1. Bardoni B, Capovilla M, Lalli E. {{Modeling Fragile X syndrome in neurogenesis: An unexpected phenotype and a novel tool for future therapies}}. {Neurogenesis (Austin)};2017;4(1):e1270384.
FMRP is an RNA-binding protein involved in synaptic translation. Its absence causes a form of intellectual disability, the Fragile X syndrome (FXS). Small neuroanatomical abnormalities, present both in human and mouse FMRP-deficient brains, suggest a subtle critical role of this protein in neurogenesis. Stable depletion of FMRP has been obtained in a mouse embryonic stem cell line Fmr1 (shFmr1 ES) that does not display morphological alterations, but an abnormal expression of a subset of genes mainly involved in neuronal differentiation and maturation. Inducing the differentiation of shFmr1 ES cells into the neuronal lineage results in an accelerated generation of neural progenitors and neurons during the first steps of neurogenesis. This transient phenotype is due to an elevated level of the Amyloid Precursor Protein (APP), whose mRNA is a target of FMRP. APP is processed by the BACE-1 enzyme, producing the beta-amyloid (Abeta) peptide accelerating neurogenesis by activating the expression of Ascll. Inhibition of the BACE-1 enzyme rescues the phenotype of shFmr1 ES cells. Here we discuss the importance of the shFmr1 ES line not only to understand the physiopathology of FXS but also as a tool to screen biomolecules for new FXS therapies.
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2. Beig A, Fine-Shamir N, Lindley D, Miller JM, Dahan A. {{Advantageous Solubility-Permeability Interplay When Using Amorphous Solid Dispersion (ASD) Formulation for the BCS Class IV P-gp Substrate Rifaximin: Simultaneous Increase of Both the Solubility and the Permeability}}. {AAPS J};2017 (Feb 15)
Rifaximin is a BCS class IV (low-solubility, low-permeability) drug and also a P-gp substrate. The aims of this work were to assess the efficiency of different rifaximin amorphous solid dispersion (ASDs) formulations in achieving and maintaining supersaturation and to investigate the consequent solubility-permeability interplay. Spray-dried rifaximin ASDs were prepared with different hydrophilic polymers and their ability to achieve and maintain supersaturation was assessed. Then, rifaximin’s apparent intestinal permeability was investigated as a function of increasing supersaturation both in vitro using the parallel artificial membrane permeability assay (PAMPA) and in vivo using the single-pass rat intestinal perfusion (SPIP) model. The efficiency of the different ASDs to achieve and maintain supersaturation of rifaximin was found to be highly polymer dependent, and the copovidone/HPC-SL formulation was found to be superior to the other two, allowing supersaturation of 200x that of the crystalline solubility for 20 h. In vitro, rifaximin flux was increased and the apparent permeability was constant as a function of increasing supersaturation level. In vivo, on the other hand, absorption rate coefficient (k a) was first constant as a function of increasing supersaturation, but at 250x, the crystalline solubility k a was doubled, similar to the k a in the presence of the strong P-gp inhibitor GF120918. In conclusion, a new and favorable nature of solubility-permeability interplay was revealed in this work: delivering high supersaturation level of the BCS class IV drug rifaximin via ASD, thereby saturating the drugs’ P-gp-mediated efflux transport, led to the favorable unique win-win situation, where both the solubility and the permeability increased simultaneously.
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3. Bitsika V, Sharpley CF, Andronicos NM, Agnew LL. {{What worries parents of a child with Autism? Evidence from a biomarker for chronic stress}}. {Res Dev Disabil};2017 (Feb 12)
BACKGROUND: Previous studies have reported correlations between various aspects of the behaviour and symptomatology of children with Autism Spectrum Disorder (ASD) and their parents’ self-reports of stress via standardised scales. AIMS: To extend that literature, a physiological index of parental chronic stress was used instead of their self-reports-dysregulation of the Diurnal Rhythm (DR) of the Hypothalamic-Pituitary-Adrenal (HPA) axis. METHODS: A sample of 149 parents of a child with ASD provided salivary cortisol at the predicted time of daily maximum cortisol concentration and at a time of daily lower concentration. Adherence to the predicted DR was assessed via a dichotomous (present/not-present) as well as a continuous measure, and MANOVA and linear regression were used to detect significant associations between ASD-related variables in their children and parents’ DR. RESULTS: Identified only a single significant correlate of DR dysregulation in both statistical procedures-Self-Injurious Behaviour (SIB) exhibited by their child and observed by the parents. CONCLUSIONS AND IMPLICATIONS: These findings extend previous data using self-report indices of parental stress and should be included in parent-support settings to alert parents to the long-term health effects of the stress they experience in regard to their child’s SIB.
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4. Call NA, Mevers JL, McElhanon BO, Scheithauer MC. {{A MULTIDISCIPLINARY TREATMENT FOR ENCOPRESIS IN CHILDREN WITH DEVELOPMENTAL DISABILITIES}}. {J Appl Behav Anal};2017 (Feb 17)
Achieving continence of one’s bowel movements is a key step in development and failure to do so leads to many negative consequences. Treatments for encopresis appearing in the literature have employed behavioral strategies; medications such as suppositories, laxatives, or enemas; and in some studies a combination of these approaches. To date, attempts to extend successful treatments for encopresis in typically developing children to those with developmental disabilities have been limited. The current study included three participants diagnosed with developmental disabilities who had a history of encopresis. None of the participants had a continent bowel movement under baseline conditions. Continent bowel movements increased during treatment that included the addition of suppositories to elicit continent bowel movements. Two participants began having independent continent bowel movements (i.e., without requiring suppositories) and medication was successfully faded out for the remaining participant. Treatment took between 13 and 21 days.
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5. Carter J, Broder-Fingert S, Neumeyer A, Giauque A, Kao A, Iyasere C. {{Brief Report: Meeting the Needs of Medically Hospitalized Adults with Autism: A Provider and Patient Toolkit}}. {J Autism Dev Disord};2017 (Feb 17)
In an effort to meet the needs of adults with autism spectrum disorder (ASD) while hospitalized, a team of experts and providers from Massachusetts General Hospital (MGH), MGH for Children as well as parents of individuals with ASD was sparked in 2013. This became a multidisciplinary collaborative, the MGH Autism Care Collaborative, to improve adult care for inpatients with ASD. The collaborative was created with three goals in mind: (1) to educate internal medicine adult inpatient providers and staff on the unique needs of adults with ASD when hospitalized; (2) to create ASD specific resources for internal medicine adult inpatient providers; (3) to optimize patient care from admission to discharge among adults with ASD admitted to internal medicine services.
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6. Chao KY, Chang HL, Chin WC, Li HM, Chen SH. {{How Taiwanese parents of children with autism spectrum disorder experience the process of obtaining a diagnosis: A descriptive phenomenological analysis}}. {Autism};2017 (Feb 01):1362361316680915.
An autism spectrum disorder can result in considerable stress and confusion for parents as they attempt to understand their child’s problems and obtain a diagnosis. Few studies have explored the parental experience in the context of Chinese culture. The purpose of this study was to understand the experiences of parents in Taiwan of children diagnosed with autism spectrum disorder. In total, 15 parents, 1 father and 14 mothers, were recruited by purposive sampling. This qualitative study used semi-structured interviews and descriptive phenomenological analysis. The findings indicated that parents of children diagnosed with autism spectrum disorder underwent five coping experiences during the diagnostic process: (1) uncertainty and difficulty understanding their child’s behaviour, which occurred during the pre-diagnosis phase; (2) obligation to obtain professional services; (3) anxious searching for a second opinion, which occurred during the diagnosis phase; (4) acceptance and fortitude and (5) further adjustment during the post-diagnosis phase. Our findings add to our understanding of how parents experience the diagnostic process, which could improve medical professionals’ counselling and support for parents at the stage of obtaining a diagnosis for their children.
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7. Deacon RM, Hurley MJ, Rebolledo CM, Snape M, Altimiras FJ, Farias L, Pino M, Biekofsky R, Glass L, Cogram P. {{Nrf2, A Novel Therapeutic Target in Fragile X Syndrome is Modulated by NNZ2566}}. {Genes Brain Behav};2017 (Feb 17)
Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP). Among these disorders is fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autism. Progress in basic neuroscience has led to identification of molecular targets for treatment in FXS; however, there is a gap in translation to targeted therapies in humans. The present study introduces a novel therapeutic target for FXS: nuclear factor (erythroid-derived 2)-like 2 (Nrf2), a transcription factor known to induce expression of over 100 cytoprotective genes. We also demonstrate that NNZ2566, a drug that has successfully completed a phase 2 clinical trial in FXS, is effective in modulating this target in FXS, partially reversing the FXS phenotype: NNZ2566 has a therapeutic role as Nrf2 activator. Effectively, treatment with NNZ2566 normalizes the translocation of Nrf2 to the nucleus, inducing expression of numerous oxidative stress related genes including NQO1, GST-alpha1 and EH and has a knockdown effect on E-cadherin. In summary, the Nrf2/ARE pathway appears to be a novel promising therapeutic target for FXS and NNZ2566 appears to be acting as an activator of the Nrf2/ARE pathway and suggests a potential benefit across multiple symptoms that could be associated with the pathobiological processes underlying FXS.
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8. Diebo BG, Gammal I, Ha Y, Yoon SH, Chang JW, Kim B, Matsumoto M, Yamato Y, Takeuchi D, Hosogane N, Yagi M, Taneichi H, Schwab F, Lafage V, Ames C. {{Role of Ethnicity in Alignment Compensation: Propensity Matched Analysis of Differential Compensatory Mechanism Recruitment Patterns for Sagittal Malalignment in 288 ASD Patients From Japan, Korea, and United States}}. {Spine (Phila Pa 1976)};2017 (Feb 15);42(4):E234-E240.
STUDY DESIGN: Retrospective review of adult spinal deformity patients in a multiethnic database. OBJECTIVE: To investigate the role of ethnicity on recruitment of compensatory mechanisms for sagittal spinal deformity. SUMMARY OF BACKGROUND DATA: While the impacts of age, sex, and pelvic morphology on the ability to compensate for sagittal malalignment have been investigated, the role of ethnicity in compensatory mechanism recruitment is poorly understood. METHODS: Patients from USA (85% Caucasian) >25 y/o were propensity matched by age, sex, and pelvic incidence with patients from Korea and Japan. Only primary patients or those with existing fusion below T12 were retained for analysis. Groups were subclassified by deformity severity (aligned: sagittal vertical axis (SVA) <50 mm; moderate malalignment: SVA 50-100 mm; severe malalignment: SVA >100 mm). Radiographic measurements including pelvic retroversion, thoracic kyphosis, loss of lumbar lordosis (PI minus LL), cervical lordosis, and cervical SVA were compared between the groups. RESULTS: There were 288 patients (96 each in USA, KOR, JPN), with similar age (64-67 yr) and PI (49-53 degrees ). USA had smaller pelvic incidence minus lumbar lordosis in every alignment group (P <0.05). In moderate malalignment, JPN had more pelvic retroversion than USA (30 degrees vs. 20 degrees ), and KOR had more thoracic hypokyphosis than USA (15 vs. 31 degrees ). In severe malalignment, JPN had more pelvic retroversion than USA (39 degrees vs. 27 degrees ), and KOR had more thoracic hypokyphosis than USA (15 degrees vs. 31 degrees ). KOR had smaller cSVA than USA in both aligned (11 vs. 27 mm) and moderate (19 vs. 31 mm) malalignment. In severe malalignment, KOR had less cervical lordosis (13 degrees KOR vs. 15 degrees USA vs. 27 degrees JPN). All differences with P <0.05. CONCLUSION: Compensation for sagittal is ethnicity dependent. Korean patients favor thoracic compensation via hypokyphosis, and Japanese patients favor pelvic compensation via retroversion. Patient ethnicity should be considered when evaluating the sagittal plane and surgical correction strategies. LEVEL OF EVIDENCE: 3. Lien vers le texte intégral (Open Access ou abonnement)
9. Esposito G, Hiroi N, Scattoni ML. {{Cry, baby, cry: Expression of Distress as a Biomarker and Modulator in Autism Spectrum Disorder}}. {Int J Neuropsychopharmacol};2017 (Feb 15)
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10. Fingher N, Dinstein I, Ben-Shachar M, Haar S, Dale AM, Eyler L, Pierce K, Courchesne E. {{Toddlers later diagnosed with autism exhibit multiple structural abnormalities in temporal corpus callosum fibers}}. {Cortex};2017 (Jan 23)
Interhemispheric functional connectivity abnormalities are often reported in autism and it is thus not surprising that structural defects of the corpus callosum (CC) are consistently found using both traditional MRI and DTI techniques. Past DTI studies however, have subdivided the CC into 2 or 3 segments without regard for where fibers may project to within the cortex, thus placing limitations on our ability to understand the nature, timing and neurobehavioral impact of early CC abnormalities in autism. Leveraging a unique cohort of 97 toddlers (68 autism; 29 typical) we utilized a novel technique that identified seven CC tracts according to their cortical projections. Results revealed that younger (<2.5 years old), but not older toddlers with autism exhibited abnormally low mean, radial, and axial diffusivity values in the CC tracts connecting the occipital lobes and the temporal lobes. Fractional anisotropy and the cross sectional area of the temporal CC tract were significantly larger in young toddlers with autism. These findings indicate that water diffusion is more restricted and unidirectional in the temporal CC tract of young toddlers who develop autism. Such results may be explained by a potential overabundance of small caliber axons generated by excessive prenatal neural proliferation as proposed by previous genetic, animal model, and postmortem studies of autism. Furthermore, early diffusion measures in the temporal CC tract of the young toddlers were correlated with outcome measures of autism severity at later ages. These findings regarding the potential nature, timing, and location of early CC abnormalities in autism add to accumulating evidence, which suggests that altered inter-hemispheric connectivity, particularly across the temporal lobes, is a hallmark of the disorder. Lien vers le texte intégral (Open Access ou abonnement)
11. Haworth J, Kyvelidou A, Fisher W, Stergiou N. {{Indifference to Chaotic Motion May Be Related to Social Disinterest in Children With Autism}}. {J Mot Learn Dev};2016 (Dec);4(2):219-235.
Children with autism spectrum disorder tend to have little interest in the presence, actions, and motives of other persons. In addition, these children tend to present with a limited and overly redundant movement repertoire, often expressing hyperfixation and aversion to novelty. We explore whether this is related to a more fundamental lack of appreciation for various temporal dynamics, including periodic, chaotic, and aperiodic motion structures. Seven children with ASD (age, gender, and height matched with children without ASD) were asked to stand and watch the motion of a visual stimulus displayed on a large (55 ») video monitor. Gaze and posture movements were recorded and assessed using cross recurrence quantification analysis for qualities of coordination, including rate and duration of bouts of coordination. Results showed that children with ASD do not express an affinity to chaotic motion of the stimulus in the same way as children without ASD. We contend that this indifference to chaotic motion is foundational to their general disinterest in biological motion.
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12. Hazlett HC, Gu H, Munsell BC, Kim SH, Styner M, Wolff JJ, Elison JT, Swanson MR, Zhu H, Botteron KN, Collins DL, Constantino JN, Dager SR, Estes AM, Evans AC, Fonov VS, Gerig G, Kostopoulos P, McKinstry RC, Pandey J, Paterson S, Pruett JR, Schultz RT, Shaw DW, Zwaigenbaum L, Piven J. {{Early brain development in infants at high risk for autism spectrum disorder}}. {Nature};2017 (Feb 15);542(7641):348-351.
Brain enlargement has been observed in children with autism spectrum disorder (ASD), but the timing of this phenomenon, and the relationship between ASD and the appearance of behavioural symptoms, are unknown. Retrospective head circumference and longitudinal brain volume studies of two-year olds followed up at four years of age have provided evidence that increased brain volume may emerge early in development. Studies of infants at high familial risk of autism can provide insight into the early development of autism and have shown that characteristic social deficits in ASD emerge during the latter part of the first and in the second year of life. These observations suggest that prospective brain-imaging studies of infants at high familial risk of ASD might identify early postnatal changes in brain volume that occur before an ASD diagnosis. In this prospective neuroimaging study of 106 infants at high familial risk of ASD and 42 low-risk infants, we show that hyperexpansion of the cortical surface area between 6 and 12 months of age precedes brain volume overgrowth observed between 12 and 24 months in 15 high-risk infants who were diagnosed with autism at 24 months. Brain volume overgrowth was linked to the emergence and severity of autistic social deficits. A deep-learning algorithm that primarily uses surface area information from magnetic resonance imaging of the brain of 6-12-month-old individuals predicted the diagnosis of autism in individual high-risk children at 24 months (with a positive predictive value of 81% and a sensitivity of 88%). These findings demonstrate that early brain changes occur during the period in which autistic behaviours are first emerging.
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13. Kang JY, Chadchankar J, Vien TN, Mighdoll MI, Hyde TM, Mather RJ, Deeb TZ, Pangalos MN, Brandon NJ, Dunlop J, Moss SJ. {{Deficits in the activity of presynaptic gamma-Aminobutyric acid type B receptors contribute to altered neuronal excitability in Fragile X Syndrome}}. {J Biol Chem};2017 (Feb 17)
The behavioral and anatomical deficits seen in Fragile X syndrome (FXS) are widely believed to result from imbalances in the relative strengths of excitatory and inhibitory neurotransmission. While modified neuronal excitability is thought to be of significance, the contribution that alterations in GABAergic inhibition play in the pathophysiology of FXS are ill-defined. Slow sustained neuronal inhibition is mediated by gamma-aminobutyric acid type B (GABAB) receptors, which are heterodimeric G-protein coupled receptors constructed from R1a and R2 or R1b and R2 subunits. Via the activation of Gi/o they limit cAMP accumulation, diminish neurotransmitter release and induce neuronal hyperpolarization. Here we reveal selective deficits in R1a subunit expression are seen in Fmr1 knockout mice (KO) mice, a widely used animal model of FXS, but the levels of the respective mRNA was unaffected. Similar trends of R1a expression were seen in a subset of FXS patients. GABABRs exert powerful pre- and postsynaptic inhibitory effects on neurotransmission. R1a containing GABABRs are believed to mediate presynaptic inhibition in principal neurons. In accordance with this result, deficits in the ability of GABABRs to suppress glutamate release were seen in Fmr1-KO mice. In contrast, the ability of GABABRs to suppress GABA release and induce postsynaptic hyperpolarization was unaffected. Significantly, this deficit contributes to the pathophysiology of FXS as the GABABR agonist R-baclofen rescued the imbalances between excitatory and inhibitory neurotransmission evident in Fmr1-KO mice. Collectively, our results provided evidence that selective deficits in the activity of presynaptic GABABRs contribute to the pathophysiology of FXS.
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14. Kim KC, Cho KS, Yang SM, Gonzales EL, Valencia S, Eun PH, Choi CS, Mabunga DF, Kim JW, Noh JK, Kim HJ, Jeon SJ, Han SH, Bahn GH, Shin CY. {{Sex Differences in Autism-Like Behavioral Phenotypes and Postsynaptic Receptors Expression in the Prefrontal Cortex of TERT Transgenic Mice}}. {Biomol Ther (Seoul)};2017 (Feb 17)
Autism spectrum disorder (ASD) remains unexplained and untreated despite the high attention of research in recent years. Aside from its various characteristics is the baffling male preponderance over the female population. Using a validated animal model of ASD which is the telomerase reverse transcriptase overexpressing mice (TERT-tg), we conducted ASD-related behavioral assessments and protein expression experiments to mark the difference between male and females of this animal model. After statistically analyzing the results, we found significant effects of TERT overexpression in sociability, social novelty preference, anxiety, nest building, and electroseizure threshold in the males but not their female littermates. Along these differences are the male-specific increased expressions of postsynaptic proteins which are the NMDA and AMPA receptors in the prefrontal cortex. The vGluT1 presynaptic proteins, but not GAD, were upregulated in both sexes of TERT-tg mice, although it is more significantly pronounced in the male group. Here, we confirmed that the behavioral effect of TERT overexpression in mice was male-specific, suggesting that the aberration of this gene and its downstream pathways preferentially affect the functional development of the male brain, consistent with the male preponderance in ASD.
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15. Leaf JB, Cihon JH, Alcalay A, Mitchell E, Townley-Cochran D, Miller K, Leaf R, Taubman M, McEachin J. {{Instructive feedback embedded within group instruction for children diagnosed with autism spectrum disorder}}. {J Appl Behav Anal};2017 (Feb 17)
The present study evaluated the effects of instructive feedback embedded within a group discrete trial teaching to teach tact relations to nine children diagnosed with autism spectrum disorder using a nonconcurrent multiple-baseline design. Dependent variables included correct responses for: primary targets (directly taught), secondary targets (taught via instructive feedback), primary observational targets (directly taught to other members of the group), and secondary observational targets (taught via instructive feedback provided to other members of the group). Results showed that all nine participants reached the mastery criterion for the primary targets, as well as acquired the secondary and observational targets without direct teaching. Clinical implications and areas for future research are provided.
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16. Masi A, DeMayo MM, Glozier N, Guastella AJ. {{An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options}}. {Neurosci Bull};2017 (Feb 17)
Since the documented observations of Kanner in 1943, there has been great debate about the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known as autism spectrum disorder (ASD). Reflecting this complicated history, there has been continual refinement from DSM-III with ‘Infantile Autism’ to the current DSM-V diagnosis. The disorder is now widely accepted as a complex, pervasive, heterogeneous condition with multiple etiologies, sub-types, and developmental trajectories. Diagnosis remains based on observation of atypical behaviors, with criteria of persistent deficits in social communication and restricted and repetitive patterns of behavior. This review provides a broad overview of the history, prevalence, etiology, clinical presentation, and heterogeneity of ASD. Factors contributing to heterogeneity, including genetic variability, comorbidity, and gender are reviewed. We then explore current evidence-based pharmacological and behavioral treatments for ASD and highlight the complexities of conducting clinical trials that evaluate therapeutic efficacy in ASD populations. Finally, we discuss the potential of a new wave of research examining objective biomarkers to facilitate the evaluation of sub-typing, diagnosis, and treatment response in ASD.
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17. Modi ME, Sahin M. {{Translational use of event-related potentials to assess circuit integrity in ASD}}. {Nat Rev Neurol};2017 (Feb 17)
Deficits in social cognition are the defining characteristic of autism spectrum disorder (ASD). Social cognition requires the integration of several neural circuits in a time-sensitive fashion, so impairments in social interactions could arise as a result of alterations in network connectivity. Electroencephalography (EEG) has revealed abnormalities in event related potentials (ERPs) evoked by auditory and visual sensory stimuli in humans with ASD, indicating disruption of neural connectivity. Similar abnormalities in sensory-evoked ERPs have been observed in animal models of ASD, suggesting that ERPs have the potential to provide a translational biomarker of the disorder. People with ASD also have abnormal ERPs in response to auditory and visual social stimuli, demonstrating functional disruption of the social circuit. To assess the integrity of the social circuit and characterize biomarkers of circuit dysfunction, novel EEG paradigms that use social stimuli to induce ERPs should be developed for use in animal models. The identification of a socially-relevant ERP that is consistent in animal models and humans would facilitate the development of pharmacological treatment strategies for the social impairments in ASD and other neuropsychiatric disorders.
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18. Neil L, Green D, Pellicano E. {{The Psychometric Properties of a New Measure of Sensory Behaviors in Autistic Children}}. {J Autism Dev Disord};2017 (Feb 17)
Unusual reactions to sensory input became part of the diagnostic criteria for autism spectrum disorder in the DSM-5. Measures accurately assessing these symptoms are important for clinical decisions. This study examined the reliability and validity of the Sensory Behavior Questionnaire, a parent-report scale designed to assess frequency and impact of sensory behaviors in autistic children. The scale demonstrated excellent internal consistency and concurrent validity, and was a better predictor of autistic symptoms than the Short Sensory Profile within a group of 66 school-age autistic children. The scale also successfully discriminated between autistic and typical children of similar age and ability. The Sensory Behavior Questionnaire has potential as a measure of sensory behaviors in children on the autism spectrum.
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19. Ohl A, Grice Sheff M, Little S, Nguyen J, Paskor K, Zanjirian A. {{Predictors of employment status among adults with Autism Spectrum Disorder}}. {Work};2017 (Feb 17)
BACKGROUND: In the United States, adults with Autism Spectrum Disorder (ASD) experience high rates of unemployment and underemployment in relation to adults with other disabilities and the general population. Yet there is little research examining their employment experiences and the predictors of employment status. OBJECTIVE: The purpose of this study was to examine the employment characteristics and histories of both employed and unemployed adults with ASD, and the factors that contributed to their employment status. METHODS: This cross-sectional study used an online survey and the Short Effort Reward Imbalance (ERI) Scale to gather data. Multivariate logistic regression analyses were used to examine predictors of employment status and self-reported health. RESULTS: Of the 254 adults with ASD who participated in this study, 61.42% were employed and 38.58% were unemployed. Over half of the participants reported job imbalance on the Short ERI Scale and the vast majority did not receive any job assistance. Participants who disclosed their ASD diagnosis to their employer were more than three times as likely to be employed than those who did not disclose. Education level was also a significant predictor of employment status. CONCLUSIONS: This study suggests disability disclosure and education level are factors that contribute to employment status.
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20. Patzlaff NE, Nemec KM, Malone SG, Li Y, Zhao X. {{Fragile X related protein 1 (FXR1P) regulates proliferation of adult neural stem cells}}. {Hum Mol Genet};2017 (Feb 15)
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21. Sabatino DiCriscio A, Troiani V. {{Brief Report: Autism-like Traits are Associated With Enhanced Ability to Disembed Visual Forms}}. {J Autism Dev Disord};2017 (Feb 17)
Atypical visual perceptual skills are thought to underlie unusual visual attention in autism spectrum disorders. We assessed whether individual differences in visual processing skills scaled with quantitative traits associated with the broader autism phenotype (BAP). Visual perception was assessed using the Figure-ground subtest of the Test of visual perceptual skills-3rd Edition (TVPS). In a large adult cohort (n = 209), TVPS-Figure Ground scores were positively correlated with autistic-like social features as assessed by the Broader autism phenotype questionnaire. This relationship was gender-specific, with males showing a correspondence between visual perceptual skills and autistic-like traits. This work supports the link between atypical visual perception and autism and highlights the importance in characterizing meaningful individual differences in clinically relevant behavioral phenotypes.
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22. Shah RR, Bird AP. {{MeCP2 mutations: progress towards understanding and treating Rett syndrome}}. {Genome Med};2017 (Feb 17);9(1):17.
Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain.
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23. Shtayermman O. {{Fred R. Volkmar, Brian Reichow, and James McPartland (Eds): Adolescents and Adults with Autism Spectrum Disorder : Springer International Publishing, 2014, 337pp, ISBN: 978-1-4939-0506-5, $59.99 (hardcover)}}. {J Autism Dev Disord};2017 (Feb 17)
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24. Thomas PA, King JS, Mendelson JL, Nelson-Gray RO. {{Parental psychopathology and expectations for the futures of children with autism spectrum disorder}}. {J Appl Res Intellect Disabil};2017 (Feb 16)
BACKGROUND: The influence of parental psychopathology and parental expectations on child well-being is well documented among typically developing populations. However, to date little research has examined the relationship among these factors in families of children with autism spectrum disorder (ASD). This study examines an observed relationship between parental psychopathology and expectations in families with children with ASD in the light of research in other populations. METHOD: Twenty-four parents of children diagnosed with ASD were assessed for symptoms of psychopathology. Parents completed measures of child ASD severity as well as their expectations for possible outcomes of their child. RESULTS: Two main effects were found: higher parental psychopathology and ASD severity were both related to lower expectations. Interaction of ASD severity and parental psychopathology in relation to parent expectations was not observed. CONCLUSION: These results emphasize the necessity of providing services not only to individuals diagnosed with ASD, but to caregivers as well.
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25. Yuan J, Holtz C, Smith T, Luo J. {{Autism spectrum disorder detection from semi-structured and unstructured medical data}}. {EURASIP J Bioinform Syst Biol};2017 (Dec);2017:3.
Autism spectrum disorder (ASD) is a developmental disorder that significantly impairs patients’ ability to perform normal social interaction and communication. Moreover, the diagnosis procedure of ASD is highly time-consuming, labor-intensive, and requires extensive expertise. Although there exists no known cure for ASD, there is consensus among clinicians regarding the importance of early intervention for the recovery of ASD patients. Therefore, to benefit autism patients by enhancing their access to treatments such as early intervention, we aim to develop a robust machine learning-based system for autism detection by using Natural Language Processing techniques based on information extracted from medical forms of potential ASD patients. Our detecting framework involves converting semi-structured and unstructured medical forms into digital format, preprocessing, learning document representation, and finally, classification. Testing results are evaluated against the ground truth set by expert clinicians and the proposed system achieve a 83.4% accuracy and 91.1% recall, which is very promising. The proposed ASD detection framework could significantly simplify and shorten the procedure of ASD diagnosis.
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26. Zaidman-Zait A, Curle D, Jamieson JR, Chia R, Kozak FK. {{Health-Related Quality of Life Among Young Children With Cochlear Implants and Developmental Disabilities}}. {Ear Hear};2017 (Feb 15)
OBJECTIVE: The present study examined differences in health-related quality of life (HRQoL) between deaf children with cochlear implants (CI) with and without developmental disabilities (DD) and differences across HRQoL domains within both groups of children. METHODS: Ninety-two parents of children with CI aged 3-7 years participated in this cross-sectional study. Of these children, 43 had DD (i.e., CI-DD group) and 49 had no DD or chronic illness, demonstrating overall typical development (i.e., CI-TD group). Parents of children in both groups completed the KINDL, a generic HRQoL questionnaire. Parents also provided anecdotal comments to open-ended questions, and parent comments were evaluated on a CI benefits scale to assess parent-perceived benefits of CI for the deaf children with and without disabilities. RESULTS: Children in the CI-DD group had significantly lower HRQoL compared to children in the CI-TD group, including lower scores on the self-esteem, friend, school, and family HRQoL subscales. No significant differences among groups were found on the physical well-being and emotional well-being subscales. For the CI-TD group, age at implantation correlated negatively with self-esteem and school HRQoL subscales. In the CI-DD group, children’s current age correlated negatively with family and with the total HRQoL scores. Parent anecdotal comments and scores on the CI-benefits scale indicated strong parent perceptions of benefits of implantation for children in both groups. CONCLUSION: Based on parents’ proxy report, findings suggest that having DD affects multiple domains of HRQoL among young children with CIs above and beyond that of the CI itself. Parents of deaf children with DD may need greater support through the CI process and follow-up than parents of deaf children without DD.
