Pubmed du 12/10/12

Pubmed du jour

2012-10-12 12:03:50

1. {{The many faces of autism}}. {Pediatr Ann};2012 (Oct 1);41(10):388-389.

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2. Almeida RA, Dickinson JE, Maybery MT, Badcock JC, Badcock DR. {{Visual Search Targeting Either Local or Global Perceptual Processes Differs as a Function of Autistic-Like Traits in the Typically Developing Population}}. {J Autism Dev Disord};2012 (Oct 9)

Relative to low scorers, high scorers on the Autism-Spectrum Quotient (AQ) show enhanced performance on the Embedded Figures Test and the Radial Frequency search task (RFST), which has been attributed to both enhanced local processing and differences in combining global percepts. We investigate the role of local and global processing further using the RFST in four experiments. High AQ adults maintained a consistent advantage in search speed across diverse target-distracter stimulus conditions. This advantage may reflect enhanced local processing of curvature in early stages of the form vision pathway and superior global detection of shape primitives. However, more probable is the presence of a superior search process that enables a consistent search advantage at both levels of processing.

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3. Brown HK, Ouellette-Kuntz H, Hunter D, Kelley E, Cobigo V. {{Unmet needs of families of school-aged children with an autism spectrum disorder}}. {J Appl Res Intellect Disabil};2012 (Nov);25(6):497-508.

Background To aid decision making regarding the allocation of limited resources, information is needed on the perceived unmet needs of parents of school-aged children with an autism spectrum disorder. Materials and Methods A cross-sectional survey was conducted of 101 Canadian families of school-aged children with an autism spectrum disorder. Results Commonly reported unmet needs were for social activities for the child (78.2%), information about services (77.2%) and continuous service provision (74.3%). Conclusions This study provides insight into needs which have not been met by the service system. Information about the unmet needs of children with an autism spectrum disorder and their families may help policy makers and service providers to develop resources and services that are responsive to their client group.

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4. Brown HM, Oram-Cardy J, Johnson A. {{A Meta-Analysis of the Reading Comprehension Skills of Individuals on the Autism Spectrum}}. {J Autism Dev Disord};2012 (Oct 3)

This meta-analysis examined 36 studies comparing autism spectrum disorder (ASD) and control groups in reading comprehension. Three moderators (semantic knowledge, decoding skill, PIQ) and two text types (high vs. low social knowledge) were examined as predictors of reading comprehension in ASD. The overall standardized mean difference for reading comprehension was g = -0.7 SD. The strongest individual predictors of reading comprehension were semantic knowledge (explaining 57 % of variance) and decoding skill (explaining 55 % of variance). Individuals with ASD were significantly worse at comprehending highly social than less social texts. Having ASD alone does not predict reading comprehension deficits. Instead, individual skills, especially language ability, must be considered before one can accurately predict whether a given individual with ASD will experience difficulties in reading comprehension.

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5. Cukier HN, Lee JM, Ma D, Young JI, Mayo V, Butler BL, Ramsook SS, Rantus JA, Abrams AJ, Whitehead PL, Wright HH, Abramson RK, Haines JL, Cuccaro ML, Pericak-Vance MA, Gilbert JR. {{The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1}}. {Autism Res};2012 (Oct 10)

The methyl-CpG-binding domain (MBD) gene family was first linked to autism over a decade ago when Rett syndrome, which falls under the umbrella of autism spectrum disorders (ASDs), was revealed to be predominantly caused by MECP2 mutations. Since that time, MECP2 alterations have been recognized in idiopathic ASD patients by us and others. Individuals with deletions across the MBD5 gene also present with ASDs, impaired speech, intellectual difficulties, repetitive behaviors, and epilepsy. These findings suggest that further investigations of the MBD gene family may reveal additional associations related to autism. We now describe the first study evaluating individuals with ASD for rare variants in four autosomal MBD family members, MBD5, MBD6, SETDB1, and SETDB2, and expand our initial screening in the MECP2 gene. Each gene was sequenced over all coding exons and evaluated for copy number variations in 287 patients with ASD and an equal number of ethnically matched control individuals. We identified 186 alterations through sequencing, approximately half of which were novel (96 variants, 51.6%). We identified 17 ASD specific, nonsynonymous variants, four of which were concordant in multiplex families: MBD5 Tyr1269Cys, MBD6 Arg883Trp, MECP2 Thr240Ser, and SETDB1 Pro1067del. Furthermore, a complex duplication spanning of the MECP2 gene was identified in two brothers who presented with developmental delay and intellectual disability. From our studies, we provide the first examples of autistic patients carrying potentially detrimental alterations in MBD6 and SETDB1, thereby demonstrating that the MBD gene family potentially plays a significant role in rare and private genetic causes of autism. Autism Res 2012, **: **-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.

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6. Gorczyca P, Kapinos-Gorczyca A, Ziora K, Oswiecimska J. {{Photoanthropometric study of dysmorphic features of the face in children with autism and asperger syndrome}}. {Iran J Psychiatry};2012 (Winter);7(1):41-46.

OBJECTIVE: Childhood autism is a neurodevelopmental disorder characterized by impairments in social interactions, verbal and non-verbal communication and by a pattern of stereotypical behaviors and interests. The aim of this study was to estimate the dysmorphic facial features of children with autism and children with Asperger syndrome. METHODS: The examination was conducted on 60 children (30 with childhood autism and 30 with Asperger syndrome). The photo anthropometric method used in this study followed the protocol established by Stengel-Rutkowski et al. RESULTS: The performed statistical analysis showed that in patients with childhood autism, the anteriorly rotated ears and the long back of the nose appeared more often. In the group of children with autism, there was a connection between the amount of dysmorphies and the presence of some somatic diseases in the first-degree relatives. There was also a connection between the motor coordination and the age the child began to walk. DISCUSSION: In patients with childhood autism, there were certain dysmorphies (like the anterior rotated ears and the long back of the nose) which appeared more often. Although the connection was not statistically significant, it seemed to concur with data from the literature. CONCLUSION: Formulation of the other conclusions would require broader studies e.g. dealing with a familial analysis of dysmorphic features.

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7. Hilaire SS, Ezike V, Stryhn H, Thomas MA. {{An ecological study on childhood autism}}. {Int J Health Geogr};2012 (Oct 11);11(1):44.

ABSTRACT: Background and methodsIdiopathic autism, suspected to be caused by exposure of genetically susceptible individuals to unknown environmental triggers, has increased dramatically in the past 25 years. The objectives of our study were to determine, using a linear regression model, whether the county prevalence of autism in the Pacific Northwest was associated with the source of drinking water for that county and whether this relationship was dependent on the level of environmental pollutants and meteorological factors in the county. RESULTS: We found the previously reported relationship between precipitation and autism in a county was dependent on the amount of drinking water derived from surface sources in the county. We also found a positive association between the EPA’s risk of neurological disease and autism, but this relationship was only present in warm areas. CONCLUSIONS: Our study provides evidence for the hypothesis that environmental factors are associated with autism and that meteorological factors play a role in this relationship.

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8. Kasari C, Patterson S. {{Interventions Addressing Social Impairment in Autism}}. {Curr Psychiatry Rep};2012 (Oct 4)

Children with an autism spectrum disorder have significant impairment in social skills. This area of development has also been the focus of many intervention studies. In this article we review intervention studies published over the past two years. Three topical areas were addressed in current interventions: social skills knowledge, peer relationships, and joint attention/joint engagement. Younger children most often received interventions on joint attention/joint engagement and older, higher functioning children received interventions on social knowledge and peer relationship development. Both single subject research designs and group designs were reviewed. One advancement was that more randomized controlled trials were reported, as well as effectiveness trials in the community. Study quality was also rated. More group than single subject designs were rated as adequate or strong in quality. Overall, moderate to large effects were found for interventions targeting joint attention/joint engagement and peer relationships with mixed effects on interventions targeting social skills knowledge. Future studies should focus on isolating the active ingredients of interventions and include broader participant representation.

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9. Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr EH, Marco EJ. {{Autism Traits in Individuals with Agenesis of the Corpus Callosum}}. {J Autism Dev Disord};2012 (Oct 5)

Autism spectrum disorders (ASD) have numerous etiologies, including structural brain malformations such as agenesis of the corpus callosum (AgCC). We sought to directly measure the occurrence of autism traits in a cohort of individuals with AgCC and to investigate the neural underpinnings of this association. We screened a large AgCC cohort (n = 106) with the Autism Spectrum Quotient (AQ) and found that 45 % of children, 35 % of adolescents, and 18 % of adults exceeded the predetermined autism-screening cut-off. Interestingly, performance on the AQ’s imagination domain was inversely correlated with magnetoencephalography measures of resting-state functional connectivity in the right superior temporal gyrus. Individuals with AgCC should be screened for ASD and disorders of the corpus callosum should be considered in autism diagnostic evaluations as well.

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10. Le JF, Lohr WD. {{Aggression and self-injury in a patient with severe autism}}. {Pediatr Ann};2012 (Oct 1);41(10):1-3.

CME EDUCATIONAL OBJECTIVES1.Know when it is appropriate to consider inpatient psychiatric care for a child with autism.2.Understand the medical complexities of a child with severe autism.3.Learn how to evaluate behavioral changes in a patient with severe autism. The patient is an 11-year-old nonverbal, white male with prior psychiatric diagnoses of autism, severe mental retardation, and attention-deficit/hyperactivity disorder. He was admitted to the inpatient psychiatric unit due to an increase in aggression and self-injurious behavior, rendering the family unable to maintain safety in the home. His behavior included head banging and scratching himself until he bled. His behaviors had continued to worsen since his aripiprazole was discontinued by his outpatient psychiatrist 10 days prior, due to excessive weight gain. His guardian also reported a significant decrease in sleep during the same time frame. There had been no changes in his environment or daily routine, and no acute medical symptoms were identified.

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11. Le JF, Lohr WD. {{Pharmacology in the treatment of severe autism spectrum disorder}}. {Pediatr Ann};2012 (Oct 1);41(10):1-3.

CME EDUCATIONAL OBJECTIVES1.Recognize which presentations of autism spectrum disorder (ASD) respond to medication.2.Learn the pharmacologic interventions commonly used in ASD.3.Know the implications of pharmacologic treatment in ASD. The patient is an 8-year-old, noverbal black male diagnosed with autism who was admitted to the inpatient psychiatric unit due to an increase in aggressive and self-injurious behavior that has threatened his safety and the safety of those around him. His guardian reported that over the prior month, the patient had been destroying property in the home, becoming aggressive with both adults and peers, and had demonstrated an increase in head banging and biting his arm. These behaviors were in response to minimal provocation and specific triggers were not identified.

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12. Lohr WD, Le JF. {{Treatment plan for a patient with an autism spectrum disorder}}. {Pediatr Ann};2012 (Oct 1);41(10):1-3.

CME EDUCATIONAL OBJECTIVES1.Increase facility with developing and implementing a treatment plan for children with autistic spectrum disorders (ASD).2.Understand the roles behavior therapy, speech and language pathology, and occupational therapy play in reducing deficits associated with ASD.3.Illuminate the significant but limited role of pharmacology in the treatment of patients with ASD. The patient is a 13-year-old male who presents with excessive energy and problems focusing. The patient has a history of poor eye contact in social interactions, and stiff body postures. The patient is eager for friendships but often seems intrusive and one-sided with his conversations. He tends to focus on his interest in movies and often asks repetitive « what if » questions. He becomes very frustrated with changes in routine and shows tactile sensitivity to tags in his clothes and seams in his socks.

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13. Lohr WD, Le JF. {{Proposed DSM-5 Changes for Autism Spectrum Disorder}}. {Pediatr Ann};2012 (Oct 1);41(10):1-3.

CME EDUCATIONAL OBJECTIVES1.Identify the signs and symptoms of autism spectrum disorder (ASD).2.Understand the proposed criteria for ASD in the DSM-5.3.Gain awareness of the proposed advantages and concerns posed by the DSM-5 diagnostic criteria for ASD. The patient is a 12-year-old female diagnosed with the mainly inattentive type of attention-deficit disorder due to problems with focus and completing homework. She is treated with 54 mg per day of extended-release methylphenidate. The family presents for ongoing management of ADD but also note she has tantrums over homework and sharing with her 10-year-old sister.

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14. Lohr WD, Le JF. {{Outpatient diagnosis of autism spectrum disorder}}. {Pediatr Ann};2012 (Oct 1);41(10):1-3.

CME EDUCATIONAL OBJECTIVES1.Recognize and accurately diagnose Asperger’s disorder and autism spectrum disorder (ASD) in an out-patient setting.2.Understand the role clinical rating instruments play in the diagnosis of ASD.3.Appreciate the multidisciplinary approach to the diagnosis and management of ASD. The patient is a 14-year-old male referred for problems with anger. He becomes easily frustrated by his siblings and by homework, and he will scream and ball his fists. His parents report he seems to have poor self-esteem with some episodes of crying. The patient has only two friends and has difficulty making eye contact with others. He resists affection from his mother.

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15. Lohr WD, Tanguay P. {{Case challenges in autism spectrum disorder: the role of the pediatrician}}. {Pediatr Ann};2012 (Oct 1);41(10):408-409.

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16. Masterson TL, Dimitriou F, Turko K, McPartland J. {{Developing Undergraduate Coursework in Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Oct 9)

With rates of autism spectrum disorders (ASD) continuing to rise alongside improvements in early identification and treatment, service providers are in great demand. Providing undergraduate students with opportunities for education and applied experiences with autism spectrum disorders (ASD) can help fill a valuable niche in the autism community. This paper will propose standards for best practice in educating undergraduates about autism spectrum disorders through coursework and practicum experiences.

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17. Pringle B, Colpe LJ, Blumberg SJ, Avila RM, Kogan MD. {{Diagnostic History and Treatment of School-aged Children with Autism Spectrum Disorder and Special Health Care Needs}}. {NCHS Data Brief};2012 (May)(97):1-8.

KEY FINDINGS: Data from the 2011 Survey of Pathways to Diagnosis and Services The median age when school-aged children with special health care needs (CSHCN) and autism spectrum disorder (ASD) were first identified as having ASD was 5 years. School-aged CSHCN identified as having ASD at a younger age (under age 5 years) were identified most often by generalists and psychologists, while those identified later (aged 5 years and over) were identified primarily by psychologists and psychiatrists. Nine out of 10 school-aged CSHCN with ASD use one or more services to meet their developmental needs. Social skills training and speech or language therapy are the most common, each used by almost three-fifths of these children. More than one-half of school-aged CSHCN with ASD use psychotropic medication.

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18. Sanderson C, Allen ML. {{The Specificity of Inhibitory Impairments in Autism and Their Relation to ADHD-Type Symptoms}}. {J Autism Dev Disord};2012 (Oct 9)

Findings on inhibitory control in autism have been inconsistent. This is perhaps a reflection of the different tasks that have been used. Children with autism (CWA) and typically developing controls, matched for verbal and non-verbal mental age, completed three tasks of inhibition, each representing different inhibitory subcomponents: Go/No-Go (delay inhibition), Dog-Pig Stroop (conflict inhibition), and a Flanker task (resistance to distractor inhibition). Behavioural ratings of inattention and hyperactivity/impulsivity were also obtained, as a possible source of heterogeneity in inhibitory ability. CWA were only impaired on the conflict inhibition task, suggesting that inhibitory difficulty is not a core executive deficit in autism. Symptoms of inattention were related to conflict task performance, and thus may be an important predictor of inhibitory heterogeneity.

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19. Wang H, Chen C, Fushing H. {{Extracting multiscale pattern information of FMRI based functional brain connectivity with application on classification of autism spectrum disorders}}. {PLoS One};2012;7(10):e45502.

We employed a multi-scale clustering methodology known as « data cloud geometry » to extract functional connectivity patterns derived from functional magnetic resonance imaging (fMRI) protocol. The method was applied to correlation matrices of 106 regions of interest (ROIs) in 29 individuals with autism spectrum disorders (ASD), and 29 individuals with typical development (TD) while they completed a cognitive control task. Connectivity clustering geometry was examined at both « fine » and « coarse » scales. At the coarse scale, the connectivity clustering geometry produced 10 valid clusters with a coherent relationship to neural anatomy. A supervised learning algorithm employed fine scale information about clustering motif configurations and prevalence, and coarse scale information about intra- and inter-regional connectivity; the algorithm correctly classified ASD and TD participants with sensitivity of [Formula: see text] and specificity of [Formula: see text]. Most of the predictive power of the logistic regression model resided at the level of the fine-scale clustering geometry, suggesting that cellular versus systems level disturbances are more prominent in individuals with ASD. This article provides validation for this multi-scale geometric approach to extracting brain functional connectivity pattern information and for its use in classification of ASD.

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20. Xiao T, Xiao Z, Ke X, Hong S, Yang H, Su Y, Chu K, Xiao X, Shen J, Liu Y. {{Response inhibition impairment in high functioning autism and attention deficit hyperactivity disorder: evidence from near-infrared spectroscopy data}}. {PLoS One};2012;7(10):e46569.

BACKGROUND: Response inhibition, an important domain of executive function (EF), involves the ability to suppress irrelevant or interfering information and impulses. Previous studies have shown impairment of response inhibition in high functioning autism (HFA) and attention deficit hyperactivity disorder (ADHD), but more recent findings have been inconsistent. To date, almost no studies have been conducted using functional imaging techniques to directly compare inhibitory control between children with HFA and those with ADHD. METHOD: Nineteen children with HFA, 16 age- and intelligence quotient (IQ)-matched children with ADHD, and 16 typically developing (TD) children were imaged using functional near-infrared spectroscopy (NIRS) while performing Go/No-go and Stroop tasks. RESULTS: Compared with the TD group, children in both the HFA and ADHD groups took more time to respond during the No-go blocks, with reaction time longest for HFA and shortest for TD. Children in the HFA and ADHD groups also made a greater number of reaction errors in the No-go blocks than those in the TD group. During the Stroop task, there were no significant differences between these three groups in reaction time and omission errors. Both the HFA and ADHD groups showed a higher level of inactivation in the right prefrontal cortex (PFC) during the No-go blocks, relative to the TD group. However, no significant differences were found between groups in the levels of oxyhemoglobin concentration in the PFC during the Stroop task. CONCLUSION: Functional brain imaging using NIRS showed reduced activation in the right PFC in children with HFA or ADHD during an inhibition task, indicating that inhibitory dysfunction is a shared feature of both HFA and ADHD.

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21. Yamasue H, Yee JR, Hurlemann R, Rilling JK, Chen FS, Meyer-Lindenberg A, Tost H. {{Integrative Approaches Utilizing Oxytocin to Enhance Prosocial Behavior: From Animal and Human Social Behavior to Autistic Social Dysfunction}}. {J Neurosci};2012 (Oct 10);32(41):14109-14117.

The prevalence of autism spectrum disorder (ASD) is as high as 1 in 100 individuals and is a heavy burden to society. Thus, identifying causes and treatments is imperative. Here, we briefly review the topics covered in our 2012 Society for Neuroscience Mini-Symposium entitled « Integrative Approaches Using Oxytocin to Enhance Prosocial Behavior: From Animal and Human Social Behavior to ASD’s Social Dysfunction. » This work is not meant to be a comprehensive review of oxytocin and prosocial behavior. Instead, we wish to share the newest findings on the effects of oxytocin on social behavior, the brain, and the social dysfunction of ASD at the molecular, genetic, systemic, and behavior levels, in varied subjects ranging from animal models to humans suffering from autism for the purpose of promoting further study for developing the clinical use of oxytocin in treating ASD.

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