Pubmed du 1/02/09

mardi 3 février 2009

1. Arnold JE, Bennetto L, Diehl JJ. Reference production in young speakers with and without autism : effects of discourse status and processing constraints. Cognition ;2009 (Feb) ;110(2):131-146.

We examine the referential choices (pronouns/zeros vs. names/descriptions) made during a narrative by high-functioning children and adolescents with autism and a well-matched typically developing control group. The process of choosing appropriate referring expressions has been proposed to depend on two areas of cognitive functioning : (a) judging the attention and knowledge of one’s interlocutor, and (b) the use of memory and attention mechanisms to represent the discourse situation. We predicted possible group differences, since autism is often associated with deficits in (a) mentalizing and (b) memory and attention, as well as a more general tendency to have difficulty with the pragmatic aspects of language use. Results revealed that some of the participants with autism were significantly less likely to produce pronouns or zeros in some discourse contexts. However, the difference was only one of degree. Overall, all participants in our analysis exhibited fine-grained sensitivity to the discourse context. Furthermore, referential choices for all participants were modulated by factors related to the cognitive effort of language production.

2. Auyeung B, Baron-Cohen S, Ashwin E, Knickmeyer R, Taylor K, Hackett G. Fetal testosterone and autistic traits. Br J Psychol ;2009 (Feb) ;100(Pt 1):1-22.

Studies of amniotic testosterone in humans suggest that fetal testosterone (fT) is related to specific (but not all) sexually dimorphic aspects of cognition and behaviour. It has also been suggested that autism may be an extreme manifestation of some male-typical traits, both in terms of cognition and neuroanatomy. In this paper, we examine the possibility of a link between autistic traits and fT levels measured in amniotic fluid during routine amniocentesis. Two instruments measuring number of autistic traits (the Childhood Autism Spectrum Test (CAST) and the Child Autism Spectrum Quotient (AQ-Child)) were completed by these women about their children (N=235), ages 6-10 years. Intelligence Quotient (IQ) was measured in a subset of these children (N=74). fT levels were positively associated with higher scores on the CAST and AQ-Child. This relationship was seen within sex as well as when the sexes were combined, suggesting this is an effect of fT rather than of sex per se. No relationships were found between overall IQ and the predictor variables, or between IQ and CAST or AQ-Child. These findings are consistent with the hypothesis that prenatal androgen exposure is related to children exhibiting more autistic traits. These results need to be followed up in a much larger sample to test if clinical cases of ASC have elevated fT.

3. Barbeau EB, Mendrek A, Mottron L. Are autistic traits autistic ? Br J Psychol ;2009 (Feb) ;100(Pt 1):23-28.

According to the extreme male brain theory of autism (Baron-Cohen, 2002), autistic traits would be extreme manifestations of typical male behaviours. The Auyeung et al. (2009) paper establishes a link between autistic traits and higher fetal testosterone (fT) levels in typically developing children. We argue that the construct behind this relationship needs further investigation. First, the link between fT levels and sexually dimorphic traits, that are for example, associated with empathizing and systemizing, is controversial. Likewise, describing autistic behaviours as being extreme male-like is debatable. The cerebral hemisphere laterality pattern of individuals with autism also seems to differ from the pattern typically observed in males. Moreover, the parallel that should exist, according to the fT theory, between individuals with autism and individuals with congenital adrenal hyperplasia (CAH), because of their high fT levels, is unclear. The theory implying fT levels in autism fails to account for a big part of autism, and the link between fT and normal ’autistic traits’ hardly demonstrates the causal link between fT and autism.

4. Baron-Cohen S, Auyeung B, Ashwin E, Knickmeyer R. Fetal testosterone and autistic traits : A response to three fascinating commentaries. Br J Psychol ;2009 (Feb) ;100(Pt 1):39-47.

This article is an author response to three previous commentaries on ’Fetal testosterone and autistic traits’ (Auyeung et al., 2009).

5. Esposito G, Venuti P, Maestro S, Muratori F. An exploration of symmetry in early autism spectrum disorders : analysis of lying. Brain Dev ;2009 (Feb) ;31(2):131-138.

BACKGROUND : Early identification of children with autism spectrum disorders (ASD) is recognized as a critical aspect of their medical management and treatment. Movement disorders are considered one of the first signs which probably precede social or linguistic abnormalities. Objectives : to verify, through observational methods, the possibility of distinguishing infants with ASD from infants with typical development or with mental retardation by movement. METHODS : The Eshkol-Wachman movement analysis system, which analyses static symmetry (SS) and dynamic symmetry (DS) during lying, was applied to retrospective home videos regarding the first 5 months of life of children with ASD (n=18), typical development (n=18), or developmental delay (n=12). RESULTS : Significant differences between ASD and the two control groups were found for both SS (p<.001) and DS (p<.01). Within ASD two groups of infants could be differentiated on the basis of the higher (HLS) or the lower (LLS) levels of symmetry. Early onset ASD are more likely to belong to the LLS group. CONCLUSION : We suggest that motor functioning may define specific subgroups of early ASD which are related to different pathways to the syndrome. LLS could be used as an early indicator of potential autism since the first months of life.

6. Fatemi SH, Reutiman TJ, Folsom TD, Thuras PD. GABA(A) Receptor Downregulation in Brains of Subjects with Autism. J Autism Dev Disord ;2009 (Feb) ;39(2):223-230.

Gamma-aminobutyric acid A (GABA(A)) receptors are ligand-gated ion channels responsible for mediation of fast inhibitory action of GABA in the brain. Preliminary reports have demonstrated altered expression of GABA receptors in the brains of subjects with autism suggesting GABA/glutamate system dysregulation. We investigated the expression of four GABA(A) receptor subunits and observed significant reductions in GABRA1, GABRA2, GABRA3, and GABRB3 in parietal cortex (Brodmann’s Area 40 (BA40)), while GABRA1 and GABRB3 were significantly altered in cerebellum, and GABRA1 was significantly altered in superior frontal cortex (BA9). The presence of seizure disorder did not have a significant impact on GABA(A) receptor subunit expression in the three brain areas. Our results demonstrate that GABA(A) receptors are reduced in three brain regions that have previously been implicated in the pathogenesis of autism, suggesting widespread GABAergic dysfunction in the brains of subjects with autism.

7. Frye RE, Beauchamp MS. Receptive language organization in high-functioning autism. J Child Neurol ;2009 (Feb) ;24(2):231-236.

One of the core defining components of autism is impairment in communication, typically manifested as a delay in speech development. To date, neuroimaging studies have shed limited light on the mechanisms behind delay in speech development in autism. We performed magnetoencephalographic-based auditory language mapping in 2 cases of high-functioning autism. Overall, 2 distinct characteristics were found, such as the use of atypical language pathways and cortical hyperexcitability. These neurophysiological findings parallel those reported in 2 other developmental disorders, developmental dyslexia and Rett syndrome. We discuss common mechanisms that may account for cognitive delays across these developmental disorders.

8. Geier DA, Kern JK, Garver CR, Adams JB, Audhya T, Geier MR. A prospective study of transsulfuration biomarkers in autistic disorders. Neurochem Res ;2009 (Feb) ;34(2):386-393.

The goal of this study was to evaluate transsulfuration metabolites in participants diagnosed with autism spectrum disorders (ASDs). Transsulfuration metabolites, including : plasma reduced glutathione (GSH), plasma oxidized glutathione (GSSG), plasma cysteine, plasma taurine, plasma sulfate, and plasma free sulfate among participants diagnosed with ASDs (n = 38) in comparison to age-matched neurotypical controls were prospectively evaluated. Testing was conducted using Vitamin Diagnostics, Inc. (CLIA-approved). Participants diagnosed with ASDs had significantly (P < 0.001) decreased plasma reduced GSH, plasma cysteine, plasma taurine, plasma sulfate, and plasma free sulfate relative to controls. By contrast, participants diagnosed with ASDs had significantly (P < 0.001) increased plasma GSSG relative to controls. The present observations are compatible with increased oxidative stress and a decreased detoxification capacity, particularly of mercury, in patients diagnosed with ASDs. Patients diagnosed with ASDs should be routinely tested to evaluate transsulfuration metabolites, and potential treatment protocols should be evaluated to potentially correct the transsulfuration abnormalities observed.

9. Geurts HM, Corbett B, Solomon M. The paradox of cognitive flexibility in autism. Trends Cogn Sci ;2009 (Feb) ;13(2):74-82.

We present an overview of current literature addressing cognitive flexibility in autism spectrum disorders. Based on recent studies at multiple sites, using diverse methods and participants of different autism subtypes, ages and cognitive levels, no consistent evidence for cognitive flexibility deficits was found. Researchers and clinicians assume that inflexible everyday behaviors in autism are directly related to cognitive flexibility deficits as assessed by clinical and experimental measures. However, there is a large gap between the day-to-day behavioral flexibility and that measured with these cognitive flexibility tasks. To advance the field, experimental measures must evolve to reflect mechanistic models of flexibility deficits. Moreover, ecologically valid measures are required to be able to resolve the paradox between cognitive and behavioral inflexibility.

10. Hallahan B, Daly EM, McAlonan G, Loth E, Toal F, O’Brien F, Robertson D, Hales S, Murphy C, Murphy KC, Murphy DG. Brain morphometry volume in autistic spectrum disorder : a magnetic resonance imaging study of adults. Psychol Med ;2009 (Feb) ;39(2):337-346.

BACKGROUND : Several prior reports have found that some young children with autism spectrum disorder [ASD ; including autism and Asperger’s syndrome and pervasive developmental disorder - not otherwise specified (PDD-NOS)] have a significant increase in head size and brain weight. However, the findings from older children and adults with ASD are inconsistent. This may reflect the relatively small sample sizes that were studied, clinical heterogeneity, or age-related brain differences.MethodHence, we measured head size (intracranial volume), and the bulk volume of ventricular and peripheral cerebrospinal fluid (CSF), lobar brain, and cerebellum in 114 people with ASD and 60 controls aged between 18 and 58 years. The ASD sample included 80 people with Asperger’s syndrome, 28 with autism and six with PDD-NOS. RESULTS : There was no significant between-group difference in head and/or lobar brain matter volume. However, compared with controls, each ASD subgroup had a significantly smaller cerebellar volume, and a significantly larger volume of peripheral CSF. CONCLUSIONS : Within ASD adults, the bulk volume of cerebellum is reduced irrespective of diagnostic subcategory. Also the significant increase in peripheral CSF may reflect differences in cortical maturation and/or ageing.

11. Herndon AC, Diguiseppi C, Johnson SL, Leiferman J, Reynolds A. Does nutritional intake differ between children with autism spectrum disorders and children with typical development ? J Autism Dev Disord ;2009 (Feb) ;39(2):212-222.

Consumption of macro- and micronutrients and food group servings by children with autism spectrum disorders (ASDs ; n = 46) and typical development (n = 31) were compared using 3-day diet records. Children with ASDs consumed significantly more vitamin B6 and E and non-dairy protein servings, less calcium, and fewer dairy servings (p < .05). The significantly lower dairy serving intake persisted after controlling for child age and sex and parental dietary restrictions, and excluding children on the gluten-free casein-free (GFCF) diet. Large proportions of children in both groups did not meet national recommendations for daily intake of fiber, calcium, iron, vitamin E, and vitamin D.

12. Inglese MD. Caring for children with autism spectrum disorder. Part II : screening, diagnosis, and management. J Pediatr Nurs ;2009 (Feb) ;24(1):49-59.

Recent emphasis on the importance of early identification and intervention for children with autism spectrum disorder (ASD) highlights the need for nurses in the community and primary care settings to learn to screen for ASD in children. In addition, given that ASD now affects 1 in 150 children, it is probable that nurses in a variety of settings, at all practice levels, will encounter children with ASD. Nurses need to be able to support families, educate parents, manage basic issues relevant to ASD, and advocate for these children and their families.

13. Inglese MD, Elder JH. Caring for children with autism spectrum disorder. Part I : prevalence, etiology, and core features. J Pediatr Nurs ;2009 (Feb) ;24(1):41-48.

Autism spectrum disorder (ASD) affects 1 in 150 children and has been gaining national attention over the past decade. Given the prevalence of this disorder, there is a high probability that pediatric nurses will care for a child with ASD, regardless of the setting in which they work. Children with ASD traverse the primary care outpatient setting, schools, subspecialty clinics, and inpatient units. A basic understanding of the current issues regarding prevalence and etiology, coupled with knowledge of the core features of ASD, will help pediatric nurses in all settings and at various practice levels better care for these children.

14. Jackson JN, Campbell JM. Teachers’ peer buddy selections for children with autism : social characteristics and relationship with peer nominations. J Autism Dev Disord ;2009 (Feb) ;39(2):269-277.

We examined social and behavioral characteristics of children selected by their teachers to serve as peer buddies for a child with autism. Thirty-one general education teachers and 576 children from five public elementary schools completed social status, behavioral, and peer buddy nomination measures. When compared to non-selected students, teacher selected buddies were : (a) more often boys, (b) popular, and (c) viewed as prosocial leaders by their peers. Agreement between teacher and peer nominations of social status and behavioral characteristics ranged from low to high ; agreement between teacher and peer selected buddies was moderate.

15. Jasmin E, Couture M, McKinley P, Reid G, Fombonne E, Gisel E. Sensori-motor and Daily Living Skills of Preschool Children with Autism Spectrum Disorders. J Autism Dev Disord ;2009 (Feb) ;39(2):231-241.

Sensori-motor development and performance of daily living skills (DLS) remain little explored in children with autism spectrum disorders (ASD). The objective of this study was to determine the impact of sensori-motor skills on the performance of DLS in preschool children with ASD. Thirty-five children, 3-4 years of age, were recruited and assessed with a battery of diagnostic and clinical tests. Children showed atypical sensory responses, very poor motor and DLS. Sensory avoiding, an excessive reaction to sensory stimuli, and fine motor skills were highly correlated with DLS, even when cognitive performance was taken into account. Sensori-motor deficits have an impact on the autonomy of children with ASD and interventions should aim at improving and supporting the development of sensori-motor skills.

16. Klin A. Embracing the challenge of bold theories of autism. Br J Psychol ;2009 (Feb) ;100(Pt 1):29-32.

This article is a commentary on ’Fetal testosterone and autistic traits’ (Auyeung et al., 2009).

17. Lazarev VV, Pontes A, Deazevedo LC. EEG photic driving : Right-hemisphere reactivity deficit in childhood autism. A pilot study. Int J Psychophysiol ;2009 (Feb) ;71(2):177-183.

In 14 autistic boys, aged 6-14 years, free of drug treatment, with relatively intact verbal functions and without severe or moderate mental retardation (I.Q. 91.4+/-22.8), intermittent photic stimulation at 11 fixed frequencies of 3-24 Hz revealed latent deficiency of the right hemisphere in the photic driving reactivity, predominantly at the fast alpha and beta frequencies of stimulation. The left-side prevalence was observed : 1) in the total number of driving peaks evaluated for the first four harmonics in the EEG spectra of 14 cortical areas and 2) in the driving amplitude in the spectra of the 2 occipital areas. As compared to 21 normally developing boys matched on age who did not show interhemispheric asymmetry in the driving reactivity, the autistic patients had significantly lower driving characteristics only in the right hemisphere. There were no significant differences between the autistic and control groups in the spontaneous EEG spectra of the occipital areas in the resting state.

18. Lecavalier L, Gadow KD, Devincent CJ, Edwards MC. Validation of DSM-IV Model of Psychiatric Syndromes in Children with Autism Spectrum Disorders. J Autism Dev Disord ;2009 (Feb) ;39(2):278-289.

The objective of this study was to assess the internal construct validity of the DSM-IV as a conceptual model for characterizing behavioral syndromes in children with ASD. Parent and teachers completed the Child Symptom Inventory-4, a DSM-IV-referenced rating scale, for 6-to-12 year old clinic referrals with an ASD (N = 498). Ratings were submitted to confirmatory factor analysis and models were assessed for fit. Results were also compared to those obtained for a sample of non-ASD psychiatric outpatient school-age children. Fit indices ranged from acceptable to good for the ASD samples and compared well to those obtained in typically developing children. Findings lend support to the notion that DSM-IV syndromes may be an appropriate conceptual model for characterizing psychopathology in ASD.

19. Liu X, Novosedlik N, Wang A, Hudson ML, Cohen IL, Chudley AE, Forster-Gibson CJ, Lewis SM, Holden JJ. The DLX1and DLX2 genes and susceptibility to autism spectrum disorders. Eur J Hum Genet ;2009 (Feb) ;17(2):228-235.

An imbalance between excitation and inhibition in the cerebral cortex has been suggested as a possible etiology of autism. The DLX genes encode homeodomain-containing transcription factors controlling the generation of GABAergic cortical interneurons. The DLX1 and DLX2 genes lie head-to-head in 2q32, a region associated with autism susceptibility. We investigated 6 Tag SNPs within the DLX1/2 genes in two cohorts of multiplex (MPX) and one of simplex (SPX) families for association with autism. Family-based association tests showed strong association with five of the SNPs. The common alleles of rs743605 and rs4519482 were significantly associated with autism (P<0.012) in the first sample of 138 MPX families, with the latter remaining significant after correction for multiple testing (P(cor)=0.0046). Findings in a second sample of 169 MPX families not only confirmed the association at rs4519482 (P=0.034) but also showed strong allelic association of the common alleles at rs788172, rs788173 and rs813720 (P(cor)=0.0003-0.04). In the combined MPX families, the common alleles were all significantly associated with autism (P(cor)=0.0005-0.016). The GGGTG haplotype was over transmitted in the two MPX cohorts and the combined samples [P(cor)<0.05 : P(cor)=0.00007 for the combined MPX families, Odds Ratio : 1.75 (95% CI : 1.33-2.30)]. Further testing in 306 SPX families replicated the association at rs4519482 (P=0.033) and the over transmission of the haplotype GGGTG (P=0.012) although P-values were not significant after correction for multiple testing. The findings support the presence of two functional polymorphisms, one in or near each of the DLX genes that increase susceptibility to, or cause, autism in MPX families where there is a greater genetic component for these conditions.

20. Love JR, Carr JE, Leblanc LA. Functional assessment of problem behavior in children with autism spectrum disorders : a summary of 32 outpatient cases. J Autism Dev Disord ;2009 (Feb) ;39(2):363-372.

The purpose of this study was to examine archival data from an outpatient clinic serving children with autism spectrum disorders to investigate the occurrence of problem behavior functions in this sample. Results indicated that social reinforcement (e.g., attention from others) was involved in maintaining problem behavior for the majority of cases, suggesting that these children lacked socially appropriate responses to access such reinforcement, or that their social environments contained insufficient social reinforcement. Further, the data suggest that problem behavior exhibited by children with autism spectrum disorders can be conceptualized similarly to the problem behavior of children with other developmental disabilities.

21. Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe K, Kano Y, Kato N. Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism. Int J Neuropsychopharmacol ;2009 (Feb) ;12(1):1-10.

Autism is a severe neurodevelopmental disorder of early childhood. Genetic factors play an important role in the aetiology of the disorder. In this study, we considered the NRCAM gene as a candidate gene of autism. This gene is expressed in the central nervous system and located in the 7q region, a susceptibility locus of autism. We conducted a case-control study of 18 single nucleotide polymorphisms (SNPs) within the NRCAM gene for possible association with autism in 170 autistic patients and 214 normal controls in a Japanese population. Seven SNPs in the NRCAM gene were significantly associated with autism, among which rs2300045 indicated the most prominent result (p=0.0009 uncorrected, p=0.017 corrected). In haplotype analyses, several individual haplotypes, including a common NRCAM haplotype C-T-T-C-T-T-G-C for rs3763463, rs1859767, rs1034825, rs2300045, rs2300043, rs2300039, rs722519, and rs2216259, showed a significant association after Bonferroni correction (p=0.0035 uncorrected, p=0.028 corrected). These haplotypes were located in the 5’ intron-2 region of the gene. In addition, we also assessed the above mentioned SNPs and haplotypes using the transmission disequilibrium test with 148 trios of autistic families. Haplotype G-T-T-T-T-C-G-C in the same eight SNPs was also associated with autism. In summary, our findings provide evidence for a significant association of NRCAM with autism. Considering the important role of the NRCAM gene in brain development, our results therefore indicated that the NRCAM gene is one of the strong candidate genes for autism.

22. Monteggia LM, Kavalali ET. Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission. Biol Psychiatry ;2009 (Feb 1) ;65(3):204-210.

Subtle alterations in synaptic function contribute to the pathophysiology associated with several neuropsychiatric diseases. Modifications in synaptic vesicle trafficking can cause frequency-dependent changes in neurotransmission, alter information coding in neural circuits, and affect long-term plasticity. Rett syndrome, a neurodevelopmental disorder that arises from mutations in the methyl-CpG-binding protein-2 (MeCP2) gene, is a salient example for such a disease state in which synaptic transmission-in particular, spontaneous neurotransmission and short-term synaptic plasticity, have been altered. MeCP2 is widely believed to be a transcriptional repressor that silences methylated genes. Recent studies have identified synaptic deficits associated with the loss of MeCP2 in several brain regions, including the hippocampus. These findings suggest a synaptic basis for neurological symptoms associated with Rett syndrome and suggest an important role for transcriptional repression in the regulation of neurotransmission. These studies also highlight the importance of histone deacetylation and DNA methylation, two key epigenetic mechanisms in controlling synaptic function. These mechanisms are essential for chromatin remodeling in neurons as well as for repression of gene activation by MeCP2 and related methyl-binding proteins. Future work focusing on the regulation of DNA methylation and histone deacetylation by synaptic activity and how these epigenetic alterations affect neurotransmission will be critical to elucidate the mechanisms underlying Rett syndrome. In addition, this work will also help delineate a key pathway that regulates properties of neurotransmission in the central nervous system that may underlie additional neuropsychiatric disorders.

23. Mostafa GA, Kitchener N. Serum anti-nuclear antibodies as a marker of autoimmunity in egyptian autistic children. Pediatr Neurol ;2009 (Feb) ;40(2):107-112.

Autism may involve an autoimmune pathogenesis in a subgroup of patients. The frequency of anti-nuclear antibodies in 80 autistic children and their relationship to a family history of autoimmunity were studied, compared with 80 healthy, matched children. Children with autism had a significantly higher percent seropositivity of anti-nuclear antibodies (20%) than healthy children (2.5% ; P < 0.01). Fifty percent of anti-nuclear antibody-seropositive autistic children had an anti-nuclear antibody titer of >/=1:640 (very high positive) ; 25%, >/=1:160 (high positive) ; and the remaining 25%, 1:80. All anti-nuclear antibody-seropositive healthy children had anti-nuclear antibody titers of 1:80. A family history of autoimmunity was significantly higher in autistic children (47.5%) than healthy controls (8.8% ; P < 0.001). Anti-nuclear antibody seropositivity was significantly higher in autistic children with a family history of autoimmunity than those without such history (36.8% and 5%, respectively ; P < 0.001). Anti-nuclear antibody seropositivity had significant positive associations with disease severity, mental retardation and electroencephalogram abnormalities. Autoimmunity may play a role in a subgroup of children with autism. Further studies are warranted to assess anti-nuclear antibody seropositivity, other markers of autoimmunity (e.g., brain-specific autoantibodies), and the role of immunotherapy in children with autism.

24. Mulligan A, Anney RJ, O’Regan M, Chen W, Butler L, Fitzgerald M, Buitelaar J, Steinhausen HC, Rothenberger A, Minderaa R, Nijmeijer J, Hoekstra PJ, Oades RD, Roeyers H, Buschgens C, Christiansen H, Franke B, Gabriels I, Hartman C, Kuntsi J, Marco R, Meidad S, Muller UC, Psychogiou L, Rommelse N, Thompson M, Uebel H, Banaschewski T, Ebstein R, Eisenberg J, Manor I, Miranda A, Mulas F, Sergeant J, Sonuga-Barke E, Asherson P, Faraone SV, Gill M. Autism Symptoms in Attention-Deficit/Hyperactivity Disorder : A Familial Trait which Correlates with Conduct, Oppositional Defiant, Language and Motor Disorders. J Autism Dev Disord ;2009 (Feb) ;39(2):210-211.

25. Mulligan A, Anney RJ, O’Regan M, Chen W, Butler L, Fitzgerald M, Buitelaar J, Steinhausen HC, Rothenberger A, Minderaa R, Nijmeijer J, Hoekstra PJ, Oades RD, Roeyers H, Buschgens C, Christiansen H, Franke B, Gabriels I, Hartman C, Kuntsi J, Marco R, Meidad S, Mueller U, Psychogiou L, Rommelse N, Thompson M, Uebel H, Banaschewski T, Ebstein R, Eisenberg J, Manor I, Miranda A, Mulas F, Sergeant J, Sonuga-Barke E, Asherson P, Faraone SV, Gill M. Autism symptoms in Attention-Deficit/Hyperactivity Disorder : A Familial trait which Correlates with Conduct, Oppositional Defiant, Language and Motor Disorders. J Autism Dev Disord ;2009 (Feb) ;39(2):197-209.

It is hypothesised that autism symptoms are present in Attention-Deficit/Hyperactivity Disorder (ADHD), are familial and index subtypes of ADHD. Autism symptoms were compared in 821 ADHD probands, 1050 siblings and 149 controls. Shared familiality of autism symptoms and ADHD was calculated using DeFries-Fulker analysis. Autism symptoms were higher in probands than siblings or controls, and higher in male siblings than male controls. Autism symptoms were familial, partly shared with familiality of ADHD in males. Latent class analysis using SCQ-score yielded five classes ; Class 1(31%) had few autism symptoms and low comorbidity ; Classes 2-4 were intermediate ; Class 5(7%) had high autism symptoms and comorbidity. Thus autism symptoms in ADHD represent a familial trait associated with increased neurodevelopmental and oppositional/conduct disorders.

26. Ozgen HM, Staal WG, Barber JC, de Jonge MV, Eleveld MJ, Beemer FA, Hochstenbach R, Poot M. A novel 6.14 mb duplication of chromosome 8p21 in a patient with autism and self mutilation. J Autism Dev Disord ;2009 (Feb) ;39(2):322-329.

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5-10% of the patients with autism. In this study, we present the clinical, cytogenetic and array-comparative genomic hybridization (array-CGH) evaluation of a 13-year-old male with severe developmental delay, facial dysmorphic features, autism and self mutilation. The patient was found to carry a de novo duplication of chromosome region 8p21 of minimally 6.14 and maximally 6.58 Mb as ascertained by bacterial artificial chromosome (BAC)-based array-CGH. Hitherto, only a few patients with autism with cytogenetically visible duplications involving the chromosome 8p21 region have been described, but the extent of these duplications has not been determined at the molecular level. This represents the smallest rearrangement of chromosomal region 8p21 as yet found in a patient with autism. For 11 of the 36 genes with known functions located within this duplication clear transcription in the brain was found. Of those the STMN4 and DPYSL2 genes are the most likely candidate genes to be involved in neuronal development, and, if altered in gene-dosage, in the autistic phenotype of our patient.

27. Peterson CC, Garnett M, Kelly A, Attwood T. Everyday social and conversation applications of theory-of-mind understanding by children with autism-spectrum disorders or typical development. Eur Child Adolesc Psychiatry ;2009 (Feb) ;18(2):105-115.

Children with autism-spectrum disorders (ASD) often fail laboratory false-belief tests of theory of mind (ToM). Yet how this impacts on their everyday social behavior is less clear, partly owing to uncertainty over which specific everyday conversational and social skills require ToM understanding. A new caregiver-report scale of these everyday applications of ToM was developed and validated in two studies. Study 1 obtained parent ratings of 339 children (85 with autism ; 230 with Asperger’s ; 24 typically-developing) on the new scale and results revealed (a) that the scale had good psychometric properties and (b) that children with ASD had significantly more everyday mindreading difficulties than typical developers. In Study 2, we directly tested links between laboratory ToM and everyday mindreading using teacher ratings on the new scale. The sample of 25 children included 15 with autism and 10 typical developers aged 5-12 years. Children in both groups who passed laboratory ToM tests had fewer everyday mindreading difficulties than those of the same diagnosis who failed. Yet, intriguingly, autistic ToM-passers still had more problems with everyday mindreading than younger typically-developing ToM-failers. The possible roles of family conversation and peer interaction, along with ToM, in everyday social functioning were considered.

28. Quirmbach LM, Lincoln AJ, Feinberg-Gizzo MJ, Ingersoll BR, Andrews SM. Social stories : mechanisms of effectiveness in increasing game play skills in children diagnosed with autism spectrum disorder using a pretest posttest repeated measures randomized control group design. J Autism Dev Disord ;2009 (Feb) ;39(2):299-321.

An increasing body of literature has indicated that social stories are an effective way to teach individuals diagnosed with autism appropriate social behavior. This study compared two formats of a social story targeting the improvement of social skills during game play using a pretest posttest repeated measures randomized control group design. A total of 45 children diagnosed with Autism Spectrum Disorder (ASD) ages 7-14 were randomly assigned to standard, directive, or control story conditions. Results demonstrated that the standard and directive story formats were equally as effective in eliciting, generalizing and maintaining the targeted social skills in participants who had prior game play experience and Verbal Comprehension Index (VCI) scores from the WISC-IV intelligence test in the borderline range or above.

29. Reed P, Broomfield L, McHugh L, McCausland A, Leader G. Extinction of Over-selected Stimuli Causes Emergence of Under-selected Cues in Higher-functioning Children with Autistic Spectrum Disorders. J Autism Dev Disord ;2009 (Feb) ;39(2):290-298.

Two experiments examined whether over-selectivity is the product of a post-acquisition performance deficit, rather than an attention problem. In both experiments, children with Autistic Spectrum Disorder were presented with a trial-and-error discrimination task using two, two-element stimuli and over-selected in both studies. After behavioral control by the previously over-selected stimulus was extinguished, behavioral control by the previously under-selected cue emerged without direct training. However, this effect was only found in higher-functioning children, and not with more severely impaired children. These findings suggest that over-selectivity is not simply due to a failure to attend to all of the stimuli presented. They also suggest that extinction of over-selected stimuli may be a fruitful line of intervention for clinical intervention for some individuals.

30. Skuse DH. Is autism really a coherent syndrome in boys, or girls ? Br J Psychol ;2009 (Feb) ;100(Pt 1):33-37.

This article is a commentary on ’Fetal testosterone and autistic traits’ (Auyeung et al., 2009).

31. Swanberg SE, Nagarajan RP, Peddada S, Yasui DH, LaSalle JM. Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism. Hum Mol Genet ;2009 (Feb 1) ;18(3):525-534.

Mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2), cause the neurodevelopmental disorder Rett syndrome (RTT). Although MECP2 mutations are rare in idiopathic autism, reduced MeCP2 levels are common in autism cortex. MeCP2 is critical for postnatal neuronal maturation and a modulator of activity-dependent genes such as Bdnf (brain-derived neurotropic factor) and JUNB. The activity-dependent early growth response gene 2 (EGR2), required for both early hindbrain development and mature neuronal function, has predicted binding sites in the promoters of several neurologically relevant genes including MECP2. Conversely, MeCP2 family members MBD1, MBD2 and MBD4 bind a methylated CpG island in an enhancer region located in EGR2 intron 1. This study was designed to test the hypothesis that MECP2 and EGR2 regulate each other’s expression during neuronal maturation in postnatal brain development. Chromatin immunoprecipitation analysis showed EGR2 binding to the MECP2 promoter and MeCP2 binding to the enhancer region in EGR2 intron 1. Reduction in EGR2 and MeCP2 levels in cultured human neuroblastoma cells by RNA interference reciprocally reduced expression of both EGR2 and MECP2 and their protein products. Consistent with a role of MeCP2 in enhancing EGR2, Mecp2-deficient mouse cortex samples showed significantly reduced EGR2 by quantitative immunofluorescence. Furthermore, MeCP2 and EGR2 show coordinately increased levels during postnatal development of both mouse and human cortex. In contrast to age-matched Controls, RTT and autism postmortem cortex samples showed significant reduction in EGR2. Together, these data support a role of dysregulation of an activity-dependent EGR2/MeCP2 pathway in RTT and autism.

32. Tuchman R, Moshe SL, Rapin I. Convulsing toward the pathophysiology of autism. Brain Dev ;2009 (Feb) ;31(2):95-103.

The autisms and epilepsies are heterogeneous disorders that have diverse etiologies and pathologies. The severity of impairment and of symptoms associated with autism or with particular epilepsy syndromes reflects focal or global, structurally abnormal or dysfunctional neuronal networks. The complex relationship between autism and epilepsy, as reflected in the autism-epilepsy phenotype, provides a bridge to further knowledge of shared neuronal networks that can account for both the autisms and the epilepsies. Although epilepsy is not a causal factor for autism, increased understanding of common genetic and molecular biological mechanisms of the autism-epilepsy phenotype has provided insight into the pathophysiology of the autisms. The autism-epilepsy phenotype provides a novel model to the study of interventions that may have a positive modulating effects on social cognitive outcome.

33. Volden J, Coolican J, Garon N, White J, Bryson S. Brief report : pragmatic language in autism spectrum disorder : relationships to measures of ability and disability. J Autism Dev Disord ;2009 (Feb) ;39(2):388-393.

Pragmatic language skill is regarded as an area of universal deficit in Autism Spectrum Disorder (ASD), but little is known about factors related to its development and how it in turn might contribute to skills needed to function in everyday contexts or to the expression of ASD-related symptoms. This study investigated these relationships in 37 high-functioning children with ASD. Multiple regression analyses revealed that structural language skills significantly predicted pragmatic language performance, but also that a significant portion of variance in pragmatic scores could not be accounted for by structural language or nonverbal cognition. Pragmatic language scores, in turn, accounted for significant variance in ADOS Communication and Socialization performance, but did not uniquely predict level of communicative or social adaptive functioning on the Vineland. These findings support the notion of pragmatic language impairment as integral to ASD but also highlight the need to measure pragmatic skills in everyday situations, to target adaptive skills in intervention and to intervene in functional, community-based contexts.

34. Wall DP, Esteban FJ, Deluca TF, Huyck M, Monaghan T, Velez de Mendizabal N, Goni J, Kohane IS. Comparative analysis of neurological disorders focuses genome-wide search for autism genes. Genomics ;2009 (Feb) ;93(2):120-129.

The behaviors of autism overlap with a diverse array of other neurological disorders, suggesting common molecular mechanisms. We conducted a large comparative analysis of the network of genes linked to autism with those of 432 other neurological diseases to circumscribe a multi-disorder subcomponent of autism. We leveraged the biological process and interaction properties of these multi-disorder autism genes to overcome the across-the-board multiple hypothesis corrections that a purely data-driven approach requires. Using prior knowledge of biological process, we identified 154 genes not previously linked to autism of which 42% were significantly differentially expressed in autistic individuals. Then, using prior knowledge from interaction networks of disorders related to autism, we uncovered 334 new genes that interact with published autism genes, of which 87% were significantly differentially regulated in autistic individuals. Our analysis provided a novel picture of autism from the perspective of related neurological disorders and suggested a model by which prior knowledge of interaction networks can inform and focus genome-scale studies of complex neurological disorders.

35. Walter E, Dassonville P, Bochsler TM. A Specific Autistic Trait that Modulates Visuospatial Illusion Susceptibility. J Autism Dev Disord ;2009 (Feb) ;39(2):339-349.

Although several accounts of autism have predicted that the disorder should be associated with a decreased susceptibility to visual illusions, previous experimental results have been mixed. This study examined whether a link between autism and illusion susceptibility can be more convincingly demonstrated by assessing the relationships between susceptibility and the extent to which several individual autistic traits are exhibited as a continuum in a population of college students. A significant relationship was observed between the systemizing trait and susceptibility to a subset of the tested illusions (the rod-and-frame, Roelofs, Ponzo and Poggendorff illusions). These results provide support for the idea that autism involves an imbalance between the processing of local and global cues, more heavily weighted toward local features than in the typically developed individual.

36. Williams D, Happe F. Pre-conceptual aspects of self-awareness in autism spectrum disorder : the case of action-monitoring. J Autism Dev Disord ;2009 (Feb) ;39(2):251-259.

Two experiments were conducted to explore the extent to which individuals with autism experience difficulties in monitoring their own actions, both online and in memory. Participants with autism performed similarly in terms of levels and, importantly, patterns of performance to IQ-matched comparison participants. Each group found it easier to monitor their own actions/agency than to monitor the agency of the experimenter in a computerized task requiring individuals to distinguish person-caused from computer-caused changes in phenomenology. Both groups also showed a typical ’self-reference effect’, recalling their own actions better than those of the experimenter. Both tasks appear to be reliable markers of underlying action monitoring ability, performance on the ’Self’ conditions of each task being significantly associated, independent of verbal ability.

37. Zalla T, Sav AM, Stopin A, Ahade S, Leboyer M. Faux pas detection and intentional action in asperger syndrome. A replication on a French sample. J Autism Dev Disord ;2009 (Feb) ;39(2):373-382.

In the present study, we investigated mindreading abilities in a group of adults with Asperger Syndrome (AS) by using the faux pas task, an advanced test of theory of mind (Baron-Cohen et al. (1999). Journal of Autism and Developmental Disorders, 29, 407-418). The faux pas is a particular case of a non-intentional action reflecting an involuntary socially inappropriate behavior. Here, individuals with AS over-detected faux pas stories, failed to provide correct justifications of the speaker’s behavior and were unaware of the mistaken belief and of the resulting emotional impact, whereas they appeared to be responsive to social rule violations. We hypothesized that because of an impaired theory-of-mind, individuals with AS may develop compensatory cognitive strategies based on overlearned abstract knowledge about normative rules.


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