1. Baker JK, Seltzer MM, Greenberg JS. {{Behaviour problems, maternal internalising symptoms and family relations in families of adolescents and adults with fragile X syndrome}}. {J Intellect Disabil Res};2012 (Jun 8)
Background Studies have linked the behaviour problems of children with fragile X syndrome (FXS) to maternal well-being, but less is known about how behaviour problems relate to important family factors such as marital satisfaction and family cohesion. Methods Married mothers of 115 adolescents and adults with FXS completed questionnaires and interviews, and maternal CGG repeat length was obtained by medical/laboratory records or by blood analysis. Results Indirect effects were present between behaviour problems and family variables in that behaviour problems were positively related to maternal internalising symptoms which were, in turn, negatively associated with both family cohesion and marital satisfaction. Direct associations between behaviour problems and family relationship variables were not significant. Conclusions Findings suggest the importance of intervening with behaviour problems in individuals with FXS and identify maternal mental health as a potentially powerful conduit for the effects of child behaviour on relationships within these families. Implications for targeted interventions are discussed.
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2. Davis LK, Maltman N, Mosconi MW, Macmillan C, Schmitt L, Moore K, Francis SM, Jacob S, Sweeney JA, Cook EH. {{Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis}}. {Am J Med Genet A};2012 (Jun 7)
Ataxin 2 binding protein 1 (A2BP1 aka FOX1, RBFOX1) is an RNA binding protein responsible for regulation of pre-mRNA splicing events in a number of critical developmental genes expressed in muscle, heart and neuronal cells [Shibata et al. (2000); Mamm Genome 12:595-601; Jin et al. (2003); EMBO J 22:905-912; Underwood et al. (2005); Mol Cell Biol 25:10005-10016]. Rare copy number abnormalities of A2BP1 have been previously associated with cognitive impairment, attention deficit disorder and autism [Martin et al. (2007); Am J Med Gen Part B 144B:869-876; Elia et al. (2010); Mol Psychiatry 15:637-646.]. Using a 1M Illumina SNP microarray, we identified a 1.3 kb deletion in A2BP1, which was subsequently validated by quantitative PCR. Here we present an in depth case study of an individual with autism and mild developmental hemiparesis in whom the deletion was detected. This study provides further support for the possible role of rare copy number variants in A2BP1 in the development of autism and associated motor asymmetries. (c) 2012 Wiley Periodicals, Inc.
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3. Davis NO, Kollins SH. {{Treatment for Co-Occurring Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder}}. {Neurotherapeutics};2012 (Jun 8)
Interest in the co-occurrence of attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) has grown in the last decade. Research on clinical populations supports the frequent co-occurrence of ADHD traits (e.g., hyperactivity) in individuals with ASD and ASD traits (e.g., social communication deficits) in individuals with ADHD. Similar trends in co-occurring traits have been observed in population-based samples, as well as family and genetic studies of affected individuals. Despite increased interest in co-occurring ADHD and ASD, relatively little research has been devoted to treatment considerations. The vast majority of intervention research has examined pharmacological treatment using traditional ADHD medications. Relatively few psychosocial interventions have directly addressed co-occurring symptoms. Treatment development will benefit from enhanced understanding of the phenomenon of co-occurring ADHD and ASD. Key topics for future research include examining developmental trajectories of co-occurring disorders, comorbid psychiatric conditions, deficits in social skills, and the nature of executive functioning impairment in individuals with co-occurring ADHD and ASD. In the current review, research in these areas is reviewed along with recommendation for future study. Given that clinicians are routinely observing and treating individuals with co-occurring symptoms, further research will yield needed information to inform intervention development and maximize benefits for affected individuals.
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4. Gibbs V, Aldridge F, Chandler F, Witzlsperger E, Smith K. {{Brief Report: An Exploratory Study Comparing Diagnostic Outcomes for Autism Spectrum Disorders Under DSM-IV-TR with the Proposed DSM-5 Revision}}. {J Autism Dev Disord};2012 (Jun 8)
The proposed revision for Autism spectrum disorders (ASDs) in the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) represents a shift from the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition, Text Revision (DSM-IV-TR). As the proposed DSM-5 criteria require a higher minimum number of symptoms to be present compared to DSM-IV-TR, there have been some concerns about the impact that this will have on diagnostic outcomes. Therefore, the current study aimed to compare diagnostic outcomes using both DSM-IV-TR and DSM-5 criteria for 132 children. Of the 111 participants who received an ASD diagnosis under DSM-IV-TR, 26 did not meet DSM-5 criteria. The majority of these had received a DSM-IV-TR PDD-NOS diagnosis. Implications of the results and the proposed DSM-5 changes to the ASD criteria are discussed.
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5. Grossi D, Marcone R, Cinquegrana T, Gallucci M. {{On the differential nature of induced and incidental echolalia in autism}}. {J Intellect Disabil Res};2012 (Jun 8)
Background Echolalia is a verbal disorder, defined as ‘a meaningless repetition of the words of others’. It is pathological, automatic and non-intentional behaviour, often observed in a variety of neurological and psychiatric disorders and above all in autism. We assume that echolalia is an imitative behaviour that is due to difficulties in inhibiting automatic repetition as seen in patients with frontal lobe damage. Our aim is to study the occurrence of echolalia under experimental conditions to investigate the nature of the phenomenon and its relationship with the severity of autism. Methods Eighteen participants with autism from 17 to 36 years old were recruited; they were administrated the Vineland scale, the Observational Rating Scale of Basic Functions and the Echolalia Questionnaire. In the Echolalia Questionnaire, questions were directly addressed to the autistic subject (induced procedure) or to the subject’s caregiver while the subject was free to do what he wanted (incidental procedure). The data were analysed by multivariate regressions and Pearson’s correlations. Results The results showed that echolalia occurred in both experimental situations; the mean value was significantly higher in the induced procedure, but results did not support the correlation with Vineland’s score in the incidental procedure. It is likely that the two situations activated different processes. In particular, echolalia was statistically higher in the induced procedure as compared with the incidental one only for subjects with low score on Vineland, but in the incidental procedure, the presence of echolalia appeared to be uninfluenced by the functional capacity of subjects. Conclusions The two experimental conditions require different monitoring systems to control this verbal behaviour. The echolalic phenomenon is an expression of dependence on the environment and may occur in a situation in which the autistic person is participating in a communicative act and, lacking inhibitory control, repeats the other’s communication rather than selecting an answer. The deficit in inhibitory control in this situation does not seem to be present in subjects with higher efficiency. Incidental echolalia reflects the inability of the subject to filter out background environmental noise, which occasionally results in environmental dependency.
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6. Guo X, Liao J, Lan F. {{[Progress in molecular diagnosis of fragile X syndrome]}}. {Zhonghua Yi Xue Yi Chuan Xue Za Zhi};2012 (Jun);29(3):296-299.
Fragile X mental retardation 1 is the gene underlying fragile X syndrome (FXS). Its product, fragile X mental retardation protein, is closely involved with development of brain and neurons. PCR and Southern blotting have been the major methods for laboratory diagnosis of FXS. In this article, the progress in the molecular diagnosis of FXS is reviewed.
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7. Happe FG. {{Some childhood autistic traits are associated with psychotic experiences in early adolescence}}. {Evid Based Ment Health};2012 (Jun 7)
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8. He W, Liu W, Zhong X, Chen X, Li S, Zhang H, Li Q, Cui Q, Sun X. {{[Analysis of de novo copy number variations in a family affected with autism spectrum disorders using high-resolution array-based comparative genomic hybridization]}}. {Zhonghua Yi Xue Yi Chuan Xue Za Zhi};2012 (Jun);29(3):266-269.
OBJECTIVE: To analyze de novo copy number variations (CNVs) in a Chinese family affected with autism spectrum disorders (ASD). METHODS: Affymetrix Cytogenetics Whole Genome 2.7M Array assay was performed to identify potential CNVs in four members from the family. RESULTS: A total of 89 de novo CNV regions were identified in the autistic siblings. The CNV regions in total have exceeded 1/1000 of the lengths of chromosomes 5, 11 and 14. In addition, de novo CNV regions were also identified at 3p26.1, 4q22.2, and 5p15.2, which encompassed 10 genes associated with nerve development including GRM7, GRID2 and CTNND2. CONCLUSION: A number of nerve development associated genes were at the de novo CNV sites, which may provide new clues for genetic research of ASD. High-resolution array-comparative genomic hybridization is an effective method for detecting submicroscopic chromosomal imbalances.
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9. Lampi KM, Lehtonen L, Tran PL, Suominen A, Lehti V, Banerjee PN, Gissler M, Brown AS, Sourander A. {{Risk of Autism Spectrum Disorders in Low Birth Weight and Small for Gestational Age Infants}}. {J Pediatr};2012 (Jun 5)
OBJECTIVE: To examine the relationship between birth weight, gestational age, small for gestational age (SGA), and 3 or the most common autism spectrum disorder (ASD) subtypes. STUDY DESIGN: In this population-based case-control study conducted in Finland, 4713 cases born between 1987 and 2005 with International Classification of Diseases-diagnoses of childhood autism, Asperger syndrome, or pervasive developmental disorder (PDD), were ascertained from the Finnish Hospital Discharge Register. Four controls, individually matched on sex, date of birth, and place of birth, were selected from the Finnish Medical Birth Register for each case. Conditional logistic regression models were used to assess whether birth weight and gestational age information predicted ASD after controlling for maternal age, parity, smoking during pregnancy, and psychiatric history, as well as for infant’s major congenital anomalies. RESULTS: Very low (<1500 g) and moderately low (<2500 g) birth weight, very low gestational age (less than 32 weeks), and SGA increased risk of childhood autism (adjusted OR 3.05, 95% CI 1.4-6.5; 1.57, 1.1-2.3; 2.51, 1.3-5.0; and 1.72, 1.1-2.6, respectively). Very low and moderately low birth weight, very low gestational age, and SGA were also associated with increase in PDD risk (OR 3.44, 95% CI 1.9-6.3; 1.81, 1.4-2.4; 2.46, 1.4-2.3; and 2.24, 1.7-3.0, respectively). No associations were found between the perinatal characteristics and Asperger syndrome. The increased risks persisted after controlling for selected potential confounders. CONCLUSIONS: The finding that low birth weight, prematurity, and SGA were related to childhood autism and PDD but not to Asperger syndrome suggests that prenatal factors related to these exposures may differ for these ASD subtypes, which may have preventive implications.
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10. Ramos PS, Sajuthi S, Langefeld CD, Walker SJ. {{Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder}}. {Mol Autism};2012 (Jun 9);3(1):4.
ABSTRACT: BACKGROUND: A growing number of clinical and basic research studies have implicated immunological abnormalities as being associated with and potentially responsible for the cognitive and behavioral deficits seen in autism spectrum disorder (ASD) children. Here we test the hypothesis that immune-related gene loci are associated with ASD. FINDINGS: We identified 2,012 genes of known immune-function via Ingenuity Pathway Analysis. Family-based tests of association were computed on the 22,904 single nucleotide polymorphisms (SNPs) from the 2,012 immune-related genes on 1,510 trios available at the Autism Genetic Resource Exchange (AGRE) repository. Several SNPs in immune-related genes remained statistically significantly associated with ASD after adjusting for multiple comparisons. Specifically, we observed significant associations in the CD99 molecule-like 2 region (CD99L2, rs11796490, P = 4.01 x 10-06, OR = 0.68 (0.58-0.80)), in the jumonji AT rich interactive domain 2 (JARID2) gene (rs13193457, P = 2.71 x 10-06, OR = 0.61 (0.49-0.75)), and in the thyroid peroxidase gene (TPO) (rs1514687, P = 5.72 x 10-06, OR = 1.46 (1.24- 1.72)). CONCLUSIONS: This study suggests that despite the lack of a general enrichment of SNPs in immune function genes in ASD children, several novel genes with known immune functions are associated with ASD.
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11. Rutz HL, Rothblat LA. {{Intact and impaired executive abilities in the BTBR mouse model of autism}}. {Behav Brain Res};2012 (Jun 4)
BTBR T+tf/J (BTBR) inbred mice are frequently used as a model of autism spectrum disorders (ASD) as they display social deficits and repetitive behaviors that resemble the symptoms of the human syndrome. Since deficits on tasks that measure cognitive (executive) control are also reliable phenotypes in ASD, we wanted to determine whether executive abilities were compromised in the mouse model. BTBR mice were trained on two visual discrimination paradigms requiring differing degrees of cognitive control. BTBR mice performed normally on a visual discrimination reversal where rule switching was relatively automatic, but were severely impaired on a task-switch paradigm that required the active use of contextual information to switch between rules in a flexible manner. The present findings further characterize the behavior of BTBR mice as a model of ASD. Moreover, the demonstration of both intact and impaired executive functions in BTBR mice illustrates the importance of developing new cognitive assays for comprehensive behavioral assessment of mouse models of human brain disorders.
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12. Sterling A, Abbeduto L. {{Language development in school-age girls with fragile X syndrome}}. {J Intellect Disabil Res};2012 (Jun 8)
Background Girls with fragile X syndrome (FXS) have a wide range of cognitive and language abilities. The range of language outcomes experienced by girls with FXS, however, has been relatively unexplored. The purpose of this exploratory study was to examine receptive and expressive language, with a focus on vocabulary and syntax, in a group of school-age girls with FXS. Method Twenty-one girls with FXS aged 7-15 years participated in the study. The girls completed a receptive vocabulary test, non-verbal IQ test and an expressive language sample. Results The mean IQ for this group of girls was at the cut-off for intellectual disability. Vocabulary was an area of strength relative to non-verbal cognition. Age and non-verbal IQ were significant predictors of vocabulary performance. Conclusions The data suggest that a substantial portion of the sample would qualify for speech and language services. This study highlights the need for continued research in the area of language and cognitive development in girls with the full mutation of fragile X.
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13. Valicenti-McDermott M, Hottinger K, Seijo R, Shulman L. {{Age at Diagnosis of Autism Spectrum Disorders}}. {J Pediatr};2012 (Jun 9)
Early identification of autism has become a national priority but, despite efforts, there are children who are being identified at a later age. In this study, children of Hispanic and African American origin, foreign-born children, and children born to foreign mothers were more likely to be diagnosed later.
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14. Wagner JB, Hirsch SB, Vogel-Farley VK, Redcay E, Nelson CA. {{Eye-Tracking, Autonomic, and Electrophysiological Correlates of Emotional Face Processing in Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2012 (Jun 9)
Individuals with autism spectrum disorder (ASD) often have difficulty with social-emotional cues. This study examined the neural, behavioral, and autonomic correlates of emotional face processing in adolescents with ASD and typical development (TD) using eye-tracking and event-related potentials (ERPs) across two different paradigms. Scanning of faces was similar across groups in the first task, but the second task found that face-sensitive ERPs varied with emotional expressions only in TD. Further, ASD showed enhanced neural responding to non-social stimuli. In TD only, attention to eyes during eye-tracking related to faster face-sensitive ERPs in a separate task; in ASD, a significant positive association was found between autonomic activity and attention to mouths. Overall, ASD showed an atypical pattern of emotional face processing, with reduced neural differentiation between emotions and a reduced relationship between gaze behavior and neural processing of faces.
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15. Westphal A, Schelinski S, Volkmar F, Pelphrey K. {{Revisiting Regression in Autism: Heller’s Dementia Infantilis : Includes A Translation of Uber Dementia Infantilis}}. {J Autism Dev Disord};2012 (Jun 8)
Theodor Heller first described a severe regression of adaptive function in normally developing children, something he termed dementia infantilis, over one 100 years ago. Dementia infantilis is most closely related to the modern diagnosis, childhood disintegrative disorder. We translate Heller’s paper, Uber Dementia Infantilis, and discuss similarities in presentation between Heller’s cases, and a group of children with childhood disintegrative disorder. In particular we discuss a prodromal period of affective dysregulation described by Heller, and also evident in our sample, but not previously described in any detail since the publication of Uber Dementia Infantilis.
