1. Asada K, Itakura S. {{Social Phenotypes of Autism Spectrum Disorders and Williams Syndrome: Similarities and Differences}}. {Front Psychol};2012;3:247.
Autism spectrum disorders (ASD) and Williams syndrome (WS) both are neurodevelopmental disorders, each with a unique social phenotypic pattern. This review article aims to define the similarities and differences between the social phenotypes of ASD and WS. We review studies that have examined individuals with WS using diagnostic assessments such as the Autism Diagnostic Observation Schedule (ADOS), cross-syndrome direct comparison studies, and studies that have individually examined either disorder. We conclude that (1) individuals with these disorders show quite contrasting phenotypes for face processing (i.e., preference to faces and eyes) and sociability (i.e., interest in and motivation to interact with others), and (2) although the ADOS and a direct comparison study on pragmatic language ability suggest more deficits in ASD, individuals with WS are similarly impaired on social cognition and communicative skills. In light of these results, we discuss how cross-syndrome comparisons between ASD and WS can contribute to developmental theory, cognitive neuroscience, and the development and choice of clinical treatments.
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2. Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang YH, Sun ZS. {{Mutations of ANK3 identified by exome sequencing are associated with autism ausceptibility}}. {Hum Mutat};2012 (Aug 3)
Autism spectrum disorders (ASDs) are common neurodevelopmental disorders with a strong genetic etiology. However, due to the extreme genetic heterogeneity of ASDs, traditional approaches for gene discovery are challenging. Next-generation sequencing technologies offer an opportunity to accelerate the identification of the genetic causes of ASDs. Here, we report the results of whole-exome sequence in a cohort of 20 ASD patients. By extensive bioinformatic analysis, we identified novel mutations in seven genes that are implicated in synaptic function and neurodevelopment. After sequencing an additional 47 ASD samples, we identified three different missense mutations in ANK3 in four unrelated ASD patients, one of which, c.4705T>G (p.S1569A), is a recurrent de novo mutation. Given the fact that ANK3 has been shown to strongly associate with schizophrenia and bipolar disorder, our findings support an association between ANK3 mutations and ASD susceptibility and imply a shared molecular pathophysiology between ASDs and other neuropsychiatric disorders.
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3. Crippa A, Forti S, Perego P, Molteni M. {{Eye-Hand Coordination in Children with High Functioning Autism and Asperger’s Disorder Using a Gap-Overlap Paradigm}}. {J Autism Dev Disord};2012 (Aug 3)
We investigated eye-hand coordination in children with autism spectrum disorders (ASD) in comparison with age-matched normally developing peers. The eye-hand correlation was measured by putting fixation latencies in relation with pointing and key pressing responses in visual detection tasks where a gap-overlap paradigm was used and compared to fixation latencies in absence of manual response. ASD patients showed less efficient eye-hand coordination, which was particularly evident when pointing towards a target was being fixated. The data of normally developing participants confirmed that manual gap effects are more likely for more complex hand movements. An important discrepancy was discovered in participants with ASD: beside normal eye gap effects, they showed no concurrent hand gap effects when pointing to targets. This result has been interpreted as a further sign of inefficient eye-hand coordination in this patient population.
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4. Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM. {{Comparative RNA editing in autistic and neurotypical cerebella}}. {Mol Psychiatry};2012 (Aug 7)
Adenosine-to-inosine (A-to-I) RNA editing is a neurodevelopmentally regulated epigenetic modification shown to modulate complex behavior in animals. Little is known about human A-to-I editing, but it is thought to constitute one of many molecular mechanisms connecting environmental stimuli and behavioral outputs. Thus, comprehensive exploration of A-to-I RNA editing in human brains may shed light on gene-environment interactions underlying complex behavior in health and disease. Synaptic function is a main target of A-to-I editing, which can selectively recode key amino acids in synaptic genes, directly altering synaptic strength and duration in response to environmental signals. Here, we performed a high-resolution survey of synaptic A-to-I RNA editing in a human population, and examined how it varies in autism, a neurodevelopmental disorder in which synaptic abnormalities are a common finding. Using ultra-deep (>1000 x ) sequencing, we quantified the levels of A-to-I editing of 10 synaptic genes in postmortem cerebella from 14 neurotypical and 11 autistic individuals. A high dynamic range of editing levels was detected across individuals and editing sites, from 99.6% to below detection limits. In most sites, the extreme ends of the population editing distributions were individuals with autism. Editing was correlated with isoform usage, clusters of correlated sites were identified, and differential editing patterns examined. Finally, a dysfunctional form of the editing enzyme adenosine deaminase acting on RNA B1 was found more commonly in postmortem cerebella from individuals with autism. These results provide a population-level, high-resolution view of A-to-I RNA editing in human cerebella and suggest that A-to-I editing of synaptic genes may be informative for assessing the epigenetic risk for autism.Molecular Psychiatry advance online publication, 7 August 2012; doi:10.1038/mp.2012.118.
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5. Georgiades S, Szatmari P, Boyle M, Hanna S, Duku E, Zwaigenbaum L, Bryson S, Fombonne E, Volden J, Mirenda P, Smith I, Roberts W, Vaillancourt T, Waddell C, Bennett T, Thompson A. {{Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach}}. {J Child Psychol Psychiatry};2012 (Aug 1)
Background: Autism spectrum disorder (ASD) is characterized by notable phenotypic heterogeneity, which is often viewed as an obstacle to the study of its etiology, diagnosis, treatment, and prognosis. On the basis of empirical evidence, instead of three binary categories, the upcoming edition of the DSM 5 will use two dimensions – social communication deficits (SCD) and fixated interests and repetitive behaviors (FIRB) – for the ASD diagnostic criteria. Building on this proposed DSM 5 model, it would be useful to consider whether empirical data on the SCD and FIRB dimensions can be used within the novel methodological framework of Factor Mixture Modeling (FMM) to stratify children with ASD into more homogeneous subgroups. Methods: The study sample consisted of 391 newly diagnosed children (mean age 38.3 months; 330 males) with ASD. To derive subgroups, data from the Autism Diagnostic Interview-Revised indexing SCD and FIRB were used in FMM; FMM allows the examination of continuous dimensions and latent classes (i.e., categories) using both factor analysis (FA) and latent class analysis (LCA) as part of a single analytic framework. Results: Competing LCA, FA, and FMM models were fit to the data. On the basis of a set of goodness-of-fit criteria, a ‘two-factor/three-class’ factor mixture model provided the overall best fit to the data. This model describes ASD using three subgroups/classes (Class 1: 34%, Class 2: 10%, Class 3: 56% of the sample) based on differential severity gradients on the SCD and FIRB symptom dimensions. In addition to having different symptom severity levels, children from these subgroups were diagnosed at different ages and were functioning at different adaptive, language, and cognitive levels. Conclusions: Study findings suggest that the two symptom dimensions of SCD and FIRB proposed for the DSM 5 can be used in FMM to stratify children with ASD empirically into three relatively homogeneous subgroups.
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6. Golnik A, Maccabee-Ryaboy N, Scal P, Wey A, Gaillard P. {{Shared decision making: improving care for children with autism}}. {Intellect Dev Disabil};2012 (Aug);50(4):322-331.
Abstract We assessed the extent to which parents of children with autism spectrum disorder report that they are engaged in shared decision making. We measured the association between shared decision making and (a) satisfaction with care, (b) perceived guidance regarding controversial issues in autism spectrum disorder, and (c) perceived assistance navigating the multitude of treatment options. Surveys assessing primary medical care and decision-making processes were developed on the basis of the U.S. Department of Health and Human Service’s Consumer Assessment of Healthcare Providers and Systems survey. In May 2009, after pilot testing, we sent surveys to 203 parents of children from ages 3 to 18 with International Classification of Diseases-9 and parent-confirmed autism spectrum disorder diagnoses. The response rate was 64%. Controlling for key demographic variables, parents of children with autism spectrum disorder reporting higher levels of shared decision making reported significantly greater satisfaction with the overall quality of their child’s health care (p </= .0001). Parents reporting higher levels of shared decision making were also significantly more likely to report receiving guidance on the many treatment options (p = .0002) and controversial issues related to autism spectrum disorder (p = .0322). In this study, shared decision making was associated with higher parent satisfaction and improved guidance regarding treatments and controversial issues within primary care for children with autism spectrum disorder.
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7. Hedley D, Young R, Brewer N. {{Using Eye Movements as an Index of Implicit Face Recognition in Autism Spectrum Disorder}}. {Autism Res};2012 (Aug 4)
Individuals with an autism spectrum disorder (ASD) typically show impairment on face recognition tasks. Performance has usually been assessed using overt, explicit recognition tasks. Here, a complementary method involving eye tracking was used to examine implicit face recognition in participants with ASD and in an intelligence quotient-matched non-ASD control group. Differences in eye movement indices between target and foil faces were used as an indicator of implicit face recognition. Explicit face recognition was assessed using old-new discrimination and reaction time measures. Stimuli were faces of studied (target) or unfamiliar (foil) persons. Target images at test were either identical to the images presented at study or altered by changing the lighting, pose, or by masking with visual noise. Participants with ASD performed worse than controls on the explicit recognition task. Eye movement-based measures, however, indicated that implicit recognition may not be affected to the same degree as explicit recognition. Autism Res 2012, **: **-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
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8. Karst JS, Van Hecke AV. {{Parent and Family Impact of Autism Spectrum Disorders: A Review and Proposed Model for Intervention Evaluation}}. {Clin Child Fam Psychol Rev};2012 (Aug 7)
Raising a child with an autism spectrum disorder (ASD) can be an overwhelming experience for parents and families. The pervasive and severe deficits often present in children with ASD are associated with a plethora of difficulties in caregivers, including decreased parenting efficacy, increased parenting stress, and an increase in mental and physical health problems compared with parents of both typically developing children and children with other developmental disorders. In addition to significant financial strain and time pressures, high rates of divorce and lower overall family well-being highlight the burden that having a child with an ASD can place on families. These parent and family effects reciprocally and negatively impact the diagnosed child and can even serve to diminish the positive effects of intervention. However, most interventions for ASD are evaluated only in terms of child outcomes, ignoring parent and family factors that may have an influence on both the immediate and long-term effects of therapy. It cannot be assumed that even significant improvements in the diagnosed child will ameliorate the parent and family distress already present, especially as the time and expense of intervention can add further family disruption. Thus, a new model of intervention evaluation is proposed, which incorporates these factors and better captures the transactional nature of these relationships.
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9. Magana S, Parish SL, Rose RA, Timberlake M, Swaine JG. {{Racial and ethnic disparities in quality of health care among children with autism and other developmental disabilities}}. {Intellect Dev Disabil};2012 (Aug);50(4):287-299.
Abstract We examined racial and ethnic disparities in quality of care for children with autism and other developmental disabilities and whether disparities varied for children with autism compared to children with other developmental disabilities. Analyzing data from the National Survey of Children with Special Health Care Needs (N = 4,414), we compared Black and Latino children to White children. We found racial and ethnic disparities on 5 of 6 quality outcomes. The interaction between race and disability status indicated that disparities in quality indicators were exacerbated among families of children with autism. These analyses suggest that children with autism, particularly those who are Latino and Black, face greater challenges in receiving high-quality health care.
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10. McGrath J, Johnson K, Ecker C, O’Hanlon E, Gill M, Gallagher L, Garavan H. {{Atypical Visuospatial Processing in Autism: Insights from Functional Connectivity Analysis}}. {Autism Res};2012 (Aug 4)
Atypical visuospatial processing is commonly described in autism spectrum disorders (ASDs); however the specific neurobiological underpinnings of this phenomenon are poorly understood. Given the extensive evidence suggesting ASDs are characterized by abnormal neural connectivity, this study aimed to investigate network connectivity during visuospatial processing in ASD. Twenty-two males with ASD without intellectual disability and 22 individually matched controls performed a mental rotation task during functional magnetic resonance imaging (MRI) in which two rotated stimuli were judged to be same (« Same Trials ») or mirror-imaged (« Mirror Trials »). Behavioral results revealed a relative advantage of mental rotation in the ASD group-controls were slower responding to the more difficult Mirror Trials than Same Trials whereas the ASD group completed Mirror Trials and Same-trials at similar speeds. In the ASD group, brain activity was reduced in frontal, temporal, occipital, striatal, and cerebellar regions and, consistent with previous literature, functional connectivity between a number of brain regions was reduced. However, some connections appeared to be conserved and were recruited in a qualitatively different way by the two groups. As task difficulty increased (on Mirror Trials), controls tended to increase connections between certain brain regions, whereas the ASD group appeared to suppress connections between these regions. There was an interesting exception to this pattern in the visual cortex, a finding that may suggest an advantage in early visual perceptual processing in ASD. Overall, this study has identified a relative advantage in mental rotation in ASD that is associated with aberrant neural connectivity and that may stem from enhanced visual perceptual processing. Autism Res 2012, **: **-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
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11. Williams DL, Goldstein G, Minshew NJ. {{The Modality Shift Experiment in Adults and Children with High Functioning Autism}}. {J Autism Dev Disord};2012 (Aug 3)
This study used the modality shift experiment, a relatively simple reaction time measure to visual and auditory stimuli, to examine attentional shifting within and across modalities in 33 children and 42 adults with high-functioning autism as compared to matched numbers of age- and ability-matched typical controls. An exaggerated « modality shift effect » relative to the TD children occurred for the children with autism in conditions involving the reaction time when shifting from sound to light but not from light to sound. No exaggerated MSE was found for the adults with autism; rather, their responses were characterized by a generalized slowness relative to the adults with TD. These results suggest a lag in maturational development in autism in basic information processing mechanisms.
