1. Cosbey J, Muldoon D. {{EAT-UP Family-Centered Feeding Intervention to Promote Food Acceptance and Decrease Challenging Behaviors: A Single-Case Experimental Design Replicated Across Three Families of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov 30)
This study evaluated the effectiveness of a family-centered feeding intervention, Easing Anxiety Together with Understanding and Perseverance (EAT-UP), for promoting food acceptance of children with autism spectrum disorder at home. A concurrent multiple-baseline design was used with systematic replication across three families. Baseline was followed by an ‘Intervention-Coaching’ phase and then an ‘Intervention-Independent’ phase. Using direct observation and pre- and post-intervention questionnaires, data on acceptance of less preferred foods and challenging mealtime behaviors were collected. Procedural fidelity was monitored throughout all study phases. Data were analyzed using visual analysis and measures of effect size. All children demonstrated increases in food acceptance (effect size >0.90) and dietary diversity and decreased challenging behaviors. Implications for practice and research are discussed.
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2. Croy I, Geide H, Paulus M, Weidner K, Olausson H. {{Affective touch awareness in mental health and disease relates to autistic traits – An explorative neurophysiological investigation}}. {Psychiatry Res};2016 (Nov 30);245:491-496.
Affective touch is important for social interaction within families and groups and there is evidence that unmyelinated C tactile fibers are involved in this process. Individuals with autism spectrum disorders show alterations in the perception and processing of affective touch. sThus, we hypothesized that affective touch awareness based on C tactile fiber activation is impaired in individuals with high levels of autistic trait. The pleasantness perception of optimal and suboptimal C tactile stimuli was tested in an explorative study in 70 patients recruited from an outpatient psychotherapy clinic and 69 healthy comparison subjects. All participants completed questionnaires about autistic traits, depressive symptomatology, childhood maltreatment, and about the daily amount of touch. Relative to comparison subjects, patients reported engaging in touch less frequently in daily life and rated touch less pleasant. Reduced valence ratings of touch were explained by childhood maltreatment but not by any particular disorder or depression severity. Among all tested variables, the affective touch awareness correlated with autistic traits only – in patients as well as in comparison subjects. Taken together, individuals with mental health issues have a lower baseline of expression and reception of affective touch. Autistic traits and childhood maltreatment modulate the experience of affective touch.
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3. Ewbank MP, Pell PJ, Powell TE, von dem Hagen EA, Baron-Cohen S, Calder AJ. {{Repetition Suppression and Memory for Faces is Reduced in Adults with Autism Spectrum Conditions}}. {Cereb Cortex};2016 (Nov 30)
Autism spectrum conditions (ASC) are associated with a number of atypicalities in face processing, including difficulties in face memory. However, the neural mechanisms underlying this difficulty are unclear. In neurotypical individuals, repeated presentation of the same face is associated with a reduction in activity, known as repetition suppression (RS), in the fusiform face area (FFA). However, to date, no studies have investigated RS to faces in individuals with ASC, or the relationship between RS and face memory. Here, we measured RS to faces and geometric shapes in individuals with a clinical diagnosis of an ASC and in age and IQ matched controls. Relative to controls, the ASC group showed reduced RS to faces in bilateral FFA and reduced performance on a standardized test of face memory. By contrast, RS to shapes in object-selective regions and object memory did not differ between groups. Individual variation in face-memory performance was positively correlated with RS in regions of left parietal and prefrontal cortex. These findings suggest difficulties in face memory in ASC may be a consequence of differences in the way faces are stored and/or maintained across a network of regions involved in both visual perception and short-term/working memory.
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4. Green SA, Hernandez L, Bookheimer SY, Dapretto M. {{Reduced modulation of thalamocortical connectivity during exposure to sensory stimuli in ASD}}. {Autism Res};2016 (Nov 29)
Recent evidence for abnormal thalamic connectivity in autism spectrum disorders (ASD) and sensory processing disorders suggests the thalamus may play a role in sensory over-responsivity (SOR), an extreme negative response to sensory stimuli, which is common in ASD. However, there is yet little understanding of changes in thalamic connectivity during exposure to aversive sensory inputs in individuals with ASD. In particular, the pulvinar nucleus of the thalamus is implicated in atypical sensory processing given its role in selective attention, regulation, and sensory integration. This study aimed to examine the role of pulvinar connectivity in ASD during mildly aversive sensory input. Functional magnetic resonance imaging was used to examine connectivity with the pulvinar during exposure to mildly aversive auditory and tactile stimuli in 38 youth (age 9-17; 19 ASD, 19 IQ-matched typically developing (TD)). Parents rated children’s SOR severity on two standard scales. Compared to TD, ASD participants displayed aberrant modulation of connectivity between pulvinar and cortex (including sensory-motor and prefrontal regions) during sensory stimulation. In ASD participants, pulvinar-amygdala connectivity was correlated with severity of SOR symptoms. Deficits in modulation of thalamocortical connectivity in youth with ASD may reflect reduced thalamo-cortical inhibition in response to sensory stimulation, which could lead to difficulty filtering out and/or integrating sensory information. An increase in amygdala connectivity with the pulvinar might be partially responsible for deficits in selective attention as the amygdala signals the brain to attend to distracting sensory stimuli. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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5. Janc OA, Huser MA, Dietrich K, Kempkes B, Menzfeld C, Hulsmann S, Muller M. {{Systemic Radical Scavenger Treatment of a Mouse Model of Rett Syndrome: Merits and Limitations of the Vitamin E Derivative Trolox}}. {Front Cell Neurosci};2016;10:266.
Rett syndrome (RTT) is a severe neurodevelopmental disorder typically arising from spontaneous mutations in the X-chromosomal methyl-CpG binding protein 2 (MECP2) gene. The almost exclusively female Rett patients show an apparently normal development during their first 6-18 months of life. Subsequently, cognitive- and motor-impairment, hand stereotypies, loss of learned skills, epilepsy and irregular breathing manifest. Early mitochondrial impairment and oxidative challenge are considered to facilitate disease progression. Along this line, we recently confirmed in vitro that acute treatment with the vitamin E-derivative Trolox dampens neuronal hyperexcitability, reinstates synaptic plasticity, ameliorates cellular redox balance and improves hypoxia tolerance in male MeCP2-deficient (Mecp2-/y ) mouse hippocampus. Pursuing these promising findings, we performed a preclinical study to define the merit of systemic Trolox administration. Blinded, placebo-controlled in vivo treatment of male mice started at postnatal day (PD) 10-11 and continued for ~40 days. Compounds (vehicle only, 10 mg/kg or 40 mg/kg Trolox) were injected intraperitoneally every 48 h. Detailed phenotyping revealed that in Mecp2-/y mice, blood glucose levels, lipid peroxidation, synaptic short-term plasticity, hypoxia tolerance and certain forms of environmental exploration were improved by Trolox. Yet, body weight and size, motor function and the rate and regularity of breathing did not improve. In conclusion, in vivo Trolox treatment partially ameliorated a subset of symptoms of the complex Rett phenotype, thereby confirming a partial merit of the vitamin E-derivative based pharmacotherapy. Yet, it also became evident that frequent animal handling and the route of drug administration are critical issues to be optimized in future trials.
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6. Komeda H, Osanai H, Yanaoka K, Okamoto Y, Fujioka T, Arai S, Inohara K, Koyasu M, Kusumi T, Takiguchi S, Kawatani M, Kumazaki H, Hiratani M, Tomoda A, Kosaka H. {{Decision making processes based on social conventional rules in early adolescents with and without autism spectrum disorders}}. {Sci Rep};2016 (Nov 29);6:37875.
Autism spectrum disorder (ASD) is characterized by problems with reciprocal social interaction, repetitive behaviours/narrow interests, and impairments in the social cognition and emotional processing necessary for intention-based moral judgements. The aim of this study was to examine the information used by early adolescents with and without ASD when they judge story protagonists as good or bad. We predicted that adolescents with ASD would use protagonists’ behaviour, while typically developing (TD) adolescents would use protagonists’ characteristics when making the judgements. In Experiment 1, we measured sentence by sentence reading times and percentages for good or bad judgements. In Experiment 2, two story protagonists were presented and the participants determined which protagonist was better or worse. Experiment 1 results showed that the adolescents with ASD used protagonist behaviours and outcomes, whereas the TD adolescents used protagonist characteristics, behaviours, and outcomes. In Experiment 2, TD adolescents used characteristics information when making « bad » judgements. Taken together, in situations in which participants cannot go back and assess (Experiment 1), and in comparable situations in which all information is available (Experiment 2), adolescents with ASD do not rely on information about individual characteristics when making moral judgements.
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7. Mansour S, Rozenblat V, Fuller-Tyszkiewicz M, Paganini C, Treasure J, Krug I. {{Emotions mediate the relationship between autistic traits and disordered eating: A new autistic-emotional model for eating pathology}}. {Psychiatry Res};2016 (Nov 30);245:119-126.
The aim of the study was to assess the extent of overlap between autistic traits, body dissatisfaction and disordered eating and to explore the mediating effects of negative attitudes towards emotional expression and emotion dysregulation. The sample comprised 416 university students (82% females, 17-48 years [M=19.76, SD=3.85]), who completed an online questionnaire assessing eating attitudes and behaviours (including dieting, bulimia and oral control), body dissatisfaction, and autistic traits (including the Autism Quotient [AQ] and its related subscales as well as the Empathising Quotient). Attitudes towards emotional expression and emotion regulation were also assessed. Results revealed that eating pathology correlated highly with all AQ subscales, with the exception of the attention to detail subscale. However, there was no significant relationship between empathising and eating pathology. Path-analyses indicated that emotion dysregulation, but not negative attitudes towards emotional expression, was a significant mediator of the relationship between AQ, body dissatisfaction and eating pathology. Direct relationships were also obtained for the AQ-bulimia and the AQ-oral control paths. Prevention and early intervention programs for eating pathology would likely benefit from addressing abnormalities in emotion processes in individuals who score highly on measures of autistic traits.
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8. Mayes SD, Calhoun SL, Waschbusch DA, Baweja R. {{Autism and reactive attachment/disinhibited social engagement disorders: Co-occurrence and differentiation}}. {Clin Child Psychol Psychiatry};2016 (Nov 28)
DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, 5th edition) Reactive Attachment Disorder (RAD) and Disinhibited Social Engagement Disorder (DSED) are rare disorders sharing social difficulties with autism. The DSM-5 and ICD-10 (International Classification of Diseases, 10th revsion) state that RAD/DSED should not be diagnosed in children with autism. The purpose of our study is to determine whether children can meet criteria for both autism and RAD/DSED and to identify specific symptoms discriminating the disorders. Subjects were 486 children with autism and no RAD/DSED and 20 with RAD/DSED, 4-17 years of age. In total, 13 children with RAD/DSED met criteria for autism. Using the Checklist for Autism Spectrum Disorder (CASD), there was no overlap in total scores between the RAD/DSED with autism group (score range = 15-27) versus the RAD/DSED without autism group (range = 7-10 ). The autism with and without RAD/DSED groups did not differ in CASD scores. Nine of the CASD autism symptoms were found only in the autism with and without RAD/DSED groups. Our study demonstrates that children can meet criteria for both autism and RAD/DSED and that the disorders are easily differentiated by the presence of specific autism symptoms. Autism is a neurogenetic disorder, and RAD/DSED results from severe social-emotional maltreatment. Given the different etiologies, there is no reason why a child cannot have both disorders.
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9. McCue LM, Flick LH, Twyman KA, Xian H, Conturo TE. {{Prevalence of non-febrile seizures in children with idiopathic autism spectrum disorder and their unaffected siblings: a retrospective cohort study}}. {BMC Neurol};2016 (Nov 28);16(1):245.
BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous disorder characterized not only by deficits in communication and social interactions but also a high rate of co-occurring disorders, including metabolic abnormalities, gastrointestinal and sleep disorders, and seizures. Seizures, when present, interfere with cognitive development and are associated with a higher mortality rate in the ASD population. METHODS: To determine the relative prevalence of non-febrile seizures in children with idiopathic ASD from multiplex and simplex families compared with the unaffected siblings in a cohort of 610 children with idiopathic ASD and their 160 unaffected siblings, participating in the Autism Genetic Resource Exchange project, the secondary analysis was performed comparing the life-time prevalence of non-febrile seizures. Statistical models to account for non-independence of observations, inherent with the data from multiplex families, were used in assessing potential confounding effects of age, gender, and history of febrile seizures on odds of having non-febrile seizures. RESULTS: The life-time prevalence of non-febrile seizures was 8.2% among children with ASD and 2.5% among their unaffected siblings. In a logistic regression analysis that adjusted for familial clustering, children with ASD had 5.27 (95%CI: 1.51-18.35) times higher odds of having non-febrile seizures compared to their unaffected siblings. In this comparison, age, presence of gastrointestinal dysfunction, and history of febrile seizures were significantly associated with the prevalence of non-febrile seizures. CONCLUSION: Children with idiopathic ASD are significantly more likely to have non-febrile seizures than their unaffected siblings, suggesting that non-febrile seizures may be ASD-specific. Further studies are needed to determine modifiable risk factors for non-febrile seizures in ASD.
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10. Mony TJ, Lee JW, Dreyfus C, DiCicco-Bloom E, Lee HJ. {{Valproic Acid Exposure during Early Postnatal Gliogenesis Leads to Autistic-like Behaviors in Rats}}. {Clin Psychopharmacol Neurosci};2016 (Nov 30);14(4):338-344.
Objective: We reported that postnatal exposure of rats to valproic acid (VPA) stimulated proliferation of glial precursors during cortical gliogenesis. However, there are no reports whether enhanced postnatal gliogenesis affects behaviors related to neuropsychiatric disorders. Methods: After VPA treatment during the postnatal day (PND) 2 to PND 4, four behavioral test, such as open field locomotor test, elevated plus maze test, three-chamber social interaction test, and passive avoidance test, were performed at PND 21 or 22. Results: VPA treated rats showed significant hyperactive behavior in the open field locomotor test (p<0.05). Moreover, the velocity of movement in the VPA group was increased by 69.5% (p<0.01). In the elevated plus maze test, VPA exposed rats expressed significantly lower percentage of time spent on and of entries into open arms more than the control group (p<0.05). Also, both sociability and social preference indices with strangers in the three-chamber social interaction test were significantly lower in the VPA exposed rats (p<0.05). Conclusion: Our results suggest that altered glial cell development is another locus at which pathogenetic factors can operate to contribute to the neurodevelopmental disorder. Lien vers le texte intégral (Open Access ou abonnement)
11. Pijper J, de Wied M, van Rijn S, van Goozen S, Swaab H, Meeus W. {{Callous unemotional traits, autism spectrum disorder symptoms and empathy in boys with oppositional defiant disorder or conduct disorder}}. {Psychiatry Res};2016 (Nov 30);245:340-345.
This study examined additive and interactive effects of callous unemotional (CU) traits and autism spectrum disorders (ASD) symptoms in relation to trait empathy, in boys with oppositional defiant disorder (ODD) or conduct disorder (CD). Participants were 49 boys with ODD/CD, aged between 7-12 years. Boys completed a questionnaire measure of empathic sadness and a broader questionnaire measure of affective and cognitive empathy. Parents and teachers reported on CU traits, and parents reported on ASD symptoms. In agreement with predictions, results reveal a negative association between CU traits and empathic sadness, particularly strong for ODD/CD boys with low levels of ASD symptoms. Results also reveal a negative association between ASD symptoms and cognitive empathy. Findings suggest that CU traits and ASD symptoms are associated with distinct empathy deficits with poor empathic sadness being more typical of CU traits than ASD symptoms.
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12. Ram Venkataraman G, O’Connell C, Egawa F, Kashef-Haghighi D, Wall DP. {{DE NOVO MUTATIONS IN AUTISM IMPLICATE THE SYNAPTIC ELIMINATION NETWORK}}. {Pac Symp Biocomput};2016;22:521-532.
Autism has been shown to have a major genetic risk component; the architecture of documented autism in families has been over and again shown to be passed down for generations. While inherited risk plays an important role in the autistic nature of children, de novo (germline) mutations have also been implicated in autism risk. Here we find that autism de novo variants verified and published in the literature are Bonferroni-significantly enriched in a gene set implicated in synaptic elimination. Additionally, several of the genes in this synaptic elimination set that were enriched in protein-protein interactions (CACNA1C, SHANK2, SYNGAP1, NLGN3, NRXN1, and PTEN) have been previously confirmed as genes that confer risk for the disorder. The results demonstrate that autism-associated de novos are linked to proper synaptic pruning and density, hinting at the etiology of autism and suggesting pathophysiology for downstream correction and treatment.
13. Shephard E, Milosavljevic B, Pasco G, Jones EJ, Gliga T, Happe F, Johnson MH, Charman T. {{Mid-childhood outcomes of infant siblings at familial high-risk of autism spectrum disorder}}. {Autism Res};2016 (Nov 29)
Almost one-in-five infants at high familial risk for autism spectrum disorder (ASD), due to having an older sibling with an ASD diagnosis, develop ASD themselves by age 3 years. Less is known about the longer-term outcomes of high-risk infants. To address this issue, we examined symptoms of ASD and associated developmental conditions (attention-deficit/hyperactivity disorder (ADHD); anxiety), language, IQ, and adaptive behaviour at age 7 years in high- and low-risk children studied from infancy. We compared outcomes between high-risk children who met criteria for ASD at age 7, high-risk children without ASD, and low-risk control children. Diagnostic stability between 3 and 7 years was moderate. High-risk siblings with ASD showed elevated levels of ADHD and anxiety symptoms and lower adaptive behaviour than low-risk control children. High-risk siblings without ASD had higher repetitive behaviours, lower adaptive functioning, and elevated scores on one anxiety subscale (Separation Anxiety) compared to low-risk controls. The findings indicate that the difficulties experienced by high-risk siblings at school age extend beyond ASD symptoms. Better understanding of these difficulties may improve models of the development of co-occurring problems seen in children with ASD. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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14. Simms MD. {{When Autistic Behavior Suggests a Disease Other than Classic Autism}}. {Pediatr Clin North Am};2017 (Feb);64(1):127-138.
Most neurodevelopmental disorders are defined by their clinical symptoms and many disorders share common features. Recently there has been an increase in the number of children diagnosed with autism spectrum disorder, although concerns have been raised about the accuracy of the reported prevalence rates. This article reviews the essential features of autism spectrum disorder and describes other conditions that may include similar symptoms that may be misdiagnosed as autism spectrum disorder (primary communication disorders, anxiety disorders, attachment disorders, intellectual disability, vision and hearing impairment, and normal variations). An approach to differential diagnosis is discussed with particular attention to evaluation of young children.
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15. Trevisan DA, Bowering M, Birmingham E. {{Alexithymia, but not autism spectrum disorder, may be related to the production of emotional facial expressions}}. {Mol Autism};2016;7:46.
BACKGROUND: A prominent diagnostic criterion of autism spectrum disorder (ASD) relates to the abnormal or diminished use of facial expressions. Yet little is known about the mechanisms that contribute to this feature of ASD. METHODS: We showed children with and without ASD emotionally charged video clips in order to parse out individual differences in spontaneous production of facial expressions using automated facial expression analysis software. RESULTS: Using hierarchical multiple regression, we sought to determine whether alexithymia (characterized by difficulties interpreting one’s own feeling states) contributes to diminished facial expression production. Across groups, alexithymic traits-but not ASD traits, IQ, or sex-were associated with quantity of facial expression production. CONCLUSIONS: These results accord with a growing body of research suggesting that many emotion processing abnormalities observed in ASD may be explained by co-occurring alexithymia. Developmental and clinical considerations are discussed, and it is argued that alexithymia is an important but too often ignored trait associated with ASD that may have implications for subtyping individuals on the autism spectrum.
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16. Vershkov D, Benvenisty N. {{Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome}}. {Regen Med};2016 (Nov 30)
Human pluripotent stem cells (PSCs) generated from affected blastocysts or from patient-derived somatic cells are an emerging platform for disease modeling and drug discovery. Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, was one of the first disorders modeled in both embryonic stem cells and induced PCSs and can serve as an exemplary case for the utilization of human PSCs in the study of human diseases. Over the past decade, FXS-PSCs have been used to address the fundamental questions regarding the pathophysiology of FXS. In this review we summarize the methodologies for generation of FXS-PSCs, discuss their advantages and disadvantages compared with existing modeling systems and describe their utilization in the study of FXS pathogenesis and in the development of targeted treatment.
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17. Vinkhuyzen AA, Eyles DW, Burne TH, Blanken LM, Kruithof CJ, Verhulst F, Jaddoe VW, Tiemeier H, McGrath JJ. {{Gestational vitamin D deficiency and autism-related traits: the Generation R Study}}. {Mol Psychiatry};2016 (Nov 29)
There is intense interest in identifying modifiable risk factors associated with autism-spectrum disorders (ASD). Autism-related traits, which can be assessed in a continuous fashion, share risk factors with ASD, and thus can serve as informative phenotypes in population-based cohort studies. Based on the growing body of research linking gestational vitamin D deficiency with altered brain development, this common exposure is a candidate modifiable risk factor for ASD and autism-related traits. The association between gestational vitamin D deficiency and a continuous measure of autism-related traits at ~6 years (Social Responsiveness Scale; SRS) was determined in a large population-based cohort of mothers and their children (n=4229). 25-hydroxyvitamin D (25OHD) was assessed from maternal mid-gestation sera and from neonatal sera (collected from cord blood). Vitamin D deficiency was defined as 25OHD concentrations less than 25 nmol l-1. Compared with the 25OHD sufficient group (25OHD>50 nmol l-1), those who were 25OHD deficient had significantly higher (more abnormal) SRS scores (mid-gestation n=2866, beta=0.06, P<0.001; cord blood n=1712, beta=0.03, P=0.01). The findings persisted (a) when we restricted the models to offspring with European ancestry, (b) when we adjusted for sample structure using genetic data, (c) when 25OHD was entered as a continuous measure in the models and (d) when we corrected for the effect of season of blood sampling. Gestational vitamin D deficiency was associated with autism-related traits in a large population-based sample. Because gestational vitamin D deficiency is readily preventable with safe, cheap and accessible supplements, this candidate risk factor warrants closer scrutiny.Molecular Psychiatry advance online publication, 29 November 2016; doi:10.1038/mp.2016.213. Lien vers le texte intégral (Open Access ou abonnement)
18. Wei H, Sun S, Li Y, Yu S. {{Reduced plasma levels of microtubule-associated STOP/MAP6 protein in autistic patients}}. {Psychiatry Res};2016 (Nov 30);245:116-118.
Autism is a neurodevelopmental disorder characterized by abnormal reciprocal social interactions, communication deficits and repetitive behaviors with restricted interests. A previous quantitative proteomic profiling study demonstrated that microtubule-associated stable tubule only polypeptide (STOP; also known as MAP6) protein was significant reduced in the cerebral cortex from BTBR mouse model of autism compared to the C57BL/6J mice. In the present study, the result showed that the concentration of STOP/MAP6 protein was significantly reduced in the plasma of autistic subjects than that in healthy controls. Finally, a possible mechanism of STOP/MAP6 protein in the pathogenesis of autism was proposed.
