1. Brewer R, Happe F, Cook R, Bird G. {{Commentary on « Autism, oxytocin and interoception »: Alexithymia, not Autism Spectrum Disorders, is the consequence of interoceptive failure}}. {Neurosci Biobehav Rev};2015 (Jul 17)
In « Autism, oxytocin and interoception » (Neuroscience and Biobehavioral Reviews 47, 410-430) Quattrocki and Friston present their theory of the role of oxytocin in interoception from multiple perspectives. The arguments contained therein are compelling, and highlight the fact that interoception, and the role of oxytocin in interoception, should receive more research attention. However, in addition to outlining the role of oxytocin in interoception the authors also suggest that Autism Spectrum Disorder (ASD) is a result of a failure of this system. It is this latter claim that we disagree with, instead suggesting that alexithymia, rather than autism, is most accurately characterised as a general failure of interoception. We review positive evidence that alexithymia produces several of the deficits identified as indicating a failure of interoception, and negative evidence that ASD (in the absence of comorbid alexithymia) is associated with these deficits. We highlight implications for the model, for oxytocin research, and for the clinical management of psychiatric conditions more generally.
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2. Egawa J, Watanabe Y, Sugimoto A, Nunokawa A, Shibuya M, Igeta H, Inoue E, Hoya S, Orime N, Hayashi T, Sugiyama T, Someya T. {{Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study}}. {Psychiatry Res};2015 (Jul 10)
Two truncating variations (WDR90 V1125fs and EFCAB5 L1210fs), identified by whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder (ASD), were not detected in 257 ASD patients, 677 schizophrenia patients or 667 controls in a follow-up study. Thus, these variations were exclusively identified in the family, suggesting that rare truncating variations may have a role in the genetic etiology of ASD, at least in a subset of ASD patients.
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3. Eslick GD. {{Answers regarding the link between vaccines and the development of autism: A question of appropriate study design, ethics, and bias}}. {Vaccine};2015 (Jul 18)
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4. Estes ML, McAllister AK. {{Immune mediators in the brain and peripheral tissues in autism spectrum disorder}}. {Nat Rev Neurosci};2015 (Jul 20);16(8):469-486.
Increasing evidence points to a central role for immune dysregulation in autism spectrum disorder (ASD). Several ASD risk genes encode components of the immune system and many maternal immune system-related risk factors – including autoimmunity, infection and fetal reactive antibodies – are associated with ASD. In addition, there is evidence of ongoing immune dysregulation in individuals with ASD and in animal models of this disorder. Recently, several molecular signalling pathways – including pathways downstream of cytokines, the receptor MET, major histocompatibility complex class I molecules, microglia and complement factors – have been identified that link immune activation to ASD phenotypes. Together, these findings indicate that the immune system is a point of convergence for multiple ASD-related genetic and environmental risk factors.
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5. Grubisic V, Parpura V. {{The second brain in autism spectrum disorder: could connexin 43 expressed in enteric glial cells play a role?}}. {Front Cell Neurosci};2015;9:242.
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6. Kamio Y, Haraguchi H, Stickley A, Ogino K, Ishitobi M, Takahashi H. {{Brief Report: Best Discriminators for Identifying Children with Autism Spectrum Disorder at an 18-Month Health Check-Up in Japan}}. {J Autism Dev Disord};2015 (Jul 19)
To determine the best discriminative items for identifying young children with autism spectrum disorders (ASD), we conducted a secondary analysis using longitudinal cohort data that included the Japanese version of the 23-item modified checklist for autism in toddlers (M-CHAT-JV). M-CHAT-JV data at 18 months of age and diagnostic information evaluated at age 3 or later from 1851 Japanese children was used to isolate six highly discriminative items. Using data from two different community samples (n = 1851, n = 665) these items were shown to have comparable psychometric values with those of the full version. Our results suggest that these items might work as a short form screener for early identification of ASD in primary care settings where there are time constraints on screening.
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7. Khowaja K, Salim SS. {{Heuristics to Evaluate Interactive Systems for Children with Autism Spectrum Disorder (ASD)}}. {PLoS One};2015;10(7):e0132187.
In this paper, we adapted and expanded a set of guidelines, also known as heuristics, to evaluate the usability of software to now be appropriate for software aimed at children with autism spectrum disorder (ASD). We started from the heuristics developed by Nielsen in 1990 and developed a modified set of 15 heuristics. The first 5 heuristics of this set are the same as those of the original Nielsen set, the next 5 heuristics are improved versions of Nielsen’s, whereas the last 5 heuristics are new. We present two evaluation studies of our new heuristics. In the first, two groups compared Nielsen’s set with the modified set of heuristics, with each group evaluating two interactive systems. The Nielsen’s heuristics were assigned to the control group while the experimental group was given the modified set of heuristics, and a statistical analysis was conducted to determine the effectiveness of the modified set, the contribution of 5 new heuristics and the impact of 5 improved heuristics. The results show that the modified set is significantly more effective than the original, and we found a significant difference between the five improved heuristics and their corresponding heuristics in the original set. The five new heuristics are effective in problem identification using the modified set. The second study was conducted using a system which was developed to ascertain if the modified set was effective at identifying usability problems that could be fixed before the release of software. The post-study analysis revealed that the majority of the usability problems identified by the experts were fixed in the updated version of the system.
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8. Kiani R, Lawden M, Eames P, Critchley P, Bhaumik S, Odedra S, Gumber R. {{Anti-NMDA-receptor encephalitis presenting with catatonia and neuroleptic malignant syndrome in patients with intellectual disability and autism}}. {BJPsych Bull};2015 (Feb);39(1):32-35.
We report anti-N-methyl-d-aspartate (NMDA) receptor encephalitis in two patients with autism and intellectual disability presenting with neuropsychiatric symptoms of catatonia and neuroleptic malignant syndrome. Case reports such as these help raise awareness of this clinical issue. By paving the way for earlier diagnoses they ultimately maximise the potential for curative treatments and prevention of long-term complications.
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9. Smith D, Ropar D, Allen HA. {{Visual integration in autism}}. {Front Hum Neurosci};2015;9:387.
Atypical integration is a topic of debate in the autism literature. Some theories suggest that altered perception in autism spectrum disorder (ASD) is due to a failure to integrate information from meaningful context into the final percept, whereas others suggest that integration of low-level features is impaired. Empirical research which forms the basis for these theories has failed to account for higher-level influences not inherent in the stimuli (i.e., instructions and goals) and assess integration at both lower and higher perceptual levels within the same task. Here, we describe how perceived expectations and goals of a task can modulate the processing of low-level visual input via the medial prefrontal cortex (mPFC). We then go on to illustrate how future research might assess the relative contribution of both low and high-level processes using the same paradigm. We conclude by recommending that when results appear conflicting, consideration of the relative strength of low-level input vs. feedback or high-level processes may prove helpful. Importantly, research in this area needs to more broadly consider the various influences on perception, and find better ways to assess the contributions of early and later visual processes.
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10. Stewart ME, Griffiths TD, Grube M. {{Autistic Traits and Enhanced Perceptual Representation of Pitch and Time}}. {J Autism Dev Disord};2015 (Jul 19)
Enhanced basic perceptual discrimination has been reported for pitch in individuals with autism spectrum conditions. We test whether there is a correlational pattern of enhancement across the broader autism phenotype and whether this correlation occurs for the discrimination of pitch, time and loudness. Scores on the Autism-Spectrum Quotient correlated significantly with the pitch discrimination (r = -0.51, p < 0.05) and the time-interval discrimination (r = -0.45, p < 0.05) task that were based on a fixed reference. No correlation was found for intensity discrimination based on a fixed reference, nor for a variable reference based time-interval discrimination. The correlations suggest a relationship between autistic traits and the ability to form an enhanced, stable and highly accurate representation of auditory events in the pitch and time dimensions.
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11. Storch EA, Zavrou S, Collier AB, Ung D, Arnold EB, Mutch PJ, Lewin AB, Murphy TK. {{Preliminary study of family accommodation in youth with autism spectrum disorders and anxiety: Incidence, clinical correlates, and behavioral treatment response}}. {J Anxiety Disord};2015 (Jul 8);34:94-99.
Anxiety symptoms are common in youth with autism spectrum disorders (ASD) and directly associated with symptom severity and functional impairment. Family accommodation occurs frequently among individuals with obsessive-compulsive and anxiety disorders; to date, no data exist on the nature and correlates of family accommodation in youth with ASD and anxiety, as well as its relationship to cognitive-behavioral therapy outcome. Forty children with ASD and a comorbid anxiety disorder participated. Clinicians administered measures of ASD and anxiety disorder caseness, anxiety symptom severity, and family accommodation; parents completed questionnaires assessing social responsiveness, internalizing and externalizing behaviors, and functional impairment. A subsample of youth (n=24) completed a course of cognitive-behavioral therapy. Family accommodation was common and positively correlated with anxiety symptom severity, but not functional impairment, general internalizing symptoms, externalizing behavior, or social responsiveness. Family accommodation decreased following cognitive-behavioral therapy with decreases in family accommodation being associated with decreases in anxiety levels. Treatment responders reported lower family accommodation frequency and lower parent impact relative to non-responders. Clinical implications of this study in assessing and psychotherapeutically treating youth with ASD and comorbid anxiety are discussed.
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12. Stough CO, Dreyer Gillette ML, Roberts MC, Jorgensen TD, Patton SR. {{Mealtime behaviors associated with consumption of unfamiliar foods by young children with autism spectrum disorder}}. {Appetite};2015 (Jul 21)
Parent and child mealtime behaviors associated with consumption of unfamiliar foods by children with ASD were examined. Families of 38 children aged 2 through 8 years old and diagnosed with ASD videotaped a typical home mealtime during which parents presented the child with an unfamiliar food and mealtime behaviors were subsequently coded through an observational coding system. The child taking sips of their drink was the only behavior related to whether the child took a bite of the unfamiliar food throughout the course of the meal. Parent direct commands and parents feeding the child were related to greater frequency of subsequent bites in a close temporal window, while child play, the child being away from the table, and child talk about things other than food related to lower frequencies of subsequent bites. Clinical interventions for food selectivity in children with ASD might provide parents education on effective mealtime parenting strategies and decreasing inappropriate child mealtime behaviors.
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13. van der Laan EP, Euser AM, van Balkom ID. {{[The social dimension of quality of life within the care for adults with autism; two philosophical concepts that may provide practical tools to caregivers]}}. {Tijdschr Psychiatr};2015;57(7):526-530.
BACKGROUND: The conceptualisation of quality of life of adults in treatment for autism has received very little attention in the medical literature. AIM: To clarify, from a philosophical perspective, two concepts, namely relational autonomy and coping, which contribute to quality of life and which, we believe, are easily applicable in the care for adults with autism. METHOD: We conducted a selective review of relevant medical and philosophical literature. We clarify the concepts of ‘relational autonomy’ and ‘coping’, present a case and discuss possible practical applications of the aforementioned concepts in clinical practice. RESULTS: We clarify from a philosophical point of view the concepts of relational autonomy and coping, how these concepts contribute to the quality of life and how they can be used in the daily provision of care. The care-givers should see a patient primarily as a person, and should be aware that the division of roles between patient and care-givers implies certain forms of communication. By utilising the relational aspects, the therapist and the care supervisor within the care relationship have the means, uniquely tailored to the person and the domain, to increase the patient’s autonomy and consequently his/her quality of life. CONCLUSION: If the two concepts, relational autonomy and coping, are operationalised and applied in a straightforward manner in clinical practice, it should be possible to improve the quality of life of adults with autism.
14. Wang T, de Kok L, Willemsen R, Elgersma Y, Borst JG. {{In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome}}. {Front Cell Neurosci};2015;9:234.
Defects in the rat sarcoma viral oncogene homolog (Ras)/extracellular-signal-regulated kinase and the phosphatidylinositol 3-kinase-mammalian target of rapamycin (mTOR) signaling pathways are responsible for several neurodevelopmental disorders. These disorders are an important cause for intellectual disability; additional manifestations include autism spectrum disorder, seizures, and brain malformations. Changes in synaptic function are thought to underlie the neurological conditions associated with these syndromes. We therefore studied morphology and in vivo synaptic transmission of the calyx of Held synapse, a relay synapse in the medial nucleus of the trapezoid body (MNTB) of the auditory brainstem, in mouse models of tuberous sclerosis complex (TSC), Fragile X syndrome (FXS), Neurofibromatosis type 1 (NF1), and Costello syndrome. Calyces from both Tsc1(+/-) and from Fmr1 knock-out (KO) mice showed increased volume and surface area compared to wild-type (WT) controls. In addition, in Fmr1 KO animals a larger fraction of calyces showed complex morphology. In MNTB principal neurons of Nf1 (+/) (-) mice the average delay between EPSPs and APs was slightly smaller compared to WT controls, which could indicate an increased excitability. Otherwise, no obvious changes in synaptic transmission, or short-term plasticity were observed during juxtacellular recordings in any of the four lines. Our results in these four mutants thus indicate that abnormalities of mTOR or Ras signaling do not necessarily result in changes in in vivo synaptic transmission.
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15. Zeidan-Chulia F, de Oliveira BN, Casanova MF, Casanova EL, Noda M, Salmina AB, Verkhratsky A. {{Up-Regulation of Oligodendrocyte Lineage Markers in the Cerebellum of Autistic Patients: Evidence from Network Analysis of Gene Expression}}. {Mol Neurobiol};2015 (Jul 21)
Autism is a neurodevelopmental disorder manifested by impaired social interaction, deficits in communication skills, restricted interests, and repetitive behaviors. In neurodevelopmental, neurodegenerative, and psychiatric disorders, glial cells undergo morphological, biochemical, and functional rearrangements, which are critical for neuronal development, neurotransmission, and synaptic connectivity. Cerebellar function is not limited to motor coordination but also contributes to cognition and may be affected in autism. Oligodendrocytes and specifically oligodendroglial precursors are highly susceptible to oxidative stress and excitotoxic insult. In the present study, we searched for evidence for developmental oligodendropathy in the context of autism by performing a network analysis of gene expression of cerebellar tissue. We created an in silico network model (OLIGO) showing the landscape of interactions between oligodendrocyte markers and demonstrated that more than 50 % (16 out of 30) of the genes within this model displayed significant changes of expression (corrected p value <0.05) in the cerebellum of autistic patients. In particular, we found up-regulation of OLIG2-, MBP-, OLIG1-, and MAG-specific oligodendrocyte markers. We postulate that aberrant expression of oligodendrocyte-specific genes, potentially related to changes in oligodendrogenesis, may contribute to abnormal cerebellar development, impaired myelination, and anomalous synaptic connectivity in autism spectrum disorders (ASD).
