1. Bahrami F, Movahedi A, Marandi SM, Abedi A. {{Kata techniques training consistently decreases stereotypy in children with autism spectrum disorder}}. {Res Dev Disabil};2012 (Jul);33(4):1183-1193.
The effects of 14 weeks of Kata techniques training on stereotypic behaviors of children with autism spectrum disorders (ASD) were investigated. The study included 30 eligible (diagnosed ASD, school age) children with ages ranging from 5 to 16 years whom they assigned to an exercise (n=15) or a no-exercise control group (n=15). Participants of the exercise group received Kata techniques instruction four times per week for 14 weeks (56 sessions). Stereotypy was assessed at baseline (pre-intervention), week 14 (post-intervention), and at one month follow up in both groups. Results showed that Kata techniques training significantly reduced stereotypy in the exercise group. Following participation in Kata techniques training, stereotypy decreased from baseline levels by a M of 42.54% across participants. Interestingly, after 30 days of no practice, stereotypy in the exercise group remained significantly decreased compared to pre-intervention time. The participants of the control group did not show significant changes in the stereotypy. Teaching martial arts techniques to children with ASD for a long period of time consistently decreased their stereotypic behaviors.
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2. Bhattacharya A, Klann E. {{Fragile X Syndrome Therapeutics S(C)TEP through the Developmental Window}}. {Neuron};2012 (Apr 12);74(1):1-3.
Treatment for fragile X syndrome and related autism spectrum disorders has long been thought to be effective only during a narrow window early in development. In this issue of Neuron, Michalon et al. (2012) dispel this myth.
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3. Camacho-Garcia RJ, Planelles MI, Margalef M, Pecero ML, Martinez-Leal R, Aguilera F, Vilella E, Martinez-Mir A, Scholl FG. {{Mutations affecting synaptic levels of neurexin-1beta in autism and mental retardation}}. {Neurobiol Dis};2012 (Apr 3)
The identification of mutations in genes encoding proteins of the synaptic neurexin-neuroligin pathway in different neurodevelopmental disorders, including autism and mental retardation, has suggested the presence of a shared underlying mechanism. A few mutations have been described so far and for most of them the biological consequences are unknown. To further explore the role of the NRXN1beta gene in neurodevelopmental disorders, we have sequenced the coding exons of the gene in 86 cases with autism and mental retardation and 200 controls and performed expression analysis of DNA variants identified in patients. We report the identification of four novel independent mutations that affect nearby positions in two regions of the gene/protein: i) sequences important for protein translation initiation, c.-3G>T within the Kozak sequence, and c.+3G>T (p.Met1), at the initiation codon; and ii) the juxtamembrane region of the extracellular domain, p.Arg375Gln and p.Gly378Ser. These mutations cosegregate with different psychiatric disorders other than autism and mental retardation, such as psychosis and attention-deficit/hyperactivity disorder. We provide experimental evidence for the use of an alternative translation initiation codon for c.-3G>T and p.Met1 mutations and reduced synaptic levels of neurexin-1beta protein resulting from p.Met1 and p.Arg375Gln. The data reported here support a role for synaptic defects of neurexin-1beta in neurodevelopmental disorders.
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4. Edwards DJ, Perlman A, Reed P. {{Unsupervised Categorization in a sample of children with autism spectrum disorders}}. {Res Dev Disabil};2012 (Jul);33(4):1264-1269.
Studies of supervised Categorization have demonstrated limited Categorization performance in participants with autism spectrum disorders (ASD), however little research has been conducted regarding unsupervised Categorization in this population. This study explored unsupervised Categorization using two stimulus sets that differed in their difficulty of Categorization according to the simplicity model. ASD participants displayed a greater tendency to categorise according to one dimension as compared with mental-aged matched participants in the easily categorised sets, but both ASD and Control groups became more prone to one-dimensional sorting as the difficulty of the Categorization task increased. These results are discussed in terms of the processes underlying over-selective responding.
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5. Esposito G, Nakazawa J, Venuti P, Bornstein MH. {{Perceptions of distress in young children with autism compared to typically developing children: A cultural comparison between Japan and Italy}}. {Res Dev Disabil};2012 (Jul);33(4):1059-1067.
This study investigates how adults in two contrasting cultures (Italian and Japanese) perceive episodes of crying of typically developing (TD) children and children with Autism Disorder (AD). Although cries of children with AD have been reported to elicit more distress in Western cultures, it is not known whether similar findings hold in Eastern cultures. In Experiment 1, we artificially modified structural parameters (fundamental frequency, duration of pauses, waveform modulation) of cries and asked Italian and Japanese adults to judge levels of expressed and felt distress in the cries. In Experiment 2, we asked Italian and Japanese adults to report these levels of distress on hearing cries of AD and TD children. In both cultures, cries with higher fundamental frequency and shorter pause durations were judged more distressing and distressed and observers perceived cries of children with AD as more distressing and distressed than cries of TD children. The similar responses in adults from two contrasting societies constitute evidence that reactions to cries of children with AD might be universal.
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6. Gadow KD, Drabick DA. {{Symptoms of autism and schizophrenia spectrum disorders in clinically referred youth with oppositional defiant disorder}}. {Res Dev Disabil};2012 (Jul);33(4):1157-1168.
Examined autism spectrum disorder (ASD) and schizophrenia spectrum disorder (SSD) symptoms in a clinically referred, non-ASD sample (N=1160; ages 6-18) with and without oppositional defiant disorder (ODD). Mothers and teachers completed DSM-IV-referenced symptom checklists. Youth with ODD were subdivided into angry/irritable symptom (AIS) or noncompliant symptom (NS) subtypes. Two different classification strategies were used: within-informant (source-specific) and between-informant (source-exclusive). For the source-specific strategy, youth were classified AIS, NS, or Control (C) according to mothers’ and teachers’ ratings separately. A second set of analyses focused on youth classified AIS according to mother or teacher report but not both (source-exclusive) versus both mother and teacher (cross-informant) AIS. Results indicated the mother-defined source-specific AIS groups generally evidenced the most severe ASD and SSD symptoms (AIS>NS>C), but this was more pronounced among younger youth. Teacher-defined source-specific ODD groups exhibited comparable levels of symptom severity (AIS, NS>C) with the exception of SSD (AIS>NS>C; younger youth). Source-exclusive AIS groups were clearly differentiated from each other, but there was little evidence of differential symptom severity in cross-informant versus source-exclusive AIS. These findings were largely dependent on the informant used to define the source-exclusive groups. AIS and NS groups differed in their associations with ASD and SSD symptoms. Informant discrepancy provides valuable information that can inform nosological and clinical concerns and has important implications for studies that use different strategies to configure clinical phenotypes.
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7. Medeiros K, Kozlowski AM, Beighley JS, Rojahn J, Matson JL. {{The effects of developmental quotient and diagnostic criteria on challenging behaviors in toddlers with developmental disabilities}}. {Res Dev Disabil};2012 (Jul);33(4):1110-1116.
Previous research has found that individuals with intellectual disability and/or autism spectrum disorder (ASD), and those with greater symptom severity within these diagnoses, show higher rates of aggressive/destructive behavior, stereotypic behavior, and self-injurious behavior. In this exploratory cross-sectional study, toddlers at-risk for a developmental disorder (n=1509) ranging from 17 to 36 months fell into one of three diagnostic categories: Autistic Disorder, Pervasive Developmental Disorder-Not Otherwise Specified [PDD-NOS], and atypically developing – no ASD diagnosis. Mental health professionals from EarlySteps, Louisiana’s Early Intervention System, interviewed parents and guardians using the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) -Part 3 (Matson, Boisjoli, & Wilkins, 2007) to obtain measures of challenging behaviors and the Battelle Developmental Inventory, 2nd Edition (BDI-2) (Newborg, 2005) to obtain developmental quotients (DQ). Toddlers diagnosed with Autistic Disorder or PDD-NOS showed a positive relationship between total DQ and challenging behavior; whereas, atypically developing toddlers with no ASD diagnosis showed a more adaptive, negative relationship. The DQ domains that were most influential on challenging behaviors varied by diagnosis, with communication and motor domains playing greater roles for toddlers with Autistic Disorder or PDD-NOS, and personal-social and cognitive domains playing greater roles for atypically developing toddlers with no ASD diagnosis.
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8. Michalon A, Sidorov M, Ballard TM, Ozmen L, Spooren W, Wettstein JG, Jaeschke G, Bear MF, Lindemann L. {{Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice}}. {Neuron};2012 (Apr 12);74(1):49-56.
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. Previous studies have implicated mGlu5 in the pathogenesis of the disease, but a crucial unanswered question is whether pharmacological mGlu5 inhibition is able to reverse an already established FXS phenotype in mammals. Here we have used the novel, potent, and selective mGlu5 inhibitor CTEP to address this issue in the Fmr1 knockout mouse. Acute CTEP treatment corrects elevated hippocampal long-term depression, protein synthesis, and audiogenic seizures. Chronic treatment that inhibits mGlu5 within a receptor occupancy range of 81% +/- 4% rescues cognitive deficits, auditory hypersensitivity, aberrant dendritic spine density, overactive ERK and mTOR signaling, and partially corrects macroorchidism. This study shows that a comprehensive phenotype correction in FXS is possible with pharmacological intervention starting in young adulthood, after development of the phenotype. It is of great interest how these findings may translate into ongoing clinical research testing mGlu5 inhibitors in FXS patients.
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9. Nygren G, Sandberg E, Gillstedt F, Ekeroth G, Arvidsson T, Gillberg C. {{A new screening programme for autism in a general population of Swedish toddlers}}. {Res Dev Disabil};2012 (Jul);33(4):1200-1210.
The evidence from early intervention studies of autism has emphasised the need for early diagnosis. Insight into the early presentation of autism is crucial for early recognition, and routine screening can optimise the possibility for early diagnosis. General population screening was conducted for 2.5-year-old children at child health centres in Gothenburg, Sweden, and the efficacy of the screening instruments in predicting a clinical diagnosis of autism was studied. The tools used for autism screening comprised the Modified Checklist for Autism in Children (M-CHAT) and an observation made by trained nurses of the child’s joint attention abilities (JA-OBS). From the new screening procedure a « definitive » suspicion of autism spectrum disorder (ASD) was raised in 64 individuals in the study population of 3999 young children. Fifty-four of these were clinically assessed in detail. Forty-eight children had a confirmed diagnosis of ASD, three had severe language disorder, and three (6%) were classified as having typical development. The Positive predictive Value (PPV) for the combination of M-CHAT and the JA-OBS was 90%. The combination of instruments used showed promise for early detection of autism as a routine in the developmental programme at child health centres. Trained medical staff is a basic requirement and enables earlier detection and the use of screening tools beyond routine population screening regardless of the age at which a suspicion of autism is raised.
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10. Redcay E, Dodell-Feder D, Mavros PL, Kleiner M, Pearrow MJ, Triantafyllou C, Gabrieli JD, Saxe R. {{Atypical brain activation patterns during a face-to-face joint attention game in adults with autism spectrum disorder}}. {Hum Brain Mapp};2012 (Apr 16)
Joint attention behaviors include initiating one’s own and responding to another’s bid for joint attention to an object, person, or topic. Joint attention abilities in autism are pervasively atypical, correlate with development of language and social abilities, and discriminate children with autism from other developmental disorders. Despite the importance of these behaviors, the neural correlates of joint attention in individuals with autism remain unclear. This paucity of data is likely due to the inherent challenge of acquiring data during a real-time social interaction. We used a novel experimental set-up in which participants engaged with an experimenter in an interactive face-to-face joint attention game during fMRI data acquisition. Both initiating and responding to joint attention behaviors were examined as well as a solo attention (SA) control condition. Participants included adults with autism spectrum disorder (ASD) (n = 13), a mean age- and sex-matched neurotypical group (n = 14), and a separate group of neurotypical adults (n = 22). Significant differences were found between groups within social-cognitive brain regions, including dorsal medial prefrontal cortex (dMPFC) and right posterior superior temporal sulcus (pSTS), during the RJA as compared to SA conditions. Region-of-interest analyses revealed a lack of signal differentiation between joint attention and control conditions within left pSTS and dMPFC in individuals with ASD. Within the pSTS, this lack of differentiation was characterized by reduced activation during joint attention and relative hyper-activation during SA. These findings suggest a possible failure of developmental neural specialization within the STS and dMPFC to joint attention in ASD. Hum Brain Mapp, 2012. (c) 2012 Wiley Periodicals, Inc.
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11. Ronconi L, Gori S, Ruffino M, Molteni M, Facoetti A. {{Zoom-out attentional impairment in children with autism spectrum disorder}}. {Cortex};2012 (Mar 19)
Autism spectrum disorder (ASD) has long been associated with an inability to experience wholes without full attention to the constituent parts. A zoom-out attentional dysfunction might be partially responsible for this perceptual integration deficit in ASD. In the present study, the efficiency of attentional focusing mechanisms was investigated in children affected by ASD. We measured response latencies to a visual target onset displayed at three eccentricities from the fixation. Attentional resources were focused (zoom-in) or distributed (zoom-out) in the visual field presenting a small (containing only the nearest target eccentricity) or large (containing also the farthest target eccentricity) cue, 100 or 800 msec, before the target onset. Typically developing children, at the short cue-target interval, showed a gradient effect (i.e., latencies are slower at the farthest eccentricity) in the small focusing cue, but not in the large focusing cue condition. These results indicate an efficient zoom-in and zoom-out attentional mechanism. In contrast, children with ASD showed a gradient effect also in the large focusing cue condition, suggesting a specific zoom-out attentional impairment. In addition, the ASD group showed an atypical gradient effect at the long cue-target interval only in the small cue condition, suggesting a prolonged zoom-in and sluggish zoom-out attentional mechanism. This abnormal attentional focusing – probably linked to a dysfunctional top-down feedback from fronto-parietal network to the early visual areas – could contribute to the atypical visual perception associated to individuals with ASD which, in turn, could have consequences in their social-communicative development.
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12. Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O’Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, Leboyer M, Rastam M, Gillberg C, Lathrop M, Stavropoulos DJ, Anagnostou E, Weksberg R, Fombonne E, Zwaigenbaum L, Fernandez BA, Roberts W, Rappold GA, Marshall CR, Bourgeron T, Szatmari P, Scherer SW. {{SHANK1 Deletions in Males with Autism Spectrum Disorder}}. {Am J Hum Genet};2012 (Apr 12)
Recent studies have highlighted the involvement of rare (<1% frequency) copy-number variations and point mutations in the genetic etiology of autism spectrum disorder (ASD); these variants particularly affect genes involved in the neuronal synaptic complex. The SHANK gene family consists of three members (SHANK1, SHANK2, and SHANK3), which encode scaffolding proteins required for the proper formation and function of neuronal synapses. Although SHANK2 and SHANK3 mutations have been implicated in ASD and intellectual disability, the involvement of SHANK1 is unknown. Here, we assess microarray data from 1,158 Canadian and 456 European individuals with ASD to discover microdeletions at the SHANK1 locus on chromosome 19. We identify a hemizygous SHANK1 deletion that segregates in a four-generation family in which male carriers-but not female carriers-have ASD with higher functioning. A de novo SHANK1 deletion was also detected in an unrelated male individual with ASD with higher functioning, and no equivalent SHANK1 mutations were found in >15,000 controls (p = 0.009). The discovery of apparent reduced penetrance of ASD in females bearing inherited autosomal SHANK1 deletions provides a possible contributory model for the male gender bias in autism. The data are also informative for clinical-genetics interpretations of both inherited and sporadic forms of ASD involving SHANK1.
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13. Shih CH, Chang ML. {{A wireless object location detector enabling people with developmental disabilities to control environmental stimulation through simple occupational activities with Nintendo Wii Balance Boards}}. {Res Dev Disabil};2012 (Jul);33(4):983-989.
The latest researches have adopted software technology, turning the Nintendo Wii Balance Board into a high performance standing location detector with a newly developed standing location detection program (SLDP). This study extended SLDP functionality to assess whether two people with developmental disabilities would be able to actively perform simple occupational activities by controlling their favorite environmental stimulation using Nintendo Wii Balance Boards and SLDP software. An ABAB design was adopted in this study to perform the tests. The test results showed that, during the intervention phases, both participants significantly increased their target response (i.e. simple occupational activity) to activate the control system to produce environmental stimulation. The practical and developmental implications of the findings are discussed.
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14. Shih CH, Wang SH, Chang ML. {{Enabling people with developmental disabilities to actively perform designated occupational activities according to simple instructions with a Nintendo Wii Remote Controller by controlling environmental stimulation}}. {Res Dev Disabil};2012 (Jul);33(4):1194-1199.
The latest researches have adopted software technology, turning the Nintendo Wii Remote Controller into a high performance three-dimensional object orientation detector. This study extended Wii Remote Controller functionality to assess whether two people with developmental disabilities would be able to actively perform designated simple occupational activities according to simple instructions by controlling their favorite environmental stimulation using a Nintendo Wii Remote Controller. This study was conducted using ABAB designs. The data showed that both participants significantly increased their target response (performing a designated occupational activity) by activating the control system to produce their preferred environmental stimulation during the intervention phases.
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15. Zhang R, Jia MX, Zhang JS, Xu XJ, Shou XJ, Zhang XT, Li L, Li N, Han SP, Han JS. {{Transcutaneous electrical acupoint stimulation in children with autism and its impact on plasma levels of arginine-vasopressin and oxytocin: A prospective single-blinded controlled study}}. {Res Dev Disabil};2012 (Jul);33(4):1136-1146.
Acupuncture increases brain levels of arginine-vasopressin (AVP) and oxytocin (OXT), which are known to be involved in the modulation of mammalian social behavior. Transcutaneous electrical acupoint stimulation (TEAS) is often used clinically to produce a similar stimulation to that of acupuncture on the acupoints. In the present study, TEAS was applied to children with autism to assess its therapeutic efficacy. Seventy-six autistic children receiving rehabilitation training were divided into 2 groups: a treatment group receiving TEAS 30min per day, 5 days per week for 12 weeks (n=37) and a control group without TEAS treatment (n=39). A series of rating scales was used in outcome assessment. Plasma levels of AVP and OXT were determined by enzyme immunoassay (EIA) before and after treatment. The TEAS group showed a significant improvement over the control in their emotional response, fear or anxiety, level/consistency of intellective relations and general impressions on the Childhood Autism Rating Scale (CARS) as well as improvements in the sensory and related factors in the Autism Behavior Checklist (ABC). In addition, the varieties of accepted food increased after TEAS treatment. It appears that TEAS was effective in autistic children who showed passive and aloof behavior, but not in those who were active but odd. The plasma level of AVP was significantly higher in the TEAS group than in the control group after the intervention. In addition, the change in the plasma AVP level paralleled the improvement of some of the behavior factors in CARS, including adaptation to environmental change, listening response, perceptive response and fear or anxiety. It is concluded that TEAS is effective for the treatment of autistic children with a passive and aloof social interaction style. Changes in plasma levels of AVP and possibly OXT may be involved in mediating the therapeutic effect of TEAS.
