1. Baghdadli A, Brisot J, Henry V, Michelon C, Soussana M, Rattaz C, Picot MC. {{Social skills improvement in children with high-functioning autism: a pilot randomized controlled trial}}. {Eur Child Adolesc Psychiatry};2013 (Feb 16)
High-functioning autism (HFA) is characterized by persistent impairment in social interaction despite the absence of mental retardation. Although an increasing number of group-based programs for the improvement of social skills have been described, randomized controlled trials are needed to evaluate their efficacy. To compare the effect of a Social Skills Training Group-based Program (SST-GP) and a Leisure Activities Group-based Program (LA-GP) on the perception of facial emotions and quality of life (QoL) in young people with HFA. Eligible patients were children and adolescents with HFA. Participants were randomized to the SST or LA group. The primary outcome was defined as an improvement of 2 points in error rates for facial emotion labeling (DANVA2) from baseline. After the 6-month training period, the SST Group made fewer errors in labeling anger on adult faces, whereas error rates in the LA Group remained stable. Progress in the ability to recognize anger in the SST Group was due to better recognition of low intensity stimuli on adult faces. QoL increased in the SST Group in the dimension of school environment, as a marker of the transfer of skills acquired in the treatment setting to their use in the community. The SST-GP had higher efficacy than the LA-GP. Data justify replication using larger samples.
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2. Bao X, Downs J, Wong K, Williams S, Leonard H. {{Using a large international sample to investigate epilepsy in Rett syndrome}}. {Dev Med Child Neurol};2013 (Feb 19)
AIM: The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype. METHOD: Information on 685 females with RTT recruited to the international Rett syndrome database (InterRett) with a pathogenic MECP2 mutation was obtained from family and clinician questionnaires. Individuals with RTT were aged 1 year 4 months to 54 years 2 months (mean 11y 1mo; SD 9y 4mo). RESULTS: Among them, 61% had epilepsy, with half diagnosed by the age of 5 years. Those with a large deletion had the earliest median age at epilepsy onset and those with p.R133C the latest age at onset. The highest rate of active epilepsy (54%) was in those aged 12 to 17 years. Compared with those with a p.R133C mutation, active seizures were more likely to be reported in those with a large deletion (odds ratio 3.71; 95% confidence interval 1.13-12.17) or p.T158M (odds ratio 2.92; 95% confidence interval 1.04-8.20). Commonly used medicines included valproate (47%), carbamazepine (39%), lamotrigine (30%), levetiracetam (24%), and topiramate (19%). INTERPRETATION: Genotype influences the age at onset and severity of epilepsy in RTT. Large sample sizes as available through InterRett assist in understanding the complexity of epilepsy in RTT in relation to genotype.
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3. Clarke A. {{How much further can large international databases take Rett syndrome research?}}. {Dev Med Child Neurol};2013 (Feb 19)
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4. Daprati E, Nico D, Delorme R, Leboyer M, Zalla T. {{Memory for past events: movement and action chains in high-functioning autism spectrum disorders}}. {Exp Brain Res};2013 (Feb 16)
In the present study, we assessed whether individuals with autism spectrum disorders (ASD) show memory impairments for previously performed actions, as previously suggested for people suffering from obsessive-compulsive disorder (OCD) (Ecker and Engelkamp in Behav Cogn Psychother 23:349-371, 1995; Merckelbach and Wessel in J Nerv Ment Dis 188(12):846-848, 2000). To test this possibility, we explored verbal memory for actions in individuals with a diagnosis of ASD, with and without co-morbidity for OCD, and in controls matched for age and gender. Participants observed or observed and enacted a number of actions while listening to the corresponding phrases being spoken. After a suitable delay, they were submitted to an old/new recognition task. Results showed that ASD individuals with OCD were less accurate and slower in responding compared to ASD individuals without OCD and controls, particularly when dealing with phrases describing simple movements. In contrast, ASD participants without OCD were more impaired when phrases described complex actions that involved pantomiming object use or coordinating movements of multiple body parts. These findings are discussed in terms of differential organization of the motor trace for simple versus complex actions in ASD individuals according to the concurrent presence of OCD.
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5. Gadow KD. {{Association of schizophrenia spectrum and autism spectrum disorder (ASD) symptoms in children with ASD and clinic controls}}. {Res Dev Disabil};2013 (Feb 14);34(4):1289-1299.
OBJECTIVE: This study examines relations between the severity of specific symptoms of schizophrenia spectrum disorder (SSD) and severity of the three defining symptom domains of autism spectrum disorder (ASD) in children with ASD (N=147) and child psychiatry outpatient referrals (Controls; N=339). METHOD: Participants were subdivided into four groups depending on ASD status (+/-) and whether they met symptom criteria for attention-deficit/hyperactivity disorder (+/-ADHD). Their mothers and teachers evaluated them with a DSM-IV-referenced rating scale. RESULTS: Correlations between schizoid personality symptoms and ASD social skills deficits were moderate to large, and this was true for children with ASD and Controls, regardless of ADHD status, and for mother’s and teachers’ ratings. Conversely, severity of hallucinations, delusions, and disorganized thinking were minimally correlated with ASD severity with the exception of Controls with ADHD. The disorganized behavior and negative symptoms of schizophrenia evidenced the strongest pattern of associations with ASD symptoms, and this was particularly true for children with co-morbid ADHD (+/-ASD, all three ASD symptom dimensions), and for teachers’ ratings of all four groups. Nevertheless, there was considerable variability in relations for specific symptoms across informants and groups. Correlations between SSD symptom severity and IQ were generally low, particularly among the ASD Only group and for all teacher-rated symptoms. CONCLUSION: Associations between ASD and SSD symptoms were often dimension-specific, and this was particularly evident in children without ADHD (+/-ASD; mothers’ ratings). Findings were interpreted as supporting the deconstruction of complex clinical phenotypes as a means of better understanding interrelations among psychiatric syndromes.
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6. Gephart EF, Loman DG. {{Use of prevention and prevention plus weight management guidelines for youth with developmental disabilities living in group homes}}. {J Pediatr Health Care};2013 (Mar);27(2):98-108.
INTRODUCTION: Prevention and Prevention Plus strategies for weight management were implemented for youth with developmental disabilities living in community group homes at a Midwestern educational/residential center. METHODS: Caregiver staff were provided with weight management education, a communication tool for youth weight indices, weight and physical activity goals, dietary orders, and monthly follow-up communication. This 4-month study examined changes in weight indices, nutrition, physical activity, and staff perceptions of youth status using t tests, chi(2) tests, and Wilcoxon signed-rank tests. RESULTS: A significant decrease in mean body mass index percentile was found (t(39) = 2.93, p < .01, 95% confidence interval 1.29 to 7.04) that was primarily from change in the healthy weight category. More than 80% of the 40 youth achieved their weight goal. A significant improvement in daily fruit consumption ( p = .001) and vegetable consumption ( p < .001) was reported. DISCUSSION: These prevention strategies are useful to promote staff understanding of dietary goals for weight management in youth with developmental disabilities living in group homes and should be incorporated into practice by health care providers. Additional efforts are needed to increase physical activity during the winter months.
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7. Gilby KL, O’Brien TJ. {{Epilepsy, autism, and neurodevelopment: Kindling a shared vulnerability?}}. {Epilepsy Behav};2013 (Feb 13)
Epilepsy and autism spectrum disorder (ASD) share many primary and comorbid symptoms. The degree of clinical overlap is believed to signify a ‘spectrum of vulnerability’ that arises out of an early common dysfunction in central nervous system development. However, research into the underlying, and potentially shared, etiopathological mechanisms is challenging given the extensive comorbidity profiles. Adding to the degree of difficulty is the frequently evolving recompartmentalization of diagnostic criteria within each disorder. This review discusses potential preclinical strategies that, through the use of animal models, are designed to gain insight into the biological basis of the overlap between epilepsy and autism and to foster a rapid clinical translation of the insights gained. This article is part of a Special Issue entitled Translational Epilepsy Research.
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8. Grossman M, Peskin J, San Juan V. {{Thinking About a Reader’s Mind: Fostering Communicative Clarity in the Compositions of Youth with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Feb 17)
A critical component of effective communication is the ability to consider the knowledge state of one’s audience, yet individuals with autism spectrum disorders (ASD) have difficulty representing the mental states of others. In the present study, youth with high-functioning ASD were trained to consider their reader’s knowledge states in their compositions using a novel computer-based task. After two training trials, participants who received visual feedback from a confederate demonstrated significantly greater communicative clarity on the training measure compared to a control group. The improvements from training transferred to similar and very different tasks, and were maintained approximately 6 weeks post-intervention. These results provide support for the sustained efficacy of a rapid and motivating communication intervention for youth with high-functioning ASD.
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9. Higashimori H, Morel L, Huth J, Lindemann L, Dulla C, Taylor A, Freeman M, Yang Y. {{Astroglial FMRP-dependent translational down-regulation of mGluR5 underlies glutamate transporter GLT1 dysregulation in the fragile X mouse}}. {Hum Mol Genet};2013 (Feb 19)
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the loss-of-function of fragile X mental retardation protein (FMRP). The loss of FMRP function in neurons abolishes its suppression on mGluR1/5-dependent dendritic protein translation, enhancing mGluR1/5-dependent synaptic plasticity and other disease phenotypes in FXS. In this study, we describe a new activation function of FMRP in regulating protein expression in astroglial cells. We found that astroglial glutamate transporter subtype glutamate transporter 1 (GLT1) and glutamate uptake is significantly reduced in the cortex of fmr1(-/-) mice. Correspondingly, neuronal excitability is also enhanced in acute fmr1(-/-) (but not in fmr1(+/+) control) cortical slices treated with low doses (10 mum) of the GLT1-specific inhibitor dihydrokainate (DHK). Using mismatched astrocyte and neuron co-cultures, we demonstrate that the loss of astroglial (but not neuronal) FMRP particularly reduces neuron-dependent GLT1 expression and glutamate uptake in co-cultures. Interestingly, protein (but not mRNA) expression and the (S)-3,5-dihydroxyphenylglycine-dependent Ca(2+) responses of astroglial mGluR5 receptor are also selectively reduced in fmr1(-/-) astrocytes and brain slices, attenuating neuron-dependent GLT1 expression. Subsequent FMRP immunoprecipitation and QRT-PCR analysis showed that astroglial mGluR5 (but not GLT1) mRNA is associated with FMRP. In summary, our results provide evidence that FMRP positively regulates translational expression of mGluR5 in astroglial cells, and FMRP-dependent down-regulation of mGluR5 underlies GLT1 dysregulation in fmr1(-/-) astrocytes. The dysregulation of GLT1 and reduced glutamate uptake may potentially contribute to enhanced neuronal excitability observed in the mouse model of FXS.
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10. Inagaki M, Hayashi T. {{An important message for parents of children with developmental disabilities who have encountered unprecedented disaster}}. {Brain Dev};2013 (Mar);35(3):193-194.
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11. James SJ, Shpyleva S, Melnyk S, Pavliv O, Pogribny IP. {{Complex epigenetic regulation of Engrailed-2 (EN-2) homeobox gene in the autism cerebellum}}. {Transl Psychiatry};2013;3:e232.
The elucidation of epigenetic alterations in the autism brain has potential to provide new insights into the molecular mechanisms underlying abnormal gene expression in this disorder. Given strong evidence that engrailed-2 (EN-2) is a developmentally expressed gene relevant to cerebellar abnormalities and autism, the epigenetic evaluation of this candidate gene was undertaken in 26 case and control post-mortem cerebellar samples. Assessments included global DNA methylation, EN-2 promoter methylation, EN-2 gene expression and EN-2 protein levels. Chromatin immunoprecipitation was used to evaluate trimethylation status of histone H3 lysine 27 (H3K27) associated with gene downregulation and histone H3 lysine 4 (H3K4) associated with gene activation. The results revealed an unusual pattern of global and EN-2 promoter region DNA hypermethylation accompanied by significant increases in EN-2 gene expression and protein levels. Consistent with EN-2 overexpression, histone H3K27 trimethylation mark in the EN-2 promoter was significantly decreased in the autism samples relative to matched controls. Supporting a link between reduced histone H3K27 trimethylation and increased EN-2 gene expression, the mean level of histone H3K4 trimethylation was elevated in the autism cerebellar samples. Together, these results suggest that the normal EN-2 downregulation that signals Purkinje cell maturation during late prenatal and early-postnatal development may not have occurred in some individuals with autism and that the postnatal persistence of EN-2 overexpression may contribute to autism cerebellar abnormalities.
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12. Kikuchi M, Yoshimura Y, Shitamichi K, Ueno S, Hiraishi H, Munesue T, Hirosawa T, Ono Y, Tsubokawa T, Inoue Y, Oi M, Niida Y, Remijn GB, Takahashi T, Suzuki M, Higashida H, Minabe Y. {{Anterior prefrontal hemodynamic connectivity in conscious 3- to 7-year-old children with typical development and autism spectrum disorder}}. {PLoS One};2013;8(2):e56087.
Socio-communicative impairments are salient features of autism spectrum disorder (ASD) from a young age. The anterior prefrontal cortex (aPFC), or Brodmann area 10, is a key processing area for social function, and atypical development of this area is thought to play a role in the social deficits in ASD. It is important to understand these brain functions in developing children with ASD. However, these brain functions have not yet been well described under conscious conditions in young children with ASD. In the present study, we focused on the brain hemodynamic functional connectivity between the right and the left aPFC in children with ASD and typically developing (TD) children and investigated whether there was a correlation between this connectivity and social ability. Brain hemodynamic fluctuations were measured non-invasively by near-infrared spectroscopy (NIRS) in 3- to 7-year-old children with ASD (n = 15) and gender- and age-matched TD children (n = 15). The functional connectivity between the right and the left aPFC was assessed by measuring the coherence for low-frequency spontaneous fluctuations (0.01 – 0.10 Hz) during a narrated picture-card show. Coherence analysis demonstrated that children with ASD had a significantly higher inter-hemispheric connectivity with 0.02-Hz fluctuations, whereas a power analysis did not demonstrate significant differences between the two groups in terms of low frequency fluctuations (0.01 – 0.10 Hz). This aberrant higher connectivity in children with ASD was positively correlated with the severity of social deficit, as scored with the Autism Diagnostic Observation Schedule. This is the first study to demonstrate aberrant brain functional connectivity between the right and the left aPFC under conscious conditions in young children with ASD.
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13. Latham K, Chung ST, Allen PM, Tavassoli T, Baron-Cohen S. {{Spatial localisation in autism: evidence for differences in early cortical visual processing}}. {Mol Autism};2013 (Feb 19);4(1):4.
ABSTRACT: BACKGROUND: Vision in people with autism spectrum conditions (ASC) is reported to be different from people without ASC, but the neural level at which the differences begin to occur is not yet known. Here we examine two variants of a vernier acuity task to determine if differences are evident in early visual processing. FINDINGS: Abutting and separated vernier acuity was assessed in 16 people with ASC and 14 matched controls. In controls, abutting and separated thresholds were unrelated (r = 0.13, p = 0.65), suggesting thresholds are determined by two separate mechanisms. In contrast, the abutting and separated thresholds of ASC observers were strongly correlated (r = 0.88, p < 0.0001), with separated thresholds tending towards being superior to those of controls [t(28) = -2.46, p = 0.02]. CONCLUSIONS: The findings suggest the mechanisms employed by ASC observers in separated vernier tasks are different to those of controls. This psychophysical evidence suggests that visual differences in ASC may begin at an early cortical stage of visual processing.
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14. Limoges E, Bolduc C, Berthiaume C, Mottron L, Godbout R. {{Relationship between poor sleep and daytime cognitive performance in young adults with autism}}. {Res Dev Disabil};2013 (Feb 14);34(4):1322-1335.
Poor sleep is a common feature in autism even though patients themselves do not necessarily complain. The impact of poor sleep on daytime cognitive functioning in autism is not well-known and we therefore investigated whether sleep in autism correlates with daytime cognitive performance. A battery of non-verbal tasks was administered, in the morning after a second night of sleep in the laboratory, to 17 young adults with autism and normal intelligence, and 14 typically developed individuals matched for age and IQ; none of the participants complained about sleep problems. Two dimensions of attention (sustained and selective) and 4 types of memory (working, declarative, sensory-motor and cognitive procedural) were tested. Individuals with autism showed clear signs of poor sleep. Their performance differed from the controls in response speed but not in accuracy. Signs of poor sleep in the autism group were significantly correlated with either normal performance (selective attention and declarative memory) or performance inferior to that of the controls (sensory-motor and cognitive procedural memories). Both groups presented a significant negative correlation between slow-wave sleep (SWS) and learning a sensory-motor procedural memory task. Only control participants showed a positive association between SWS duration and number of figures recalled on the declarative memory task. Correlation patterns differed between groups when sleep spindles were considered: they were negatively associated with number of trials needed to learn the sensory-motor procedural memory task in autism and with reaction time and number of errors on selective attention in the controls. Correlation between rapid eye movements (REMs) in REM sleep and cognitive procedural memory was not significant. We conclude that some signs reflecting the presence of poor sleep in adults with high-functioning autism correlate with various aspects of motor output on non-verbal performance tasks. The question is raised whether poor sleep in non-complaining persons with autism should be treated.
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15. Parma V, Bulgheroni M, Tirindelli R, Castiello U. {{Body Odors Promote Automatic Imitation in Autism}}. {Biol Psychiatry};2013 (Feb 13)
BACKGROUND: Autism spectrum disorders comprise a range of neurodevelopmental pathologies characterized, among other symptoms, by impaired social interactions. Individuals with this diagnosis are reported to often identify people by repetitively sniffing pieces of clothing or the body odor of family members. Since body odors are known to initiate and mediate many different social behaviors, smelling the body odor of a family member might constitute a sensory-based action promoting social contact. In light of this, we hypothesized that the body odor of a family member would facilitate the appearance of automatic imitation, an essential social skill known to be impaired in autism. METHODS: We recruited 20 autistic and 20 typically developing children. Body odors were collected from the children’s mothers’ axillae. A child observed a model (their mother or a stranger mother) execute (or not) a reach-to-grasp action toward an object. Subsequently, she performed the same action. The object was imbued with the child’s mother’s odor, a stranger mother’s odor, or no odor. The actions were videotaped, and movement time was calculated post hoc via a digitalization technique. RESULTS: Automatic imitation effects-expressed in terms of total movement time reduction-appear in autistic children only when exposed to objects paired with their own mother’s odor. CONCLUSIONS: The maternal odor, which conveys a social message otherwise neglected, helps autistic children to covertly imitate the actions of others. Our results represent a starting point holding theoretical and practical relevance for the development of new strategies to enhance communication and social behavior among autistic individuals.
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16. Paulus FM, Kamp-Becker I, Krach S. {{Demands in reflecting about another’s motives and intentions modulate vicarious embarrassment in autism spectrum disorders}}. {Res Dev Disabil};2013 (Feb 14);34(4):1312-1321.
The affective responses to another person’s condition depend on the ability to reflect about another’s thoughts and intentions. This is relevant also for high-functioning individuals with ASD who have considerable difficulties in reading the intentions of others. With the present study we introduce a novel paradigm to induce vicarious embarrassment as a form of social pain. We predicted that the vicarious embarrassment experiences of high-functioning individuals with ASD should specifically decline in social contexts that require reflecting on another’s intentions. Thirty-two young adults with high-functioning ASD were matched with regards to age, gender, and verbal IQ to a control group. Vicarious embarrassment was examined with previously validated stimuli describing 30 situations that elicit vicarious embarrassment in the observer. The situations manipulated whether the displayed protagonist either accidentally or intentionally transgressed a social norm in public and participants rated their vicarious embarrassment from the observer’s perspective. The ASD group showed comparable vicarious embarrassment experience in response to observing another’s accidental norm transgressions but significantly reduced vicarious embarrassment when observing another who intentionally violated socials norms. Vicarious embarrassment was significantly correlated with trait empathy in the ASD group. In complex social scenarios individuals with ASD are impaired in reporting experience of vicarious embarrassment, primarily when it is required to reflect on another’s intentions. The present study thus contributes to a better understanding of how persons with ASD are affected in the diversity of empathic processes in the social, everyday life environment they are embedded in.
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17. Travers BG, Powell PS, Mussey JL, Klinger LG, Crisler ME, Klinger MR. {{Spatial and Identity Cues Differentially Affect Implicit Contextual Cueing in Adolescents and Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Feb 16)
The present studies examined implicit contextual cueing in adolescents and adults with Autism Spectrum Disorder (ASD). In Study 1, 16 individuals with ASD and 20 matched individuals with typical development completed a contextual cueing task using stimulus-identity cues. In Study 2, 12 individuals with ASD and 16 individuals with typical development completed a revised version of the contextual cueing task, using both stimulus-identity cues and global spatial-configuration cues. The results suggest that when only stimulus-identity cues were provided, individuals with ASD had difficulty with implicit contextual cueing (Study 1). However, when both stimulus-identity and spatial-configuration contextual cues were provided, individuals with ASD demonstrated successful contextual cueing (Study 2). Nuances in implicit learning and clinical implications are discussed.
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18. Zalla T, Labruyere N, Georgieff N. {{Perceiving Goals and Actions in Individuals with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Feb 19)
In the present study, we investigated the ability to parse familiar sequences of action into meaningful events in young individuals with autism spectrum disorders (ASDs), as compared to young individuals with typical development (TD) and young individuals with moderate mental retardation or learning disabilities (MLDs). While viewing two videotaped movies, participants were requested to detect the boundary transitions between component events at both fine and coarse levels of the action hierarchical structure. Overall, reduced accuracy for event detection was found in participants with ASDs, relative to participants with TD, at both levels of action segmentation. The performance was, however, equally diminished in participants with ASDs and MLDs under the course-grained segmentation suggesting that difficulties to detect fine-grained events in ASDs cannot be explained by a general intellectual dysfunction. Reduced accuracy for event detection was related to diminished event recall, memory for event sequence and Theory of Mind abilities. We hypothesized that difficulties with event detection result from a deficit disrupting the on-line processing of kinematic features and physical changes of dynamic human actions. An impairment at the earlier stages of the event encoding process might contribute to deficits in episodic memory and social functioning in individuals with ASDs.
