1. Agius MM, Vance M. {{A Comparison of PECS and iPad to Teach Requesting to Pre-schoolers with Autistic Spectrum Disorders}}. {Augment Altern Commun};2015 (Nov 20):1-11.
Few studies have compared the efficacy of the Picture Exchange Communication System (PECS) and iPads used as speech generating devices (SGDs), and none have targeted preschoolers. This study compares the relative efficacy of PECS and an iPad/SGD with three preschool-aged children with autism spectrum disorder and limited functional speech who lived in Malta. The study utilized an adapted alternating treatment design embedded in a multiple baseline design, with requesting of reinforcers as the dependent variable. Visual analysis of the results indicated that all participants required more prompted trials and sessions for the iPad/SGD condition. All participants learned a three step navigational sequence on the iPad. Participant preference probes were inconclusive and were not linked to speed of acquisition of requesting skills. Results suggest that both PECS and an iPad could be appropriate for teaching requesting skills to beginning communicators.
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2. Antezana L, Mosner MG, Troiani V, Yerys BE. {{Social-Emotional Inhibition of Return in Children with Autism Spectrum Disorder Versus Typical Development}}. {J Autism Dev Disord};2015 (Nov 19)
In typical development there is a bias to orient visual attention to social information. Children with ASD do not reliably demonstrate this bias, and the role of attention orienting has not been well studied. We examined attention orienting via the inhibition of return (IOR) mechanism in a spatial cueing task using social-emotional cues; we studied 8- to 17-year-old children with ASD (n = 41) and typically developing controls (TDC) (n = 25). The ASD group exhibited a significantly stronger IOR effect than the TDC group, and the IOR effect correlated positively with social impairments but was unrelated to co-occurring ADHD or anxiety symptoms. The results provide evidence of an early altered attention mechanism that is associated with to core social deficits in ASD.
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3. Hill DS, Cabrera R, Wallis Schultz D, Zhu H, Lu W, Finnell RH, Wlodarczyk BJ. {{Autism-Like Behavior and Epigenetic Changes Associated with Autism as Consequences of In Utero Exposure to Environmental Pollutants in a Mouse Model}}. {Behav Neurol};2015;2015:426263.
We tested the hypothesis that in utero exposure to heavy metals increases autism-like behavioral phenotypes in adult animals and induces epigenetic changes in genes that have roles in the etiology of autism. Mouse dams were treated with cadmium, lead, arsenate, manganese, and mercury via drinking water from gestational days (E) 1-10. Valproic acid (VPA) injected intraperitoneally once on (E) 8.5 served as a positive control. Young male offspring were tested for behavioral deficits using four standardized behavioral assays. In this study, in utero exposure to heavy metals resulted in multiple behavioral abnormalities that persisted into adulthood. VPA and manganese induced changes in perseverative/impulsive behavior and social dominance behavior, arsenic caused changes only in perseverative/impulsive behavior, and lead induced abnormalities in social interaction in comparison to the control animals. Brain samples from Mn, Pb, and VPA treated and control animals were evaluated for changes in CpG island methylation in promoter regions and associated changes in gene expression. The Chd7 gene, essential for neural crest cell migration and patterning, was found to be hypomethylated in each experimental animal tested compared to water-treated controls. Furthermore, distinct patterns of CpG island methylation yielded novel candidate genes for further investigation.
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4. Irvine CA, Eigsti IM, Fein DA. {{Uh, Um, and Autism: Filler Disfluencies as Pragmatic Markers in Adolescents with Optimal Outcomes from Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Nov 19)
Filler disfluencies-uh and um-are thought to serve distinct discourse functions. We examined fillers in spontaneous speech by youth with autism spectrum disorder (ASD), who struggle with pragmatic language, and by youth with ASD who have achieved an ‘optimal outcome’ (OO), as well as in peers with typical development (TD). While uh rates did not differ, participants with ASD produced um less frequently than OO or TD groups. Um rate was associated with autism symptom severity, but not executive function or language abilities, suggesting that um serves a pragmatic, listener-oriented function. Moreover, in contrast to minimal production in ASD, the typical OO um production substantiates the normalization of subtle social communication in this population.
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5. Kamin DS, Freiberger D, Daly KP, Oliva M, Helfand L, Haynes K, Harrison CH, Kim HB. {{What Is the Role of Developmental Disability in Patient Selection for Pediatric Solid Organ Transplantation?}}. {Am J Transplant};2015 (Nov 20)
The National Organ Transplant Act stipulates that deceased donor organs should be justly and wisely allocated based on sound medical criteria. Allocation schemes are consistent across the country, and specific policies are publicly vetted. Patient selection criteria are largely in the hands of individual organ transplant programs, and consistent standards are less evident. This has been particularly apparent for patients with developmental disabilities (DDs). In response to concerns regarding the fairness of transplant evaluations for patients with DDs, we developed a transplant centerwide policy using a multidisciplinary, community-based approach. This publication details the particular policy of our center. All patients should receive individualized assessments using consistent standards; disability should be neither a relative nor an absolute contraindication to transplantation. External review can increase trust in the selection process. Patients in persistent vegetative states should not be listed for transplantation.
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6. Ma NS, Thompson C, Weston S. {{Brief Report: Scurvy as a Manifestation of Food Selectivity in Children with Autism}}. {J Autism Dev Disord};2015 (Nov 21)
Scurvy was diagnosed in seven children at Boston Children’s Hospital. All of the children had a developmental disorder and autism was the most common. They had a long-standing history of food selectivity with diets devoid of fruits and vegetables, and none of the children were supplemented with a multivitamin. They presented with limp, and an elaborate panel of tests and procedures were undertaken before the diagnosis of scurvy was made. Treatment with vitamin C led to rapid recovery of symptoms. This report emphasizes the importance of considering nutritional causes of musculoskeletal symptoms in children with autism and restrictive diets.
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7. Rosenblau G, Kliemann D, Lemme B, Walter H, Heekeren HR, Dziobek I. {{The role of the amygdala in naturalistic mentalising in typical development and in autism spectrum disorder}}. {Br J Psychiatry};2015 (Nov 19)
BackgroundThe substantial discrepancy between mentalising in experimental settings v. real-life social interactions hinders the understanding of the neural basis of real-life social cognition and of social impairments in psychiatric disorders.AimsTo determine the neural mechanisms underlying naturalistic mentalising in individuals with and without autism spectrum disorder.MethodWe investigated mentalising with a new video-based functional magnetic resonance imaging task in 20 individuals with autism spectrum disorder and 22 matched healthy controls.ResultsNaturalistic mentalising implicated regions of the traditional mentalising network (medial prefrontal cortex, temporoparietal junction), and additionally the insula and amygdala. Moreover, amygdala activity predicted implicit mentalising performance on an independent behavioural task. Compared with controls, the autism spectrum disorder group did not show differences in neural activity within classical mentalising regions. They did, however, show reduced amygdala activity and a reduced correlation between amygdala activity and mentalising accuracy on the behavioural task, compared with controls.ConclusionsThese findings highlight the crucial role of the amygdala in making accurate implicit mental state inferences in typical development and in the social cognitive impairments of individuals with autism spectrum disorder.
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8. Sasson NJ, Shasteen JR, Pinkham AE. {{Brief Report: Reduced Prioritization of Facial Threat in Adults with Autism}}. {J Autism Dev Disord};2015 (Nov 21)
Typically-developing (TD) adults detect angry faces more efficiently within a crowd than non-threatening faces. Prior studies of this social threat superiority effect (TSE) in ASD using tasks consisting of schematic faces and homogeneous crowds have produced mixed results. Here, we employ a more ecologically-valid test of the social TSE and find evidence of a reduced social TSE in adults with ASD (n = 21) relative to TD controls (n = 28). Unlike TD participants, the ASD group failed to show the normative advantage for detecting angry faces faster than happy faces, either within crowds of neutral or emotional faces. These findings parallel prior work indicating a reduced sensitivity in ASD to facial cues of untrustworthiness, and may reflect a vulnerability for evaluating social harm.
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9. Telias M, Kuznitsov-Yanovsky L, Segal M, Ben-Yosef D. {{Functional Deficiencies in Fragile X Neurons Derived from Human Embryonic Stem Cells}}. {J Neurosci};2015 (Nov 18);35(46):15295-15306.
Fragile X syndrome (FXS), the most common form of inherited mental retardation, is a neurodevelopmental disorder caused by silencing of the FMR1 gene, which in FXS becomes inactivated during human embryonic development. We have shown recently that this process is recapitulated by in vitro neural differentiation of FX human embryonic stem cells (FX-hESCs), derived from FXS blastocysts. In the present study, we analyzed morphological and functional properties of neurons generated from FX-hESCs. Human FX neurons can fire single action potentials (APs) to depolarizing current commands, but are unable to discharge trains of APs. Their APs are of a reduced amplitudes and longer durations than controls. These are reflected in reduced inward Na(+) and outward K(+) currents. In addition, human FX neurons contain fewer synaptic vesicles and lack spontaneous synaptic activity. Notably, synaptic activity in these neurons can be restored by coculturing them with normal rat hippocampal neurons, demonstrating a critical role for synaptic mechanisms in FXS pathology. This is the first extensive functional analysis of human FX neurons derived in vitro from hESCs that provides a convenient tool for studying molecular mechanisms underlying the impaired neuronal functions in FXS. SIGNIFICANCE STATEMENT: Fragile X syndrome (FXS), the most common form of inherited mental retardation, is caused by silencing of the FMR1 gene. In this study, we describe for the first time the properties of neurons developed from human embryonic stem cells (hESCs) that carry the FMR1 mutation and are grown in culture for extended periods. These neurons are retarded compared with controls in several morphological and functional properties. In vitro neural differentiation of FX hESCs can thus serve as a most relevant system for the analysis of molecular mechanisms underlying the impaired neuronal functions in FXS.
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10. Zander E, Willfors C, Berggren S, Choque-Olsson N, Coco C, Elmund A, Moretti AH, Holm A, Jifalt I, Kosieradzki R, Linder J, Nordin V, Olafsdottir K, Poltrago L, Bolte S. {{The objectivity of the Autism Diagnostic Observation Schedule (ADOS) in naturalistic clinical settings}}. {Eur Child Adolesc Psychiatry};2015 (Nov 19)
The Autism Diagnostic Observation Schedule (ADOS) is a first-choice diagnostic tool in autism spectrum disorder (ASD). Excellent interpersonal objectivity (interrater reliability) has been demonstrated for the ADOS under optimal conditions, i.e., within groups of highly trained « research reliable » examiners in research setting. We investigated the spontaneous interrater reliability among clinically trained ADOS users across multiple sites in clinical routine. Forty videotaped administrations of the ADOS modules 1-4 were rated by five different raters each from a pool of in total 15 raters affiliated to 13 different clinical sites. G(q,k) coefficients (analogous to intraclass correlations), kappas (k) and percent agreement (PA) were calculated. The median interrater reliability for items across the four modules was G(q,k) = .74-.83, with the single ADOS items ranging from .23 to .94. G(q,k) for total scores was .85-.92. For diagnostic classification (ASD/non-spectrum), PA was 64-82 % and Fleiss’ k .19-.55. Objectivity was lower for pervasive developmental disorder not otherwise specified and non-spectrum diagnoses as compared to autism. Interrater reliabilities of the ADOS items and domain totals among clinical users across multiple sites were in the same range as previously reported for research reliable users, while the one for diagnostic classification was lower. Differences in sample characteristics, rater skills and statistics compared with previous studies are discussed. Findings endorse the objectivity of the ADOS in naturalistic clinical settings, but also pinpoint its limitations and the need and value of adequate and continuous rater training.
