1. Abrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, Menashe I, Wadkins T, Banerjee-Basu S, Packer A. {{SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)}}. {Molecular autism}. 2013 Oct 3;4(1):36.
New technologies enabling genome-wide interrogation have led to a large and rapidly growing number of ASD candidate genes. Although encouraging, the volume and complexity of these data make it challenging for scientists, particularly non geneticists, to comprehensively evaluate available evidence for individual genes. Described here is the Gene Scoring module within SFARI Gene 2.0 (http://bit.ly/IttMWW), a platform developed to enable systematic community driven assessment of genetic evidence for individual genes with regard to ASD.
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2. Begeer S, Wierda M, Scheeren AM, Teunisse JP, Koot HM, Geurts HM. {{Verbal fluency in children with autism spectrum disorders: Clustering and switching strategies}}. {Autism}. 2013 Oct 3.
This study highlights differences in cognitive strategies in children and adolescents with and without autism spectrum disorders (n = 52) on a verbal fluency task (naming as many words as possible (e.g. animals) within 60 s). The ability to form clusters of words (e.g. farm animals like « cow-horse-goat ») or to switch between unrelated words (e.g. « snake » and « cat ») was analyzed using a coding method that more stringently differentiates between these strategies. Results indicated that children and adolescents with autism spectrum disorders switched less frequently, but produced slightly larger clusters than the comparison group, resulting in equal numbers of total words produced. The currently used measures of cognitive flexibility suggest atypical, but possibly equally efficient, fluency styles used by individuals with autism spectrum disorders.
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3. Biscaldi M, Rauh R, Irion L, Jung NH, Mall V, Fleischhaker C, Klein C. {{Deficits in motor abilities and developmental fractionation of imitation performance in high-functioning autism spectrum disorders}}. {European child & adolescent psychiatry}. 2013 Oct 2.
The co-occurrence of motor and imitation disabilities often characterises the spectrum of deficits seen in patients with autism spectrum disorders (ASD). Whether these seemingly separate deficits are inter-related and whether, in particular, motor deficits contribute to the expression of imitation deficits is the topic of the present study and was investigated by comparing these deficits’ cross-sectional developmental trajectories. To that end, different components of motor performance assessed in the Zurich Neuromotor Assessment and imitation abilities for facial movements and non-meaningful gestures were tested in 70 subjects (aged 6-29 years), including 36 patients with high-functioning ASD and 34 age-matched typically developed (TD) participants. The results show robust deficits in probands with ASD in timed motor performance and in the quality of movement, which are all independent of age, with one exception. Only diadochokinesis improves moderately with increasing age in ASD probands. Imitation of facial movements and of non-meaningful hand, finger, hand finger gestures not related to social context or tool use is also impaired in ASD subjects, but in contrast to motor performance this deficit overall improves with age. A general imitation factor, extracted from the highly inter-correlated imitation tests, is differentially correlated with components of neuromotor performance in ASD and TD participants. By developmentally fractionating developmentally stable motor deficits from developmentally dynamic imitation deficits, we infer that imitation deficits are primarily cognitive in nature.
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4. Bolton S, McDonald D, Curtis E, Kelly S, Gallagher L. {{Autism in a recently arrived immigrant population}}. {European journal of pediatrics}. 2013 Oct 2.
This study aims to establish whether children of an immigrant maternal population presented with a higher rate of autism than the indigenous population and to explore their presentation with regard to severity of symptoms, demographics and ethnicity. It is a retrospective case note analysis of 366 children who presented to the paediatric developmental service in the Adelaide and Meath incorporating the National Children’s Hospital, Tallaght, Ireland between 2007 and 2009. During the study period, 366 children presented. Fifty-eight children (16 %) had mothers who were born in Africa and 53 (14 %) were born to mothers originating from a wider variety of countries. Two hundred and forty-eight children (68 %) had mothers born in Ireland. Maternal origin was not identified for seven children (2 %). An autistic spectrum disorder (ASD) was diagnosed in 131 children and speech and language delay in 132. Of the children with an ASD diagnosis, a higher proportion of the African cohort 13/18 (72.2 %) presented with moderate/severe cognitive disability compared to the Irish group 9/55(16.3 %), and the children in the African cohort showed a higher heritability with 36.9 % having a positive family history of autism reported compared to 26.3 % of the Irish cohort with an ASD diagnosis. Conclusion: This study highlights an observation of increased rates of ASD among a migrant population derived particularly from children born to mothers originating in Sub-Saharan Africa. This cohort is more severely affected. Further validation in an epidemiological sample is warranted, which if replicated, may help to identify possible aetiological risk factors.
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5. Campillo C, Herrera G, Remirez de Ganuza C, Cuesta JL, Abellan R, Campos A, Navarro I, Sevilla J, Pardo C, Amati F. {{Using Tic-Tac software to reduce anxiety-related behaviour in adults with autism and learning difficulties during waiting periods: A pilot study}}. {Autism}. 2013 Oct 3.
Deficits in the perception of time and processing of changes across time are commonly observed in individuals with autism. This pilot study evaluated the efficacy of the use of the software tool Tic-Tac, designed to make time visual, in three adults with autism and learning difficulties. This research focused on applying the tool in waiting situations where the participants exhibited anxiety-related behaviour. The intervention followed a baseline and intervention (AB) design, and a partial interval recording procedure was used to code the presence of stereotypes, nervous utterances, wandering or other examples of nervousness during the selected waiting situations. The results showed that the use of Tic-Tac resulted in lower levels of anxiety-related behaviour in all three participants, compared to the baseline, suggesting that this software may be an effective technology for helping people with autism with organisation and predictability during waiting periods. The results are discussed in terms of limitations and implications for further study.
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6. Cridland EK, Jones SC, Magee CA, Caputi P. {{Family-focused autism spectrum disorder research: A review of the utility of family systems approaches}}. {Autism}. 2013 Oct 3.
A family member with an autism spectrum disorder presents pervasive and bidirectional influences on the entire family system, suggesting a need for family-focused autism spectrum disorder research. While there has been increasing interest in this research area, family-focused autism spectrum disorder research can still be considered relatively recent, and there are limitations to the existing literature. The purpose of this article is to provide theoretical and methodological directions for future family-focused autism spectrum disorder research. In particular, this article proposes Family Systems approaches as a common theoretical framework for future family-focused autism spectrum disorder research by considering theoretical concepts such as Boundaries, Ambiguous Loss, Resilience and Traumatic Growth. We discuss reasons why these concepts are important to researching families living with autism spectrum disorder and provide recommendations for future research. The potential for research grounded in Family Systems approaches to influence clinical support services is also discussed.
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7. Dosman C, Adams D, Wudel B, Vogels L, Turner J, Vohra S. {{Complementary, Holistic, and Integrative Medicine: Autism Spectrum Disorder and Gluten- and Casein-Free Diet}}. {Pediatrics in review / American Academy of Pediatrics}. 2013 Oct;34(10):e36-e41.
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8. Gessaroli E, Santelli E, di Pellegrino G, Frassinetti F. {{Personal Space Regulation in Childhood Autism Spectrum Disorders}}. {PloS one}. 2013;8(9):e74959.
People appropriately adjust the distance between themselves and others during social interaction, and they may feel discomfort and move away when another person intrudes on their personal space. In the present study, we investigated personal space in children with persistent difficulties in the domain of social behavior, such as children with autism spectrum disorders (ASD), and in children with typical development (TD). The stop-distance paradigm was used to derive estimates of interpersonal distance, before and after a brief interaction with an unfamiliar adult confederate. The results showed that ASD children felt comfortable at a greater distance compared to TD children. Moreover, personal space shrunk after interaction with the confederate in TD children, but it failed to do so in ASD children. These findings reveal that autism deeply affects the regulation of personal space, influencing both its size and flexibility.
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9. Grynszpan O, Weiss PL, Perez-Diaz F, Gal E. {{Innovative technology-based interventions for autism spectrum disorders: A meta-analysis}}. {Autism}. 2013 Oct 3.
This article reports the results of a meta-analysis of technology-based intervention studies for children with autism spectrum disorders. We conducted a systematic review of research that used a pre-post design to assess innovative technology interventions, including computer programs, virtual reality, and robotics. The selected studies provided interventions via a desktop computer, interactive DVD, shared active surface, and virtual reality. None employed robotics. The results provide evidence for the overall effectiveness of technology-based training. The overall mean effect size for posttests of controlled studies of children with autism spectrum disorders who received technology-based interventions was significantly different from zero and approached the medium magnitude, d = 0.47 (confidence interval: 0.08-0.86). The influence of age and IQ was not significant. Differences in training procedures are discussed in the light of the negative correlation that was found between the intervention durations and the studies’ effect sizes. The results of this meta-analysis provide support for the continuing development, evaluation, and clinical usage of technology-based intervention for individuals with autism spectrum disorders.
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10. Herbert MR, Sage C. {{Autism and EMF? Plausibility of a pathophysiological link – Part I}}. {Pathophysiology : the official journal of the International Society for Pathophysiology / ISP}. 2013 Oct 3.
Although autism spectrum conditions (ASCs) are defined behaviorally, they also involve multileveled disturbances of underlying biology that find striking parallels in the physiological impacts of electromagnetic frequency and radiofrequency exposures (EMF/RFR). Part I of this paper will review the critical contributions pathophysiology may make to the etiology, pathogenesis and ongoing generation of core features of ASCs. We will review pathophysiological damage to core cellular processes that are associated both with ASCs and with biological effects of EMF/RFR exposures that contribute to chronically disrupted homeostasis. Many studies of people with ASCs have identified oxidative stress and evidence of free radical damage, cellular stress proteins, and deficiencies of antioxidants such as glutathione. Elevated intracellular calcium in ASCs may be due to genetics or may be downstream of inflammation or environmental exposures. Cell membrane lipids may be peroxidized, mitochondria may be dysfunctional, and various kinds of immune system disturbances are common. Brain oxidative stress and inflammation as well as measures consistent with blood-brain barrier and brain perfusion compromise have been documented. Part II of this paper will review how behaviors in ASCs may emerge from alterations of electrophysiological oscillatory synchronization, how EMF/RFR could contribute to these by de-tuning the organism, and policy implications of these vulnerabilities. Changes in brain and autonomic nervous system electrophysiological function and sensory processing predominate, seizures are common, and sleep disruption is close to universal. All of these phenomena also occur with EMF/RFR exposure that can add to system overload (‘allostatic load’) in ASCs by increasing risk, and worsening challenging biological problems and symptoms; conversely, reducing exposure might ameliorate symptoms of ASCs by reducing obstruction of physiological repair. Various vital but vulnerable mechanisms such as calcium channels may be disrupted by environmental agents, various genes associated with autism or the interaction of both. With dramatic increases in reported ASCs that are coincident in time with the deployment of wireless technologies, we need aggressive investigation of potential ASC – EMF/RFR links. The evidence is sufficient to warrant new public exposure standards benchmarked to low-intensity (non-thermal) exposure levels now known to be biologically disruptive, and strong, interim precautionary practices are advocated.
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11. Ichikawa K, Takahashi Y, Ando M, Anme T, Ishizaki T, Yamaguchi H, Nakayama T. {{TEACCH-based group social skills training for children with high-functioning autism: a pilot randomized controlled trial}}. {BioPsychoSocial medicine}. 2013 Oct 1;7(1):14.
BACKGROUND: Although social skills training programs for people with high-functioning autism (HFA) are widely practiced, the standardization of curricula, the examination of clinical effectiveness, and the evaluation of the feasibility of future trials have yet to be done in Asian countries. To compensate for this problem, a Japanese pilot randomized controlled trial (RCT) of the Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH)-based group social skills training for children with HFA and their mothers was conducted. METHODS: Eleven children with HFA, aged 5–6 years, and their mothers were randomly assigned to the TEACCH program (n=5) or a waiting-list control group (n=6). The program involved comprehensive group intervention and featured weekly 2-hour sessions, totaling 20 sessions over six months. The adaptive behaviors and social reciprocity of the children, parenting stress, and parent–child interactions were assessed using the Strengths and Difficulties Questionnaire (SDQ), Parenting Stress Index (PSI), Beck depression inventory-II (BDI-II), and Interaction Rating Scale (IRS). RESULTS: Through this pilot trial, the intervention and evaluation of the program has been shaped. There were no dropouts from the program and the mothers’ satisfaction was high. The outcome measurements improved more in the program group than in the control group, with moderate effect sizes (SDQ, 0.71; PSI, 0.58; BDI-II, 0.40; and IRS, 0.69). This pilot trial also implied that this program is more beneficial for high IQ children and mothers with low stress than for those who are not. CONCLUSION: We have standardized the TEACCH program, confirmed the feasibility of a future trial, and successfully estimated the positive effect size. These findings will contribute to a larger trial in the future and to forthcoming systematic reviews with meta-analyses.Trial registration: UMIN000004560.
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12. Jung CR, Lin YT, Hwang BF. {{Air Pollution and Newly Diagnostic Autism Spectrum Disorders: A Population-Based Cohort Study in Taiwan}}. {PloS one}. 2013;8(9):e75510.
There is limited evidence that long-term exposure to ambient air pollution increases the risk of childhood autism spectrum disorder (ASD). The objective of the study was to investigate the associations between long-term exposure to air pollution and newly diagnostic ASD in Taiwan. We conducted a population-based cohort of 49,073 children age less than 3 years in 2000 that were retrieved from Taiwan National Insurance Research Database and followed up from 2000 through 2010. Inverse distance weighting method was used to form exposure parameter for ozone (O3), carbon monoxide (CO), nitrogen dioxide (NO2), sulfur dioxide (SO2), and particles with aerodynamic diameter less than 10 microm (PM10). Time-dependent Cox proportional hazards (PH) model was performed to evaluate the relationship between yearly average exposure air pollutants of preceding years and newly diagnostic ASD. The risk of newly diagnostic ASD increased according to increasing O3, CO, NO2, and SO2 levels. The effect estimate indicating an approximately 59% risk increase per 10 ppb increase in O3 level (95% CI 1.42-1.79), 37% risk increase per 10 ppb in CO (95% CI 1.31-1.44), 340% risk increase per 10 ppb increase in NO2 level (95% CI 3.31-5.85), and 17% risk increase per 1 ppb in SO2 level (95% CI 1.09-1.27) was stable with different combinations of air pollutants in the multi-pollutant models. Our results provide evident that children exposure to O3, CO, NO2, and SO2 in the preceding 1 year to 4 years may increase the risk of ASD diagnosis.
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13. Krumm N, O’Roak BJ, Karakoc E, Mohajeri K, Nelson B, Vives L, Jacquemont S, Munson J, Bernier R, Eichler EE. {{Transmission Disequilibrium of Small CNVs in Simplex Autism}}. {American journal of human genetics}. 2013 Oct 3;93(4):595-606.
We searched for disruptive, genic rare copy-number variants (CNVs) among 411 families affected by sporadic autism spectrum disorder (ASD) from the Simons Simplex Collection by using available exome sequence data and CoNIFER (Copy Number Inference from Exome Reads). Compared to high-density SNP microarrays, our approach yielded approximately 2x more smaller genic rare CNVs. We found that affected probands inherited more CNVs than did their siblings (453 versus 394, p = 0.004; odds ratio [OR] = 1.19) and that the probands’ CNVs affected more genes (921 versus 726, p = 0.02; OR = 1.30). These smaller CNVs (median size 18 kb) were transmitted preferentially from the mother (136 maternal versus 100 paternal, p = 0.02), although this bias occurred irrespective of affected status. The excess burden of inherited CNVs among probands was driven primarily by sibling pairs with discordant social-behavior phenotypes (p < 0.0002, measured by Social Responsiveness Scale [SRS] score), which contrasts with families where the phenotypes were more closely matched or less extreme (p > 0.5). Finally, we found enrichment of brain-expressed genes unique to probands, especially in the SRS-discordant group (p = 0.0035). In a combined model, our inherited CNVs, de novo CNVs, and de novo single-nucleotide variants all independently contributed to the risk of autism (p < 0.05). Taken together, these results suggest that small transmitted rare CNVs play a role in the etiology of simplex autism. Importantly, the small size of these variants aids in the identification of specific genes as additional risk factors associated with ASD.
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14. Leonard H, Ravikumara M, Baikie G, Naseem N, Ellaway C, Percy A, Abraham S, Geerts S, Lane J, Jones M, Bathgate K, Downs J. {{Assessment and Management of Nutrition and Growth in Rett Syndrome}}. {Journal of pediatric gastroenterology and nutrition}. 2013 Oct;57(4):451-60.
OBJECTIVES:: We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. METHODS:: Initial draft recommendations were created based upon literature review and 34 open-ended questions in which the literature was lacking. Statements and questions were made available to an international, multidisciplinary panel of clinicians in an online format and a Microsoft Word-formatted version of the draft via e-mail. Input was sought using a 2-stage modified Delphi process to reach consensus. Items included clinical assessment of growth, anthropometry, feeding difficulties and management to increase energy intake, decrease feeding difficulties, and consideration of gastrostomy. RESULTS:: Agreement was achieved on 101 of 112 statements. A comprehensive approach to the management of poor growth in Rett syndrome is recommended that takes into account factors such as feeding difficulties and nutritional needs. A body mass index of approximately the 25th centile can be considered as a reasonable target in clinical practice. Gastrostomy is indicated for extremely poor growth, if there is risk of aspiration and if feeding times are prolonged. CONCLUSIONS:: These evidence- and consensus-based recommendations have the potential to improve care of nutrition and growth in a rare condition and stimulate research to improve the present limited evidence base.
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15. Li Y, Wang H, Muffat J, Cheng AW, Orlando DA, Loven J, Kwok SM, Feldman DA, Bateup HS, Gao Q, Hockemeyer D, Mitalipova M, Lewis CA, Vander Heiden MG, Sur M, Young RA, Jaenisch R. {{Global Transcriptional and Translational Repression in Human-Embryonic-Stem-Cell-Derived Rett Syndrome Neurons}}. {Cell stem cell}. 2013 Oct 3;13(4):446-58.
Rett syndrome (RTT) is caused by mutations of MECP2, a methyl CpG binding protein thought to act as a global transcriptional repressor. Here we show, using an isogenic human embryonic stem cell model of RTT, that MECP2 mutant neurons display key molecular and cellular features of this disorder. Unbiased global gene expression analyses demonstrate that MECP2 functions as a global activator in neurons but not in neural precursors. Decreased transcription in neurons was coupled with a significant reduction in nascent protein synthesis and lack of MECP2 was manifested as a severe defect in the activity of the AKT/mTOR pathway. Lack of MECP2 also leads to impaired mitochondrial function in mutant neurons. Activation of AKT/mTOR signaling by exogenous growth factors or by depletion of PTEN boosted protein synthesis and ameliorated disease phenotypes in mutant neurons. Our findings indicate a vital function for MECP2 in maintaining active gene transcription in human neuronal cells.
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16. Lynch F, Owen-Smith A, Bent S, Coleman K, Yau V, Pearson K, Crawford P, Massolo M, Freiman H, Pomichowski M, Croen L. {{PS1-14: Health-Related Quality of Life in Children with Autism Spectrum Disorders: Findings from the Mental Health Research Network Autism Registry Web Survey}}. {Clinical medicine & research}. 2013 Sep;11(3):166.
Background/Aims Approximately 1 in 88 children in the U.S. is diagnosed with Autism Spectrum Disorder (ASD). ASD is a complex disorder characterized by impairment in social skills, communication, and cognitive and behavioral functioning. In order for policy makers and clinical managers to evaluate new approaches to treating and managing ASD, they need brief comprehensive outcome measures. One approach that could be useful in this context is measurement of health-related quality of life (HR-QOL), which provides a comprehensive picture of health status including an individual’s psychosocial, emotional, and physical wellbeing. This comprehensive approach is particularly important in conditions such as ASD that have multiple impacts on a person’s health. Few previous studies have examined HR-QOL in persons with ASD, and most of these studies have used small samples. The purpose of this analysis is to examine HR-QOL in a group of geographically- and racially/ethnically-diverse children with ASD who are enrolled in the Mental Health Research Network (MHRN) Autism Registry. Methods A Web-based survey of parents of children with ASD was implemented at four MHRN Autism Registry sites, including children’s HR-QOL, measured by the Pediatric Quality of Life Inventory (PedsQLTM). The PedsQLTM provides an overall score, as well as subscales for important domains including physical health, psychosocial health, emotional functioning, social functioning, and school functioning. Results To date, recruitment letters have been mailed to approximately 8800 parents and 800 surveys have been completed. Preliminary analyses of respondents indicate that HR-QOL is lower in children with ASD compared to national norms. We will present the final results from the survey, which will conclude in November 2012. The presentation will examine the overall scores, scores on subscales, and scores by subgroup (e.g., age, gender, race) and will compare these scores to national norms. Conclusions We successfully implemented a Web-based survey of parents of children with ASD across four MHRN sites. With 800 completed surveys (recruitment will continue through November 2012), this is the largest known population-based survey on children with ASD to date. The current study will help to confirm results from smaller samples and will allow for more refined analyses of subgroups.
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17. Mazurek MO. {{Loneliness, friendship, and well-being in adults with autism spectrum disorders}}. {Autism}. 2013 Oct 3.
This study examined the relations among loneliness, friendship, and emotional functioning in adults (N = 108) with autism spectrum disorders. Participants completed self-report measures of symptoms of autism spectrum disorders, loneliness, number and nature of friendships, depression, anxiety, life satisfaction, and self-esteem. The results indicated that loneliness was associated with increased depression and anxiety and decreased life satisfaction and self-esteem, even after controlling for symptoms of autism spectrum disorders. In addition, greater quantity and quality of friendships were associated with decreased loneliness among adults with autism spectrum disorders. Multivariate models indicated that friendship did not moderate the relationship between loneliness and well-being; however, number of friends provided unique independent effects in predicting self-esteem, depression, and anxiety above and beyond the effects of loneliness. This was the first study to examine the relations among these aspects of social and emotional functioning in adults with autism spectrum disorders, and the results indicate that this topic warrants further clinical and research attention.
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18. Owen-Smith A, Bent S, Lynch F, Coleman K, Yau V, Freiman H, Pearson K, Massolo M, Pomichowski M, Croen L. {{PS2-47: Complementary and Alternative Medicine Use Among Children with Autism Spectrum Disorders: Findings from the Mental Health Research Network Autism Registry Web Survey}}. {Clinical medicine & research}. 2013 Sep;11(3):163.
Background/Aims Approximately 1 in 88 children in the U.S. are diagnosed with Autism Spectrum Disorder (ASD). Unfortunately, there is no identified etiology or definitive cure for ASD. Therefore, it is not surprising that many parents turn to complementary and alternative medicine (CAM) therapies for their affected children. Prior studies have suggested that CAM use is common in this population; however, these studies have been limited by small samples and an inability to assess response rates. The purpose of this analysis is to examine the prevalence and correlates of CAM use among a group of geographically- and racially/ethnically-diverse children with ASD who are enrolled in the Mental Health Research Network (MHRN) Autism Registry. Methods A web-based survey of parents of children with ASD was implemented at 4 MHRN Autism Registry sites in order to obtain information not available in health plan databases including parents’ use of CAM. Parents were asked to report what CAM therapies they have ever used/used within the past 3 months, what they have paid for these therapies and the degree to which they perceived them as harmful or helpful. The domains of CAM therapies on the survey included natural products (e.g., vitamins), mind-body medicine (e.g., acupuncture) and manipulative/body-based practices (e.g., chiropractic). Results To date, approximately 8800 recruitment letters have been mailed and 800 surveys have been completed. Findings related to the prevalence of CAM use among this population, in addition to the correlates of CAM use (including socio-demographics, age at diagnosis, severity of ASD, medical co-morbidities, health care utilization and parental satisfaction with care) will be presented. Conclusions We were able to successfully implement a web-based survey of parents of children with ASD across 4 MHRN sites. With 800 completed surveys (recruitment will continue through November 2012 and thus this number is expected to increase), this is the largest known population-based survey on CAM use in a population with ASD to date. Prior studies indicate that CAM use among this population is common; therefore, it is critical that providers understand this phenomenon so they can help families make well-informed health care decisions and prevent possible CAM-drug interactions.
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19. Pisula E, Kawa R, Szostakiewicz L, Lucka I, Kawa M, Rynkiewicz A. {{Autistic Traits in Male and Female Students and Individuals with High Functioning Autism Spectrum Disorders Measured by the Polish Version of the Autism-Spectrum Quotient}}. {PloS one}. 2013;8(9):e75236.
So far no standardized screening instrument for autism spectrum disorders for adults has been developed in Poland. The main aim of the study was to explore the properties of the Polish version of the Autism-Spectrum Quotient (AQ), especially its reliability and discriminating power. The second purpose was to establish whether the pattern of sex and area of study differences in the amount of autistic traits found in other countries also exist in Poland. The groups in the study included students (n = 2819), adults with ASD (n = 60) and a non-clinical sample (n = 60) matched with the ASD group for age, sex, education and place of residence. The Polish version of AQ proved to be reliable, although – as in studies conducted in other countries – the internal consistency coefficients for subscales (with exception for social skill) were low. ASD diagnosis was the most powerful determinant of AQ scores. Sex differences in autistic traits and a relationship between autistic traits and area of study were found.
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20. Poultney CS, Goldberg AP, Drapeau E, Kou Y, Harony-Nicolas H, Kajiwara Y, De Rubeis S, Durand S, Stevens C, Rehnstrom K, Palotie A, Daly MJ, Ma’ayan A, Fromer M, Buxbaum JD. {{Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder}}. {American journal of human genetics}. 2013 Oct 3;93(4):607-19.
Copy number variation (CNV) is an important determinant of human diversity and plays important roles in susceptibility to disease. Most studies of CNV carried out to date have made use of chromosome microarray and have had a lower size limit for detection of about 30 kilobases (kb). With the emergence of whole-exome sequencing studies, we asked whether such data could be used to reliably call rare exonic CNV in the size range of 1-30 kilobases (kb), making use of the eXome Hidden Markov Model (XHMM) program. By using both transmission information and validation by molecular methods, we confirmed that small CNV encompassing as few as three exons can be reliably called from whole-exome data. We applied this approach to an autism case-control sample (n = 811, mean per-target read depth = 161) and observed a significant increase in the burden of rare (MAF </=1%) 1-30 kb CNV, 1-30 kb deletions, and 1-10 kb deletions in ASD. CNV in the 1-30 kb range frequently hit just a single gene, and we were therefore able to carry out enrichment and pathway analyses, where we observed enrichment for disruption of genes in cytoskeletal and autophagy pathways in ASD. In summary, our results showed that XHMM provided an effective means to assess small exonic CNV from whole-exome data, indicated that rare 1-30 kb exonic deletions could contribute to risk in up to 7% of individuals with ASD, and implicated a candidate pathway in developmental delay syndromes.
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21. Scott O, Richer L, Forbes K, Sonnenberg L, Currie A, Eliyashevska M, Goez HR. {{Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis: An Unusual Cause of Autistic Regression in a Toddler}}. {Journal of child neurology}. 2013 Oct 3.
Anti N-methyl-d-aspartate (NMDA) receptor encephalitis in children is associated with psychiatric changes, seizures, and dyskinesias. We present the first report of autistic regression in a toddler caused by this entity. A 33-month-old boy presented with decreased appetite, irritability, and insomnia following an upper respiratory tract infection. Over the next few weeks he lost language and social skills, and abnormal movements of his hand developed. Within a month, this patient came to fit the diagnostic criteria for autistic spectrum disorder. Upon investigation, anti-NMDA receptor antibodies were found in the boy’s cerebrospinal fluid. He was treated with intravenous immunoglobulins and steroids, resulting in reacquisition of language and social skills and resolution of movements. Our case emphasizes the significance of suspecting anti-NMDA receptor encephalitis as the cause of autistic regression, even in an age group where the diagnosis of autistic spectrum disorder is typically made, and especially when presentation follows a febrile illness.
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22. Sharma S, Woolfson LM, Hunter SC. {{Maladaptive cognitive appraisals in children with high-functioning autism: Associations with fear, anxiety and theory of mind}}. {Autism}. 2013 Oct 3.
Despite the well-documented success of cognitive restructuring techniques in the treatment of anxiety disorders, there is still little clarity on which cognitions underpin fear and anxiety in children with high-functioning autism spectrum disorder. This study examined whether certain cognitive appraisals, known to be associated with fear and anxiety in typically developing groups, may help explain these emotions in children with high-functioning autism spectrum disorder. It also investigated relations between these cognitive appraisals and theory of mind. Appraisals, fear and anxiety were assessed using a vignette approach in 22 children with high-functioning autism spectrum disorders and 22 typically developing children. The two groups differed significantly on all four appraisal types. Anxiety was negatively correlated with future expectancy and positively with problem-focused coping potential in the high-functioning autism spectrum disorder group but was not correlated with appraisals in the typically developing group. The two appraisals associated with fear were emotion-focused coping potential (in the high-functioning autism spectrum disorder group only) and self-accountability (in the typically developing group only). Linear regression analysis found that appraisals of emotion-focused coping potential, problem-focused coping potential and future expectancy were significant predictors of theory-of-mind ability in the high-functioning autism spectrum disorders group. These findings indicate that specific, problematic patterns of appraisal may characterise children with high-functioning autism spectrum disorders.
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23. Suren P, Bakken IJ, Lie KK, Schjolberg S, Aase H, Reichborn-Kjennerud T, Magnus P, Oyen AS, Svendsen BK, Aaberg KM, Andersen GL, Stoltenberg C. {{Differences across counties in the registered prevalence of autism, ADHD, epilepsy and cerebral palsy in Norway}}. {Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke}. 2013 Oct 1;133(18):1929-34.
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24. Tavassoli T, Miller LJ, Schoen SA, Nielsen DM, Baron-Cohen S. {{Sensory over-responsivity in adults with autism spectrum conditions}}. {Autism}. 2013 Oct 1.
Anecdotal reports and empirical evidence suggest that sensory processing issues are a key feature of autism spectrum conditions. This study set out to investigate whether adults with autism spectrum conditions report more sensory over-responsivity than adults without autism spectrum conditions. Another goal of the study was to identify whether autistic traits in adults with and without autism spectrum conditions were associated with sensory over-responsivity. Adults with (n = 221) and without (n = 181) autism spectrum conditions participated in an online survey. The Autism Spectrum Quotient, the Raven Matrices and the Sensory Processing Scale were used to characterize the sample. Adults with autism spectrum conditions reported more sensory over-responsivity than control participants across various sensory domains (visual, auditory, tactile, olfactory, gustatory and proprioceptive). Sensory over-responsivity correlated positively with autistic traits (Autism Spectrum Quotient) at a significant level across groups and within groups. Adults with autism spectrum conditions experience sensory over-responsivity to daily sensory stimuli to a high degree. A positive relationship exists between sensory over-responsivity and autistic traits. Understanding sensory over-responsivity and ways of measuring it in adults with autism spectrum conditions has implications for research and clinical settings.
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25. Valvo G, Baldini S, Brachini F, Apicella F, Cosenza A, Ferrari AR, Guerrini R, Muratori F, Romano MF, Santorelli FM, Tancredi R, Sicca F. {{Somatic Overgrowth Predisposes to Seizures in Autism Spectrum Disorders}}. {PloS one}. 2013;8(9):e75015.
BACKGROUND: Comorbidity of Autism Spectrum Disorders with seizures or abnormal EEG (Autism-Epilepsy Phenotype) suggests shared pathomechanisms, and might be a starting point to identify distinct populations within the clinical complexity of the autistic spectrum. In this study, we tried to assess whether distinct subgroups, having distinctive clinical hallmarks, emerge from this comorbid condition. METHODS: Two-hundred and six individuals with idiopathic Autism Spectrum Disorders were subgrouped into three experimental classes depending on the presence of seizures and EEG abnormalities. Neurobehavioral, electroclinical and auxological parameters were investigated to identify differences among groups and features which increase the risk of seizures. Our statistical analyses used ANOVA, post-hoc multiple comparisons, and the Chi-squared test to analyze continuous and categorical variables. A correspondence analysis was also used to decompose significant Chi-squared and reduce variables dimensions. RESULTS: The high percentage of children with seizures (28.2% of our whole cohort) and EEG abnormalities (64.1%) confirmed that the prevalence of epilepsy in Autism Spectrum Disorders exceeds that of the general population. Seizures were associated with severe intellectual disability, and not with autism severity. Interestingly, tall stature (without macrocephaly) was significantly associated with EEG abnormalities or later onset seizures. However, isolated macrocephaly was equally distributed among groups or associated with early onset seizures when accompanied by tall stature. CONCLUSIONS: Tall stature seems to be a phenotypic « biomarker » of susceptibility to EEG abnormalities or late epilepsy in Autism Spectrum Disorders and, when concurring with macrocephaly, predisposes to early onset seizures. Growth pattern might act as an endophenotypic marker in Autism-Epilepsy comorbidity, delineating distinct pathophysiological subtypes and addressing personalized diagnostic work-up and therapeutic approaches.
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26. Xu XJ, Shou XJ, Li J, Jia MX, Zhang JS, Guo Y, Wei QY, Zhang XT, Han SP, Zhang R, Han JS. {{Mothers of Autistic Children: Lower Plasma Levels of Oxytocin and Arg-Vasopressin and a Higher Level of Testosterone}}. {PloS one}. 2013;8(9):e74849.
BACKGROUND: Autism is a pervasive neurodevelopmental disorder,thought to be caused by a combination of genetic heritability and environmental risk factors. Some autistic-like traits have been reported in mothers of autistic children. We hypothesized that dysregulation of oxytocin (OXT), Arg-vasopressin (AVP) and sex hormones, found in autistic children, may also exist in their mothers. METHODS: We determined plasma levels of OXT (40 in autism vs. 26 in control group), AVP (40 vs. 17) and sex hormones (61 vs. 47) in mothers of autistic and normal children by enzyme immunoassay and radioimmunoassay, respectively and investigated their relationships with the children’s autistic behavior scores (Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC)). RESULTS: Significantly lower plasma concentrations of OXT (p<0.001) and AVP (p<0.001), as well as a higher level of plasma testosterone (p<0.05), were found in mothers of autistic children vs. those of control. The children’s autistic behavior scores were negatively associated with maternal plasma levels of OXT and AVP. CONCLUSIONS: These results suggest that dysregulation of OXT, AVP and/or testosterone systems exist in mothers of autistic children, which may impact children’s susceptibility to autism.
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27. Yau V, Lynch F, Madden J, Owen-Smith A, Coleman K, Bent S, Massolo M, Pearson K, Crawford P, Freiman H, Pomichowski M. {{PS1-13: Variation in the Incidence and Prevalence of Autism from Multiple Health Systems: Findings from the Mental Health Research Network Autism Registry Study}}. {Clinical medicine & research}. 2013 Sep;11(3):166.
Background/Aims Autism spectrum disorders (ASD) are characterized by impairments in social interaction and communication, as well as restricted, stereotyped interests and behaviors. A recent study found that approximately 1 in 88 children in the U.S. were diagnosed with an ASD and that prevalence varied widely among different demographic groups. The goals of this study were to obtain accurate prevalence and incidence statistics for ASD across several large, diverse health systems and to describe the variation of these statistics across demographic factors. Methods All members within the five participating health systems born between January 1, 1993 and December 31, 2008 with electronic claims, enrollment, or medical record information were included in the study. Information on member demographics and ASD subtypes were collected from earliest available records at each site through the end of December 31, 2010. Individuals with an ASD diagnosis from an ASD specialist or two or more ASD diagnoses from non-specialists were defined as valid cases. Results A preliminary examination of data from one site (N = 1,271,823) found 10,114 individuals <18 years ever diagnosed with an ASD. Of those 10,114 ASD cases, 8,085 met the validation criteria and were included in final analyses. Prevalence of all ASDs in children </=8 years old was 1.1/1000 in 2001 (1 in 909 children) and increased steadily to 7.1/1000 in 2010 (1 in 141 children). Prevalence specifically for autistic disorder (AD), a more severe subtype, in children </=8 years old was 0.3/1000 in 2001 and increased to 1.9/1000 in 2010. Similar secular increases were noted for incidence. Prevalence and incidence varied greatly among demographic groups. Prevalence of all ASDs in 2010 was 8.4/1000 among Whites, 7.1/1000 among Blacks, and 10.6/1000 among Asians. Prevalence of ASDs among females was lower than among males in all years (2010 males: 11.2/1000, 2010 females: 2.8/1000). Conclusions This study provides up-to-date prevalence and incidence information from a group of large, diverse, community-based settings. Incidence and prevalence differed across racial groups and sex status. Strong increasing trends in the diagnosis of ASDs in general, as well as the AD subtype, were observed.
