1. Angkustsiri K, Krakowiak P, Moghaddam B, Wardinsky T, Gardner J, Kalamkarian N, Hertz-Picciotto I, Hansen RL. {{Minor physical anomalies in children with autism spectrum disorders}}. {Autism};2011 (May 24)
Objective: There is clinical heterogeneity among the autism spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study employs an adaptation of Miles and Hillman’s (2000) classifications by using photographs to identify a subgroup with significant dysmorphology among children with ASD, typical development (TYP), and developmental delay (DD). Method: Children with ASD, DD, and TYP between 2 and 5 years old were part of the CHARGE Study. Pediatric specialists blinded to diagnostic group classified photographs based on the number of MPAs present: ‘dysmorphic’ if >3 and ‘nondysmorphic’ if <3 MPAs. Results: Photographs for 324 children were included. Significantly more children with ASD were classified as dysmorphic compared to TYP children (p = .007). In children with ASD, seizures were more prevalent in those rated dysmorphic (p = .005). Frequencies were similar between ASD versus DD (p = .19) after removing those with known syndromes. Conclusion: Photographic assessment can be used to detect generalized dysmorphology in children who are often difficult to examine. This has clinical relevance, as children with multiple MPAs can be identified through the use of photographs and prioritized for investigation of brain abnormalities and underlying genetic disorders.
2. Cimera RE, Wehman P, West M, Burgess S. {{Do Sheltered Workshops Enhance Employment Outcomes for Adults With Autism Spectrum Disorder?}}. {Autism};2011 (May 24)
This study investigated whether sheltered workshops help prepare individuals with autism spectrum disorder (ASD) for competitive employment within the community. Two groups of individuals were compared: (a) 215 supported employees who were in sheltered workshops prior to entering supported employment and (b) 215 supported employees who were not in sheltered workshops. Individuals from both groups were matched based on their primary diagnosis, secondary diagnosis (if present), and gender. Results showed that there were no differences in rates of employment between these two groups. However, individuals who participated in sheltered workshops earned significantly less (US$129.36 versus US$191.42 per week), and cost significantly more to serve (US$6,065.08 versus US$2,440.60), than their non-sheltered workshop peers. Results presented here suggest that individuals with ASD achieve better vocational outcomes if they do not participate in sheltered workshops prior to enrolling in supported employment.
3. Falter CM, Bailey AJ. {{Perception of Mirror Symmetry in Autism Spectrum Disorders}}. {Autism};2011 (May 24)
Gestalt grouping in autism spectrum disorders (ASD) is selectively impaired for certain organization principles but for not others. Symmetry is a fundamental Gestalt principle characterizing many biological shapes. Sensitivity to symmetry was tested using the Picture Symmetry Test, which requires finding symmetry lines on pictures. Individuals with ASD showed decreased sensitivity to symmetry and a correlation of test performance with performance IQ. Decreased sensitivity for symmetry in ASD is discussed in relation to reduced visual experience of faces in early development.
4. Griffith GM, Totsika V, Nash S, Hastings RP. {{‘I just don’t fit anywhere’: support experiences and future support needs of individuals with Asperger syndrome in middle adulthood}}. {Autism};2011 (May 24)
The experiences of individuals in middle adulthood with Asperger syndrome have been the subject of little previous research, especially in terms of their experience of support services. In the present research, 11 adults with Asperger syndrome were interviewed. Interpretative phenomenological analysis (IPA) was used to interpret the interviews. Four themes emerged from the analysis: living with Asperger syndrome; employment issues; experiences with mainstream support; and future steps towards supporting adults with Asperger syndrome. The findings highlighted the anxiety, depression, and communication difficulties that people with Asperger syndrome may experience. Much of the available support is perceived as unsuitable for individuals with Asperger syndrome. All participants wanted to remain as independent as possible, and believed an individualized approach to support would be greatly beneficial. Recommendations are made for future practice to help support adults with Asperger syndrome.
5. Kamp-Becker I, Ghahreman M, Heinzel-Gutenbrunner M, Peters M, Remschmidt H, Becker K. {{Evaluation of the revised algorithm of Autism Diagnostic Observation Schedule (ADOS) in the diagnostic investigation of high-functioning children and adolescents with autism spectrum disorders}}. {Autism};2011 (May 24)
The Autism Diagnostic Observation Schedule (ADOS) is a semi-structured, standardized assessment designed for use in diagnostic evaluation of individuals with suspected autism spectrum disorder (ASD). The ADOS has been effective in categorizing children who definitely have autism or not, but has lower specificity and sometimes sensitivity for distinguishing children with milder ASDs. Revised ADOS algorithms have been recently developed. The goals of this study were to analyze the predictive validity of different ADOS algorithms for module 3, in particular for high-functioning autism spectrum disorder. The participants were 252 children and adolescents aged between four and 16 years, with a full-scale IQ above 70 (126 with a diagnosis of ASD, 126 with a heterogeneous non-spectrum diagnosis). As a main finding, sensitivity was substantially higher for the newly developed ‘revised algorithm’, both for autism versus non-spectrum, as well as for the broader ASD versus non-spectrum, using the higher cut-off. The strength of the original algorithm lies in its positive predictive power, while the revised algorithm shows weaknesses in specificity for non-autism ASD. As the ADOS is valid and reliable even for higher functioning ASD, the findings of the present study have been used to make recommendations regarding the best use of ADOS algorithms in a high-functioning sample.
6. Kim SJ, Silva RM, Flores CG, Jacob S, Guter S, Valcante G, Zaytoun AM, Cook EH, Jr., Badner JA. {{A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders}}. {Mol Autism};2011 (May 24);2(1):8.
ABSTRACT: BACKGROUND: SLC25A12 was previously identified in a linkage directed association analysis in autism. In this study, we investigated the relationship between three SLC25A12 single nucleotide polymorphisms (SNPs) (rs2056202, rs908670 and rs2292813) and restricted repetitive behavior (RRB) traits in autism spectrum disorders (ASDs), based on a positive correlation between the G allele of rs2056202 and an RRB subdomain score on the Autism Diagnostic Interview-Revised (ADI-R). METHODS: We used the Repetitive Behavior Scale-Revised (RBS-R) as a quantitative RRB measure, and conducted linear regression analyses for individual SNPs and a previously identified haplotype (rs2056202-rs2292813). We examined associations in our UIC-UF sample (179 unrelated individuals), and then attempted to replicate our findings in the Simons Simplex Collection (SSC) sample (720 families). RESULTS: In the UIC-UF sample, three RBS-R scores (ritualistic/sameness/sum) showed positive associations with the A allele of rs2292813 (p=0.006-0.012), and with rs2056202-rs2292813 haplotype (omnibus test p=0.025-0.040). The SSC sample revealed positive associations between the A allele of rs2056202 and four RBS-R scores (stereotyped/sameness/restricted/sum, p=0.006-0.010), between the A allele of rs908670 and three RBS-R scores (stereotyped/self-injurious/sum, p=0.003-0.015), and between rs2056202-rs2292813 haplotype and RBS-R scores (stereotyped/self-injurious/compulsive/sameness/restricted/sum, omnibus test p=0.002-0.028). Taken together, the A alleles of rs2056202 and rs2292813 were consistently positively associated with RRB traits in both UIC-UF and SSC samples, but the most significant SNP-phenotype association varied in each dataset. CONCLUSIONS: This study confirmed an association between SLC25A12 and RRB traits in ASDs, but the direction of the association was different from the initial study. This may be because of the examined SLC25A12 SNPs being in linkage disequilibrium (LD) with another risk allele as well as genetic/phenotypic heterogeneity of the ASD samples across studies.
7. Lahiri U, Warren Z, Sarkar N. {{Design of a Gaze-Sensitive Virtual Social Interactive System for Children With Autism}}. {IEEE Trans Neural Syst Rehabil Eng};2011 (May 23)
Impairments in social communication skills are thought to be core deficits in children with autism spectrum disorder (ASD). In recent years, several assistive technologies, particularly Virtual Reality (VR), have been investigated to promote social interactions in this population. It is well-known that children with ASD demonstrate atypical viewing patterns during social interactions and thus monitoring eye-gaze can be valuable to design intervention strategies. While several studies have used eye-tracking technology to monitor eye-gaze for offline analysis, there exists no real-time system that can monitor eye-gaze dynamically and provide individualized feedback. Given the promise of VR-based social interaction and the usefulness of monitoring eye-gaze in real-time, a novel VR-based dynamic eyetracking system is developed in this work. This system, called Virtual Interactive system with Gaze-sensitive Adaptive Response Technology (VIGART), is capable of delivering individualized feedback based on a child’s dynamic gaze patterns during VR-based interaction. Results from a usability study with 6 adolescents with ASD are presented that examines the acceptability and usefulness of VIGART. The results in terms of improvement in behavioral viewing and changes in relevant eye physiological indices of participants while interacting with VIGART indicate the potential of this novel technology.
8. Lloyd M, Macdonald M, Lord C. {{Motor skills of toddlers with autism spectrum disorders}}. {Autism};2011 (May 24)
With increased interest in the early diagnosis and treatment of children with autism spectrum disorders (ASD), more attention has been called to the motor skills of very young children with ASD. This study describes the gross and fine motor skills of a cross-sectional group of 162 children with ASD between the ages of 12 and 36 months, as well as a subset of 58 children followed longitudinally. Gross motor and fine motor age equivalent scores were obtained for all children. A ‘motor difference’ variable was calculated for each child’s gross and fine motor skills by taking the absolute difference of the children’s age equivalent motor score and their respective chronological age. In Study 1 (the cross-sectional analysis), ANCOVA (co-varied for nonverbal problem solving) revealed significant group differences in the gross motor and fine motor age difference variables. Post-hoc analysis revealed that gross motor and fine motor differences became significantly greater with each 6-month period of chronological age. In Study 2, 58 children were measured twice, an average of 12 months apart. Results indicate that the gross motor and fine motor difference scores significantly increased between the first and second measurements. The importance of addressing motor development in early intervention treatments is discussed.
9. Samadi SA, Mahmoodizadeh A, McConkey R. {{A National Study of the Prevalence of Autism Among Five-Year-old Children in Iran}}. {Autism};2011 (May 24)
In Iran, more than 1.3 million five-year olds have been screened for autism over three academic years, with the Social Communication Questionnaire (SCQ). The Autism Diagnostic Interview-Revised (ADI-R) is used to confirm a diagnosis of typical autism. The resulting prevalence of 6.26 per 10,000 for typical autism is in line with rates for certain countries but is lower than those reported recently for some Western nations. This may be due to the younger age range assessed but the suitability of the tools and aspects of Iranian culture could be other reasons for the lower prevalence. International comparisons of prevalence rates is fraught with difficulties, but it is a valuable endeavour as it can identify issues around cultural and societal perceptions of children’s development.
10. Schmidt RJ, Hansen RL, Hartiala J, Allayee H, Schmidt LC, Tancredi DJ, Tassone F, Hertz-Picciotto I. {{Prenatal Vitamins, One-carbon Metabolism Gene Variants, and Risk for Autism}}. {Epidemiology};2011 (May 23)
BACKGROUND:: Causes of autism are unknown. Associations with maternal nutritional factors and their interactions with gene variants have not been reported. METHODS:: Northern California families were enrolled from 2003 to 2009 in the CHARGE (CHildhood Autism Risks from Genetics and Environment) population-based case-control study. Children aged 24-60 months were evaluated and confirmed to have autism (n = 288), autism spectrum disorder (n = 141), or typical development (n = 278) at the University of California-Davis Medical Investigation of Neurodevelopmental Disorders Institute using standardized clinical assessments. We calculated adjusted odds ratios (ORs) for associations between autism and retrospectively collected data on maternal vitamin intake before and during pregnancy. We explored interaction effects with functional genetic variants involved in one-carbon metabolism (MTHFR, COMT, MTRR, BHMT, FOLR2, CBS, and TCN2) as carried by the mother or child. RESULTS:: Mothers of children with autism were less likely than those of typically developing children to report having taken prenatal vitamins during the 3 months before pregnancy or the first month of pregnancy (OR = 0.62 [95% confidence interval = 0.42-0.93]). Significant interaction effects were observed for maternal MTHFR 677 TT, CBS rs234715 GT + TT, and child COMT 472 AA genotypes, with greater risk for autism when mothers did not report taking prenatal vitamins periconceptionally (4.5 [1.4-14.6]; 2.6 [1.2-5.4]; and 7.2 [2.3-22.4], respectively). Greater risk was also observed for children whose mothers had other one-carbon metabolism pathway gene variants and reported no prenatal vitamin intake. CONCLUSIONS:: Periconceptional use of prenatal vitamins may reduce the risk of having children with autism, especially for genetically susceptible mothers and children. Replication and mechanistic investigations are warranted.
11. Senju A. {{Spontaneous Theory of Mind and Its Absence in Autism Spectrum Disorders}}. {Neuroscientist};2011 (May 23)
Theory of mind, the cognitive capacity to infer others’ mental states, is crucial for the development of social communication. The impairment of theory of mind may relate to autism spectrum disorder (ASD), which is characterized by profound difficulties in social interaction and communication. In the current article, I summarize recent updates in theory of mind research utilizing the spontaneous false belief test, which assesses participants’ spontaneous tendency to attribute belief status to others. These studies reveal that young infants pass the spontaneous false belief test well before they can pass the same task when explicitly asked to answer. By contrast, high-functioning adults with ASD, who can easily pass the false belief task when explicitly asked to, do not show spontaneous false belief attribution. These findings suggest that the capacity for theory of mind develops much earlier than was previously thought, and the absence of spontaneous theory of mind may relate to impairment in social interaction and communication found in ASD.
12. White SW, Ollendick TH, Bray BC. {{College students on the autism spectrum: Prevalence and associated problems}}. {Autism};2011 (May 24)
As more young people are identified with autism spectrum diagnoses without co-occurring intellectual disability (i.e. high-functioning autism spectrum disorder; HFASD), it is imperative that we begin to study the needs of this population. We sought to gain a preliminary estimate of the scope of the problem and to examine psychiatric risks associated HFASD symptoms in university students. In a large sample (n = 667), we examined prevalence of ASD in students at a single university both diagnostically and dimensionally, and surveyed students on other behavioral and psychiatric problems. Dependent upon the ascertainment method, between .7 per cent and 1.9 per cent of college students could meet criteria for HFASD. Of special interest, none of the students who were found to meet diagnostic criteria (n = 5) formally for HFASD in this study had been previously diagnosed. From a dimensional perspective, those students scoring above the clinical threshold for symptoms of autism (n = 13) self-reported more problems with social anxiety than a matched comparison group of students with lower autism severity scores. In addition, symptoms of HFASD were significantly correlated with symptoms of social anxiety, as well as depression and aggression. Findings demonstrate the importance of screening for autism-related impairment among university students.
13. Yasuda Y, Hashimoto R, Yamamori H, Ohi K, Fukumoto M, Umeda-Yano S, Mohri I, Ito A, Taniike M, Takeda M. {{Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder}}. {Mol Autism};2011 (May 26);2(1):9.
ABSTRACT: BACKGROUND: The autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that result in severe and pervasive impairment in the development of reciprocal social interaction and verbal and nonverbal communication skills. In addition, individuals with ASD have stereotypical behavior, interests and activities. Rare mutations of some genes, such as neuroligin (NLGN) 3/4, neurexin (NRXN) 1, SHANK3, MeCP2 and NHE9, have been reported to be associated with ASD. In the present study, we investigated whether alterations in mRNA expression levels of these genes could be found in lymphoblastoid cell lines derived from patients with ASD. METHODS: We measured mRNA expression levels of NLGN3/4, NRXN1, SHANK3, MeCP2, NHE9 and AKT1 in lymphoblastoid cells from 35 patients with ASD and 35 healthy controls, as well as from 45 patients with schizophrenia and 45 healthy controls, using real-time quantitative reverse transcriptase polymerase chain reaction assays. RESULTS: The mRNA expression levels of NLGN3 and SHANK3 normalized by beta-actin or TBP were significantly decreased in the individuals with ASD compared to controls, whereas no difference was found in the mRNA expression level of MeCP2, NHE9 or AKT1. However, normalized NLGN3 and SHANK3 gene expression levels were not altered in patients with schizophrenia, and expression levels of NLGN4 and NRXN1 mRNA were not quantitatively measurable in lymphoblastoid cells. CONCLUSIONS: Our results provide evidence that the NLGN3 and SHANK3 genes may be differentially expressed in lymphoblastoid cell lines from individuals with ASD compared to those from controls. These findings suggest the possibility that decreased mRNA expression levels of these genes might be involved in the pathophysiology of ASD in a substantial population of ASD patients.
