Pubmed du 31/03/11

Pubmed du jour

2011-03-31 12:03:50

1. Andanson J, Pourre F, Maffre T, Raynaud JP. {{[Social skills training groups for children and adolescents with Asperger syndrome: A review.]}}. {Arch Pediatr};2011 (Mar 31)

BACKGROUND: First described in 1944 by Hans Asperger, Asperger syndrome (AS) is now considered in international diagnostic classifications as one of the pervasive developmental disorders (PDD) or autism spectrum disorders (ASD). The main symptoms of AS are severe impairment in social interaction and communication, and restricted interests, without significant delay in cognitive and language development. Its prevalence is not clearly established but might be around 0.26 per 1000. Symptoms of high-functioning autism (HFA), which is not an official diagnostic category, are quite similar. Children and adolescents with AS or HFA mostly have a social skills deficit, in connection with a lack of understanding concerning the rules governing social interactions. This deficit often leads to social isolation and peer rejection, which can alter their quality of life. Their lack of social skills can also have effects on success at school or work, integration among peers and mental health. According to recent guidelines of the French national authority for health (Haute autorite de sante, HAS) about the special needs of persons with PDD, professionals have to develop evidence-based interventions, emphasizing social interactions and participation, as described by the international classification of functioning, disability and health (ICF): social and professional participation as well as participation in leisure activities, clubs and societies, etc. OBJECTIVES: To explore the studies that give evidence of the value of these social skills training groups, to review the methods and programs worked out in these groups, and to highlight the best general operating principles to be adopted and combined. METHODS: Systematic searches of electronic databases, journals, and reference lists identified 12 studies published since 1984, involving social competence group interventions, led by psychotherapists who were trained in cognitive behavioral therapies (CBT), for children and adolescents from 6 to 18years old with a diagnosis of AS or HFA. RESULTS: According to these 12 studies, these interventions are useful and significantly effective. Adaptation of their contents and educational means to how children and adolescents with AS function is necessary to facilitate learning and decrease anxiety. Concerning the groups’ setting, most of these studies insist on the value of working with a small number of participants and creating a friendly, predictable and structured environment (even the progress of the sessions itself has to be structured). The programs’ contents should ally didactic teaching and training exercises, which should be diverse and adapted to the objectives. The techniques usually applied in CBT (role plays, modeling, problem-solving strategies, etc.), must be completed with strategies known to be appropriate for children and adolescents with ASD, such as social scenarios. CONCLUSIONS: Although new studies are necessary to assess the generalization and long-term efficacy of such approaches, this review confirms the advantages of the main methods of social skills training groups for children and adolescents with AS. It opens up perspectives to developing new programs of social skills training groups, integrating various approaches, dimensions and objectives, working on a long-term basis.

2. Batty M, Meaux E, Wittemeyer K, Roge B, Taylor MJ. {{Early processing of emotional faces in children with autism: An event-related potential study}}. {J Exp Child Psychol};2011 (Mar 31)

Social deficits are one of the most striking manifestations of autism spectrum disorders (ASDs). Among these social deficits, the recognition and understanding of emotional facial expressions has been widely reported to be affected in ASDs. We investigated emotional face processing in children with and without autism using event-related potentials (ERPs). High-functioning children with autism (n=15, mean age=10.5+/-3.3 years) completed an implicit emotional task while visual ERPs were recorded. Two groups of typically developing children (chronological age-matched and verbal equivalent age-matched [both ns=15, mean age=7.7+/-3.8 years]) also participated in this study. The early ERP responses to faces (P1 and N170) were delayed, and the P1 was smaller in children with autism than in typically developing children of the same chronological age, revealing that the first stages of emotional face processing are affected in autism. However, when matched by verbal equivalent age, only P1 amplitude remained affected in autism. Our results suggest that the emotional and facial processing difficulties in autism could start from atypicalities in visual perceptual processes involving rapid feedback to primary visual areas and subsequent holistic processing.

3. Bolte S, Duketis E, Poustka F, Holtmann M. {{Sex differences in cognitive domains and their clinical correlates in higher-functioning autism spectrum disorders}}. {Autism};2011 (Mar 31)

Despite the skewed sex ratio, few studies have addressed possible cognitive sex differences in autism spectrum disorders (ASDs). This study compared visual attention to detail (ATTD) and selected executive functions (EF) in 35 males and 21 females with higher-functioning ASD and unaffected sibling controls. Females with ASD outperformed males on EF as assessed by the Trail Making Test B-A. Males with ASD showed superior performance for ATTD as measured by the Block Design Test (BD) when compared with females. EF difficulties in males were correlated with more stereotypic behaviours and interests on the Autism Diagnostic Interview-Revised or the Autism Diagnostic Observation Schedule. The results indicated clinically meaningful cognitive sex differences in ASD, particularly an association between EF and stereotypic behaviours and interests. ATTD as a potential basis for specific cognitive strengths (e.g. scientific/savant skills) might be more pronounced in males with ASD.

4. Humphrey N, Symes W. {{Peer interaction patterns among adolescents with autistic spectrum disorders (ASDs) in mainstream school settings}}. {Autism};2011 (Mar 31)

The aim of the current study was to document the peer interaction patterns of students with autistic spectrum disorders in mainstream settings. Structured observations of a group of 38 adolescents with ASD drawn from 12 mainstream secondary schools were conducted over a two-day period and data compared with those of school, age, and gender matched comparison groups of 35 adolescents with dyslexia and 38 with no identified special educational needs (the ASD and dyslexia groups were also matched on SEN provision). Frequency and duration of peer interaction behaviours were coded. In terms of duration, multivariate analyses of variance (MANOVAs) indicated that participants with ASD spent more time engaged in solitary behaviours, less time engaged in co-operative interaction with peers, and more time engaging in reactive aggression towards peers than either comparison group. In terms of frequency, similar patterns emerged, but additionally participants with ASD engaged in fewer instances of rough/vigorous play, and were subject to more instances of social initiation and instrumental verbal aggression by peers than either comparison group. The findings of the current study support the authors’ theoretical model of peer group interaction processes for individuals with ASD, and have implications for both social skills training and the development of peer awareness and sensitivity. Limitations are noted.

5. Jones RM, Wheelwright S, Farrell K, Martin E, Green R, Di Ceglie D, Baron-Cohen S. {{Brief Report: Female-To-Male Transsexual People and Autistic Traits}}. {J Autism Dev Disord};2011 (Mar 30)

The ‘extreme male brain’ theory suggests females with Autism Spectrum Conditions are hyper-masculinized in certain aspects of behavior. We predicted that females with Gender Identity Disorder (who are masculinized) would have elevated Autism Spectrum Quotient (AQ) scores. AQ scores from five groups were compared: (1) n = 61 transmen (female-to-male transsexual people); (2) n = 198 transwomen (male-to-female transsexual people); (3) n = 76 typical males; (4) n = 98 typical females; and (5) n = 125 individuals with Asperger Syndrome (AS). Transmen had a higher mean AQ than typical females, typical males and transwomen, but lower than individuals with AS. Transmen have more autistic traits and may have had difficulty socializing with female peers and thus found it easier to identify with male peer groups.

6. Lecavalier L, Gadow KD, Devincent CJ, Houts CR, Edwards MC. {{Validity of DSM-IV syndromes in preschoolers with autism spectrum disorders}}. {Autism};2011 (Mar 31)

Behavior and emotional problems are often present in very young children with autism spectrum disorders (ASDs) but their nosology has been the object of scant empirical attention. The objective of this study was to assess the construct validity of select Diagnostic and Statistical Manual of Mental Disorders (DSM)-defined syndromes (ADHD, ODD, Mood disorder) in preschoolers with ASD (N = 229). Parents and teachers completed the Early Childhood Inventory-4, a behavior rating scale based on the DSM-IV, and ratings were submitted to confirmatory factor analysis. Results generally supported the DSM nosology in this population. There was some evidence that parent ratings were associated with better fit indices (e.g. RSMEA = .062) than teachers (e.g. RMSEA = .083). For both raters, fit indices appeared to improve when the ADHD factor was broken into its constituent parts. However, hyperactivity symptoms accounted for little unique additional variance in the model. Findings lend support to the DSM as a conceptual model for behavioral syndromes in preschoolers with ASDs and also reinforce the importance of source-specificity when considering psychiatric disorders in children with ASDs.

7. Mouridsen SE, Hauschild KM. {{Autism spectrum disorders in siblings of children with a developmental language disorder}}. {Logoped Phoniatr Vocol};2011 (Mar 29)

Abstract Little is known about the familial characteristics of children diagnosed during childhood as having a developmental language disorder (DLD). This study aimed to investigate the prevalence of autism spectrum disorders (ASD) in siblings of probands diagnosed during childhood as having a DLD. In order to estimate the prevalence of ASD, 908 siblings of 469 probands diagnosed during childhood as having a DLD, and 3,802 siblings of 2,345 controls from the general population, without a known history of DLD, were screened for ASD through the nationwide Danish Psychiatric Central Register (DPCR). The mean length of observation was 35.2 years and 34.8 years, respectively, and the mean age at follow-up 38.4 years and 37.4 years, respectively. At follow-up one sibling (0.1%) in the DLD case group and eight siblings (0.2%) in the comparison group were known in the DPCR with a diagnosis of any ASD (P = 0.53; OR = 0.52; 95%CI 0.07-4.19). Thus our results provide no support for a familial association between DLD and ASD.

8. Nadel J, Aouka N, Coulon N, Gras-Vincendon A, Canet P, Fagard J, Bursztejn C. {{Yes they can! An approach of observational learning in low-functioning children with autism}}. {Autism};2011 (Mar 31)

Learning by doing and learning by observing are two facets of the tight coupling between perception and action discovered at the brain level. Developmental studies of observational learning still remain rare and even more rare are studies documenting the capacities of low-functioning children with autism to learn by observation. In the first investigation of this question, twenty nonverbal children with autism with a developmental age of 24 and 36 months, and twenty matched typical children, were presented with an experimental box requiring that a hierarchical sequence of subgoals be performed before it could be opened. A 9-day testing procedure included four presentations of the red box and two video demonstrations of how to open it. Two scores were computed, one concerning the number of sub-goals fulfilled and the other the relevant manipulations of the material. Within-group analyses revealed that only the typical children learned partly or fully the sequence of subgoals after the first video-demonstration. The addition of a second demonstration allowed the two subgroups with autism to learn partly or fully the sequence of subgoals. The differences between learning to manipulate and learning to produce a goal are discussed in terms of relationships between understanding actions and understanding action-effect relations.

9. Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, O’Connor KL, Malhotra D, McCarthy SE, Stray SM, Taylor SM, Sebat J, King B, King MC, McClellan JM. {{Reduced transcript expression of genes affected by inherited and de novo CNVs in autism}}. {Eur J Hum Genet};2011 (Mar 30)

Individuals with autism are more likely to carry rare inherited and de novo copy number variants (CNVs). However, further research is needed to establish which CNVs are causal and the mechanisms by which these CNVs influence autism. We examined genomic DNA of children with autism (N=41) and healthy controls (N=367) for rare CNVs using a high-resolution array comparative genomic hybridization platform. We show that individuals with autism are more likely to harbor rare CNVs as small as approximately 10 kb, a threshold not previously detectable, and that CNVs in cases disproportionately affect genes involved in transcription, nervous system development, and receptor activity. We also show that a subset of genes that have known or suspected allele-specific or imprinting effects and are within rare-case CNVs may undergo loss of transcript expression. In particular, expression of CNTNAP2 and ZNF214 are decreased in probands compared with their unaffected transmitting parents. Furthermore, expression of PRODH and ARID1B, two genes affected by de novo CNVs, are decreased in probands compared with controls. These results suggest that for some genes affected by CNVs in autism, reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment.European Journal of Human Genetics advance online publication, 30 March 2011; doi:10.1038/ejhg.2011.24.

10. Ortega-Garcia JA, Angulo MG, Sobrino-Najul EJ, Soldin OP, Puche-Mira A, Martinez-Salcedo E, Claudio L. {{Prenatal exposure of a girl with autism spectrum disorder to ‘horsetail’ (Equisetum arvense) herbal remedy and alcohol: a case report}}. {J Med Case Reports};2011 (Mar 31);5(1):129.

ABSTRACT: INTRODUCTION: Autism is a complex neurodevelopmental disorder in which the interactions of genetic, epigenetic and environmental influences are thought to play a causal role. In humans, throughout embryonic and fetal life, brain development is exquisitely susceptible to injury caused by exposure to toxic chemicals present in the environment. Although the use of herbal supplements during pregnancy is relatively common, little information is available on their association with fetal neurodevelopment. This is, to the best of our knowledge, the first report in the literature to associate a new plausible mechanism of neurodevelopmental toxicity with a case of autism spectrum disorder through a vitamin deficiency potentiated by concomitant use of herbal supplements and ethanol exposure. CASE PRESENTATION: We describe the pediatric environmental history of a three-year-old Caucasian girl with an autism spectrum disorder. We utilized her pediatric environmental history to evaluate constitutional, genetic, and environmental factors pertinent to manifestation of neurodevelopment disorders. Both parents reported prenatal exposure to several risk factors of interest. A year prior to conception the mother began a weight loss diet and ingested 1200mg/day of ‘horsetail’ (Equisetum arvense) herbal remedies containing thiaminase, an enzyme that with long-term use can lead to vitamin deficiency. The mother reported a significant weight loss during the pregnancy and a deficiency of B-complex vitamins. Thiamine (vitamin B1) deficiency could have been potentiated by the horsetail’s thiaminase activity and ethanol exposure during pregnancy. No other risk factors were identified. CONCLUSIONS: A detailed and careful pediatric environmental history, which includes daily intake, herbal remedies and ethanol exposure, should be obtained from all patients with autism spectrum disorder. Maternal consumption of ethanol and of herbal supplements with suspected or potential toxicity should be avoided during pregnancy. The prospective parents should perform preconception planning before pregnancy.

11. Tansey KE, Hill MJ, Cochrane LE, Gill M, Anney RJ, Gallagher L. {{Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism}}. {Mol Autism};2011 (Mar 31);2(1):3.

ABSTRACT: BACKGROUND: Arginine vasopressin (AVP) has been hypothesized to play a role in aetiology of autism based on a demonstrated involvement in the regulation of social behaviours. The arginine vasopressin receptor 1A gene (AVPR1A) is widely expressed in the brain and is considered to be a key receptor for regulation of social behaviour. Moreover, genetic variation at AVPR1A has been reported to be associated with autism. Evidence from non-human mammals implicates variation in the 5′-flanking region of AVPR1A in variable gene expression and social behaviour. METHODS: We examined four tagging single nucleotide polymorphisms (SNPs) (rs3803107, rs1042615, rs3741865, rs11174815) and three microsatellites (RS3, RS1 and AVR) at the AVPR1A gene for association in an autism cohort from Ireland. Two 5′-flanking region polymorphisms in the human AVPR1A, RS3 and RS1, were also tested for their effect on relative promoter activity. RESULTS: The short alleles of RS1 and the SNP rs11174815 show weak association with autism in the Irish population (P = 0.036 and P = 0.008, respectively). Both RS1 and RS3 showed differences in relative promoter activity by length. Shorter repeat alleles of RS1 and RS3 decreased relative promoter activity in the human neuroblastoma cell line SH-SY5Y. CONCLUSIONS: These aligning results can be interpreted as a functional route for this association, namely that shorter alleles of RS1 lead to decreased AVPR1A transcription, which may proffer increased susceptibility to the autism phenotype.

12. Turner-Brown LM, Lam KS, Holtzclaw TN, Dichter GS, Bodfish JW. {{Phenomenology and measurement of circumscribed interests in autism spectrum disorders}}. {Autism};2011 (Mar 31)

Circumscribed interests (CI) are important and understudied symptoms that affect individuals with autism spectrum disorders (ASD). The present study sought to develop quantitative measures of the content, intensity and functional impairment of CI in 50 children with high-functioning ASD compared to an age-, IQ-, and gender-matched sample of 50 typically developing (TD) peers. The Interests Scale, a parent-rating questionnaire, and the Interview for Repetitive Behaviors, a semi-structured interview, were used to assess CI. Groups did not differ on the number of interests children held, but they did differ on types of interests and impairment associated with them. The interests of ASD participants were more likely to be nonsocial in nature (e.g. mechanical systems) than TD participants. Parents of children with ASD endorsed higher degrees of functional impairment on metrics including frequency, interference, resistance when interrupted, flexibility, and accommodation required, as well as less involvement of other people, than parents of children with TD. These findings suggest that interests of individuals with ASD differ qualitatively and in intensity from individuals with TD. The present study offers further support for the notion that CI reflect a clinically significant feature of ASD that warrants intervention in some children.

13. Wiggins LD, Robins DL, Adamson LB, Bakeman R, Henrich CC. {{Support for a Dimensional View of Autism Spectrum Disorders in Toddlers}}. {J Autism Dev Disord};2011 (Mar 30)

We examined whether clinically distinct subgroups can be derived from a sample of toddlers (n = 186) who failed the Modified Checklist for Autism in Toddlers, received a comprehensive clinical evaluation, and were diagnosed with an autism spectrum disorder (ASD). Three subgroups emerged from cluster analysis distinguished by (a) social, communication, and intellectual skills and (b) the rate and intensity of repetitive behaviors and abnormal sensory response. Preoccupations, compulsions, and rituals did not distinguish resultant subgroups. These results support a dimensional diagnostic view of ASDs in toddlers since subgroup differences were based on symptom severity rather than different symptom profiles. Results also identify specific types and levels of behavioral deficit relevant to toddler populations. Implications for early diagnosis are discussed.