1. Conson M, Salzano S, Grossi D. {{Neuropsychological functioning of an Asperger child with exceptional skill in arranging picture stories}}. {Neurocase}. 2011 Jan 10:1-7.
A striking special ability in arranging picture stories was reported in an Asperger child (C.M.) showing an exceptional performance on Wechsler picture arrangement subtest. Neuropsychological examination did not disclose visuoperceptual and spatial defects, or working memory, attention and executive disorders, but revealed an attentional bias towards local details of complex structures. A specific assessment of C.M.’s understanding of picture stories demonstrated that, with respect to normal controls, he showed an enhanced ability to detect causal links among elements of a story. These findings provide support to the hypothesis that savantism can be related to strong systemizing in autism.
2. Crepel A, Steyaert J, De la Marche W, De Wolf V, Fryns JP, Noens I, et al. {{Narrowing the critical deletion region for autism spectrum disorders on 16p11.2}}. {Am J Med Genet B Neuropsychiatr Genet}. 2011 Jan 11.
3. Demurie E, Roeyers H, Baeyens D, Sonuga-Barke E. {{Common alterations in sensitivity to type but not amount of reward in ADHD and autism spectrum disorders}}. {J Child Psychol Psychiatry}. 2011 Jan 11.
Background: Children with attention deficit/hyperactivity disorder (ADHD) display abnormalities in reward processing. Most reward studies have focused on the effects of material or monetary rewards. Studies with autism spectrum disorder (ASD) have focused on social rewards. In this study we compared the effects of amount and type of reward in children with ADHD and those with ASD. Methods: Two adapted versions of the Monetary Incentive Delay Task were used to study the effects of monetary and social reward anticipation on performance in 40 typically developing (TD) children and adolescents (8-16y), 35 children and adolescents with ADHD and 31 children and adolescents with ASD. Results: Monetary and social reward improved accuracy and response time (RT) in all groups. The higher the anticipated reward, the more accurate and faster were responses. Independent of these effects, there was a differential effect of reward type. Both clinical groups, but not TD, responded faster for monetary than social rewards. Conclusions: The results, while not supporting hyposensitivity to changes in reward amount in ADHD and ASD, do suggest that both groups are generally less motivated in settings where social as opposed to monetary rewards can be earned.
4. Ghanizadeh A. {{c-Kit+ Cells Transplantation as a New Treatment for Autism, a Novel Hypothesis with Important Research and Clinical Implication}}. {J Autism Dev Disord}. 2011 Jan 12.
5. Goraksha S, Bidaye S, Gajendragadkar S, Bapat J, Butani M. {{General anaesthesia for insertion of an automated implantable cardioverter defibrillator in a child with Brugada and autism}}. {Indian J Anaesth}. 2010 Nov;54(6):562-4.
A 14-year-old autistic boy presented with acute gastroenteritis and hypotension. The electrocardiogram showed a ventricular fibrillation rhythm – he went into cardiorespiratory arrest and was immediately resuscitated. On investigation, the electrocardiogram showed a partial right bundle branch block with a « coved » pattern of ST elevation in leads v(1)-v(3). A provisional diagnosis of Brugada syndrome was made, for which an automated implantable cardioverter defibrillator (AICD) implantation was advised. Although the automated implantable cardioverter defibrillator implantation is usually performed under sedation, because this was an autistic child, he needed general anaesthesia. We performed the procedure uneventfully under general anaesthesia and he was discharged after a short hospital stay.
6. Korvatska O, Estes A, Munson J, Dawson G, Bekris LM, Kohen R, et al. {{Mutations in the TSGA14 gene in families with autism spectrum disorders}}. {Am J Med Genet B Neuropsychiatr Genet}. 2011 Jan 13.
Linkage to 7q has been the most robust genetic finding in familial autism. A previous scan of multiplex families with autism spectrum disorders found a linkage signal of genome-wide significance at D7S530 on 7q32. We searched a candidate imprinted region at this location for genetic variants in families with positive linkage scores. Using exon resequencing, we identified three rare potentially pathogenic variants in the TSGA14 gene, which encodes a centrosomal protein. Two variants were missense mutations (c.664C>G; p.P206A and c.766T>G; p.C240G) that changed conserved residues in the same protein domain; the third variant (c.192+5G>A) altered splicing, which resulted in a protein with an internal deletion of 16 residues and a G33D substitution. These rare TSGA14 variants are enriched in the affected subjects (6/348 patients versus 2/670 controls, Fisher’s exact two tailed P = 0.022). This is the first report of a possible link of a gene with a centrosomal function with familial autism. (c) 2011 Wiley-Liss, Inc.
7. Ronald A, Hoekstra RA. {{Autism spectrum disorders and autistic traits: A decade of new twin studies}}. {Am J Med Genet B Neuropsychiatr Genet}. 2011 Jan 13.
Researchers continue to pursue a better understanding of the symptoms, comorbidities, and causes of autism spectrum disorders. In this article we review more than 30 twin studies of autism spectrum disorders (ASDs) and autistic traits published in the last decade that have contributed to this endeavor. These twin studies have reported on the heritability of autism spectrum disorders and autistic traits in different populations and using different measurement and age groups. These studies have also stimulated debate and new hypotheses regarding why ASDs show substantial symptom heterogeneity, and what causes their comorbidity with intellectual disability, language delay, and other psychiatric disorders such as ADHD. These studies also reveal that the etiology of autism and autistic traits assessed in the general population is more similar than different, which contributes to the question of where the boundary lies between autism and typical development. Recent findings regarding molecular genetic and environmental causes of autism are discussed in the relation to these twin studies. Lastly, methodological assumptions of the twin design are given consideration, as well as issues of measurement. Future research directions are suggested to ensure that this decade is as productive as the last in attempting to disentangle the causes of autism spectrum disorders. (c) 2011 Wiley-Liss, Inc.
8. Roullet FI, Crawley JN. {{Mouse Models of Autism: Testing Hypotheses About Molecular Mechanisms}}. {Curr Top Behav Neurosci}. 2011 Jan 12.
Autism is a neurodevelopmental disorder that is currently diagnosed by the presence of three behavioral criteria (1) qualitative impairments in reciprocal social interactions, (2) deficits in communication, including delayed language and noninteractive conversation, and (3) motor stereotypies, repetitive behaviors, insistence on sameness, and restricted interests. This chapter describes analogous behavioral assays that have been developed for mice, including tests for social approach, reciprocal social interactions, olfactory communication, ultrasonic vocalizations, repetitive and perseverative behaviors, and motor stereotypies. Examples of assay applications to genetic mouse models of autism are provided. Robust endophenotypes that are highly relevant to the core symptoms of autism are enabling the search for the genetic and environmental causes of autism, and the discovery of effective treatments.
9. Sarrett JC. {{Trapped Children: Popular Images of Children with Autism in the 1960s and 2000s}}. {J Med Humanit}. 2011 Jan 12.
The lay public inherits much of its information about disability and mental illness through the media, which often relies on information from popular scientific works. Autism, as it was defined during the dominance of psychogenic paradigms of mental illness, generated certain tropes surrounding it, many of which have been popularized through media representations. Often inaccurate, these tropes have persisted into contemporary times despite a paradigmatic shift from psychogenic to biological explanations and treatments for mental illness. The current article examines images and articles of children with autism from the 1960s and the early 2000s in major news media and scientific literature to highlight the persistence of themes of fragmentation and the imprisonment of children with autism. While these themes have persisted in psychological and media literature, narratives of people with autism and their families often present a different perspective. This results in two divergent ‘realities’ of autism being disseminated into the general public.
10. Wang HT, Sandall SR, Davis CA, Thomas CJ. {{Social Skills Assessment in Young Children With Autism: A Comparison Evaluation of the SSRS and PKBS}}. {J Autism Dev Disord}. 2011 Jan 12.
Impairment in the development of reciprocal social interaction and other social skills is one of the defining characteristics of Autism Spectrum Disorders (ASD). There is a need for assessment tools that will help guide social skills interventions and document outcomes. The purpose of this study was to examine the potential usefulness of two behavior rating scales with young children with ASD in an early childhood program. The results showed that the two social skills measures, the SSRS and PKBS, had adequate psychometric properties in terms of internal consistency, construct validity, convergent validity, and criterion validity with the AEPS, and were found to be predictive of how the tests would function when assessing young children with ASD in a natural setting. However, their usefulness in detecting social skills progress over time or intervention outcomes for young children with ASD may not be satisfactory.
11. Zeidan-Chulia F, Gursoy UK, Kononen E, Gottfried C. {{A dental look at the autistic patient through orofacial pain}}. {Acta Odontol Scand}. 2011 Jan 13.
Abstract Autism is a neurodevelopmental disorder characterized by impaired social interaction and restricted interests, compromised communication skills, and repetitive patterns of behavior. Both social and behavioral problems, which may include hyperactivity and quick frustration, may hinder the detection of other important pathologies such as orofacial pain. This is aggravated by the invasive nature of oral exploration, which may trigger violent and self-injurious responses, such as temper tantrums and/or head banging, which make the work of professionals extremely difficult during diagnoses, follow-up examinations, and dental treatments. In addition, mercury-containing amalgams used to treat dental caries (the most common form of acute orofacial pain) have been associated with higher rates of severe autism in children. The purpose of this review is to describe the current state of the art regarding the co-occurrence of orofacial pain and autism spectrum disorder, and how these conditions may interrelate clinically and neurobiologically.
