1. De Marco M, Iavarone A, Santoro G, Carlomagno S. {{Brief Report: Two Day-Date Processing Methods in an Autistic Savant Calendar Calculator}}. {J Autism Dev Disord};2015 (Oct 17)
Special ability in computing the day of week for given dates was observed in a 24 year-old male (FB) diagnosed with Asperger syndrome. FB performed almost flawlessly (98.2 %) both with past and future dates, over a span of 40 years. Response latency was slower as temporal remoteness of future dates increased. Within the future timespan, FB’s performance was consistent with the active use of calendar regularities. On the contrary, within the past timespan (for which no remoteness effect was seen), his performance was mainly linked to memory retrieval of personal events. The case presented here complements the existent literature on calendar calculators, as, for first time, two distinct day-date processing styles are described in the same individual.
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2. Downs J, Hotopf M, Ford T, Simonoff E, Jackson RG, Shetty H, Stewart R, Hayes RD. {{Clinical predictors of antipsychotic use in children and adolescents with autism spectrum disorders: a historical open cohort study using electronic health records}}. {Eur Child Adolesc Psychiatry};2015 (Oct 15)
Children with autism spectrum disorders (ASD) are more likely to receive antipsychotics than any other psychopharmacological medication, yet the psychiatric disorders and symptoms associated with treatment are unclear. We aimed to determine the predictors of antipsychotic use in children with ASD receiving psychiatric care. The sample consisted of 3482 children aged 3-17 with an ICD-10 diagnosis of ASD referred to mental health services between 2008 and 2013. Antipsychotic use outcome, comorbid diagnoses, and other clinical covariates, including challenging behaviours were extracted from anonymised patient records. Of the 3482 children (79 % male) with ASD, 348 (10 %) received antipsychotic medication. The fully adjusted model indicated that comorbid diagnoses including hyperkinetic (OR 1.44, 95 %CI 1.01-2.06), psychotic (5.71, 3.3-10.6), depressive (2.36, 1.37-4.09), obsessive-compulsive (2.31, 1.16-4.61) and tic disorders (2.76, 1.09-6.95) were associated with antipsychotic use. In addition, clinician-rated levels of aggression, self-injurious behaviours, reduced adaptive function, and overall parental concern for their child’s presenting symptoms were significant risk factors for later antipsychotic use. In ASD, a number of comorbid psychiatric disorders are independent predictors for antipsychotic treatment, even after adjustment for familial, socio-demographic and individual factors. As current trial evidence excludes children with comorbidity, more pragmatic randomised controlled trials with long-term drug monitoring are needed.
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3. Hoffmann F, Koehne S, Steinbeis N, Dziobek I, Singer T. {{Preserved Self-other Distinction During Empathy in Autism is Linked to Network Integrity of Right Supramarginal Gyrus}}. {J Autism Dev Disord};2015 (Oct 17)
Autism spectrum disorder (ASD) shows deficits in self-other distinction during theory of mind (ToM). Here we investigated whether ASD patients also show difficulties in self-other distinction during empathy and if potential deficits are linked to dysfunctional resting-state connectivity patterns. In a first study, ASD patients and controls performed an emotional egocentricity paradigm and a ToM task. In the second study, resting-state connectivity of right temporo-parietal junction and right supramarginal gyrus (rSMG) were analysed using a large-scale fMRI data set. ASD patients exhibited deficient ToM but normal emotional egocentricity, which was paralleled by reduced connectivity of regions of the ToM network and unimpaired rSMG network connectivity. These results suggest spared self-other distinction during empathy and an intact rSMG network in ASD.
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4. Huijbregts SC, Loitfelder M, Rombouts SA, Swaab H, Verbist BM, Arkink EB, Van Buchem MA, Veer IM. {{Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms}}. {J Neurodev Disord};2015;7:32.
BACKGROUND: Neurofibromatosis type 1 (NF1) is a single-gene neurodevelopmental disorder, in which social and cognitive problems are highly prevalent. Several commonly observed central nervous system (CNS) abnormalities in NF1 might underlie these social and cognitive problems. Cerebral volumetric abnormalities are among the most consistently observed CNS abnormalities in NF1. This study investigated whether differences were present between NF1 patients and healthy controls (HC) in volumetric measures of cortical and subcortical brain regions and whether differential associations existed for NF1 patients and HC between the volumetric measures and parent ratings of social skills, attention problems, social problems, autistic mannerisms, and executive dysfunction. METHODS: Fifteen NF1 patients (mean age 12.9 years, SD 2.6) and 18 healthy controls (HC, mean age 13.8 years, SD 3.6) underwent 3 T MRI scanning. Segmentation of cortical gray and white matter, as well as volumetry of subcortical nuclei, was carried out. Voxel-based morphometry was performed to assess cortical gray matter density. Correlations were calculated, for NF1-patients and HC separately, between MRI parameters and scores on selected dimensions of the following behavior rating scales: the Social Skills Rating System, the Child Behavior Checklist, the Social Responsiveness Scale, the Behavior Rating Inventory of Executive Functioning, and the Dysexecutive Questionnaire. RESULTS: After correction for age, sex, and intracranial volume, larger volumes of all subcortical regions were found in NF1 patients compared to controls. Patients further showed decreased gray matter density in midline regions of the frontal and parietal lobes and larger total white matter volume. Significantly more social and attention problems, more autistic mannerisms, and poorer executive functioning were reported for NF1 patients compared to HC. In NF1 patients, larger left putamen volume and larger total white matter volume were associated with more social problems and poorer executive functioning, larger right amygdala volume with poorer executive functioning and autistic mannerisms, and smaller precentral gyrus gray matter density was associated with more social problems. In controls, only significant negative correlations were observed: larger volumes (and greater gray matter density) were associated with better outcomes. CONCLUSIONS: Widespread volumetric differences between patients and controls were found in cortical and subcortical brain regions. In NF1 patients but not HC, larger volumes were associated with poorer behavior ratings.
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5. Lazenby DC, Sideridis GD, Huntington N, Prante M, Dale PS, Curtin S, Henkel L, Iverson JM, Carver L, Dobkins K, Akshoomoff N, Tagavi D, Nelson CA, 3rd, Tager-Flusberg H. {{Language Differences at 12 Months in Infants Who Develop Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Oct 17)
Little is known about early language development in infants who later develop autism spectrum disorder (ASD). We analyzed prospective data from 346 infants, some of whom were at high risk for developing ASD, to determine if language differences could be detected at 12 months of age in the infants who later were diagnosed with ASD. Analyses revealed lower receptive and expressive language scores in infants who later were diagnosed with ASD. Controlling for overall ability to understand and produce single words, a Rasch analysis indicated that infants who later developed ASD had a higher degree of statistically unexpected word understanding and production. At 12 months of age, quantitative and qualitative language patterns distinguished infants who later developed ASD from those who did not.
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6. Leno VC, Naples A, Cox A, Rutherford H, McPartland J. {{Common and Distinct Modulation of Electrophysiological Indices of Feedback Processing by Autistic and Psychopathic Traits}}. {Soc Neurosci};2015 (Oct 16)
Both autism spectrum disorder (ASD) and psychopathy are primarily characterized by social dysfunction; overlapping phenotypic features may reflect altered function in common brain mechanisms. The current study examined the degree to which neural response to social and non-social feedback is modulated by autistic versus psychopathic traits in a sample of typically-developing adults (N=31, 11 males, 18-52 years). Event-related potentials were recorded whilst participants completed a behavioral task and received feedback on task performance. Both autistic and psychopathic traits were associated with alterations in the neural correlates of feedback processing. Sensitivity to specific forms of feedback (social, non-social, positively-valenced, negatively-valenced) differed between the two traits. Autistic traits were associated with decreased sensitivity to social feedback. In contrast, the antisocial domain of psychopathic traits was associated with an overall decrease in sensitivity to feedback, and the interpersonal manipulation domain was associated with preserved processing of positively-valenced feedback. Results suggest distinct alterations within specific mechanisms of feedback processing may underlie similar difficulties in social behavior.
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7. McHale SM, Updegraff KA, Feinberg ME. {{Siblings of Youth with Autism Spectrum Disorders: Theoretical Perspectives on Sibling Relationships and Individual Adjustment}}. {J Autism Dev Disord};2015 (Oct 17)
A burgeoning research literature investigates the sibling relationships of youth with autism spectrum disorder (ASD) and their implications for individual adjustment. Focusing on four relationship domains-behaviors, emotions, cognitions and involvement-and toward advancing this generally atheoretical literature, we review and apply tenets from a range of theoretical perspectives in an effort to illuminate the mechanisms underlying sibling relationship experiences and their adjustment implications. Our review suggests new directions for research to test theoretically-grounded hypotheses about how sibling relationships develop and are linked to individual adjustment. In addition, we consider how identifying underlying bio-psycho-social processes can aid in the development of interventions to promote warm and involved sibling relationships and positive youth development.
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8. Pecorelli A, Cervellati F, Belmonte G, Montagner G, Waldon P, Hayek J, Gambari R, Valacchi G. {{Cytokines profile and peripheral blood mononuclear cells morphology in Rett and autistic patients}}. {Cytokine};2015 (Oct 12)
A potential role for immune dysfunction in autism spectrum disorders (ASD) has been well established. However, immunological features of Rett syndrome (RTT), a genetic neurodevelopmental disorder closely related to autism, have not been well addressed yet. By using multiplex Luminex technology, a panel of 27 cytokines and chemokines was evaluated in serum from 10 RTT patients with confirmed diagnosis of MECP2 mutation (typical RTT), 12 children affected by classic autistic disorder and 8 control subjects. The cytokine/chemokine gene expression was assessed by real time PCR on mRNA of isolated peripheral blood mononuclear cells (PBMCs). Moreover, ultrastructural analysis of PBMCs was performed using transmission electron microscopy (TEM). Significantly higher serum levels of interleukin-8 (IL-8), IL-9, IL-13 were detected in RTT compared to control subjects, and IL-15 shows a trend toward the upregulation in RTT. In addition, IL-1beta and VEGF were the only down-regulated cytokines in autistic patients with respect to RTT. No difference in cytokine/chemokine profile between autistic and control groups was detected. These data were also confirmed by ELISA real time PCR. At the ultrastructural level, the most severe morphological abnormalities were observed in mitochondria of both RTT and autistic PBMCs. In conclusion, our study shows a deregulated cytokine/chemokine profile together with morphologically altered immune cells in RTT. Such abnormalities were not quite as evident in autistic subjects. These findings indicate a possible role of immune dysfunction in RTT making the clinical features of this pathology related also to the immunology aspects, suggesting, therefore, novel possible therapeutic interventions for this disorder.
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9. Russell AJ, Murphy CM, Wilson E, Gillan N, Brown C, Robertson DM, Craig MC, Deeley Q, Zinkstok J, Johnston K, McAlonan GM, Spain D, Murphy DG. {{The mental health of individuals referred for assessment of autism spectrum disorder in adulthood: A clinic report}}. {Autism};2015 (Oct 15)
Growing awareness of autism spectrum disorders has increased the demand for diagnostic services in adulthood. High rates of mental health problems have been reported in young people and adults with autism spectrum disorder. However, sampling and methodological issues mean prevalence estimates and conclusions about specificity in psychiatric co-morbidity in autism spectrum disorder remain unclear. A retrospective case review of 859 adults referred for assessment of autism spectrum disorder compares International Classification of Diseases, Tenth Revision diagnoses in those that met criteria for autism spectrum disorder (n = 474) with those that did not (n = 385). Rates of psychiatric diagnosis (>57%) were equivalent across both groups and exceeded general population rates for a number of conditions. The prevalence of anxiety disorders, particularly obsessive compulsive disorder, was significantly higher in adults with autism spectrum disorder than adults without autism spectrum disorder. Limitations of this observational clinic study, which may impact generalisability of the findings, include the lack of standardised structured psychiatric diagnostic assessments by assessors blind to autism spectrum disorder diagnosis and inter-rater reliability. The implications of this study highlight the need for careful consideration of mental health needs in all adults referred for autism spectrum disorder diagnosis.
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10. Sahin M, Sur M. {{Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders}}. {Science};2015 (Oct 15)
Research in genetics of neurodevelopmental disorders such as autism suggests that several hundred genes are likely risk factors for these disorders. This heterogeneity presents a challenge and an opportunity at the same time. While the exact identity of many of the genes remains to be discovered, genes identified to date encode for proteins that play roles in certain conserved pathways: protein synthesis, transcriptional/epigenetic regulation and synaptic signaling. Next generation of research in neurodevelopmental disorders needs to address the neural circuitry underlying the behavioral symptoms and co-morbidities, the cell types playing critical roles in these circuits and common intercellular signaling pathways that link diverse genes. Results from clinical trials have been mixed so far. Only when we are able to leverage the heterogeneity of neurodevelopmental disorders into precision medicine, will the mechanism-based therapeutics for these disorders start to unlock success.
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11. Schipul SE, Just MA. {{Diminished Neural Adaptation during Implicit Learning in Autism}}. {Neuroimage};2015 (Oct 17)
Neuroimaging studies have shown evidence of disrupted neural adaptation during learning in individuals with autism spectrum disorder (ASD) in several types of tasks, potentially stemming from frontal-posterior cortical underconnectivity (Schipul et al., 2012). The aim of the current study was to examine neural adaptations in an implicit learning task that entails participation of frontal and posterior regions. Sixteen high-functioning adults with ASD and sixteen neurotypical control participants were trained on and performed an implicit dot pattern prototype learning task in a functional magnetic resonance imaging (fMRI) session. During the preliminary exposure to the type of implicit prototype learning task later to be used in the scanner, the ASD participants took longer than the neurotypical group to learn the task, demonstrating altered implicit learning in ASD. After equating task structure learning, the two groups’ brain activation differed during their learning of a new prototype in the subsequent scanning session. The main findings indicated that neural adaptations in a distributed task network were reduced in the ASD group, relative to the neurotypical group, and were related to ASD symptom severity. Functional connectivity was reduced and did not change as much during learning for the ASD group, and was related to ASD symptom severity. These findings suggest that individuals with ASD show altered neural adaptations during learning, as seen in both activation and functional connectivity measures. This finding suggests why many real-world implicit learning situations may pose special challenges for ASD.
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12. Sobotka SA, Francis A, Vander Ploeg Booth K. {{Associations of family characteristics with perceptions of care among parents of children with autism}}. {Child Care Health Dev};2015 (Oct 16)
BACKGROUND: Although autism spectrum disorder (ASD) is an increasingly common chronic disability, primary care provider (PCPs) report deficits in providing primary care for children with ASD, and parents report lapses in receipt of medical home services. In this study, we describe parental experiences with specific medical home components for their children with ASD. METHODS: We analysed data from all children within the National Survey of Children with Special Health Care Needs database with ASD and a usual place for care (n = 2859). We evaluated the receipt of core medical home components: accessible, comprehensive, coordinated, family centred and compassionate and culturally sensitive care. RESULTS: Children were mean age 10.1 years, and respondents were 75% mothers and 95% reported having a primary care provider (PCP). Seventy-one percent reported care to be usually comprehensive, over three-fourths of respondents reported care to be family centred and compassionate and 87% reported care to be culturally sensitive. Of the parents who reported a need for care coordination (n = 1049), only 14% of parents reported usually getting the help they needed. More educated, English-speaking, non-Hispanic White mothers of older children supported by private insurance were more likely to report never getting as much help coordinating care as desired. Coordination with education services are especially important for children with ASD, yet 27% of parents reported dissatisfaction with PCPs’ communication with schools or early intervention. CONCLUSION: Although parents report a high level of access to PCPs and places for care as well as receiving most core components of the medical home, care coordination activities are lacking for children with ASD. More resourced families are particularly likely to report unmet needs.
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13. Trevisan D, Birmingham E. {{Examining the relationship between autistic traits and college adjustment}}. {Autism};2015 (Oct 15)
We examined the relationship between characteristics associated with autism spectrum disorder and college adjustment in a sample of neurotypical college students. Using the Broad Autism Phenotype Questionnaire and the Student Adaptation to College Questionnaire, we found that higher levels of autism spectrum disorder characteristics were associated with poorer adjustment to college. One subscale of the Broad Autism Phenotype Questionnaire, pragmatic language difficulties, explained the most variance in adjustment. In addition, students who met the previously established cut-off scores for possessing the broad autism phenotype scored significantly lower on all Student Adaptation to College Questionnaire subscales. Finally, pragmatic language difficulties mediated the relationship between college major and academic adjustment. These findings underscore the need for future research to examine how pragmatic language difficulties may impede college success in students with autism spectrum disorder and in the typical population.
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14. Vanya M, Szucs S, Szili K, Vetro A, Bartfai G. {{[The possibility of prenatal diagnosis of autism spectrum disorder]}}. {Psychiatr Hung};2015;30(3):303-307.
The autism spectrum disorder (ASD) is idiopathic multifactorial diseases. Chromosomal abnormalities could be found only in the few percent (0.3-0.6) of cases. The estimated prevalence is 0.6 in Europe and the prevalence of the disease has been increased in last few decades. ASD have an impact on the quality of life of the patient and his family. The early diagnosis of ASD is most important. There are limited data regarding the measure of biparietal diameter (BPD) of the fetus in the first trimester of pregnancy. These data suggested the BPD is an important screening marker for ASD, but the complex prenatal screening is unresolved. There is a need for further investigations of the genetic background of ASD and to identify potentially first trimester ultrasound markers for ASD.
15. Wakeford S, Hinvest N, Ring H, Brosnan M. {{Autistic characteristics in adults with epilepsy and perceived seizure activity}}. {Epilepsy Behav};2015 (Oct 13);52(Pt A):244-250.
The prevalence of autism spectrum disorders in epilepsy is approximately 15%-47%, with previous research by Wakeford and colleagues reporting higher autistic traits in adults with epilepsy. The aim of this study was to investigate autistic characteristics and their relationship to having seizures by employing two behavioral assessments in two samples: adults with epilepsy and controls. METHOD: The study employed the Social Responsiveness Scale – Shortened (SRS-S) (patients with epilepsy (n=76), control (n=19)) and the brief Repetitive Behavior Scale – Revised (RBS-R) (patients with epilepsy (n=47), control (n=21)). This study employed a unique method to quantify the extent to which autistic characteristics are related to perceived mild seizure activity. Adults with epilepsy were instructed to rate their usual behavior on each assessment and, at the same time, rate their behavior again when they perceived that they were having mild seizure activity. RESULTS: Significantly higher SRS-S scores were related to having a diagnosis of epilepsy and were perceived by adults with epilepsy to increase during mild seizure activity. These scores positively correlated with antiepileptic drug control. No difference was found for RBS-R scores in adults with epilepsy compared with controls. CONCLUSION: Together, these results suggest that adults with epilepsy have higher autistic characteristics measured by the social responsiveness scale, while sameness behaviors remain unimpaired. The autistic characteristics measured by the social responsiveness scale were reported by adults with epilepsy to be more severe during their mild seizure activity.
