1. {{Global perspectives on autism}}. {Autism Res};2012 (Jun);5(3):218-219.
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2. Aguiar D, Halldorsson BV, Morrow EM, Istrail S. {{DELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autism}}. {Bioinformatics};2012 (Jun 15);28(12):i154-i162.
MOTIVATION: The understanding of the genetic determinants of complex disease is undergoing a paradigm shift. Genetic heterogeneity of rare mutations with deleterious effects is more commonly being viewed as a major component of disease. Autism is an excellent example where research is active in identifying matches between the phenotypic and genomic heterogeneities. A considerable portion of autism appears to be correlated with copy number variation, which is not directly probed by single nucleotide polymorphism (SNP) array or sequencing technologies. Identifying the genetic heterogeneity of small deletions remains a major unresolved computational problem partly due to the inability of algorithms to detect them. RESULTS: In this article, we present an algorithmic framework, which we term DELISHUS, that implements three exact algorithms for inferring regions of hemizygosity containing genomic deletions of all sizes and frequencies in SNP genotype data. We implement an efficient backtracking algorithm-that processes a 1 billion entry genome-wide association study SNP matrix in a few minutes-to compute all inherited deletions in a dataset. We further extend our model to give an efficient algorithm for detecting de novo deletions. Finally, given a set of called deletions, we also give a polynomial time algorithm for computing the critical regions of recurrent deletions. DELISHUS achieves significantly lower false-positive rates and higher power than previously published algorithms partly because it considers all individuals in the sample simultaneously. DELISHUS may be applied to SNP array or sequencing data to identify the deletion spectrum for family-based association studies. AVAILABILITY: DELISHUS is available at http://www.brown.edu/Research/Istrail_Lab/. CONTACT: Eric_Morrow@brown.edu and Sorin_Istrail@brown.edu SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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3. Atladottir HO, Henriksen TB, Schendel DE, Parner ET. {{Using Maternally Reported Data to Investigate the Association between Early Childhood Infection and Autism Spectrum Disorder: the Importance of Data Source}}. {Paediatr Perinat Epidemiol};2012 (Jul);26(4):373-385.
BACKGROUND: Childhood infections have been found to be associated with autism spectrum disorder (ASD) in previous studies using hospital data or medical records to identify infections. We aimed to replicate these findings using maternal reports of childhood infection. METHODS: We used the Danish National Birth Cohort consisting of 92 583 live singletons born from 1997 to 2003 in Denmark. ASD diagnoses were retrieved from the Danish Psychiatric Central Register, and a total of 945 children from the cohort were diagnosed with ASD. Data were analysed using Cox proportional hazards regression. We studied the association between ASD and maternal reports of infectious disease in the child from birth to 19 months. Furthermore, we performed secondary analyses using hospital registers to investigate the association between ASD and hospital contact in general as well as hospital contact for various infections. RESULTS: We did not find a general association between maternal reports of infectious illness and ASD. However, hospital contact for all causes was associated with an increased risk for an ASD diagnosis. Danish children with ASD do not appear to have a general pattern of illness from infection in early life, but do have more contact with medical specialists for infections and other indications compared with the general population. CONCULSION: Hospital data should be used cautiously when studying the co-morbidity of ASD; if the increased rate of hospital contact overall for children with ASD is not considered, then misleading interpretations might be made of observed associations between specific diseases and ASD.
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4. Braunschweig D, Van de Water J. {{Maternal Autoantibodies in AutismMaternal Autoantibodies in Autism}}. {Arch Neurol};2012 (Jun 1);69(6):693-699.
As epidemiologic studies continue to note a striking increase in rates of autism spectrum disorder (ASD) diagnosis around the world, the lack of identified causative agents in most cases remains a major hindrance to the development of treatment and prevention strategies. Published observations of immune system abnormalities in ASD have increased recently, with several groups identifying fetal protein reactive IgG antibodies in plasma from mothers of children with autism. Furthermore, other gestational immune parameters, including maternal infection and dysregulated cytokine signaling, have been found to be associated with ASD in some cases. While detailed pathogenic mechanisms remain to be determined, the hypothesis that some cases of ASD may be influenced, or even caused, by maternal fetal brain-reactive antibodies or other in utero immune-related exposures is an active area of investigation. This article reviews the current literature in this area and proposes several directions for future research.
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5. Bryce CI, Jahromi LB. {{Brief Report: Compliance and Noncompliance to Parental Control Strategies in Children with High-Functioning Autism and Their Typical Peers}}. {J Autism Dev Disord};2012 (Jun 12)
The present study examined children’s compliance and noncompliance behaviors in response to parental control strategies in 20 children with high-functioning autism (HFA) and 20 matched typically-developing children. Observational coding was used to measure child compliance (committed, situational), noncompliance (passive, defiance, self-assertion, negotiation) and parent control strategies (commands, reprimands, positive incentives, reasoning, bargaining) in a clean-up task. Sequential analyses were conducted to identify parent behaviors that temporally predicted child compliance or noncompliance. Children with HFA were significantly more noncompliant and less compliant immediately following parents’ indirect commands than typically-developing children, even after controlling for receptive language. These results add to the existing literature on the efficacy of control strategies for children with autism, and have important implications for caregiver interventions.
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6. Esterberg ML, Ousley OY, Cubells JF, Walker EF. {{Prodromal and Autistic Symptoms in Schizotypal Personality Disorder and 22q11.2 Deletion Syndrome}}. {J Abnorm Psychol};2012 (Jun 11)
Despite clear diagnostic distinctions, schizophrenia and autism share symptoms on several dimensions. Recent research has suggested the two disorders overlap in etiology, particularly with respect to inherited and noninherited genetic factors. Studying the relationship between psychotic-like and autistic-like symptoms in risk groups such as 22q11 deletion syndrome (22q11DS) and schizotypal personality disorder (SPD) has the potential to shed light on such etiologic factors; thus, the current study examined prodromal symptoms and autistic features in samples of 22q11DS and SPD subjects using standardized diagnostic measures, including the Structured Interview for Prodromal Symptoms (SIPS) and the Autism Diagnostic Inventory-Revised (ADI-R). Results showed that SPD subjects manifested significantly more severe childhood and current social as well as stereotypic autistic features, as well as more severe positive prodromal symptoms. The two groups did not differ on negative, disorganized, or general prodromal symptoms, but were distinguishable based on correlations between prodromal and autistic features; the relationships between childhood autistic features and current prodromal symptoms were stronger for the SPD group. The results suggest that childhood autistic features are less continuous with subsequent prodromal signs in 22q11DS patients relative to those with SPD, and the findings highlight the importance of studying the overlap in diagnostic phenomenology in groups at risk for developing psychosis and/or autism. (PsycINFO Database Record (c) 2012 APA, all rights reserved).
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7. Gleichgerrcht E, Torralva T, Rattazzi A, Marenco V, Roca M, Manes F. {{Selective Impairment of Cognitive Empathy for Moral Judgment in Adults with High Functioning Autism}}. {Soc Cogn Affect Neurosci};2012 (Jun 11)
Faced with a moral dilemma, conflict arises between a cognitive controlled response aimed at maximizing welfare, i.e. the utilitarian judgment, and an emotional aversion to harm, i.e. the deontological judgment. In the present study we investigated moral judgment in adult individuals with high functioning autism /Asperger syndrome (HFA/AS), a clinical population characterized by impairments in prosocial emotions and social cognition. In Experiment 1, we compared the response patterns of HFA/AS participants and neurotypical controls to moral dilemmas with low and high emotional saliency. We found that HFA/AS participants more frequently delivered the utilitarian judgment. Their perception of appropriateness of moral transgression was similar to that of controls, but HFA/AS participants reported decreased levels of emotional reaction to the dilemma. In Experiment 2, we explored the way in which demographic, clinical, and social cognition variables including emotional and cognitive aspects of empathy and theory of mind influenced moral judgment. We found that utilitarian HFA/AS participants showed a decreased ability to infer other people’s thoughts and to understand their intentions, as measured both by performance on neuropsychological tests and through dispositional measures. We conclude that greater prevalence of utilitarianism in HFA/AS is associated with difficulties in specific aspects of social cognition.
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8. Gordijn B, Ten Have H. {{Ethics of autism}}. {Med Health Care Philos};2012 (Jun 12)
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9. Jaspers M, de Winter AF, Buitelaar JK, Verhulst FC, Reijneveld SA, Hartman CA. {{Early Childhood Assessments of Community Pediatric Professionals Predict Autism Spectrum and Attention Deficit Hyperactivity Problems}}. {J Abnorm Child Psychol};2012 (Jun 12)
For clinically referred children with Autism Spectrum Disorder (ASD) or Attention Deficit/Hyperactivity Disorder (ADHD) several early indicators have been described. However, knowledge is lacking on early markers of less severe variants of ASD and ADHD from the general population. The aim of the present study is to identify early indicators of high risk groups for ASD and ADHD problems based on routine data from community pediatric services between infancy and age four. Data are from 1,816 participants who take part in Tracking Adolescents’ Individual Lives Survey (TRAILS), a longitudinal study. Information on early developmental factors was extracted from charts of routine Preventive Child Healthcare (PCH) visits. To assess ASD and ADHD problems, respectively, we used the Children’s Social Behavior Questionnaire (CSBQ) and the Child Behavior Checklist (CBCL), filled out by parents three times between the ages of 11 and 17. Note that these are parent ratings and not diagnostic instruments performed by trained clinicians. Male gender, low birth weight, low level of education of the mother, social, behavioral, language, psychomotor and eating problems significantly predicted ASD problems (odds ratios (OR) between 1.34 and 2.41). ADHD problems were also predicted by male gender and low level of education of the mother and by maternal smoking during pregnancy, good gross motor skills in first year, early attention and hyperactivity problems, and absence of parent-reported positive behavior (ORs between 1.36 and 1.74). Routine data on early childhood from PCH services are predictive for ASD and ADHD problems in adolescents in the general population. The PCH services are a useful setting to identify high risk groups, and to monitor them subsequently.
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10. Li X, Zou H, Brown WT. {{Genes Associated with Autism Spectrum Disorder}}. {Brain Res Bull};2012 (Jun 8)
Autism spectrum disorder (ASD) is a heterogeneous grouping of neurodevelopmental disorders characterized by impairment in social interaction, verbal communication and repetitive/stereotypic behaviors. Much evidence suggests that ASD is multifactorial with a strong genetic basis, but the underlying mechanisms are far from clear. Recent advances in genetic technologies are beginning to shed light on possible etiologies of ASD. This review discusses current evidence for several widely studied candidate ASD genes, as well as various rare genes that supports their relationship to the etiology of ASD. The majority of the data are based on molecular, cytogenetic, linkage and association studies of autistic subjects, but newer methods, including whole-exome sequencing, are also beginning to make significant contributions to our understanding of autism.
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11. Lyall K, Pauls DL, Spiegelman D, Santangelo SL, Ascherio A. {{Fertility Therapies, Infertility and Autism Spectrum Disorders in the Nurses’ Health Study II}}. {Paediatr Perinat Epidemiol};2012 (Jul);26(4):361-372.
Background: An increasing number of women are utilizing fertility treatments, but little is known about their relation to autism spectrum disorders (ASD). Methods: To determine the association between maternal fertility therapy use and risk of having a child with ASD, we conducted a nested case-control study within the Nurses’ Health Study II (n = 116,430). Maternally reported diagnoses of ASD were confirmed through a supplementary questionnaire and, in a subgroup, the Autism Diagnostic Interview-Revised. Controls were randomly selected by frequency matching to case children’s year of birth. Associations were examined by self-reported infertility and type of therapy using conditional logistic regression. Results: In all, 9% of the 507 cases and 7% of 2,529 controls indicated fertility therapy use for the index pregnancy. No significant associations with self-reported fertility therapies or history of infertility were seen in primary analyses. In subgroup analyses of women with maternal age >/=35 years (n = 1,020), artificial insemination was significantly associated with ASD; ovulation inducing drug (OID) use was significantly associated in crude but not adjusted analyses (odds ratio 1.81, 95% CI 0.96-3.42). Results were similar by diagnostic subgroup, though within the advanced maternal age group, OID and artificial insemination were significantly associated with Asperger syndrome and pervasive developmental disorder not-otherwise specified, but not autistic disorder. Conculsion: Assisted reproductive therapy and history of infertility did not increase risk of having a child with ASD in this study. However, the associations observed with OID and artificial insemination among older mothers, for whom these exposures are more common, warrant further investigation.
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12. Pinkham AE, Sasson NJ, Beaton D, Abdi H, Kohler CG, Penn DL. {{Qualitatively Distinct Factors Contribute to Elevated Rates of Paranoia in Autism and Schizophrenia}}. {J Abnorm Psychol};2012 (Jun 11)
A converging body of clinical and empirical reports indicates that autism features elevated rates of paranoia comparable to those of individuals with paranoid schizophrenia. However, the distinct developmental courses and symptom manifestations of these two disorders suggest that the nature of paranoid ideation may differ between them in important and meaningful ways. To evaluate this hypothesis, we compared patterns of responses on the Paranoia Scale between actively paranoid individuals with schizophrenia (SCZP), individuals with schizophrenia who were not actively paranoid (SCZNP), adults with an Autism Spectrum Disorder (ASD), and healthy controls. Despite an overall similar level of heightened paranoia in the ASD and SCZP groups, discriminant correspondence analysis (DiCA) revealed that these groups were characterized by unique underlying factors. Paranoia in the SCZP group was defined by a factor based upon victimization, suspicion, and threat of harm. Whereas paranoia in the ASD group was partially characterized by this factor, it was distinguished from SCZP by an additional pattern of responses reflective of increased social cynicism. These findings indicate that paranoia in ASD is supported by qualitative factors distinct from schizophrenia and highlight mechanistic differences in the formation of paranoid ideation that may inform the development of disorder-specific treatments. (PsycINFO Database Record (c) 2012 APA, all rights reserved).
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13. Uno Y, Uchiyama T, Kurosawa M, Aleksic B, Ozaki N. {{The combined measles, mumps, and rubella vaccines and the total number of vaccines are not associated with development of autism spectrum disorder: The first case-control study in Asia}}. {Vaccine};2012 (Jun 13);30(28):4292-4298.
OBJECTIVE: The aim of this study was to investigate the relationship between autism spectrum disorder (ASD) and general vaccinations, including measles-mumps-rubella (MMR) vaccine, in Japanese subjects, a population with high genetic homogeneity. PATIENTS AND METHODS: A case-control study was performed. Cases (n=189) were diagnosed with ASD, while controls (n=224) were volunteers from general schools, matched by sex and birth year to cases. Vaccination history and prenatal, perinatal, and neonatal factors from the Maternal and Child Health handbook, which was part of each subject’s file, were examined. To determine the relationship between potential risk factors and ASD, crude odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated, and the differences in mean values of the quantitative variables between cases and controls were analyzed using an unpaired t-test. Moreover, MMR vaccination and the effect of the number of vaccine injections were investigated using a conditional multiple regression model. RESULTS: For MMR vaccination, the OR was 1.04 (95% CI, 0.65-1.68), and no significant differences were found for the other vaccines. For all of the prenatal, perinatal and neonatal factors, there were no significant differences between cases and controls. Furthermore, regarding the presence of ASD, MMR vaccination and the number of vaccine injections had ORs of 1.10 (95% CI, 0.64-1.90) and 1.10 (95% CI, 0.95-1.26), respectively, in the conditional multiple regression model; no significant differences were found. CONCLUSIONS: In this study, there were not any convincing evidences that MMR vaccination and increasing the number of vaccine injections were associated with an increased risk of ASD in a genetically homogeneous population. Therefore, these findings indicate that there is no basis for avoiding vaccination out of concern for ASD.
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14. Van der Aa N, Vandeweyer G, Reyniers E, Kenis S, Dom L, Mortier G, Rooms L, Kooy RF. {{Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2}}. {Autism Res};2012 (Jun 11)
In a developmentally delayed girl with an autism spectrum disorder, Single nucleotide polymorphism (SNP) array analysis showed a de novo 280 kb deletion on chromosome 16q23.2 involving two genes, GAN and CMIP. Inactivating mutations in GAN cause the autosomal recessive disorder giant axonal neuropathy, not present in our patient. CMIP was recently implicated in the etiology of specific language impairment by genome-wide association analysis. It modulates phonological short-term memory and hence plays an important role in language acquisition. Overlaps of specific language impairment and autism have been debated in the literature regarding the phenotypical language profile as well as etiology. Our patient illustrates that haploinsufficiency of CMIP may contribute to autism spectrum disorders. Our finding further supports the existence of a genetic overlap in the etiology of specific language impairment and autism. Autism Res 2012, **: **-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
