1. Al-Ayadhi LY, Mostafa GA. {{Elevated serum levels of interleukin-17A in children with autism}}. {J Neuroinflammation}. 2012; 9(1): 158.
ABSTRACT: BACKGROUND: The T-helper (Th)1/Th2 dichotomy dominated the field of immune regulation until interleukin (IL)-17-expressing T cells (Th17) were proposed to be a third lineage of helper T cells, the key players in the pathogenesis of autoimmune disorders. Autoimmunity to brain tissue may play a pathogenic role in autism. IL-17A is a pro-inflammatory cytokine that has been shown to play an important role in various autoimmune neuroinflammatory diseases. The aim of this study was to measure serum levels of IL-17A in relation to the degree of the severity of autism. METHODS: Serum IL-17A levels were measured by ELISA in 45 children with autism and 40 healthy matched healthy controls. RESULTS: Children with autism had significantly higher serum IL-17A levels than healthy controls (P <0.001), with increased serum levels of IL-17A found in 48.9% of the autism group. Patients with severe autism had significantly higher serum IL-17A levels than those with mild to moderate autism (P = 0.01), and raised serum IL-17A levels were significantly more common in children with severe autism (67.9%) than in those with mild to moderate autism (17.6%), P = 0.001. CONCLUSIONS: Serum IL-17A levels were raised in the group with autism, and the levels correlated significantly with the severity of autism. This is the first study to measure levels of IL-17A in relation to the severity of autism, to our knowledge. Further research, with a larger subject population, is warranted to determine whether the increase of serum IL-17A levels plasma has a pathogenic role in autism, and whether anti- IL-17A therapy could be useful.
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2. Allen R, Davis R, Hill E. {{The Effects of Autism and Alexithymia on Physiological and Verbal Responsiveness to Music}}. {J Autism Dev Disord}. 2012.
It has been suggested that individuals with autism will be less responsive to the emotional content of music than typical individuals. With the aim of testing this hypothesis, a group of high-functioning adults on the autism spectrum was compared with a group of matched controls on two measures of emotional responsiveness to music, comprising physiological and verbal measures. Impairment in participants ability to verbalize their emotions (type-II alexithymia) was also assessed. The groups did not differ significantly on physiological responsiveness, but the autism group was significantly lower on the verbal measure. However, inclusion of the alexithymia score as a mediator variable nullified this group difference, suggesting that the difference was due not to absence of underlying emotional responsiveness to music in autism, but to a reduced ability to articulate it.
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3. Angelidou A, Asadi S, Alysandratos KD, Karagkouni A, Kourembanas S, Theoharides TC. {{Perinatal stress, brain inflammation and risk of autism-Review and proposal}}. {BMC Pediatr}. 2012; 12(1): 89.
ABSTRACT: BACKGROUND: Autism Spectrum Disorders (ASD) are neurodevelopmental disorders characterized by varying deficits in social interactions, communication, and learning, as well as stereotypic behaviors. Despite the significant increase in ASD, there are few if any clues for its pathogenesis, hampering early detection or treatment. Premature babies are also more vulnerable to infections and inflammation leading to neurodevelopmental problems and higher risk of developing ASD. Many autism « susceptibility » genes have been identified, but « environmental » factors appear to play a significant role. Increasing evidence suggests that there are different ASD endophenotypes. DISCUSSION: We review relevant literature suggesting in utero inflammation can lead to preterm labor, while insufficient development of the gut-blood-brain barriers could permit exposure to potential neurotoxins. This risk apparently may increase in parents with « allergic » or autoimmune problems during gestation, or if they had been exposed to stressors. The presence of circulating auto-antibodies against fetal brain proteins in mothers is associated with higher risk of autism and suggests disruption of the blood-brain-barrier (BBB). A number of papers have reported increased brain expression or CSF levels of proinflammatory cytokines, especially TNF, which is preformed in mast cells. Recent evidence also indicates increased serum levels of the pro-inflammatory mast cell trigger neurotensin (NT), and of extracellular mitochondrial DNA (mtDNA), which is immunogenic. Mutations of the signal-transduction molecule mTOR and its negative regulator Pten have been linked to autism, but also with proliferation and function of mast cells. SUMMARY: Premature birth and susceptibility genes may make infants more vulnerable to allergic, environmental, infectious, or stress-related triggers that could stimulate mast cell release of pro-inflammatory and neurotoxic molecules, thus contributing to brain inflammation and ASD pathogenesis, at least in an endophenotype of ASD patients.
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4. Brenner RA, Taneja GS, Schroeder TJ, Trumble AC, Moyer PM, Louis GM. {{Unintentional injuries among youth with developmental disabilities in the United States, 2006-2007}}. {Int J Inj Contr Saf Promot}. 2012.
We examined unintentional injury among youth with and without developmental disabilities. Our nationally representative sample included 6369 injured youth, aged 0-17 years, who were seen in one of the 63 US hospital emergency rooms that participated in the National Electronic Injury Surveillance System – All Injury Program (NEISS-AIP) in 2006-2007. Parents or guardians of injured youth were interviewed by telephone after the hospital visit to ascertain disability status. Denominator data were obtained from the National Health Interview Survey. Leading causes of injury were comparable for youth with and without disability. Injury rates (per 100 youth per year) were also comparable [10.4; 95% confidence interval (CI) 7.8, 13.0 and 10.5; 95% CI 8.2, 12.9, for youth with and without disability, respectively]. When examined by specific disability, the rate ratio for youth with learning disabilities versus youth without learning disability was 1.57 (95% CI 1.04, 2.10), which may represent a subgroup for targeted interventions.
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5. Buitenhuis S, van Wijlen-Hempel RS, Pondaag W, Malessy MJ. {{Obstetric brachial plexus lesions and central developmental disability}}. {Early Hum Dev}. 2012.
AIMS: First, to assess whether children with an Obstetric Brachial Plexus Lesion (OBPL) have a higher incidence of Central Developmental Disability (CDD) compared to the general population. Second, to test the ability of General Movements (GMs) to identify CDD children already at three months of age. STUDY DESIGN: A prospective cohort study for infants referred to our tertiary nerve lesion clinic. SUBJECTS: A prospective cohort study of 38 infants with OBPL followed until 5years (mean age). OUTCOME: Measures quality of fidgety GMs at 3months; presence or absence of CDD at a mean age of 5years; severity of the brachial plexus lesion. RESULTS: Five patients (13%) had CDD: one patient had a cerebral palsy and four showed definite other motor and/or mental problems. There was no correlation between the quality of the GMs at three months and CDD. There was no correlation between the severity of the nerve lesion and CDD. We found a correlation between quality of the GMs and severity of the nerve lesion. CONCLUSION: Children with OBPL have a high incidence of CDD. In our cohort fidgety GMs had no predictive value for CDD at a later age.
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6. Buon M, Dupoux E, Jacob P, Chaste P, Leboyer M, Zalla T. {{The Role of Causal and Intentional Judgments in Moral Reasoning in Individuals with High Functioning Autism}}. {J Autism Dev Disord}. 2012.
In the present study, we investigated the ability to assign moral responsibility and punishment in adults with high functioning autism or Asperger Syndrome (HFA/AS), using non-verbal cartoons depicting an aggression, an accidental harm or a mere coincidence. Participants were asked to evaluate the agent’s causal and intentional roles, his responsibility and the punishment he deserves for his action. Adults with HFA/AS did not differ in judgments of suffering and causality from adults with typical development. However, subtle difficulties with judgments of intentional action and moral judgments were observed in participants with HFA/AS. These results are discussed in the light of emerging studies that deal with integrity of moral reasoning in individuals with autism spectrum disorders.
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7. Carr T, Lord C. {{Longitudinal study of perceived negative impact in African American and Caucasian mothers of children with autism spectrum disorder}}. {Autism}. 2012.
The purpose of this study was to examine the stability of mothers’ perceptions of the negative impact of having a child with ASD in a sample of African American and Caucasian families as their children transitioned to early adolescence. Participants were mothers and children participating in an ongoing longitudinal study of children referred for diagnosis of ASD at age two. Analyses included data from two time points, when child participants were approximately 9 and 14 years old. Linear mixed model analyses were used to examine the relationship between the primary outcome variable, mothers’ perceived negative impact across time, and hypothesized predictors. Negative impact increased significantly from late childhood to into adolescence. However, African American mothers with lower education reported significantly lower levels of perceived negative impact at both time points. Findings show that for some families, the transition to adolescence is a period in which mothers experience increased amounts of negative impact and highlight the importance of examining the influence of socioeconomic variables. Furthermore, data suggest that there may be cultural differences mediating the relationship between maternal education, ethnicity, and perceived negative impact. Implications for the importance of including families from varying levels of socioeconomic status in ASD research are discussed.
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8. Davis BJ, Kahng S, Coryat K. {{Manipulating motivating operations to facilitate the emergence of mands for a child with autism}}. {Anal Verbal Behav}. 2012; 28(1): 145-50.
Research on the functional independence of verbal operants (Skinner, 1957) has demonstrated inconsistent findings. One explanation may be that these studies have not manipulated the motivating operation (MO) to facilitate the emergence of mands (Hall & Sundberg, 1987; Lamarre & Holland, 1985). In the current study, 1 participant, diagnosed with autism, was taught to tact high-preference and low-preference leisure items, and emergence of mands was tested under varying MO conditions. Results showed the emergence of mands following periods of arranged deprivation, and greater maintenance for a highly preferred relative to a less preferred stimulus. However, mands only emerged when presession tact trials were conducted. These results suggest that in a state of deprivation, transfer of stimulus control from discriminative to motivational conditions may occur without direct training.
9. Dykstra J, Sabatos-Devito MG, Irvin DW, Boyd BA, Hume KA, Odom SL. {{Using the Language Environment Analysis (LENA) system in preschool classrooms with children with autism spectrum disorders}}. {Autism}. 2012.
This study describes the language environment of preschool programs serving children with autism spectrum disorders (ASDs) and examines relationships between child characteristics and an automated measure of adult and child language in the classroom. The Language Environment Analysis (LENA) system was used with 40 children with ASD to collect data on adult and child language. Standardized assessments were administered to obtain language, cognitive, and autism severity scores for participants. With a mean of over 5 hours of recording across two days several months apart, there was a mean of 3.6 child vocalizations per minute, 1.0 conversational turns (in which either the adult or child respond to the other within 5 seconds) per minute, and 29.2 adult words per minute. Two of the three LENA variables were significantly correlated with language age-equivalents. Cognitive age-equivalents were also significantly correlated with two LENA variables. Autism Diagnostic Observation Schedule severity scores and LENA variables were not significantly correlated. Implications for using the LENA system with children with ASD in the school environment are discussed.
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10. Fitzgerald M. {{Loss of autism in DSM-5}}. {Br J Psychiatry}. 2012; 201: 74-5.
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11. Fong BM, Hauptman JS. {{From the bench to bedside: Secondary spinal cord injury, ischemic penumbra after stroke, neural regulation of appetite, microglia in Rett syndrome, signaling pathways in peripheral nerve regeneration}}. {Surg Neurol Int}. 2012; 3: 56.
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12. Gocel J, Larson J. {{Synaptic nmda receptor-mediated currents in anterior piriform cortex are reduced in the adult fragile x mouse}}. {Neuroscience}. 2012.
Fragile X syndrome is a neurodevelopmental condition caused by the transcriptional silencing of the fragile X mental retardation 1 (FMR1) gene. The Fmr1-KO mouse exhibits age-dependent deficits in long term potentiation (LTP) at association (ASSN) synapses in anterior piriform cortex (APC). To investigate the mechanisms for this, whole-cell voltage-clamp recordings of ASSN stimulation-evoked synaptic currents were made in APC of slices from adult Fmr1-KO and WT mice, using the competitive NMDA receptor antagonist, CPP, to distinguish currents mediated by NMDA and AMPA receptors. NMDA/AMPA current ratios were lower in Fmr1-KO mice than in WT mice, at ages ranging from three to 18 months. Since amplitude and frequency of miniature excitatory postsynaptic currents (mEPSCs) mediated by AMPA receptors were no different in Fmr1-KO and WT mice at these ages, the results suggest that NMDA receptor-mediated currents are selectively reduced in Fmr1-KO mice. Analyses of voltage-dependence and decay kinetics of NMDA receptor-mediated currents did not reveal differences between Fmr1-KO and WT mice, suggesting that reduced NMDA currents in Fmr1-KO mice are due to fewer synaptic receptors rather than differences in receptor subunit composition. Reduced NMDA receptor signaling may help to explain the LTP deficit seen at APC ASSN synapses in Fmr1-KO mice at 6-18 months of age, but does not explain normal LTP at these synapses in mice 3-6 months old. Evoked currents and mEPSCs were also examined in senescent Fmr1-KO and WT mice at 24-28 months of age. NMDA/AMPA ratios were similar in senescent WT and Fmr1-KO mice, due to a decrease in the ratio in the WT mice, without significant change in AMPA receptor-mediated mEPSCs.
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13. Gross E, El-Baz AS, Sokhadze GE, Sears L, Casanova MF, Sokhadze EM. {{INDUCED EEG GAMMA OSCILLATION ALIGNMENT IMPROVES DIFFERENTIATION BETWEEN AUTISM AND ADHD GROUP RESPONSES IN A FACIAL CATEGORIZATION TASK}}. {J Neurother}. 2012; 16(2): 78-91.
INTRODUCTION: Children diagnosed with an autism spectrum disorder (ASD) often lack the ability to recognize and properly respond to emotional stimuli. Emotional deficits also characterize children with attention deficit/hyperactivity disorder (ADHD), in addition to exhibiting limited attention span. These abnormalities may effect a difference in the induced EEG gamma wave burst (35-45 Hz) peaked approximately 300-400 milliseconds following an emotional stimulus. Because induced gamma oscillations are not fixed at a definite point in time post-stimulus, analysis of averaged EEG data with traditional methods may result in an attenuated gamma burst power. METHODS: We used a data alignment technique to improve the averaged data, making it a better representation of the individual induced EEG gamma oscillations. A study was designed to test the response of a subject to emotional stimuli, presented in the form of emotional facial expression images. In a four part experiment, the subjects were instructed to identify gender in the first two blocks of the test, followed by differentiating between basic emotions in the final two blocks (i.e. anger vs. disgust). EEG data was collected from ASD (n=10), ADHD (n=9), and control (n=11) subjects via a 128 channel EGI system, and processed through a continuous wavelet transform and bandpass filter to isolate the gamma frequencies. A custom MATLAB code was used to align the data from individual trials between 200-600 ms post-stimulus, EEG site, and condition by maximizing the Pearson product-moment correlation coefficient between trials. The gamma power for the 400 ms window of maximum induced gamma burst was then calculated and compared between subject groups. RESULTS AND CONCLUSION: Condition (anger/disgust recognition, gender recognition) x Alignment x Group (ADHD, ASD, Controls) interaction was significant at most of parietal topographies (e.g., P3-P4, P7-P8). These interactions were better manifested in the aligned data set. Our results show that alignment of the induced gamma oscillations improves sensitivity of this measure in differentiation of EEG responses to emotional facial stimuli in ADHD and ASD.
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14. Grosser E, Hirt U, Janc OA, Menzfeld C, Fischer M, Kempkes B, Vogelgesang S, Manzke TU, Opitz L, Salinas-Riester G, Muller M. {{Oxidative Burden And Mitochondrial Dysfunction In A Mouse Model Of Rett Syndrome}}. {Neurobiol Dis}. 2012.
Rett syndrome is an X chromosome-linked neurodevelopmental disorder associated with cognitive impairment, motor dysfunction and breathing irregularities causing intermittent hypoxia. Also evidence for impaired mitochondrial function is accumulating. A subunit of complex III is among the potentially dys-regulated genes, the inner mitochondrial membrane is leaking protons, brain ATP levels seem reduced, and Rett patient blood samples confirm increased oxidative damage. We therefore screened for mitochondrial dysfunction and impaired redox balance. In hippocampal slices of a Rett mouse model (Mecp2(-/y)) we detected an increased FAD/NADH baseline-ratio indicating intensified oxidization. Cyanide-induced anoxia caused similar decreases in FAD/NADH ratio and mitochondrial membrane potential in both genotypes, but Mecp2(-/y) mitochondria seemed less polarized. Quantifying cytosolic redox balance with the genetically-encoded optical probe roGFP1 confirmed more oxidized baseline conditions, a more vulnerable redox-balance, and more intense responses of Mecp2(-/y) hippocampus to oxidative challenge and mitochondrial impairment. Trolox treatment improved the redox baseline of Mecp2(-/y) hippocampus and dampened its exaggerated responses to oxidative challenge. Microarray analysis of the hippocampal CA1 subfield did not detect alterations of key mitochondrial enzymes or scavenging systems. Yet, quantitative PCR confirmed a moderate upregulation of superoxide dismutase 1 in Mecp2(-/y) hippocampus, which might be a compensatory response to the increased oxidative burden. Since several receptors and ion-channels are redox-modulated, the mitochondrial and redox changes which already manifest in neonates could contribute to the hyperexcitability and diminished synaptic plasticity in MeCP2 deficiency. Therefore, targeting cellular redox balance might qualify as a potential pharmacotherapeutic approach to improve neuronal network function in Rett syndrome.
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15. Guo H, Xun G, Peng Y, Xiang X, Xiong Z, Zhang L, He Y, Xu X, Liu Y, Lu L, Long Z, Pan Q, Hu Z, Zhao J, Xia K. {{Disruption of Contactin 4 in two subjects with autism in Chinese population}}. {Gene}. 2012.
Autism is a heterogeneous childhood neurodevelopmental disorder that is characterised by deficits in verbal communication, impaired social interactions, restricted interests and repetitive behaviours. Using an Illumina HumanCNV370-Quad BeadChip, we identified two Han Chinese individuals with autism and large duplications (~1.6Mb and ~2.4Mb) disrupting the same CNTN4 gene. CNTN4 encodes a protein that functions as a cell-adhesion molecule and may play an essential role in the formation of axon connections in the developing nervous system. The disruption of this gene has been reported to be the cause of the 3p deletion syndrome and also a possible susceptibility factor for autism spectrum disorders (ASDs). Our results suggest that rare copy number variations (CNVs) in CNTN4 may also influence autism susceptibility in Asian populations. Interestingly, a comparison of the clinical phenotypes between the two subjects revealed that the subject with the 2.4Mb CNV (involving several other genes) presented with a more severe phenotype than the subject with the 1.6Mb CNV (disrupting only CNTN4 and CNTN6). This suggests that other genes in the nearby region may contribute to the pathogenesis.
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16. Guzinski EM, Cihon TM, Eshleman J. {{The effects of tact training on stereotypic vocalizations in children with autism}}. {Anal Verbal Behav}. 2012; 28(1): 101-10.
This study was a systematic extension of Karmali, Greer, Nuzzulo-Gomez, Ross, and Rivera-Valdes (2005) and Ahearn, Clark, MacDonald, and Chung (2007). We investigated the effects of a tact correction procedure on stereotypic vocalizations in 4 children diagnosed with autism who ranged in age from 6 to 16 years. Participants had limited vocal verbal repertoires and were primarily dependent on prompts for the emission of appropriate vocalizations. A multiple-baseline design across participants was used. Data were collected on instances of stereotypic vocalizations and independent tacts during baseline conditions and on instances of stereotypic vocalizations, independent tacts, and echoic-tacts during intervention. Procedural integrity and social validity data were also obtained. The results indicated a decrease in stereotypic vocalizations for 3 of the 4 participants and a slight increase in appropriate vocal verbal behavior (i.e., tacting) for all participants. The study provides support for the use of tact correction procedures to decrease stereotypic vocalizations and increase appropriate vocalizations in children with autism.
17. Jain R, Juneja M, Sairam S. {{Children With Developmental Disabilities in India: Age of Initial Concern and Referral for Rehabilitation Services, and Reasons for Delay in Referral}}. {J Child Neurol}. 2012.
This study aimed to identify the age at first concern and age at referral for rehabilitation services in children with developmental disabilities in India. Two hundred fifty-nine children were included and data were collected from the parents. In children with developmental disabilities (excluding autism spectrum disorders), median age at initial concern was 7 months and age at referral for rehabilitation services was 13 months. In children with autism spectrum disorders, median age at initial concern was 24 months and age at referral was 42 months. Physician’s recognition of the condition, single child, institutional delivery and neonatal admission >/=4 days were associated with early referral. The common reasons cited by the parents for delay in services were reassurance by physicians or family members and nonreferral by the physicians. Thus, routine screening for developmental problems (including autism) and improving the awareness of these conditions among physicians and society would lead to early referral.
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18. Kodak T, Paden A, Dickes N. {{Training and Generalization of Peer-Directed Mands With Non-vocal Children With Autism}}. {Anal Verbal Behav}. 2012; 28(1): 119-24.
The current investigation evaluated the effects of extinction and prompts on training and generalization of peer-directed mands for preferred items using a picture exchange communication system with 2 children diagnosed with autism. Results showed that independent mands with a peer increased during treatment for both participants, generalized to a novel peer without explicit training for 1 participant and following training for the second participant, and maintained in a more naturalistic setting that simulated a free-play activity in a classroom.
19. Lewis S. {{Neurological disorders: SHANK2 misbehaves in autism}}. {Nat Rev Neurosci}. 2012.
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20. Maisonneuve H, Floret D. {{[Wakefield’s affair: 12 years of uncertainty whereas no link between autism and MMR vaccine has been proved.]}}. {Presse Med}. 2012.
In 1998, a Lancetpaper described 12 cases of children with autism, and having been vaccinated (MMR) in the United Kingdom; medias presented the information to the lay public, stating that a link was possible. In 2004, TheLancetpublished letters responding to allegations against the paper. Later, it was established that no link existed between MMR and autism; few years and many publications were necessary to conclude to the absence of evidence. In 2010, the General Medical Council published a report against Dr Wakefield, first author of the 1998 paper, and showing that the children hospital records did not contain the evidence; hospital records differed from the published paper; theLancetretracted the 1998 paper. In 2011, Brian Deer, a journalist, published the complete story in theBMJ: in 1996, Wakefield was approached by lawyers representing an anti-vaccine lobby, and they supported the Wakefield research. Dr Wakefield left England; in 2012 he works in Texas, USA, for anti-vaccine lobbies.
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21. Malesa E, Foss-Feig J, Yoder P, Warren Z, Walden T, Stone W. {{Predicting language and social outcomes at age 5 for later-born siblings of children with autism spectrum disorders}}. {Autism}. 2012.
The relation between early joint attention (in which a child coordinates attention between another person and an object or event) and later language and social outcomes was examined in younger siblings of children with autism spectrum disorder (Sibs-ASD) and younger siblings of children with typical development (Sibs-TD). Initial levels of joint attention (at a mean age of 15 months) as well as growth in levels of joint attention (between 15 months and 34 months) were used as potential predictors of outcomes at age 5. The results revealed that initial levels of initiating joint attention (IJA) were associated with language skills at outcome. In addition, growth of responding to joint attention (RJA) was associated with social skills at age 5. These patterns of associations were not significantly different between the Sibs-TD and Sibs-ASD groups. Although the Sibs-ASD group had lower joint attention scores than the Sibs-TD group at younger ages, significant group differences were not found for most measures at age 5.
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22. Meir L, Strand LI, Alice K. {{A model for pain behavior in individuals with intellectual and developmental disabilities}}. {Res Dev Disabil}. 2012; 33(6): 1984-9.
The dearth of information on the pain experience of individuals with intellectual and developmental disabilities (IDD) calls for a more comprehensive understanding of pain in this population. The Non-Communicating Adults Pain Checklist (NCAPC) is an 18-item behavioral scale that was recently found to be reliable, valid, sensitive and clinically feasible to assess pain levels in adults with IDD. The aim of the present article is to propose and examine a pain model for adults with IDD. The procedure involved videotaping 228 participants (mean age: 38.7 years) before and during an influenza vaccination. The pain model was constructed using previously collected data, by means of confirmatory factor analysis of the sum scores, using the half split procedure. The model was tested on a randomized group of participants (N=89) for generalization. The constructed model seems to reflect two categories of pain responses: a basic response consisting of physiological measures and body reaction, and an advanced response consisting of vocal and emotional reactions, as well as facial and protective expressions. The model presented excellent Goodness of Fit Index (0.99) and an acceptable RMSEA value (0.061). We conclude that the current article presents a first-of-its-kind model of pain behavior in adults with IDD.
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23. Michel M, Schmidt MJ, Mirnics K. {{Immune system gene dysregulation in autism & schizophrenia}}. {Dev Neurobiol}. 2012.
Gene*environment interactions play critical roles in the emergence of autism and schizophrenia pathophysiology. In both disorders, recent genetic association studies have provided evidence for disease-linked variation in immune system genes and post-mortem gene expression studies have shown extensive chronic immune abnormalities in brains of diseased subjects. Furthermore, peripheral biomarker studies revealed that both innate and adaptive immune systems are dysregulated. In both disorders symptoms of the disease correlate with the immune system dysfunction; yet, in autism this process appears to be chronic and sustained, while in schizophrenia it is exacerbated during acute episodes. Furthermore, since immune abnormalities endure into adulthood and anti-inflammatory agents appear to be beneficial, it is likely that these immune changes actively contribute to disease symptoms. Modeling these changes in animals provided further evidence that prenatal maternal immune activation alters neurodevelopment and leads to behavioral changes that are relevant for autism and schizophrenia. The converging evidence strongly argues that neurodevelopmental immune insults and genetic background critically interact and result in increased risk for either autism or schizophrenia. Further research in these areas may improve prenatal health screening in genetically at-risk families and may also lead to new preventive and/or therapeutic strategies. (c) 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2012.
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24. Pfeifer JH, Merchant JS, Colich NL, Hernandez LM, Rudie JD, Dapretto M. {{Neural and Behavioral Responses During Self-Evaluative Processes Differ in Youth With and Without Autism}}. {J Autism Dev Disord}. 2012.
This fMRI study investigated neural responses while making appraisals of self and other, across the social and academic domains, in children and adolescents with and without autism spectrum disorders (ASD). Compared to neurotypical youth, those with ASD exhibited hypoactivation of ventromedial prefrontal cortex during self-appraisals. Responses in middle cingulate cortex (MCC) and anterior insula (AI) also distinguished between groups. Stronger activity in MCC and AI during self-appraisals was associated with better social functioning in the ASD group. Although self-appraisals were significantly more positive in the neurotypical group, positivity was unrelated to brain activity in these regions. Together, these results suggest that multiple brain regions support making self-appraisals in neurotypical development, and function atypically in youth with ASD.
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25. Potvin MC, Snider L, Prelock P, Kehayia E, Wood-Dauphinee S. {{Recreational Participation of Children with High Functioning Autism}}. {J Autism Dev Disord}. 2012.
The recreation of children with High Functioning Autism (HFA) is not well understood. The objective of this cross-sectional study was to compare the recreational engagement of children with HFA and their typically developing peers. Children with HFA (n = 30) and peers (n = 31) were similar on key characteristics that may impact recreation except those related to the HFA attributes. Children with HFA differed from peers in terms of diversity (p = .002), social aspects (p = .006) and locations (p < .001) of recreation. The two groups were not statistically different in personal intensity (p = .684), enjoyment (p = .239) or preferences (p = .788) of recreation. A recreational profile was developed to benefit parents and clinicians in supporting the recreation of these children.
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26. Rojahn J, Zaja RH, Turygin N, Moore L, van Ingen DJ. {{Functions of maladaptive behavior in intellectual and developmental disabilities: Behavior categories and topographies}}. {Res Dev Disabil}. 2012; 33(6): 2020-7.
Research has shown that different maladaptive behavior categories may be maintained by different contingencies. We examined whether behavior categories or behavior topographies determine functional properties. The Questions about Behavioral Function with its five subscales (Attention, Escape, Nonsocial, Physical, and Tangible) was completed by direct care staff for one target behavior for each of 115 adults with varying degrees of intellectual disabilities. In the first step we examined the functional properties of three broad behavior categories (self-injurious behavior [SIB], stereotypic behavior, and aggressive/destructive behavior). Consistent with previous research stereotyped behaviors and SIB had significantly higher QABF Nonsocial (i.e., automatic positive reinforcement or self-stimulation) subscale scores than aggressive behavior, while none of the other subscales showed differences across the three behavior categories. Contrary to earlier studies, escape (or negative social reinforcement) was an important function not only for aggressive behavior, but also for SIB and stereotypies. A second analysis examined functional properties depending on two factors: the behavior topography (hitting vs. non-hitting behaviors) and their respective behavior category (SIB vs. aggression). SIB topographies had higher ratings than aggressive behavior on the QABF Nonsocial subscale. Of the five QABF subscales, only the subscale Nonsocial differed between categories of maladaptive behavior. Furthermore it was the behavior categories rather than the topographies that determined functional properties.
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27. Sahu JK, Gulati S, Sapra S, Arya R, Chauhan S, Chowdhury MR, Gupta N, Kabra M, Gupta YK, Dwivedi SN, Kalra V. {{Effectiveness and Safety of Donepezil in Boys With Fragile X Syndrome: A Double-Blind, Randomized, Controlled Pilot Study}}. {J Child Neurol}. 2012.
The present study was designed as a 12-week, randomized, double-blind, placebo-controlled pilot study to evaluate the effectiveness and safety of donepezil in boys with fragile X syndrome. Twenty boys with fragile X syndrome were randomized to receive 12 weeks of treatment with either placebo or donepezil (2.5 mg daily for initial 4 weeks followed by 5 mg daily for next 8 weeks). The outcome measures included change in intelligence quotient scores on Stanford-Binet Intelligence Scale (Hindi adaptation by Kulshrestha), change in behavioral scores by Conners 3 Parent Rating Scale (Short) and Childhood Autism Rating Scale, safety, and tolerability of donepezil. The study failed to show significant difference in intelligence quotient and behavioral scales with donepezil therapy over 12 weeks. However, donepezil appeared to be safe and well tolerated.
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28. Shih CH, Chang ML. {{Enabling people with developmental disabilities to actively follow simple instructions and perform designated occupational activities according to simple instructions with Battery-free wireless mice by controlling environmental stimulation}}. {Res Dev Disabil}. 2012; 33(6): 2013-9.
This study extended Battery-free wireless mouse 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 Battery-free wireless mice with a newly developed extended object location detection program (EOLDP). This study was performed according to an ABAB sequence in which A represented the baseline and B represented intervention phases. Data showed that both participants significantly increased their target responses (performing a designated occupational activity) by activating the control system to produce their preferred environmental stimulation during the intervention phases. Practical and developmental implications of the findings are discussed.
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29. Sienaert P. {{[The ethical duty to treat children and adolescents with autism and catatonia]}}. {Tijdschr Psychiatr}. 2012; 54(6): 493-5.
30. Song Y, Hakoda Y. {{Selective Attention to Facial Emotion and Identity in Children With Autism: Evidence for Global Identity and Local Emotion}}. {Autism Res}. 2012.
The present study sought to test the global-identity and local-emotion processing hypothesis in face perception by examining emotional interference in face perception in children with high-functioning autism/Asperger’s syndrome. Participants judged either the expression or the identity of faces while identity/expression was either held constant or varied (Garner paradigm). The results revealed that emotional expressions interfered with identity processing in face perception for autism spectrum disorder individuals. Taken together with previous findings, our results suggest that emotion judgment mainly depends on local processing, while identity judgment mainly depends on global processing. Autism Res 2012, **: **-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
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31. Sprinkle EC, Miguel CF. {{The effects of listener and speaker training on emergent relations in children with autism}}. {Anal Verbal Behav}. 2012; 28(1): 111-7.
The current study assessed the use of standard conditional discrimination (i.e., listener) and textual/tact (i.e., speaker) training in the establishment of equivalence classes containing dictated names, tacts/textual responses, pictures and printed words. Four children (ages 5 to 7 years) diagnosed with autism were taught to select pictures and printed words in the presence of their dictated names, and to emit the tact or textual response corresponding to a presented picture or printed word. Both speaker and listener training resulted in the formation of stimulus classes for 3 of 4 participants.
32. Sullivan PF, Magnusson C, Reichenberg A, Boman M, Dalman C, Davidson M, Fruchter E, Hultman CM, Lundberg M, Langstrom N, Weiser M, Svensson AC, Lichtenstein P. {{Family History of Schizophrenia and Bipolar Disorder as Risk Factors for AutismFamily History of Psychosis as Risk Factor for ASD}}. {Arch Gen Psychiatry}. 2012: 1-5.
CONTEXT The clinical and etiologic relation between autism spectrum disorders (ASDs) and schizophrenia is unclear. The degree to which these disorders share a basis in etiology has important implications for clinicians, researchers, and those affected by the disorders. OBJECTIVE To determine whether a family history of schizophrenia and/or bipolar disorder is a risk factor for ASD. DESIGN, SETTING, AND PARTICIPANTS We conducted a case-control evaluation of histories of schizophrenia or bipolar disorder in first-degree relatives of probands in 3 samples-population registers in Sweden, Stockholm County (in Sweden), and Israel. Probands met criteria for ASD, and affection status of parents and siblings for schizophrenia and bipolar disorder were established. RESULTS The presence of schizophrenia in parents was associated with an increased risk for ASD in a Swedish national cohort (odds ratio [OR], 2.9; 95% CI, 2.5-3.4) and a Stockholm County cohort (OR, 2.9; 95% CI, 2.0-4.1). Similarly, schizophrenia in a sibling was associated with an increased risk for ASD in a Swedish national cohort (OR, 2.6; 95% CI, 2.0-3.2) and an Israeli conscription cohort (OR, 12.1; 95% CI, 4.5-32.0). Bipolar disorder showed a similar pattern of associations but of lesser magnitude. CONCLUSIONS Findings from these 3 registers along with consistent findings from a similar study in Denmark suggest that ASD, schizophrenia, and bipolar disorder share common etiologic factors.
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33. Susa C, Schlinger HD, Jr. {{Using a lag schedule to increase variability of verbal responding in an individual with autism}}. {Anal Verbal Behav}. 2012; 28(1): 125-30.
Research has shown that reinforcing novel behaviors can increase the number of different ways that an individual behaves (Goetz & Baer, 1973; Pryor, Haag, & O’Reilly, 1969). However, it was not until more recently that researchers began to consider variability to be a reinforceable operant in and of itself (Neuringer, 2002). More specifically, Neuringer suggested that variability can be taught using a Lag x schedule of reinforcement, in which x refers to the number of previous responses from which the current response must differ in order for reinforcement to occur (Page & Neuringer, 1985). The purpose of the present study was to extend one of the first studies of a Lag x schedule on verbal responses with human subjects (Lee, McComas, & Jawor, 2002), by increasing the lag criteria while attempting to address some of methodological limitations of the study. The participant was a 7-year-old male with autism. A changing criterion design was used and results showed that 3 novel responses were acquired and varied according to the lag schedule of reinforcement.
34. Thomas RH, Meeking MM, Mepham JR, Tichenoff L, Possmayer F, Liu S, Macfabe DF. {{The enteric bacterial metabolite propionic acid alters brain and plasma phospholipid molecular species: further development of a rodent model of autism spectrum disorders}}. {J Neuroinflammation}. 2012; 9(1): 153.
ABSTRACT: Gastrointestinal symptoms and altered blood phospholipid profiles have been reported in patients with autism spectrum disorders (ASD). Most of the phospholipid analyses have been conducted on the fatty acid composition of isolated phospholipid classes following hydrolysis. A paucity of information exists on how the intact phospholipid molecular species are altered in ASD. We applied ESI/MS to determine how brain and blood intact phospholipid species were altered during the induction of ASD-like behaviors in rats following intraventricular infusions with the enteric bacterial metabolite propionic acid. Animals were infused daily for 8 days, locomotor activity assessed, and animals killed during the induced behaviors. Propionic acid infusions increased locomotor activity. Lipid analysis revealed treatment altered 21 brain and 30 blood phospholipid molecular species. Notable alterations were observed in the composition of brain SM, diacyl mono and polyunsaturated PC, PI, PS, PE, and plasmalogen PC and PE molecular species. These alterations suggest that the propionic acid rat model is a useful tool to study aberrations in lipid metabolism known to affect membrane fluidity, peroxisomal function, gap junction coupling capacity, signaling, and neuroinflammation, all of which may be associated with the pathogenesis of ASD.
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35. Uchino S, Waga C. {{SHANK3 as an autism spectrum disorder-associated gene}}. {Brain Dev}. 2012.
SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density of excitatory synapses, and plays important roles in the formation, maturation, and maintenance of synapses. Haploinsufficiency of the SHANK3 gene causes a developmental disorder, 22q13.3 deletion syndrome (known as Phelan-McDermid syndrome), that is characterized by severe expressive language and speech delay, hypotonia, global developmental delay, and autistic behavior. Since several SHANK3 mutations have been identified in a particular phenotypic group in patients with autism spectrum disorder (ASD), the SHANK3 is strongly suspected of being involved in the pathogenesis and neuropathology of ASD. Five CpG-islands have been identified in the SHANK3 gene, and tissue-specific expression of SHANK3 is regulated by DNA methylation in an epigenetic manner. Cumulative evidence has shown that several SHANK3 variants are expressed in the developing rodent brain and that their expression is regulated by DNA methylation of intragenic promoters. We identified novel SHANK3 transcripts whose transcription started at the vicinity of the CpG-island 2 in the mouse brain. Shank3 mutant mice exhibit autistic-like behaviors, including impaired social interaction and repetitive behaviors. In this article we review recent findings in regard to higher brain functions of SHANK3, epigenetic regulation of SHANK3 expression, and SHANK3-related ASD that were obtained from genetic analyses in ASD patients, molecular biological studies using developing mouse brains, and studies of Shank3 mutant mice.
