Pubmed du 30/01/14

Pubmed du jour

2014-01-30 12:03:50

1. {{Antispsychotics: ‘last option’ for people with autism}}. {Nurs Stand};2014 (Jan 29);28(22):10.

People with autism should be prescribed antipsychotics only if the severity of their challenging behaviour cannot be tackled using any other intervention, according to new quality standards.

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2. Daniels AM, Halladay AK, Shih A, Elder LM, Dawson G. {{Approaches to enhancing the early detection of autism spectrum disorders: a systematic review of the literature}}. {J Am Acad Child Adolesc Psychiatry};2014 (Feb);53(2):141-152.

BACKGROUND: A reliable diagnosis of autism can be made as early as 24 months, yet in many children diagnoses are made much later. A delay in diagnosis translates into a missed opportunity to provide early intervention services and to improve outcomes. The aim of the current study was to review the literature on early detection approaches in primary care and other community settings in the United States. METHODS: A search was conducted of the peer-reviewed and gray literature to identify studies published from January 1990 through January 2013 testing approaches to enhance the early detection of autism in community settings in the United States. RESULTS: The search identified 40 studies describing 35 approaches, which were grouped into the following categories: awareness (n = 4), routine screening (n = 21), and practice improvement to enhance screening (n = 10). Awareness approaches were associated with positive changes in knowledge of autism-related topics. Routine screening yielded high or increased rates of screening and referrals; however, few studies assessed the effect of screening on age at diagnosis or services enrollment. Practice improvement approaches resulted in increased screening and referral rates and highlighted the importance of adopting a multipronged approach to enhance early detection. CONCLUSIONS: Although studies that tested screening approaches in community settings found positive results, the effectiveness of such efforts on reducing time to diagnosis and services enrollment remains largely untested. The fact that few studies reported outcomes beyond rates of referral indicates the need for enhanced methodological rigor, particularly with respect to length of follow-up and quality of measures used.

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3. Holmboe K, Rijsdijk FV, Hallett V, Happe F, Plomin R, Ronald A. {{Strong genetic influences on the stability of autistic traits in childhood}}. {J Am Acad Child Adolesc Psychiatry};2014 (Feb);53(2):221-230.

OBJECTIVE: Disorders on the autism spectrum, as well as autistic traits in the general population, have been found to be both highly stable across age and highly heritable at individual ages. However, little is known about the overlap in genetic and environmental influences on autistic traits across age and the contribution of such influences to trait stability itself. The present study investigated these questions in a general population sample of twins. METHOD: More than 6,000 twin pairs were rated on an established scale of autistic traits by their parents at 8, 9, and 12 years of age and by their teachers at 9 and 12 years of age. Data were analyzed using structural equation modeling. RESULTS: The results indicated that, consistently across raters, not only were autistic traits stable, and moderately to highly heritable at individual ages, but there was also a high degree of overlap in genetic influences across age. Furthermore, autistic trait stability could largely be accounted for by genetic factors, with the environment unique to each twin playing a minor role. The environment shared by twins had virtually no effect on the longitudinal stability in autistic traits. CONCLUSIONS: Autistic traits are highly stable across middle childhood. and this stability is caused primarily by genetic factors.

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4. Ikuta T, Shafritz KM, Bregman J, Peters BD, Gruner P, Malhotra AK, Szeszko PR. {{Abnormal cingulum bundle development in autism: A probabilistic tractography study}}. {Psychiatry Res};2014 (Jan 30);221(1):63-68.

There is now considerable evidence that white matter abnormalities play a role in the neurobiology of autism. Little research has been directed, however, at understanding (a) typical white matter development in autism and how this relates to neurocognitive impairments observed in the disorder. In this study we used probabilistic tractography to identify the cingulum bundle in 21 adolescents and young adults with Autism Spectrum Disorder (ASD), and 21 age- and sex-matched healthy volunteers. We investigated group differences in the relationships between age and fractional anisotropy, a putative measure of white matter integrity, within the cingulum bundle. Moreover, in a preliminary investigation, we examined the relationship between cingulum fractional anisotropy and executive functioning using the Behavior Rating Inventory of Executive Function (BRIEF). The ASD participants demonstrated significantly lower fractional anisotropy within the cingulum bundle compared to the typically developing volunteers. There was a significant group-by-age interaction such that the ASD group did not show the typical age-associated increases in fractional anisotropy observed among healthy individuals. Moreover, lower fractional anisotropy within the cingulum bundle was associated with worse BRIEF behavioral regulation index scores in the ASD group. The current findings implicate a dysregulation in cingulum bundle white matter development occurring in late adolescence and early adulthood in ASD, and suggest that greater disturbances in this trajectory are associated with executive dysfunction in ASD.

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5. Kaale A, Fagerland MW, Martinsen EW, Smith L. {{Preschool-based social communication treatment for children with autism: 12-month follow-up of a randomized trial}}. {J Am Acad Child Adolesc Psychiatry};2014 (Feb);53(2):188-198.

OBJECTIVE: This study reports 12-month follow-up data from a randomized controlled trial of preschool-based social communication treatment for young children with autism. METHOD: A total of 61 children (48 males) with autism, 29 to 60 months of age, had earlier been randomized either to 8 weeks of preschool-based social communication treatment in addition to standard preschool program (n = 34) or to standard preschool program only (n = 27). Significant short-term effects on targeted social communication skills have previously been published. Long-term gains in social communication, language and global social functioning and communication were assessed from video-taped preschool teacher-child and mother-child interactions, Early Social Communication Scales, Reynell Developmental Language Scale, and Social Communication Questionnaire. RESULTS: Compared with those in the control group, the treated children achieved significantly larger improvements in joint attention and joint engagement from baseline to 12-month follow-up. However, no effects were detected on language and global ratings of social functioning and communication. The treatment effect on child initiation of joint attention increased with increasing level of sociability at baseline, whereas nonverbal IQ and expressive language had no moderating effect. CONCLUSIONS: This study is the first to show that, similar to specialist-delivered treatment, preschool-based treatment may produce small but possibly clinically important long-term changes in social communication in young children with autism. The treatment did not affect language and global ratings of social functioning and communication. More studies are needed to better understand whether treatment effects may be improved by increasing the intensity and duration of the treatment. Clinical trial registration information-Joint Attention Intervention and Young Children With Autism; http://clinicaltrials.gov/; NCT00378157.

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6. Kasari C. {{Are we there yet? The state of early prediction and intervention in autism spectrum disorder}}. {J Am Acad Child Adolesc Psychiatry};2014 (Feb);53(2):133-134.

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7. Mirenda P. {{Revisiting the Mosaic of Supports Required for Including People with Severe Intellectual or Developmental Disabilities in their Communities}}. {Augment Altern Commun};2014 (Jan 28)
The goal of this Forum article is to examine the progress that has been made over the past 20 years in providing opportunities for community living, inclusive schooling, and integrated employment to people with severe intellectual or developmental disabilities who rely on Augmentative and Alternative Communication (AAC). Recent research and statistical data from the United States and elsewhere are used to describe both the gains that have been made and the challenges that still remain. Directions for future advocacy and research efforts are also included.

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8. Nikolac Perkovic M, Nedic Erjavec G, Stefulj J, Muck-Seler D, Pivac N, Kocijan Hercigonja D, Hranilovic D, Curkovic M, Dodig-Curkovic K. {{Association between the polymorphisms of the selected genes encoding dopaminergic system with ADHD and autism}}. {Psychiatry Res};2014 (Jan 30);215(1):260-261.

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9. Park J, Ro M, Pyun JA, Nam M, Bang HJ, Yang JW, Choi KS, Kim SK, Chung JH, Kwack K. {{MTHFR 1298A>C is a risk factor for autism spectrum disorder in the Korean population}}. {Psychiatry Res};2014 (Jan 30);215(1):258-259.

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10. Tsunemi K, Tamura A, Ogawa S, Isomura T, Ito H, Ida M, Masataka N. {{Intensive exposure to narrative in story books as a possibly effective treatment of social perspective-taking in schoolchildren with autism}}. {Front Psychol};2014;5:2.

One of the major characteristics of autism is impairment of communication and socialization. While such impairment per se has been well documented, research into effective interventions for children with this developmental disorder is still limited. Here we present preliminary evidence for the possibility of improvement of the capability of social perspective-taking in schoolchildren with autism by having intensive experience with narrative, in which they were exposed to narrative in story books read by their parents over a consecutive 5- to 6-day-period. When their capability was evaluated on the basis of a conventional role-taking task, the mean score tended to increase after the exposure as compared to before the exposure, whereas such a change was not recorded in children who did not experience such exposure. These effects were confirmed when the children were retested 4 months later. Although preliminary, the current study represents a step toward the development of more effective social perspective-taking interventions for children with autism.

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11. Volkmar F, Siegel M, Woodbury-Smith M, King B, McCracken J, State M. {{Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder}}. {J Am Acad Child Adolesc Psychiatry};2014 (Feb);53(2):237-257.

Autism spectrum disorder is characterized by patterns of delay and deviance in the development of social, communicative, and cognitive skills that arise in the first years of life. Although frequently associated with intellectual disability, this condition is distinctive in its course, impact, and treatment. Autism spectrum disorder has a wide range of syndrome expression and its management presents particular challenges for clinicians. Individuals with an autism spectrum disorder can present for clinical care at any point in development. The multiple developmental and behavioral problems associated with this condition necessitate multidisciplinary care, coordination of services, and advocacy for individuals and their families. Early, sustained intervention and the use of multiple treatment modalities are indicated.

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12. Wittkowski KM, Sonakya V, Bigio B, Tonn MK, Shic F, Ascano M, Nasca C, Gold-Von Simson G. {{A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism}}. {Transl Psychiatry};2014;4:e354.

The prevalence of autism spectrum disorders (ASDs) has increased 20-fold over the past 50 years to >1% of US children. Although twin studies attest to a high degree of heritability, the genetic risk factors are still poorly understood. We analyzed data from two independent populations using u-statistics for genetically structured wide-locus data and added data from unrelated controls to explore epistasis. To account for systematic, but disease-unrelated differences in (non-randomized) genome-wide association studies (GWAS), a correlation between P-values and minor allele frequency with low granularity data and for conducting multiple tests in overlapping genetic regions, we present a novel study-specific criterion for ‘genome-wide significance’. From recent results in a comorbid disease, childhood absence epilepsy, we had hypothesized that axonal guidance and calcium signaling are involved in autism as well. Enrichment of the results in both studies with related genes confirms this hypothesis. Additional ASD-specific variations identified in this study suggest protracted growth factor signaling as causing more severe forms of ASD. Another cluster of related genes suggests chloride and potassium ion channels as additional ASD-specific drug targets. The involvement of growth factors suggests the time of accelerated neuronal growth and pruning at 9-24 months of age as the period during which treatment with ion channel modulators would be most effective in preventing progression to more severe forms of autism. By extension, the same computational biostatistics approach could yield profound insights into the etiology of many common diseases from the genetic data collected over the last decade.

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