely used to measure autism spectrum disorder (ASD) symptoms and screen for ASD. It is readily available free of charge online and is easily accessible to practitioners, researchers and individuals who suspect that they may have an ASD. Thus, the AQ is a potentially useful, widely accessible tool for ASD screening. The objective of this study was to examine the convergent validity of the AQ using a well-established, published screening measure of autism: the Social Responsiveness Scale (SRS). Twenty-three high-functioning participants (aged 8-19) with ASD were administered both measures. Results indicated a significant correlation between the SRS and AQ ratings, providing evidence for convergent validity of the AQ with the SRS.
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2. Cai Y, Chia NK, Thalmann D, Kee NK, Zheng J, Magnenat-Thalmann N. {{Design and Development of a Virtual Dolphinarium for Children With Autism}}. {IEEE Trans Neural Syst Rehabil Eng};2013 (Jan 24)
The recent proliferation of virtual reality (VR) technology applications in the autism therapy to promote learning and positive behavior among such children has produced optimistic results in developing a variety of skills and abilities in them. Dolphin-assisted therapy has also become a topic of public and research interest for autism intervention and treatment. This paper will present an innovative design and development of a virtual dolphinarium for potential autism intervention. Instead of emulating the swimming with dolphins, our virtual dolphin interaction program will allow children with autism to act as dolphin trainers at the poolside and to learn (non-verbal) communication through hand gestures with the virtual dolphins. Immersive visualisation and gesture-based interaction are implemented to engage children with autism within an immersive room equipped with a curved screen spanning a 320 degree and a high-end 5-panel projection system. This paper will also report a pilot study to establish trial protocol of autism screening to explore the participants’ readiness for the virtual dolphin interaction. This research will have two potential benefits in the sense of helping children with autism and protecting the endangered species.
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3. Haebig E, McDuffie A, Ellis Weismer S. {{Brief Report: Parent Verbal Responsiveness and Language Development in Toddlers on the Autism Spectrum}}. {J Autism Dev Disord};2013 (Jan 30)
This study examined the longitudinal associations between parent verbal responsiveness and language 3 years later in 34 toddlers with a diagnosis of an autism spectrum disorder. Parent-child play samples were coded for child engagement and communication acts and for parent verbal responsiveness. Measures of responsive verbal behaviors were used to predict language gain scores 3 years later. Parent directives for language that followed into the child’s focus of attention were predictive of child receptive language gains. Parent comments that followed into the child’s focus of attention yielded differential effects depending on initial levels of child language. Children who were minimally verbal at age 2(1/2) benefited from parent comments that followed into the their focus of attention, whereas children who were verbally fluent did not demonstrate such a benefit.
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4. Johnson NL, Giarelli E, Lewis C, Rice CE. {{Genomics and Autism Spectrum Disorder}}. {J Nurs Scholarsh};2013 (Jan 31)
Purpose: To present the current state of the evidence regarding translation of genetics (the study of single genes) and genomics (the study of all genes and gene-gene or gene-environment interactions) into health care of children with autism spectrum disorder (ASD). Methods: This article presents an overview of ASD as an international health challenge, the emerging science related to broad diagnostic criteria, and the role of the nurse in research, education, and practice. Findings: Much progress is being made in the understanding of genetics and genomics of ASD. Environmental factors are thought to contribute to the risk of developing ASD by interacting with a number of genes in different ways, thus suggesting causal heterogeneity. The rising identified prevalence of ASD, the changing diagnostic criteria for ASD, and the complexity of the core and associated features have made it difficult to define the ASD phenotype (observable behaviors that result from gene-environment interaction). Because early identification improves opportunities for intervention, researchers are looking for a useful biomarker to detect ASD. This search is complicated by the likelihood that there are multiple causes for multiple expressions that are defined as the autism spectrum. Conclusions: To date, genetic and genomic research on ASD have underscored the complexity of the causes of ASD indicating that there are very complex genetic processes involved that are still not well understood. Clinical Relevance: Nurses will benefit from new knowledge related to early identification, diagnosis, and implications for the family to promote early intervention. Families who have a child with ASD will require nursing support for advocacy for optimal health outcomes.
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5. Klein S, Sharifi-Hannauer P, Martinez-Agosto JA. {{Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism}}. {Autism Res};2013 (Jan 29)
An association between autism and macrocephaly has been previously described. A subset of cases with extreme macrocephaly (>3 standard deviation [SD], 99.7th percentile) have been correlated to mutations in the gene phosphatase and tensin homolog (PTEN). However, the phenotypic and genetic characterization of the remaining cases remains unclear. We report the phenotypic classification and genetic testing evaluation of a cohort of 33 patients with autism and macrocephaly. Within our cohort, we confirm the association of PTEN mutations and extreme macrocephaly (>3 SD, 99.7th percentile) and identify mutations in 22% of cases, including three novel PTEN mutations. In addition, we define three phenotypic subgroups: (a) those cases associated with somatic overgrowth, (b) those with disproportionate macrocephaly, and (c) those with relative macrocephaly. We have devised a novel way to segregate patients into these subgroups that will aide in the stratification of autism macrocephaly cases. Within these subgroups, we further expand the genetic etiologies for autism cases with macrocephaly by describing two novel suspected pathogenic copy number variants located at 6q23.2 and 10q24.32. These findings demonstrate the phenotypic heterogeneity of autism cases associated with macrocephaly and their genetic etiologies. The clinical yield from PTEN mutation analysis is 22% and 9% from chromosomal microarray (CMA) testing within this cohort. The identification of three distinct phenotypic subgroups within macrocephaly autism patients may allow for the identification of their respective distinct genetic etiologies that to date have remained elusive. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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6. Murdock LC, Ganz J, Crittendon J. {{Use of an iPad Play Story to Increase Play Dialogue of Preschoolers with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Jan 31)
An iPad play story was utilized to increase the pretend play skills of 4 preschoolers with autism spectrum disorders. The story utilized a series of video clips depicting toy figures producing scripted character dialogue, engaged in a pretend play vignette. A multiple baseline design across participants was utilized with play dialogue as the dependent variable. Three of the participants demonstrated increases in the target behavior with Nonoverlap of All Pairs analysis revealing moderate and strong effects across intervention phases. Effects were largely maintained during generalization opportunities with peers and during a 3-week follow-up condition.
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7. Sgado P, Genovesi S, Kalinovsky A, Zunino G, Macchi F, Allegra M, Murenu E, Provenzano G, Tripathi PP, Casarosa S, Joyner AL, Bozzi Y. {{Loss of GABAergic neurons in the hippocampus and cerebral cortex of Engrailed-2 null mutant mice: Implications for autism spectrum disorders}}. {Exp Neurol};2013 (Jan 26)
The homeobox-containing transcription factor Engrailed-2 (En2) is involved in patterning and neuronal differentiation of the midbrain/hindbrain region, where it is prominently expressed. En2 mRNA is also expressed in the adult mouse hippocampus and cerebral cortex, indicating that it might also function in these brain areas. Genome-wide association studies revealed that En2 is a candidate gene for autism spectrum disorders (ASD), and mice devoid of its expression (En2(-/-) mice) display anatomical, behavioural and clinical « autistic-like » features. Since reduced GABAergic inhibition has been proposed as a possible pathogenic mechanism of ASD, we hypothesized that the phenotype of En2(-/-) mice might include defective GABAergic innervation in the forebrain. Here we show that the Engrailed proteins are present in postnatal GABAergic neurons of the mouse hippocampus and cerebral cortex, and adult En2(-/-) mice show reduced expression of GABAergic marker mRNAs in these areas. In addition, reduction in parvalbumin (PV), somatostatin (SOM) and neuropeptide Y (NPY) expressing interneurons is detected in the hippocampus and cerebral cortex of adult En2(-/-) mice. Our results raise the possibility of a link between altered function of En2, anatomical deficits of GABAergic forebrain neurons and the pathogenesis of ASD.
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8. Ward KM, Atkinson JP, Smith CA, Windsor R. {{A friendships and dating program for adults with intellectual and developmental disabilities: a formative evaluation}}. {Intellect Dev Disabil};2013 (Feb);51(1):22-32.
Abstract Meaningful relationships with others are often elusive for people with intellectual and developmental disabilities, but no less desired for their full inclusion and participation in society. It is well documented that people with disabilities are victims of interpersonal violence at higher rates than peers without disabilities. This article presents a formative evaluation of the Friendships and Dating Program (FDP). The FDP was designed to teach the social skills needed to develop healthy, meaningful relationships and to prevent violence in dating and partnered relationships. Thirty-one adults were recruited by 5 community agencies in Alaska to participate. The results showed the size of the participants’ social networks increased and the number of incidents of interpersonal violence was reduced for participants who completed the FDP, and outcomes were maintained 10 weeks later.
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9. White O. {{Forensic Issues in Adolescents with Developmental Disabilities}}. {Med Sci Law};2013 (Jan 29)
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10. Windham GC, Sumner A, Li SX, Anderson M, Katz E, Croen LA, Grether JK. {{Use of Birth Certificates to Examine Maternal Occupational Exposures and Autism Spectrum Disorders in Offspring}}. {Autism Res};2013 (Jan 29)
The continuing rise in the prevalence of autism spectrum disorders has led to heightened interest in the role of nongenetic factors, including exogenous exposures, but little research has been conducted. To explore a possible role in autism etiology, we used data available from our prior studies to examine potential occupational exposures, as these may occur at higher levels than environmental exposures. Parental occupation was obtained from birth certificates for 284 children with autism and 659 controls, born in 1994 in the San Francisco Bay Area. Self-reported occupation and industry were coded into eight exposure/chemical groups based on potential neurotoxicity or reprotoxicity by a board-certified physician in occupational medicine and an industrial hygienist blinded to case-control status. Mothers of autistic children were twice as likely to work in occupations considered exposed (14.4%) as mothers of controls (7.2%) (adjusted odds ratio [AOR] 2.3 [95% confidence interval {CI} 1.3-4.2]). The exposure categories of the greatest frequency among case mothers were exhaust and combustion products (AOR = 12.0 [95% CI 1.4-104.6]) and disinfectants (AOR = 4.0 [95% CI 1.4-12.0]). Paternal occupational exposure was not associated with autism, potentially consistent with a direct in-utero exposure effect. There are several limitations of this hypothesis-generating study, including lack of detail on workplace and job duties, leading to possible misclassification and low proportion exposed. However, this misclassification would not be biased by case-control status and is unlikely to explain the associations we did find, suggesting that further research on exogenous exposures may yield useful etiologic clues. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
