Pubmed du 03/05/14

Pubmed du jour

2014-05-03 12:03:50

1. {{Committee opinion no. 597: labor induction or augmentation and autism}}. {Obstet Gynecol};2014 (May);123(5):1140-1142.

: Functional oxytocin deficiency and a faulty oxytocin signaling pathway have been observed in conjunction with autism spectrum disorder (ASD). Because exogenous synthetic oxytocin commonly is administered for labor induction and augmentation, some have hypothesized that synthetic oxytocin used for these purposes may alter fetal oxytocin receptors and predispose exposed offspring to ASD. However, current evidence does not identify a causal relationship between labor induction or augmentation in general, or oxytocin labor induction specifically, and autism or ASD. Recognizing the limitations of available study design, conflicting data, and the potential consequences of limiting labor induction and augmentation, the Committee on Obstetric Practice recommends against a change in current guidance regarding counseling and indications for and methods of labor induction and augmentation.

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2. Antshel K. {{Autism traits may be more prevalent in ADHD than previously reported}}. {Evid Based Ment Health};2014 (Apr 30)

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3. Ashburner JK, Rodger SA, Ziviani JM, Hinder EA. {{Optimizing participation of children with autism spectrum disorder experiencing sensory challenges: a clinical reasoning framework}}. {Can J Occup Ther};2014 (Feb);81(1):29-38.

BACKGROUND: Remedial sensory interventions currently lack supportive evidence and can be challenging to implement for families and clinicians. It may be timely to shift the focus to optimizing participation of children with autism spectrum disorders (ASD) through accommodation and self-regulation of their sensory differences. PURPOSE: A framework to guide practitioners in selecting strategies is proposed based on clinical reasoning considerations, including (a) research evidence, (b) client- and family-centredness, (c) practice contexts, (d) occupation-centredness, and (e) risks. KEY ISSUES: Information-sharing with families and coaching constitute the basis for intervention. Specific strategies are identified where sensory aversions or seeking behaviours, challenges with modulation of arousal, or sensory-related behaviours interfere with participation. Self-regulatory strategies are advocated. The application of universal design principles to shared environments is also recommended. IMPLICATIONS: The implications of this framework for future research, education, and practice are discussed. The clinical utility of the framework now needs to be tested.

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4. Bagatell NJ, Cram M, Alvarez CG, Loehle L. {{Routines of families with adolescents with autistic disorders: a comparison study}}. {Can J Occup Ther};2014 (Feb);81(1):62-67.

BACKGROUND: Research has consistently shown that families with children with autism spectrum disorders (ASD) have difficulty engaging in family routines, yet little is known about families with adolescents with ASD. PURPOSE: The purpose of this study is to compare the routines of families with adolescents with ASD (FASD) and families with typically developing adolescents. METHOD: Twenty families in each group were compared using the Family Routines Inventory and supplemental questions. Data were analyzed using a Mann-Whitney U and content analysis. FINDINGS: No significant difference between groups was found; however, there was a trending toward significance in the subscale of mealtime routines in both endorsement and adherence. Analysis of open-ended questions revealed differences in how routines were carried out. IMPLICATIONS: Occupational therapists should consider assessing and addressing routines of importance to FASD to increase family health and well-being. Further research is needed to better understand the routines of FASD.

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5. Betts KS. {{Clues to autistic behaviors: exploring the role of endocrine disruptors}}. {Environ Health Perspect};2014 (May 1);122(5):A137.

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6. Boon-Yasidhi V, Jearnarongrit P, Tulayapichitchock P, Tarugsa J. {{Adverse effects of risperidone in children with autism spectrum disorders in a naturalistic clinical setting at siriraj hospital, Thailand}}. {Psychiatry J};2014;2014:136158.

A cross-sectional study was conducted to evaluate adverse effects associated with risperidone in 45 children with autism spectrum disorders (ASD), aged 2-15 years, who were treated at Siriraj Hospital, Thailand, between the years 2006 and 2007. Adverse effects were assessed by parent interview, using a semistructure questionnaire, and medical records review. The mean +/- SD age of the children at starting risperidone was 8.15 +/- 2.98 years. The mean +/- SD of risperidone dose was 0.94 +/- 0.74 mg/day and the mean +/- SD duration of treatment was 36.8 +/- 27.8 months. Adverse effects were reported in 39 children (86.7%). Common adverse effects included increased appetite, somnolence, and rhinorrhea and most of the adverse effects were tolerable. Tardive dyskinesia or other serious adverse events were not found in this study. The child’s mean +/- SD weight gain was 4.18 +/- 2.82 kg/year, which exceeded developmentally expected norms. The results from this study suggest that risperidone treatment in children with ASD is associated with frequent mild and tolerable adverse effects. However, excessive weight gain could be found to be a concerning adverse effect and weight monitoring is warranted when risperidone is being prescribed.

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7. Cuesta-Vargas A, Gine-Garriga M. {{Development of a new index of balance in adults with intellectual and developmental disabilities}}. {PLoS One};2014;9(5):e96529.

PURPOSES: The first objective was to propose a new model representing the balance level of adults with intellectual and developmental disabilities (IDD) using Principal Components Analysis (PCA); and the second objective was to use the results from the PCA recorded by regression method to construct and validate summative scales of the standardized values of the index, which may be useful to facilitate a balance assessment in adults with IDD. METHODS: A total of 801 individuals with IDD (509 males) mean 33.1+/-8.5 years old, were recruited from Special Olympic Games in Spain 2009 to 2012. The participants performed the following tests: the timed-stand test, the single leg stance test with open and closed eyes, the Functional Reach Test, the Expanded Timed-Get-up-and-Go Test. Data was analyzed using principal components analysis (PCA) with Oblimin rotation and Kaiser normalization. We examined the construct validity of our proposed two-factor model underlying balance for adults with IDD. The scores from PCA were recorded by regression method and were standardized. RESULTS: The Component Plot and Rotated Space indicated that a two-factor solution (Dynamic and Static Balance components) was optimal. The PCA with direct Oblimin rotation revealed a satisfactory percentage of total variance explained by the two factors: 51.6 and 21.4%, respectively. The median score standardized for component dynamic and static of the balance index for adults with IDD is shown how references values. CONCLUSIONS: Our study may lead to improvements in the understanding and assessment of balance in adults with IDD. First, it confirms that a two-factor model may underlie the balance construct, and second, it provides an index that may be useful for identifying the balance level for adults with IDD.

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8. Gerber A, Morrow E, Sheinkopf S, Anders T. {{The Rhode Island Consortium for Autism Research and Treatment (RI-CART): A New Statewide Autism Collaborative}}. {R I Med J (2013)};2014;97(5):31-34.

Autism is a neurodevelopmental disorder characterized by core deficits in social interaction, language and repetitive behaviors. The need for services is rising sharply as the number of children identified with autism increases. The Rhode Island Consortium for Autism Research and Treatment (RI-CART) was founded in 2009 with the goal of increasing communication among autism researchers throughout the state and improving treatment for children with autism. RI-CART members have several exciting projects in progress, with its larger aim being the creation of a statewide research registry. A statewide registry would benefit research in Rhode Island and allow for larger collaborations nationally. [Full text available at http://rimed.org/rimedicaljournal-2014-05.asp, free with no login].

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9. Giarelli E, Nocera R, Turchi R, Hardie TL, Pagano R, Yuan C. {{Sensory stimuli as obstacles to emergency care for children with autism spectrum disorder}}. {Adv Emerg Nurs J};2014 (Apr);36(2):145-163.

Visits to the emergency department (ED) are stressful for any patient and pose special challenges and potential barriers to care for those with autism spectrum disorder (ASD). In addition, people (both children and adults) with ASD differ in their perception of, or responses to, environmental stimuli. Some people with ASD present with sensory defensiveness that is environmentally moderated, but there is a gap in our knowledge about patterns or thresholds of stimulation that kindle behavioral responses. We systematically recorded visual and auditory stimuli in an ED. Data were collected in four areas, hallway, doorway of waiting room, chair in waiting room, and treatment room, over several weeks and times of day. The mean light intensity ranged from 127 to 184 lux. There were significant differences (F = 16.77, df = 3, p > 0.001) between the five ED locations. Mean sound levels ranged from a high of 63.291 dB in the waiting room chair to a low of 51.289 dB in the treatment room. The highest consistent level of noise was recorded while sitting in the waiting room chair (60.657-63.291 dB). The findings suggest significant differences in light and sound intensity in common ED locations, with the highest mean readings of light and noise in the waiting areas. The differences and descriptions of light and sound patterns support the need for additional studies in both the measurement of the ED environment and its role in stimulating sensory defensiveness in people with ASD.

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10. Gillespie-Smith K, Fletcher-Watson S. {{Designing AAC Systems for Children with Autism: Evidence from Eye Tracking Research}}. {Augment Altern Commun};2014 (Apr 30)
Autism is associated with a range of language difficulties that impact communication, behaviour management, and education. Consequently, a variety of augmentative and alternative communication (AAC) strategies may be employed to support people with autism to communicate. There is a growing body of evidence concerning the visual attention of individuals with autism, which may be relevant to AAC interventions. This review draws on evidence from eye tracking research specifically to inform the design of AAC systems for people with autism. In addition, we discuss the future of AAC for individuals with autism in light of relevant technological developments, and raise questions for future research.

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11. Groh M, Lufino MM, Wade-Martins R, Gromak N. {{R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome}}. {PLoS Genet};2014 (May);10(5):e1004318.

Friedreich ataxia (FRDA) and Fragile X syndrome (FXS) are among 40 diseases associated with expansion of repeated sequences (TREDs). Although their molecular pathology is not well understood, formation of repressive chromatin and unusual DNA structures over repeat regions were proposed to play a role. Our study now shows that RNA/DNA hybrids (R-loops) form in patient cells on expanded repeats of endogenous FXN and FMR1 genes, associated with FRDA and FXS. These transcription-dependent R-loops are stable, co-localise with repressive H3K9me2 chromatin mark and impede RNA Polymerase II transcription in patient cells. We investigated the interplay between repressive chromatin marks and R-loops on the FXN gene. We show that decrease in repressive H3K9me2 chromatin mark has no effect on R-loop levels. Importantly, increasing R-loop levels by treatment with DNA topoisomerase inhibitor camptothecin leads to up-regulation of repressive chromatin marks, resulting in FXN transcriptional silencing. This provides a direct molecular link between R-loops and the pathology of TREDs, suggesting that R-loops act as an initial trigger to promote FXN and FMR1 silencing. Thus R-loops represent a common feature of nucleotide expansion disorders and provide a new target for therapeutic interventions.

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12. Heitzer AM, Job MA, Pandit NK, Valdovinos MG. {{Should Clinical Trial Research of Psychotropic Medication in Autism Control for Gastrointestinal Symptoms?}}. {J Clin Pharmacol};2014 (May 1)
Recent research has established that many children and adult diagnosed with autism experience gastrointestinal symptoms. Furthermore, research has demonstrated that gastrointestinal symptoms can impact drug availability and absorption. In this paper we explore the presence of gastrointestinal symptoms in autism and put forth a call for a formal evaluation of the potential relationship between gastrointestinal symptoms and psychotropic medication effectiveness in individuals with autism.

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13. Johnson RA, Danis M, Hafner-Eaton C. {{US state variation in autism insurance mandates: Balancing access and fairness}}. {Autism};2014 (Apr 30)
This article examines how nations split decision-making about health services between federal and sub-federal levels, creating variation between states or provinces. When is this variation ethically acceptable? We identify three sources of ethical acceptability-procedural fairness, value pluralism, and substantive fairness-and examine these sources with respect to a case study: the fact that only 30 out of 51 US states or territories passed mandates requiring private insurers to offer extensive coverage of autism behavioral therapies, creating variation for privately insured children living in different US states. Is this variation ethically acceptable? To address this question, we need to analyze whether mandates go to more or less needy states and whether the mandates reflect value pluralism between states regarding government’s role in health care. Using time-series logistic regressions and data from National Survey of Children with Special Health Care Needs, Individual with Disabilities Education Act, legislature political composition, and American Board of Pediatrics workforce data, we find that the states in which mandates are passed are less needy than states in which mandates have not been passed, what we call a cumulative advantage outcome that increases between-state disparities rather than a compensatory outcome that decreases between-state disparities. Concluding, we discuss the implications of our analysis for broader discussions of variation in health services provision.

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14. Lobar SL. {{Family adjustment across cultural groups in autistic spectrum disorders}}. {ANS Adv Nurs Sci};2014 (Apr-Jun);37(2):174-186.

This pilot ethnomethodological study examined perceptions of parents/caregivers of children diagnosed with autistic spectrum disorders concerning actions, norms, understandings, and assumptions related to adjustment to this chronic illness. The sample included 14 caregivers (75% Hispanic of various ethnic groups). Maximum variation sampling was used to compare participants on variables that were inductively derived via constant comparative methods of analysis. The following action categories emerged: « Seeking Diagnosis, » « Engaging in Routines to Control behavior, » « Finding Therapies (Types of Therapies), » « Finding School Accommodations, » « Educating Others, » « Rising to Challenges, » and « Finding the Role of Spiritual and Religious Belief. »

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15. Mari-Bauset S, Zazpe I, Mari-Sanchis A, Llopis-Gonzalez A, Morales-Suarez-Varela M. {{Evidence of the Gluten-Free and Casein-Free Diet in Autism Spectrum Disorders: A Systematic Review}}. {J Child Neurol};2014 (Apr 30)
In autism spectrum disorders, many parents resort to alternative treatments and these are generally perceived as risk free. Among these, the most commonly used is the gluten-free, casein-free diet. The objective of this work was to conduct a systematic review of studies published from 1970 to date related to the gluten-free, casein-free diet in autism spectrum disorder patients. Few studies can be regarded as providing sound scientific evidence since they were blinded randomized controlled trials, and even these were based on small sample sizes, reducing their validity. We observed that the evidence on this topic is currently limited and weak. We recommend that it should be only used after the diagnosis of an intolerance or allergy to foods containing the allergens excluded in gluten-free, casein-free diets. Future research should be based on this type of design, but with larger sample sizes.

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16. McCormick C, Hessl D, Macari SL, Ozonoff S, Green C, Rogers SJ. {{Electrodermal and Behavioral Responses of Children With Autism Spectrum Disorders to Sensory and Repetitive Stimuli}}. {Autism Res};2014 (Apr 30)
Parents frequently report that their children with autism spectrum disorders (ASD) respond atypically to sensory stimuli. Repetitive behaviors are also part of the ASD behavioral profile. Abnormal physiological arousal may underlie both of these symptoms. Electrodermal activity (EDA) is an index of sympathetic nervous system arousal. The goals of this study were twofold: (1) to pilot methods for collecting EDA data in young children and (2) to examine hypothesized relationships among EDA, and sensory symptoms and repetitive behaviors in children with ASD as compared with children with typical development. EDA was recorded on 54 young children with ASD and on 33 children with typical development (TD) during a protocol that included baseline, exposure to sensory and repetitive stimuli, and play. Parents completed standardized questionnaires regarding their child’s sensory symptoms and repetitive behaviors. Frequency and type of repetitive behavior during play was coded offline. Comparisons between EDA data for ASD and TD groups indicated no significant between-group differences in any measures. Parents of children with ASD reported more abnormal responses to sensory stimuli and more repetitive behaviors, but scores on these measures were not significantly correlated with EDA or with frequency of observed repetitive behaviors. Parent report of frequency and severity of sensory symptoms was significantly correlated with reports of repetitive behaviors in both groups. Although parents of children with ASD report high levels of sensory symptoms and repetitive behaviors, these differences are not related to measured EDA arousal or reactivity. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.

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17. McLay L, Church J, Sutherland D. {{Variables affecting the emergence of untaught equivalence relations in children with and without autism}}. {Dev Neurorehabil};2014 (Apr 30)
Abstract Objective: This study examined the formation of equivalence classes among children with ASD and typically developing children. Design: A single-subject AB and BA design was used. Methods: Two of the six equivalence relations were taught. Participants were then tested to determine whether the remaining four equivalence relations were acquired without teaching. Half of the children were taught naming responses first, then selecting responses. Half were taught in the reverse order. Results: Five out of 10 participants with ASD demonstrated the emergence of all four untaught relations. The remaining five participants showed variability. Nine of the 10 typically developing children demonstrated emergence of all untaught relations. Variation in teaching conditions had no significant effect on outcomes. Conclusions: Many children with ASD are capable of generalising to untaught equivalence relations. The results fail to support the claim that acquisition of naming responses is a pre-requisite for the emergence of untaught equivalence relations.

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18. Ostuzzi G, Barbui C. {{Autism spectrum disorders: weighing the risk of SSRI exposure in pregnancy}}. {Epidemiol Psychiatr Sci};2014 (May 1):1-3.

A possible link between prenatal exposure to the selective serotonin reuptake inhibitors (SSRIs) and development of autism spectrum disorders (ASDs), previously suggested by two case-control studies, was not confirmed by a recent cohort study that followed for 5-10 years more than 600,000 births. However, this study failed to demonstrate that SSRI exposure during pregnancy is safe in terms of child development outcomes, as an increased risk of ASDs cannot be completely ruled out. In the present article, the main strengths and weaknesses of this study are briefly analysed, including a possibility of confounding by indication.

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19. Pellicano E, Dinsmore A, Charman T. {{What should autism research focus upon? Community views and priorities from the United Kingdom}}. {Autism};2014 (Apr 30)
The rise in the measured prevalence of autism has been accompanied by much new research and research investment internationally. This study sought to establish whether the pattern of current UK autism research funding maps on to the concerns of the autism community. Interviews and focus groups were conducted with autistic adults, family members, practitioners and researchers to identify their priorities for research. We also captured the views of a large number of stakeholders via an online survey. There was a clear disparity between the United Kingdom’s pattern of funding for autism research and the priorities articulated by the majority of participants. There was general consensus that future priorities for autism research should lie in those areas that make a difference to people’s day-to-day lives. There needs to be greater involvement of the autism community both in priority setting and in research more broadly to ensure that resources reach where they are most needed and can make the most impact.

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20. Tavassoli T, Hoekstra RA, Baron-Cohen S. {{The Sensory Perception Quotient (SPQ): development and validation of a new sensory questionnaire for adults with and without autism}}. {Mol Autism};2014;5:29.

BACKGROUND: Questionnaire-based studies suggest atypical sensory perception in over 90% of individuals with autism spectrum conditions (ASC). Sensory questionnaire-based studies in ASC mainly record parental reports of their child’s sensory experience; less is known about sensory reactivity in adults with ASC. Given the DSM-5 criteria for ASC now include sensory reactivity, there is a need for an adult questionnaire investigating basic sensory functioning. We aimed to develop and validate the Sensory Perception Quotient (SPQ), which assesses basic sensory hyper- and hyposensitivity across all five modalities. METHODS: A total of 359 adults with (n = 196) and without (n = 163) ASC were asked to fill in the SPQ, the Sensory Over-Responsivity Inventory (SensOR) and the Autism-Spectrum Quotient (AQ) online. RESULTS: Adults with ASC reported more sensory hypersensitivity on the SPQ compared to controls (P < .001). SPQ scores were correlated with AQ scores both across groups (r = .-38) and within the ASC (r = -.18) and control groups (r = -.15). Principal component analyses conducted separately in both groups indicated that one factor comprising 35 items consistently assesses sensory hypersensitivity. The SPQ showed high internal consistency for both the total SPQ (Cronbach’s alpha = .92) and the reduced 35-item version (alpha = .93). The SPQ was significantly correlated with the SensOR across groups (r = -.46) and within the ASC (r = -.49) and control group (r = -.21). CONCLUSIONS: The SPQ shows good internal consistency and concurrent validity and differentiates between adults with and without ASC. Adults with ASC report more sensitivity to sensory stimuli on the SPQ. Finally, greater sensory sensitivity is associated with more autistic traits. The SPQ provides a new tool to measure individual differences on this dimension.

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21. Webb SJ. {{Multiple neonatal factors associated with autism spectrum disorders in infants}}. {Evid Based Ment Health};2014 (Apr 30)

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22. Wijetunge LS, Angibaud J, Frick A, Kind PC, Nagerl UV. {{Stimulated Emission Depletion (STED) Microscopy Reveals Nanoscale Defects in the Developmental Trajectory of Dendritic Spine Morphogenesis in a Mouse Model of Fragile X Syndrome}}. {J Neurosci};2014 (Apr 30);34(18):6405-6412.

Dendritic spines are basic units of neuronal information processing and their structure is closely reflected in their function. Defects in synaptic development are common in neurodevelopmental disorders, making detailed knowledge of age-dependent changes in spine morphology essential for understanding disease mechanisms. However, little is known about the functionally important fine-morphological structures, such as spine necks, due to the limited spatial resolution of conventional light microscopy. Using stimulated emission depletion microscopy (STED), we examined spine morphology at the nanoscale during normal development in mice, and tested the hypothesis that it is impaired in a mouse model of fragile X syndrome (FXS). In contrast to common belief, we find that, in normal development, spine heads become smaller, while their necks become wider and shorter, indicating that synapse compartmentalization decreases substantially with age. In the mouse model of FXS, this developmental trajectory is largely intact, with only subtle differences that are dependent on age and brain region. Together, our findings challenge current dogmas of both normal spine development as well as spine dysgenesis in FXS, highlighting the importance of super-resolution imaging approaches for elucidating structure-function relationships of dendritic spines.

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