1. Ali A, Waly MI, Al-Farsi YY, Essa MM, Al-Sharbati MM, Deth RC. {{Hyperhomocysteinemia among Omani autistic children: a case-control study}}. {Acta Biochim Pol}. 2011 Dec 20.
High serum homocysteine (Hcy) level is regarded as an indicator for impairment of folate-dependent methionine cycle and is associated with oxidative stress. In a case control study, we evaluated eighty 3-5 years old Omani children (40 diagnosed with Autism Spectrum Disorder and 40 their age and gender matched controls) for their fasting serum homocysteine levels as a biomarker of Autism Spectrum Disorder (ASD). Serum folate and vitamin B(12) status were also evaluated. The serum homocysteine was measured using an enzyme immunoassay (EIA) technique whereas folate and vitamin B(12) were measured using an automated random access immune-assay system. The results indicated that mean serum Hcy levels were significantly (P < 0.05) higher in autistic children (20.1 +/- 3.3 micromol/L) as compared to controls (9.64 +/- 2.1 micromol/L). Significantly (P < 0.05) lower serum folate (1.8 +/- 0.4 microg/L) and vitamin B(12) (191.1 +/- 0.9 pg/mL) levels were observed in autistic children as compared to controls (6.1 +/- 0.6 microg/L and 288.9 +/- 1.3 pg/mL, respectively). The levels of homocysteine in autistic children were also much higher as compared to normal reference values (5-15 micromol/L). The results suggest that high fasting serum homocysteine and low folate and vitamin B(12) levels could be used as clinical biomarkers for an early diagnosis and management of ASD. Lien vers Pubmed
2. Anckarsater H, Hofvander B, Billstedt E, Gillberg IC, Gillberg C, Wentz E, et al. {{The sociocommunicative deficit subgroup in anorexia nervosa: autism spectrum disorders and neurocognition in a community-based, longitudinal study}}. {Psychol Med}. 2011 Dec 20:1-11.
BACKGROUND: A subgroup of persons with anorexia nervosa (AN) have been proposed to have sociocommunicative problems corresponding to autism spectrum disorders [ASDs, i.e. DSM-IV pervasive developmental disorders (PDDs): autistic disorder, Asperger’s disorder, PDD not otherwise specified (NOS)]. Here, clinical problems, personality traits, cognitive test results and outcome are compared across 16 subjects (32%) with teenage-onset AN who meet or have met ASD criteria (AN+ASD), 34 ASD-negative AN subjects and matched controls from a longitudinal Swedish study including four waves of independent assessments from the teens to the early thirties.MethodThe fourth wave included the Structured Clinical Interview for DSM-IV (SCID)-I and the SCID-II (cluster C, i.e. ‘anxious’ PDs) interviews, the Asperger Syndrome Diagnostic Interview, self-assessments by the Autism Spectrum Quotient and the Temperament and Character Inventory, neurocognitive tests by subscales from the Wechsler scales, continuous performance tests, Tower of London, and Happe’s cartoons. RESULTS: The ASD assessments had substantial inter-rater reliability over time (Cohen’s kappa between 0.70 and 0.80 with previous assessments), even if only six subjects had been assigned a diagnosis of an ASD in all four waves of the study, including retrospective assessments of pre-AN neurodevelopmental problems. The AN+ASD group had the highest prevalence of personality disorders and the lowest Morgan-Russell scores. The non-ASD AN group also differed significantly from controls on personality traits related to poor interpersonal functioning and on neurocognitive tests. CONCLUSIONS: A subgroup of subjects with AN meet criteria for ASDs. They may represent the extreme of neurocognitive and personality problems to be found more generally in AN.
Lien vers le texte intégral (Open Access ou abonnement)
3. Braun S, Kottwitz D, Nuber UA. {{Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome}}. {Hum Mol Genet}. 2011 Dec 20.
Rett syndrome (RTT) is caused by loss-of-function mutations in the X-linked gene MECP2 coding for methyl CpG-binding protein 2 (MeCP2). This protein can act as transcriptional repressor and we showed in a previous study that glucocorticoid-inducible genes are up-regulated in a RTT mouse model and that these genes are direct MeCP2 targets. Here, we report that pharmacological intervention with the glucocorticoid system has an impact on the symptoms and lifespan in a RTT mouse model. Our data support a functional implication of the stress hormone system in RTT and suggest this hormone system as potential therapeutic target.
Lien vers le texte intégral (Open Access ou abonnement)
4. Cheely CA, Carpenter LA, Letourneau EJ, Nicholas JS, Charles J, King LB. {{The Prevalence of Youth with Autism Spectrum Disorders in the Criminal Justice System}}. {J Autism Dev Disord}. 2011 Dec 21.
Past surveys have reported high rates of youth with disabilities in the juvenile justice system, however, little research has examined the frequency with which youth with Autism spectrum disorders (ASD) are in contact with law enforcement. Using records linkage with the Department of Juvenile Justice and the South Carolina Law Enforcement Division and the South Carolina Autism and Developmental Disabilities Monitoring Program (SC ADDM), this study compares the frequency, type, and outcome of criminal charges for youth with ASD and non-ASD youth. Youth with ASD had higher rates of crimes against persons and lower rates of crimes against property. Youth with ASD were more likely to be diverted into pre-trial interventions and less likely to be prosecuted than comparison youth. When compared to the overall SC ADDM sample, charged youth were less likely to have comorbid intellectual disability.
Lien vers le texte intégral (Open Access ou abonnement)
5. Dichter GS, Richey JA, Rittenberg AM, Sabatino A, Bodfish JW. {{Reward Circuitry Function in Autism During Face Anticipation and Outcomes}}. {J Autism Dev Disord}. 2011 Mar 29.
The aim of this study was to investigate reward circuitry responses in autism during reward anticipation and outcomes for monetary and social rewards. During monetary anticipation, participants with autism spectrum disorders (ASDs) showed hypoactivation in right nucleus accumbens and hyperactivation in right hippocampus, whereas during monetary outcomes, participants with ASDs showed hyperactivation in left midfrontal and anterior cingulate gyrus. Groups did not differ in nucleus accumbens responses to faces. The ASD group demonstrated hyperactivation in bilateral amygdala during face anticipation that predicted social symptom severity and in bilateral insular cortex during face outcomes. These results add to the growing body of evidence that autism is characterized by altered functioning of reward circuitry. Additionally, atypical amygdala activation during the processing of social rewards may contribute to the development or expression of autistic features.
Lien vers le texte intégral (Open Access ou abonnement)
6. Finegold SM, Julie Downes AB, Summanen PH. {{Microbiology of regressive autism}}. {Anaerobe}. 2011 Dec 22.
This manuscript summarizes some of our earlier work on the microbiology of autism subjects’ stool specimens, as compared with stools from control subjects. Our most recent data indicating that Desulfovibrio may play an important role in regressive autism is also presented. In addition, we present information on antimicrobial susceptibility patterns of Desulfovibrio using the CLSI agar dilution susceptibility technique. In addition, we summarize data from our earlier studies showing the impact of various antimicrobial agents on the indigenous bowel flora. This shows that penicillins and cephalosporins, as well as clindamycin, have a major impact on the normal bowel flora and therefore might well predispose subjects to overgrowth of such organisms as Clostridium difficile, and of particular importance for autism, to Desulfovibrio.
Lien vers le texte intégral (Open Access ou abonnement)
7. Fleischer AS. {{Support to students with Asperger syndrome in higher education – the perspectives of three relatives and three coordinators}}. {Int J Rehabil Res}. 2011 Dec 19.
An increasing number of students with disabilities attend institutes of higher education (HE). Among this group are persons with Asperger syndrome (AS). Persons with AS have a cognitive impairment that can interfere with their studies and the ability to describe their needs and ask for support. This study deals with an assessment of the support services for students with AS from the perspectives of the students’ relatives and the students’ service providers at the universities they attend. The aim of this study was to investigate (a) earlier experiences and events in relation to the transition of students with AS to higher education, according to the relatives’ perceptions of how these experiences and events affect university studies; and (b) the perceptions of both the relatives of students with AS and the coordinators for students with disabilities with respect to the study environment and support for students with AS. The approach is a case study methodology involving relatives and university coordinators for three students with AS. The coordinators’ way of working with students with disabilities is primarily based on the coordinators’ own ideas. No specific organizational routines exist for students with AS. The results reveal that the needs of students with AS have to be made explicit and must be incorporated into the support system. Relatives lack information about the situation and opportunities to engage in collaboration. Universities must adapt the support system to the cognitive impairments experienced by AS students and the difficulties of their everyday lives. The relatives of students with AS may play the central role in supporting the students and in understanding their impairment.Immer mehr behinderte Studenten schlagen einen zweiten Bildungsweg ein. Zu dieser Gruppe zahlen auch Studenten mit Asperger-Syndrom (AS). Personen mit AS sind oftmals kognitiv eingeschrankt, was Auswirkungen auf ihr Studium haben kann, aber auch auf ihre Fahigkeit, ihre Bedurfnisse zu formulieren und um Hilfe zu bitten. Die vorliegende Studie begutachtet die Hilfseinrichtungen fur Studenten mit AS aus der Perspektive der Angehorigen und der Leistungstrager der Studenten an den jeweiligen Universitaten. Ziel der vorliegenden Studie ist (a) die Untersuchung fruherer Erfahrungen und Ereignisse mit Bezug auf den Ubergang von Studenten mit AS zum zweiten Bildungsweg aus der Sicht der Angehorigen und der Auswirkung dieser Erfahrungen und Ereignisse auf das Studium und (b) die Untersuchung der Sichtweise der Angehorigen der Studenten mit AS sowie der Koordinatoren der behinderten Studenten hinsichtlich des Studienumfelds und der Betreuung von Studenten mit AS. Die Studie erfolgte als Fallstudien-Methodik mit Angehorigen und Universitatskoordinatoren fur drei Studenten mit AS. Welche Gestalt die Zusammenarbeit der Koordinatoren mit behinderten Studenten annimmt, beruht primar auf den eigenen Ideen der Koordinatoren. Fur AS-Studenten existiert kein spezieller organisatorischer Ablauf. Die Ergebnisse gaben zu erkennen, dass die Bedurfnisse von AS-Studenten explizit formuliert und in das Betreuungsschema integriert werden mussen. Angehorigen mangelt es an ausfuhrlichen Informationen uber die Situation und an Gelegenheiten zur Eigenbeteiligung. Universitaten mussen ihre Betreuung den Einschrankungen der kognitiven Fahigkeiten der AS-Studenten sowie deren Schwierigkeiten im taglichen Leben anpassen. Den Angehorigen der Studenten mit AS kommt moglicherweise eine zentrale Rolle bei deren Unterstutzung und beim Verstandnis ihrer Behinderung zu.Cada vez es mayor el numero de estudiantes con discapacidades que pueden acceder a estudios de ensenanza superior, entre los cuales se encuentran las personas que padecen el sindrome de Asperger (SA). Las personas con SA presentan una discapacidad cognitiva que puede interferir en sus estudios y en la habilidad para expresar sus necesidades y pedir ayuda. Este estudio consiste en la evaluacion de los servicios de asistencia de los estudiantes con SA desde el punto de vista de sus familiares y del personal de apoyo de las universidades donde estos estudian. El objetivo del estudio fue investigar (a) las experiencias y acontecimientos previos relacionados con la transicion a la ensenanza superior de los estudiantes con SA, de acuerdo con la opinion de sus familiares sobre como dichas experiencias y acontecimientos influyen en los estudios universitarios; y (b) el punto de vista de los familiares de los estudiantes con SA y de los coordinadores de los estudiantes con discapacidades con respecto al entorno de estudio y los servicios de apoyo de los estudiantes con SA. La metodologia utilizada consistio en un estudio de caso donde participaron los familiares y los coordinadores de la universidad de tres estudiantes con SA. El modo en que los coordinadores trabajan con los estudiantes con discapacidades se basa principalmente en sus propios metodos, ya que no existen unos metodos de organizacion especificos para los estudiantes con SA. Los resultados mostraron que las necesidades de los estudiantes con SA deben ser mas explicitas y deben incorporarse en el sistema de los servicios de asistencia. Los familiares no poseen informacion sobre la situacion y las formas en que pueden colaborar. Las universidades deben adaptar el sistema de los servicios de asistencia a las discapacidades cognitivas que sufren los estudiantes con SA y a las dificultades que experimentan en su vida diaria. El papel que desempenan los familiares de los estudiantes con SA debe ser el de apoyo y comprension de la discapacidad que estos padecen.Un nombre croissant d’eleves handicapes frequentent des instituts d’enseignement superieur (ES). On denombre parmi ce groupe des personnes souffrant du syndrome d’Asperger (SA). Ces patients presentent une deficience cognitive qui peut interferer avec leurs etudes et leur capacite a decrire leurs besoins et a demander un soutien. La presente etude porte sur une evaluation des services de soutien a l’attention des etudiants souffrant du SA du point de vue des parents/proches des etudiants et des prestataires de services dans les universites qu’ils frequentent. L’etude avait pour objet d’examiner les experiences et les evenements anterieurs en relation avec la transition de ces eleves vers l’enseignement superieur, selon les perceptions des parents de la maniere dont ces experiences et ces evenements affectent les etudes universitaires, et (b) les perceptions des proches de ces eleves et de leurs coordonnateurs vis-a-vis de l’environnement d’etude et du soutien qui leur est propose. L’approche est une methodologie d’etude de cas impliquant les proches et les coordonnateurs universitaires de trois eleves souffrant du SA. La methode de travail des coordonnateurs avec les etudiants handicapes repose essentiellement sur leurs propres idees du soutien. Aucune routine organisationnelle specifique n’existe pour les etudiants souffrant du SA. Les resultats revelent que les besoins ces eleves doivent etre rendus explicites et etre incorpores dans le systeme de soutien. Les parents/proches manquent d’informations sur la situation et les possibilites d’engager un processus de collaboration. Les universites doivent adapter le systeme de soutien a la deficience cognitive vecue par les etudiants souffrant du SA et les difficultes de leur vie quotidienne. Les proches de ces etudiants peuvent jouer un role central dans le soutien qui leur est apporte et dans la comprehension de leur deficience.
Lien vers le texte intégral (Open Access ou abonnement)
8. Gillespie-Lynch K, Sepeta L, Wang Y, Marshall S, Gomez L, Sigman M, et al. {{Early Childhood Predictors of the Social Competence of Adults with Autism}}. {J Autism Dev Disord}. 2011 Mar 29.
Longitudinal research into adult outcomes in autism remains limited. Unlike previous longitudinal examinations of adult outcome in autism, the twenty participants in this study were evaluated across multiple assessments between early childhood (M = 3.9 years) and adulthood (M = 26.6 years). In early childhood, responsiveness to joint attention (RJA), language, and intelligence were assessed. In adulthood, the parents of participants responded to interviews assessing the adaptive functioning, autistic symptomology and global functioning of their children. RJA and early childhood language predicted a composite measure of adult social functioning and independence. Early childhood language skills and intelligence predicted adult adaptive behaviors. RJA predicted adult non-verbal communication, social skills and symptoms. Adaptive behaviors changed with development, but symptoms of autism did not. Additional factors associated with adult outcomes are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
9. Johnson RA, Lam M, Punzo AM, Li H, Lin BR, Ye K, et al. {{7,8-dihydroxyflavone (7,8-DHF) exhibits therapeutic efficacy in a mouse model of Rett syndrome}}. {J Appl Physiol}. 2011 Dec 22.
Rett syndrome (RTT), caused by mutations in the methyl-CpG binding protein 2 gene (Mecp2), is a debilitating autism spectrum developmental disorder predominantly affecting females. Mecp2 mutant mice have reduced levels of brain-derived neurotrophic factor (BDNF) in the brain; conditional deletion and overexpression of BDNF in the brain accelerates and slows, respectively, disease progression in Mecp2 mutant mice. Thus, we tested the hypothesis that 7,8-dihydroxyflavone (7,8-DHF), a small molecule reported to activate the high affinity BDNF receptor (TrkB) in the CNS, would attenuate disease progression in Mecp2 mutant mice. Following weaning, 7,8-DHF was administered in drinking water throughout life. Treated mutant mice lived significantly longer compared with untreated mutant littermates (80+/-4 and 66+/-2 days, respectively). 7,8-DHF delayed body weight loss, increased neuronal nuclei size and enhanced voluntary locomotor (running wheel) distance in Mecp2 mutant mice. In addition, administration of 7,8-DHF partially improved breathing pattern irregularities and returned tidal volumes to near wild-type levels. Thus, although the specific mechanisms are not completely known, 7,8-DHF appears to reduce disease symptoms in Mecp2 mutant mice and may have potential as a therapeutic treatment for RTT patients.
Lien vers le texte intégral (Open Access ou abonnement)
10. Lawton K, Kasari C. {{Brief Report: Longitudinal Improvements in the Quality of Joint Attention in Preschool Children with Autism}}. {J Autism Dev Disord}. 2011 Mar 29.
Children with autism exhibit deficits in their quantity and quality of joint attention. Early autism intervention studies rarely document improvement in joint attention quality. The purpose of this study was to determine whether there was a change in joint attention quality for preschoolers with autism who were randomized to a joint attention intervention, symbolic play intervention, or a control group. Quality was defined as shared positive affect during joint attention as well as shared positive affect and utterances during joint attention. Interactions of group and time were found for both types of joint attention quality. During the follow up visits, the joint attention and symbolic play intervention groups produced more of these two types of joint attention quality than the control group.
Lien vers le texte intégral (Open Access ou abonnement)
11. Lovell B, Moss M, Wetherell MA. {{With a little help from my friends: Psychological, endocrine and health corollaries of social support in parental caregivers of children with autism or ADHD}}. {Res Dev Disabil}. 2011 Dec 18;33(2):682-7.
Elevated psychological distress and concomitant dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis has been implicated as one pathway that links the stress of caregiving with adverse health outcomes. This study assessed whether perceived social support might mitigate the psychological, endocrine and health consequences of caregiver stress in parents of children with autism and attention deficit hyperactivity disorder (ADHD). Parental caregivers completed measures of psychological distress, perceived availability of social support and physical health complaints. To capture important parameters of the basal diurnal cortisol pattern, caregivers collected salivary cortisol at waking, 30min post waking, 1200h and 2200h on two consecutive weekdays. Psychological distress and self reported physical health complaints were inversely related to scores on all support subscales: tangible, belonging, self esteem and appraisal. Results further revealed a significant, positive association between magnitude of the cortisol awakening response (CAR) and caregivers’ self esteem. As a buffer between the stress of caregiving and adverse physical health outcomes, social support acts to reduce stress appraisals and mitigate disturbances of the HPA axis. Moving forward, intervention programmes might seek to increase caregivers’ perceived availability of social resources.
Lien vers le texte intégral (Open Access ou abonnement)
12. McGregor KK, Bean A. {{How Children with Autism Extend New Words}}. {J Speech Lang Hear Res}. 2011 Dec 22.
PURPOSE: How do children with autism spectrum disorders (ASD) extend a noun to the category of objects it labels? Given their tendency to perceive locally, their extensions might be too narrow. Given their social-communicative deficits and a context in which the knowledge of a social-communicative partner promotes narrow extensions, their extensions might be too broad. METHOD: We tested these predictions by comparing 25 high-functioning school-aged children with ASD to 29 age-matched peers with typical development (TD) in a task that required extraction of commonalities of object referents and use of social communicative context to support the category inference. RESULTS: The children with ASD readily extended a given noun to multiple exemplars thereby demonstrating tacit knowledge that words label categories and the ability to override local perceptual biases they might have. However, unlike their peers with TD, those who had concomitant weaknesses in semantic and syntactic language ability formed broad categories when their social partner’s behavior suggested narrow categories. CONCLUSIONS: Some, but not all, people with ASD fail to use social context to support inferences about word extension. The direction of any causal relationship between failure to use social contextual cues and language deficits awaits determination.
Lien vers le texte intégral (Open Access ou abonnement)
13. Mrozek-Budzyn D, Majewska R, Kieltyka A, Augustyniak M. {{[Lack of association between thimerosal-containing vaccines and autism]}}. {Przegl Epidemiol}. 2011;65(3):491-5.
In Poland, administered childhood vaccines still contain thimerosal as a preservative. Despite the access to mercury free formulas, the most of children are still vaccinated by thimerosal-containing vaccines (TCV) owing to economical reasons. That circumstances caused the rising discussion on potential harmful influence of TCVs on children health. The objective of this analysis was to determine an association of TCVs exposure with the risk of autism. Study population included 96 cases diagnosed with childhood or atypical autism and 192 controls matched individually by year of birth, gender, and physician’s practice. Data on autism diagnose and vaccination history were from GPs. Data on the other possible autism risk factors were collected from mothers. Conditional logistic regression was used to assess the risk of autism due to TCVs exposure. No significant association was found between TCVs exposure and autism. After adjusting to potential confounders, odds ratios of the risk of autism developing for infants vaccinated with TCVs were 1.52 (95% CI: 0.29-11.11) for doses 12.5-87.5 microg, 2.78 (95% CI: 0.29-11.11) for 100-137.5 microg and 1.97 (95% CI: 0.37-18.95) for these exposed > or = 150 microg. Our study revealed no evidence of an association between TCVs and autism.
14. Pan CH, Tsai S. {{Early intervention with psychostimulants or antidepressants to increase methyl-CpG-binding protein 2 (MeCP2) expressions: A potential therapy for Rett syndrome}}. {Med Sci Monit}. 2011 Dec 22;18(1):HY1-3.
Rett syndrome (RTT) is a severe X-linked postnatal neurodevelopmental disorder. The syndrome is caused primarily by mutations in the methyl CpG binding protein 2 (MeCP2) gene on Xq28. Most individuals with RTT are female, and female RTT is normally heterozygous for mutations in MeCP2. Patients with RTT display a normal period of development prior to the onset of symptoms, at which point they undergo a period of regression. Currently, no effective medication is available for this disorder, although animal studies have suggested that RTT symptoms are potentially reversible. For females with RTT, the severity of symptoms and progression of the disease varies a great deal, despite its homogenous genetic origin. These differences could be attributed to differences in the mutation points of MeCP2 and the skew caused by X-chromosome inactivation. Thus, the increased expression in the normal MeCP2 gene could decrease the severity of the disease. Based on findings from studies on animals indicating that fluoxetine (an antidepressant) and cocaine (a psychostimulant) can increase MeCP2 expression in the brain, it is suggested that early intervention with antidepressants or psychostimulants could increase the normal MeCP2 expression in females with RTT, who are normally heterozygous. This therapeutic hypothesis could be tested in an RTT animal model. Following the identification of the antidepressants or psychostimulants with the greatest influence on MeCP2 expression, a combination of early detection of the disorder with early intervention may result in improved therapeutic outcomes. Furthermore, a trial investigating the effects of antidepressants or psychostimulants on MeCP2 expression in lymphocyte culture from patients with RTT is suggested for clinical therapeutic prediction.
15. Paton B, Hohwy J, Enticott PG. {{The Rubber Hand Illusion Reveals Proprioceptive and Sensorimotor Differences in Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2011 Dec 22.
Autism spectrum disorder (ASD) is characterised by differences in unimodal and multimodal sensory and proprioceptive processing, with complex biases towards local over global processing. Many of these elements are implicated in versions of the rubber hand illusion (RHI), which were therefore studied in high-functioning individuals with ASD and a typically developing control group. Both groups experienced the illusion. A number of differences were found, related to proprioception and sensorimotor processes. The ASD group showed reduced sensitivity to visuotactile-proprioceptive discrepancy but more accurate proprioception. This group also differed on acceleration in subsequent reach trials. Results are discussed in terms of weak top-down integration and precision-accuracy trade-offs. The RHI appears to be a useful tool for investigating multisensory processing in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
16. Siegel M, Doyle K, Chemelski B, Payne D, Ellsworth B, Harmon J, et al. {{Specialized Inpatient Psychiatry Units for Children with Autism and Developmental Disorders: A United States Survey}}. {J Autism Dev Disord}. 2011 Dec 22.
A cross sectional survey was performed to obtain the characteristics of specialized inpatient psychiatry units exclusively serving children with autism and other developmental disorders in the United States. Identified units were surveyed on basic demographic characteristics, clinical challenges and therapeutic modalities. Average length of stay was 42.3 days, children with autism spectrum disorders constituted the majority of the inpatient population (62.5-87.5%), and obtaining adequate post-discharge services was identified as the greatest challenge. Health policy implications and future research directions are suggested.
