1. {{Does paracetamol in pregnancy cause ADHD and autism?}}. {Arch Dis Child};2016 (Aug 9)
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2. Aydin HI. {{Genetic Studies in Autism: Correspondence}}. {Indian J Pediatr};2016 (Aug 10)
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3. Cogill S, Wang L. {{Support Vector Machine Model of Developmental Brain Gene Expression Data for Prioritization of Autism Risk Gene Candidates}}. {Bioinformatics};2016 (Aug 9)
MOTIVATION: Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders with clinical heterogeneity and a substantial polygenic component. High-throughput methods for ASD risk gene identification produce numerous candidate genes that are time-consuming and expensive to validate. Prioritization methods can identify high-confidence candidates. Previous ASD gene prioritization methods have focused on a priori knowledge, which excludes genes with little functional annotation or no protein product such as long non-coding RNAs (lncRNAs). RESULTS: We have developed a support vector machine (SVM) model, trained using brain developmental gene expression data, for the classification and prioritization of ASD risk genes. The selected feature model had a mean accuracy of 76.7%, mean specificity of 77.2%, and mean sensitivity of 74.4%. Gene lists comprised of an ASD risk gene and adjacent genes were ranked using the model’s decision function output. The known ASD risk genes were ranked on average in the 77.4th, 78.4th, and 80.7th percentile for sets of 101, 201, and 401 genes respectively. Of 10,840 lncRNA genes, 63 were classified as ASD-associated candidates with a confidence greater than 0.95. Genes previously associated with brain development and neurodevelopmental disorders were prioritized highly within the lncRNA gene list. CONTACT: liangjw@clemson.edu SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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4. Durbin A, Sirotich F, Lunsky Y, Roesslein K, Durbin J. {{Needs among persons with human immunodeficiency virus and intellectual and developmental disabilities in community mental health care: a cross-sectional study}}. {J Intellect Disabil Res};2016 (Aug 10)
BACKGROUND: The experience of having human immunodeficiency virus (HIV) is often associated with co-occurring mental health issues. Community mental health services are an important source of support for persons with HIV living in the community. Persons with intellectual disability (ID) are vulnerable to HIV and may have unique support needs beyond those without ID receiving community care. This study compared support needs of men with HIV in community mental health programmes, with and without ID. METHODS: The sample was composed of 138 HIV-positive men with and without ID receiving mental health case management from one community organisation in Ontario, Canada, on 31 March 2013. Staff-rated needs across 16 domains grouped into four clusters were measured using the Camberwell Assessment of Need: Basic needs (accommodation, food, public transportation, money and benefits); self-care/functional needs (looking after the home, self-care and daytime activities); health/safety needs (physical health, psychological distress, psychotic symptoms, safety to self and safety to others); and social needs (company, intimate relationships and sexual expression). Adjusted logistic regression models examined the association between ID and each need domain. RESULTS: One-quarter of the sample (n = 34/138, 24.6%) had co-occurring ID. Those with ID were more likely to have needs in the basic cluster [odds ratios: food 4.05 (1.14, 14.44), P:0.031; benefits 2.58 (1.05, 6.32), P:0.038)] and self-care/functional cluster [looking after the home (2.75 (1.17, 6.49), P:0.021); self-care (2.72 (1.18, 6.27), P:0.019)], but were less likely to have need for sexual expression: 0.35 (0.14,0.90), P:0.030) (social cluster). There were no differences in the domains in the health/safety cluster. CONCLUSION: Despite elevated cognitive needs in the basic and self-care/functional clusters for the ID group, limited other differences suggest that with moderate additional targeting, community mental health programmes for persons with HIV may be appropriate for men with ID.
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5. Einspieler C, Freilinger M, Marschik PB. {{Behavioural biomarkers of typical Rett syndrome: moving towards early identification}}. {Wien Med Wochenschr};2016 (Aug 11)
The dynamic course of Rett syndrome (RTT) is still said to begin with a period of apparently normal development although there is mounting evidence that individuals with RTT show behavioural peculiarities and abnormalities during their infancy. Their spontaneous general movements are abnormal from birth onwards. Normal cooing vocalisation and canonical babbling (if at all required) are interspersed with abnormalities such as proto-vowel and proto-consonant alternations produced on ingressive airstream, breathy voice characteristics, and pressed or high-pitched vocalisations. The gestural repertoire is limited. Certain developmental motor and speech-language milestones are not at all acquired or show a significant delay. Besides abnormal blinking, repetitive and/or long lasting tongue protrusion, and bizarre smiling, there are already the first body and/or hand stereotypies during the first year of life. We are currently on a promising way to define a specific set of behavioural biomarkers pinpointing RTT.
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6. Forbes PA, Wang Y, de CHAF. {{STORMy Interactions: Gaze and the Modulation of Mimicry in Adults on the Autism Spectrum}}. {Psychon Bull Rev};2016 (Aug 9)
Mimicry involves unconsciously imitating the actions of others and is a powerful and ubiquitous behavior in social interactions. There has been a long debate over whether mimicry is abnormal in people with autism spectrum conditions (ASC) and what the causes of any differences might be. Wang and Hamilton’s (2012) social top-down response modulation (STORM) model proposed that people with ASC can and do mimic but, unlike neurotypical participants, fail to modulate their mimicry according to the social context. This study used an established mimicry paradigm to test this hypothesis. In neurotypical participants, direct gaze specifically enhanced congruent hand actions as previously found; in the ASC sample, direct gaze led to faster reaction times in both congruent and incongruent movements. This result shows that mimicry is intact in ASC, but is not socially modulated by gaze, as predicted by STORM.
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7. Garcia-Lopez C, Sarria E, Pozo P, Recio P. {{Supportive Dyadic Coping and Psychological Adaptation in Couples Parenting Children with Autism Spectrum Disorder: The Role of Relationship Satisfaction}}. {J Autism Dev Disord};2016 (Aug 9)
In couples parenting children with Autism Spectrum Disorder (ASD), the partner becomes a primary source of support for addressing the additional parenting demands. The purpose of this study was to examine the associations between supportive dyadic coping and parental adaptation, and to assess the mediating role of relationship satisfaction between them. Seventy-six couples parenting children with ASD participated. Data were gathered through self-report questionnaires and an Actor-Partner Interdependence Mediation Model was used. Mothers’ and fathers’ supportive dyadic coping was related to both their own and partner’s relationship satisfaction and parental adaptation. Findings also revealed the mediation role of relationship satisfaction, in the association between supportive dyadic coping and parental adaptation. The implications for research and clinical practice are discussed.
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8. Goldschmidt J, Song HJ. {{Development of Cooking Skills as Nutrition Intervention for Adults with Autism and Other Developmental Disabilities}}. {J Acad Nutr Diet};2016 (Aug 11)
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9. Horne T, Leonard H, Stannage K, Downs J. {{A qualitative investigation of recovery after femoral fracture in Rett syndrome}}. {Child Care Health Dev};2016 (Aug 11)
BACKGROUND: Children with severe disability often develop osteoporosis and have an increased risk of fracture. In Rett syndrome, the prevalence of fracture is four times greater than in the general population, and the femur is commonly affected. This study used qualitative methods to investigate the regaining of mobility within 12 months following femoral fracture in Rett syndrome and parent caregiver experiences. METHODS: Caregivers (n = 14) of cases registered with the Australian Rett Syndrome Database with a daughter with Rett syndrome were recruited if their daughter sustained a femoral fracture between 2009 and 2014. Median (interquartile range) age at fracture was 11 years and 4 months (8 years and 8 months to 22 years and 3 months). Qualitative methods were used to investigate parent/caregiver experiences and their daughter’s recovery following fracture. Themes in the interview data were identified with thematic analysis. RESULTS: Operative management was chosen for those walking independently and non-operative management for most of the remaining. All who walked independently and one of the four who required assistance recovered pre-operative walking skills within 6 months. Themes identified by caregivers related to the complexities of pain recognition, the caregiver emotional journey and later rebuilding of relationships with service providers. CONCLUSIONS: Those who walked with assistance were vulnerable to loss of this skill. Difficulties in pain recognition increased time to diagnose fracture, and the acute episode was associated with heightened caregiver stress. Service providers can use family-centred practice models to support the strengthening of family functioning following this acute event that is surprisingly common in those with severe disability.
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10. Kisamore AN, Karsten AM, Mann CC. {{Teaching multiply controlled intraverbals to children and adolescents with autism spectrum disorders}}. {J Appl Behav Anal};2016 (Aug 9)
Reciprocal conversations, instructional activities, and other social interactions are replete with multiply controlled intraverbals, examples of which have been conceptualized in terms of conditional discriminations. Although the acquisition of conditional discriminations has been examined extensively in the behavior-analytic literature, little research has evaluated procedures to establish multiply controlled intraverbals. Thus, the purpose of this investigation was to evaluate the effects of procedures based on conditional discrimination training on the acquisition of multiply controlled intraverbals with 7 participants who had been diagnosed with autism spectrum disorders. We evaluated the effects of prompt delay with error correction, a differential observing response (DOR), and a DOR plus blocked trials on the acquisition of intraverbals using a multiple baseline design. Accuracy of intraverbal performance increased for at least 1 set of stimuli for all participants under prompt delay with error correction conditions; however, 4 participants required additional teaching (i.e., DOR, modified DOR, modified prompt delay with error correction). Based on these findings, when prompt delay with error correction is not sufficient to establish multiply controlled intraverbals, prompted DORs may be an effective alternative.
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11. Koolschijn PC, Caan MW, Teeuw J, Olabarriaga SD, Geurts HM. {{Age-related differences in autism: The case of white matter microstructure}}. {Hum Brain Mapp};2016 (Aug 11)
Autism spectrum disorder (ASD) is typified as a brain connectivity disorder in which white matter abnormalities are already present early on in life. However, it is unknown if and to which extent these abnormalities are hard-wired in (older) adults with ASD and how this interacts with age-related white matter changes as observed in typical aging. The aim of this first cross-sectional study in mid- and late-aged adults with ASD was to characterize white matter microstructure and its relationship with age. We utilized diffusion tensor imaging with head motion control in 48 adults with ASD and 48 age-matched controls (30-74 years), who also completed a Flanker task. Intra-individual variability of reaction times (IIVRT) measures based on performance on the Flanker interference task were used to assess IIVRT-white matter microstructure associations. We observed primarily higher mean and radial diffusivity in white matter microstructure in ASD, particularly in long-range fibers, which persisted after taking head motion into account. Importantly, group-by-age interactions revealed higher age-related mean and radial diffusivity in ASD, in projection and association fiber tracts. Subtle dissociations were observed in IIVRT-white matter microstructure relations between groups, with the IIVRT-white matter association pattern in ASD resembling observations in cognitive aging. The observed white matter microstructure differences are lending support to the structural underconnectivity hypothesis in ASD. These reductions seem to have behavioral percussions given the atypical relationship with IIVRT. Taken together, the current results may indicate different age-related patterns of white matter microstructure in adults with ASD. Hum Brain Mapp, 2016. (c) 2016 Wiley Periodicals, Inc.
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12. Marshall D, Wright B, Allgar V, Adamson J, Williams C, Ainsworth H, Cook L, Varley D, Hackney L, Dempster P, Ali S, Trepel D, Collingridge Moore D, Littlewood E, McMillan D. {{Social Stories in mainstream schools for children with autism spectrum disorder: a feasibility randomised controlled trial}}. {BMJ Open};2016;6(8):e011748.
OBJECTIVES: To assess the feasibility of recruitment, retention, outcome measures and intervention training/delivery among teachers, parents and children. To calculate a sample size estimation for full trial. DESIGN: A single-centre, unblinded, cluster feasibility randomised controlled trial examining Social Stories delivered within a school environment compared with an attentional control. SETTING: 37 primary schools in York, UK. PARTICIPANTS: 50 participants were recruited and a cluster randomisation approach by school was examined. Participants were randomised into the treatment group (n=23) or a waiting list control group (n=27). OUTCOME MEASURES: Acceptability and feasibility of the trial, intervention and of measurements required to assess outcomes in a definitive trial. RESULTS: An assessment of the questionnaire completion rates indicated teachers would be most appropriate to complete the primary outcome measure. 2 outcome measures: the Social Responsiveness Scale (SRS)-2 and a goal-based measure showed both the highest levels of completion rates (above 80%) at the primary follow-up point (6 weeks postintervention) and captured relevant social and behaviour outcomes. Power calculations were based on these 2 outcome measures leading to a total proposed sample size of 180 participant groups. CONCLUSIONS: Results suggest that a future trial would be feasible to conduct and could inform the policy and practice of using Social Stories in mainstream schools. TRIAL REGISTRATION NUMBER: ISRCTN96286707; Results.
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13. Ross PD, Guy J, Selfridge J, Kamal B, Bahey N, Tanner E, Gillingwater TH, Jones RA, Loughrey CM, McCarroll CS, Bailey ME, Bird A, Cobb S. {{Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes}}. {Hum Mol Genet};2016 (Aug 9)
Rett Syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked MECP2 gene. MeCP2 protein is highly expressed in the nervous system and deficiency in the mouse central nervous system alone recapitulates many features of the disorder. This suggests that RTT is primarily a neurological disorder, although the protein is reportedly widely expressed throughout the body. To determine whether aspects of the RTT phenotype that originate in non-neuronal tissues might have been overlooked, we generated mice in which Mecp2 remains at near normal levels in the nervous system, but is severely depleted elsewhere. Comparison of these mice with wild type and globally MeCP2-deficient mice showed that the majority of RTT-associated behavioural, sensorimotor, gait and autonomic (respiratory and cardiac) phenotypes are absent. Specific peripheral phenotypes were observed, however, most notably hypo-activity, exercise fatigue and bone abnormalities. Our results confirm that the brain should be the primary target for potential RTT therapies, but also strongly suggest that some less extreme but clinically significant aspects of the disorder arise independently of defects in the nervous system.
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14. Tsur E, Friger M, Menashe I. {{The Unique Evolutionary Signature of Genes Associated with Autism Spectrum Disorder}}. {Behav Genet};2016 (Aug 11)
Autism spectrum disorder (ASD) is a common heritable neurodevelopmental disorder, which is characterized by communication and social deficits that reduce the reproductive fitness of individuals with the disorder. Here, we studied the genomic characteristics of 651 ASD genes in a whole-exome sequencing dataset, to search for traces of the evolutionary forces that helped maintain ASD in the human population. We show that ASD genes are ~65 longer and ~20 % less variable than non-ASD genes. The mutational shortage in ASD genes was particularly eminent when considering only deleterious genetic variations, which is a hallmark of negative selection. We further show that these genomic characteristics are unique to ASD genes, as compared with brain-specific genes or with genes of other diseases. Our findings suggest that ASD genes have evolved under complex evolutionary forces, which have left a unique signature that can be used to identify new candidate ASD genes.
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15. Zalla T, Fernandez LG, Pieron M, Seassau M, Leboyer M. {{Reduced saccadic inhibition of return to moving eyes in autism spectrum disorders}}. {Vision Res};2016 (Aug 12);127:115-121.
Inhibition of Return (IOR) refers to slower reaction time to a target presented at the same location as a preceding stimulus. Here, we examine reflexive attention orienting via the saccadic IOR using a shift in gaze direction (i.e. from averted to direct) in faces presented as a peripheral cue, in upright and inverted orientations, in adults with Autism Spectrum Disorder (ASD) and typically developed comparison participants. While both groups showed an IOR in the inverted face condition, this effect was reduced in participants with ASD in the upright face condition, as compared to comparison participants, suggesting that moving eyes do not trigger reflexive exogenous orienting in individuals with ASD. Impaired reflexive orienting to eye gaze might severely compromise the later development of social functions in ASD, such as joint attention, face emotion recognition and mindreading.
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16. Zheng Z, Zhang L, Zhu T, Huang J, Qu Y, Mu D. {{Peripheral brain-derived neurotrophic factor in autism spectrum disorder: a systematic review and meta-analysis}}. {Sci Rep};2016;6:31241.
Brain-derived neurotrophic factor (BDNF) regulates neuronal survival and growth and promotes synaptic plasticity. Recently, researchers have begun to explore the relationship between peripheral BDNF levels and autism spectrum disorder (ASD), but the findings are inconsistent. We undertook the first systematic review and meta-analysis of studies examining peripheral BDNF levels in ASD compared with healthy controls. The PubMed, Embase, and Cochrane Library databases were searched for studies published before February 2016. Fourteen studies involving 2,707 participants and 1,131 incident cases were included. The meta-analysis provided evidence of higher peripheral BDNF levels in ASD compared with controls [standardized mean difference (SMD) = 0.63, 95% confidence interval (95% CI) = 0.18-1.08; P = 0.006]. Subgroup analyses revealed higher BDNF levels in ASD compared with controls for both serum [SMD = 0.58, 95% CI = 0.11-1.04; P = 0.02] and plasma [SMD = 1.27, 95% CI = 0.92-1.61; P < 0.001]. Studies of childhood yielded similar cumulative effect size [SMD = 0.78, 95% CI = 0.31-1.26; P = 0.001], while this was not true for the studies of adulthood [SMD = 0.04, 95% CI = -1.72-1.80; P = 0.97]. This meta-analysis suggests that peripheral BDNF levels are a potential biomarker of ASD. Lien vers le texte intégral (Open Access ou abonnement)
