Pubmed du 05/10/19

samedi 5 octobre 2019

1. Darvish H, Azcona LJ, Alehabib E, Jamali F, Tafakhori A, Ranji-Burachaloo S, Jen JC, Paisan-Ruiz C. A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors. Neurol Genet ;2019 (Oct) ;5(5):e356.

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2. Dutton E, Te Nijenhuis J, Metzen D, van der Linden D, Madison G. The Myth of the Stupid Believer : The Negative Religiousness-IQ Nexus is Not on General Intelligence (g) and is Likely a Product of the Relations Between IQ and Autism Spectrum Traits. J Relig Health ;2019 (Oct 5)

Numerous studies have found a negative relationship between religiousness and IQ. It is in the region of - 0.2, according to meta-analyses. The reasons for this relationship are, however, unknown. It has been suggested that higher intelligence leads to greater attraction to science, or that it helps to override evolved cognitive dispositions such as for religiousness. Either way, such explanations assume that the religion-IQ nexus is on general intelligence (g), rather than some subset of specialized cognitive abilities. In other words, they assume it is a Jensen effect. Two large datasets comparing groups with different levels of religiousness show that their IQ differences are not on g and must, therefore, be attributed to specialized abilities. An analysis of the specialized abilities on which the religious and non-religious groups differ reveals no clear pattern. We cautiously suggest that this may be explicable in terms of autism spectrum disorder traits among people with high IQ scores, because such traits are negatively associated with religiousness.

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3. Estes A, Swain DM, MacDuffie KE. The effects of early autism intervention on parents and family adaptive functioning. Pediatr Med ;2019 (Jun) ;2

This review describes the effects of intervention for young children with autism spectrum disorder (ASD) on parents. Like all children, children with ASD bring both negative and positive experiences for parents and families-from increased resource needs, to higher levels of parenting-related stress, to positive personal growth for family members. It is increasingly recognized that, although children with ASD are the primary targets of early ASD intervention, ASD intervention also impacts parents. From the time emerging developmental concerns begin to be identified, through the process of obtaining a diagnosis and initiating services, parents play a central role in addressing the needs of young children with ASD, including implementing and supporting early intervention. Parents experience the impact of intervention directly, through interaction with providers within the health care and educational systems. Parents also experience indirect impacts of ASD intervention due to accelerated developmental progress of children who are benefitting from services and when children make slower progress than expected or have challenging behaviors. Parental stress and psychological well-being are legitimate targets of intervention and compelling research objectives, needing no additional justification. However, parents are also the major contributors to family adaptive functioning-the activities families employ to support positive outcomes for children with ASD (e.g., family-orchestrated child experiences, parent-child interaction, child health and safety functions ; Guralnick, 1997). A parent’s ability to carry out adaptive functions is, in part, related to their levels of stress and psychological well-being. Thus, there is a transactional process in which parents are both impacted by and have an impact on ASD interventions for their child. Evaluating the effect of ASD intervention on parents is needed to develop new strategies for helping parents and children with ASD reach their full potential. This review will provide an overview of research on the impact of early ASD intervention on parents. Evidence regarding the impact of three types of intervention (i.e., early intensive behavioral intervention, parent-implemented intervention, and programs directly targeting parent stress) on parent well-being and family adaptive functioning will be reviewed. Potential moderators of the impact of ASD intervention on parents and family adaptive functioning will be discussed. We conclude that research on the impact of ASD intervention on parents of young children with ASD is a promising avenue for improving the lives of children with ASD and their families.

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4. Jensen EJ, Geisthardt C, Sarigiani PA. Working with Children with Autism Spectrum Disorder in a Medical Setting : Insights from Certified Child Life Specialists. J Autism Dev Disord ;2019 (Oct 3)

This study aimed to gain an understanding of Certified Child Life Specialists’ (CCLS) experiences with and suggestions for working with children with autism spectrum disorder (ASD) in a medical setting. Using a mixed-method design, 118 CCLS completed an online survey and 16 participated in follow-up interviews. Participants believed many medical professionals, including CCLS, are not adequately prepared to work with children with ASD, negatively impacting quality of care. Participants emphasized that outcomes are best for children with ASD when parents and medical staff collaborate to meet the unique needs of each child. CCLS reported working with children with ASD can provide insights for enhancing the quality of care for all children. Participants’ suggestions for training and resource development are discussed.

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5. Jin Y, Choi J, Lee S, Kim JW, Hong Y. Pathogenetical and Neurophysiological Features of Patients with Autism Spectrum Disorder : Phenomena and Diagnoses. J Clin Med ;2019 (Oct 2) ;8(10)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is accompanied by social deficits, repetitive and restricted interests, and altered brain development. The majority of ASD patients suffer not only from ASD itself but also from its neuropsychiatric comorbidities. Alterations in brain structure, synaptic development, and misregulation of neuroinflammation are considered risk factors for ASD and neuropsychiatric comorbidities. Electroencephalography has been developed to quantitatively explore effects of these neuronal changes of the brain in ASD. The pineal neurohormone melatonin is able to contribute to neural development. Also, this hormone has an inflammation-regulatory role and acts as a circadian key regulator to normalize sleep. These functions of melatonin may play crucial roles in the alleviation of ASD and its neuropsychiatric comorbidities. In this context, this article focuses on the presumable role of melatonin and suggests that this hormone could be a therapeutic agent for ASD and its related neuropsychiatric disorders.

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6. Jussila K, Junttila M, Kielinen M, Ebeling H, Joskitt L, Moilanen I, Mattila ML. Sensory Abnormality and Quantitative Autism Traits in Children With and Without Autism Spectrum Disorder in an Epidemiological Population. J Autism Dev Disord ;2019 (Oct 3)

Sensory abnormalities (SAs) are recognized features in Autism Spectrum Disorder (ASD), and a relationship between SAs and ASD traits is also suggested in general population. Our aims were to estimate the prevalence of SAs in three different settings, and to study the association between SAs and quantitative autism traits (QAT) using the Autism Spectrum Screening Questionnaire (ASSQ) and a parental questionnaire. In an epidemiological population of 8-year-old children (n = 4397), the prevalence of SAs was 8.3%, in an ASD sample (n = 28), 53.6%, and in a non-ASD sample (n = 4369), 8.0%, respectively. Tactile and auditory hypersensitivity predicted an ASD diagnosis. The ASSQ was able to differentiate children with and without SA. In conclusion, QAT level and SAs were associated in all study samples.

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7. Mazurek MO, Stobbe G, Loftin R, Malow BA, Agrawal MM, Tapia M, Hess A, Farmer J, Cheak-Zamora N, Kuhlthau K, Sohl K. ECHO Autism Transition : Enhancing healthcare for adolescents and young adults with autism spectrum disorder. Autism ;2019 (Oct 3):1362361319879616.

Transition-age youth and young adults with autism spectrum disorder have complex healthcare needs, yet the current healthcare system is not equipped to adequately meet the needs of this growing population. Primary care providers lack training and confidence in caring for youth and young adults with autism spectrum disorder. The current study developed and tested an adaptation of the Extension for Community Healthcare Outcomes model to train and mentor primary care providers (n = 16) in best-practice care for transition-age youth and young adults with autism spectrum disorder. The Extension for Community Healthcare Outcomes Autism Transition program consisted of 12 weekly 1-h sessions connecting primary care providers to an interdisciplinary expert team via multipoint videoconferencing. Sessions included brief didactics, case-based learning, and guided practice. Measures of primary care provider self-efficacy, knowledge, and practice were administered pre- and post-training. Participants demonstrated significant improvements in self-efficacy regarding caring for youth/young adults with autism spectrum disorder and reported high satisfaction and changes in practice as a result of participation. By contrast, no significant improvements in knowledge or perceived barriers were observed. Overall, the results indicate that the model holds promise for improving primary care providers’ confidence and interest in working with transition-age youth and young adults with autism spectrum disorder. However, further refinements may be helpful for enhancing scope and impact on practice.

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8. Orozco JS, Hertz-Picciotto I, Abbeduto L, Slupsky CM. Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. Transl Psychiatry ;2019 (Oct 3) ;9(1):243.

Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders. Here, the plasma metabolic phenotype of children with autism spectrum disorder (ASD, n = 167), idiopathic-developmental delay (i-DD, n = 51), and Down syndrome (DS, n = 31), as compared to typically developed (TD, n = 193) controls was investigated in a subset of children from the case-control Childhood Autism Risk from Genetics and the Environment (CHARGE) Study. Metabolome profiles were obtained using nuclear magnetic resonance spectroscopy and analyzed in an untargeted manner. Forty-nine metabolites were identified and quantified in each sample that included amino acids, organic acids, sugars, and other compounds. Multiple linear regression analysis revealed significant associations between 11 plasma metabolites and neurodevelopmental outcome. Despite the varied origins of these developmental disabilities, we observed similar perturbation in one-carbon metabolism pathways among DS and ASD cases. Similarities were also observed in the DS and i-DD cases in the energy-related tricarboxylic acid cycle. Other metabolites and pathways were uniquely associated with DS or ASD. By comparing metabolic signatures between these conditions, the current study expands on extant literature demonstrating metabolic alterations associated with developmental disabilities and provides a better understanding of overlapping vs specific biological perturbations associated with these disorders.

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9. Patrick PA, Obermeyer I, Xenakis J, Crocitto D, O’Hara DM. Technology and social media use by adult patients with intellectual and/or developmental disabilities. Disabil Health J ;2019 (Sep 12):100840.

BACKGROUND : Technology and social media offer individuals with intellectual and/or developmental disabilities (I/DD) unique and innovative ways to facilitate active participation in their own healthcare process. What remains unclear is the extent to which devices are currently used by this growing patient population. OBJECTIVE : To explore the prevalence of technology and social media use, as well as the possible barriers, among adult patients with I/DD. METHODS : A cross-sectional study utilizing an anonymous, accessible survey was used to obtain data from all adult patients (18 + years of age) with I/DD presenting for primary care services at a healthcare facility in New York between September and December of 2016. RESULTS : A total of 370 individuals completed the survey (529 approached, 69.9% response rate). Less than half (44.6%) of respondents used devices such as a tablet, smartphone or desktop ; most (86.8%) did not use social media. Only 21.6% of respondents indicated that they use some type of assistive technology. While some respondents (46.0%) were identified by their caregivers as having a disability that would prevent them from learning/using technology, other respondents reported having no challenges (18.0%), needing training and/or ongoing support (7.4%), or being uncertain as to whether they would experience any challenges (15.5%). CONCLUSIONS : Many adult patients with I/DD do not use technology and social media that could promote self-determination and participation in their healthcare. Continued efforts must be made to promote technology use among adults with I/DD and to ensure that appropriate training is available for both the individual and his/her caregivers to achieve adoption and utilization.

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10. Schelinski S, von Kriegstein K. Brief Report : Speech-in-Noise Recognition and the Relation to Vocal Pitch Perception in Adults with Autism Spectrum Disorder and Typical Development. J Autism Dev Disord ;2019 (Oct 3)

We tested the ability to recognise speech-in-noise and its relation to the ability to discriminate vocal pitch in adults with high-functioning autism spectrum disorder (ASD) and typically developed adults (matched pairwise on age, sex, and IQ). Typically developed individuals understood speech in higher noise levels as compared to the ASD group. Within the control group but not within the ASD group, better speech-in-noise recognition abilities were significantly correlated with better vocal pitch discrimination abilities. Our results show that speech-in-noise recognition is restricted in people with ASD. We speculate that perceptual impairments such as difficulties in vocal pitch perception might be relevant in explaining these difficulties in ASD.

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11. Slaughter-Acey JC, Saintil S. Hospitalization rates of children by developmental disability, maternal nativity, and Indigenous status : the complexity of intersectionality. Dev Med Child Neurol ;2019 (Oct 3)

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12. Stahlhut M, Downs J, Wong K, Bisgaard AM, Nordmark E. Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome. Phys Ther ;2019 (Oct 4)

BACKGROUND : Girls and women with Rett Syndrome (RTT) have low levels of daily physical activity and high levels of sedentary time. Reducing sedentary time and enhancing "uptime" activities such as standing and walking could be an important focus for interventions to address long-term health and quality of life in RTT. OBJECTIVE : The aim of the study was to evaluate the feasibility and health-related effects of an individualized 12-week uptime participation (U-PART) intervention in girls and women with RTT. DESIGN : The study used a single-group pretest-posttest design with 4 assessments (2 baseline, postintervention, and follow-up). METHODS : A participation-based intervention using a whole-day approach was used. During a 12-week intervention period, individualized programs focused on participation in enjoyable uptime activities in home, school/day center, and community settings. Feasibility was assessed with a study-specific questionnaire. Primary outcome measures were sedentary time and daily step count. Secondary outcomes were gross motor skills, walking capacity, quality of life, and goal attainment scaling. RESULTS : Fourteen girls and women who were 5 to 48 years old and had RTT participated. The U-PART intervention was perceived as feasible by caregivers. Similar scores were observed at baseline assessments in all outcomes. Positive effects with small to medium effect sizes (0.27-0.54) were seen in sedentary time (-4%), daily step count (+689 steps per day), walking capacity (+18.8 m), quality of life (+2.75 points), and goal attainment scaling after the intervention. Positive effects were maintained in sedentary time (-3.2%) and walking capacity (+12.1 m) at short-term follow-up. LIMITATIONS : This study was limited by the lack of control group. However, participants acted as their own control, and the stable baseline period partially mitigated this issue. CONCLUSIONS : The U-PART intervention was found to be feasible and effective in the short term in girls and women with RTT.

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13. Will EA, Bishop SL, Roberts JE. Developmental divergence : motor trajectories in children with fragile X syndrome with and without co-occurring autism. J Neurodev Disord ;2019 (Oct 5) ;11(1):23.

BACKGROUND : Autism spectrum disorder (ASD) is highly prevalent in fragile X syndrome (FXS), affecting 50-70% of males. Motor impairments are a shared feature across autism and FXS that may help to better characterize autism in FXS. As motor skills provide a critical foundation for various language, cognitive, and social outcomes, they may serve an important mechanistic role for autism in FXS. As such, this study aimed to identify differences in motor trajectories across direct assessment and parent-report measures of fine and gross motor development between FXS with and without autism, and typical development, while controlling for cognitive functioning. METHODS : This prospective longitudinal study included 42 children with FXS, 24 of whom also had ASD (FXS + ASD), as well as 40 typically developing children. The Mullen Scales of Early Learning provided a direct measure of fine and gross motor skills, and the Vineland Adaptive Behavior Scales provided a measure of parent-reported fine and gross motor skills. Random slopes and random intercepts multilevel models were tested to determine divergence in developmental motor trajectories between groups when controlling for cognitive level. RESULTS : Model results indicated the children with FXS + ASD diverged from TD children by 9-months on all measures of gross and fine motor skills, even when controlling for cognitive level. Results also indicated an early divergence in motor trajectories of fine and gross motor skills between the FXS + ASD and FXS groups when controlling for cognitive level. This divergence was statistically significant by 18 months, with the FXS + ASD showing decelerated growth in motor skills across direct observation and parent-report measures. CONCLUSIONS : This study is the first to examine longitudinal trends in motor development in children with FXS with and without comorbid ASD using both direct assessment and parent-report measures of fine and gross motor. Furthermore, it is among the first to account for nonverbal cognitive delays, a step towards elucidating the isolated role of motor impairments in FXS with and without ASD. Findings underscore the role of motor impairments as a possible signal representing greater underlying genetic liability, or as a potential catalyst or consequence, of co-occurring autism in FXS.

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14. Williams ZJ. Additional psychometric properties of the WHODAS-II in individuals with autism spectrum disorder. Autism Res ;2019 (Oct 4)

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15. Zhang L, Weitlauf AS, Amat AZ, Swanson A, Warren ZE, Sarkar N. Assessing Social Communication and Collaboration in Autism Spectrum Disorder Using Intelligent Collaborative Virtual Environments. J Autism Dev Disord ;2019 (Oct 3)

Existing literature regarding social communication outcomes of interventions in autism spectrum disorder (ASD) depends upon human raters, with limited generalizability to real world settings. Technological innovation, particularly virtual reality (VR) and collaborative virtual environments (CVE), could offer a replicable, low cost measurement platform when endowed with intelligent agent technology and peer-based interactions. We developed and piloted a novel collaborative virtual environment and intelligent agent (CRETA) for the assessment of social communication and collaboration within system and peer interactions. The system classified user statements with moderate to high accuracies. We found moderate to high agreement in displayed communication and collaboration skills between human-human and human-agent interactions. CRETA offers a promising avenue for future development of autonomous measurement systems for ASD research.

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