1. Abbasi J. {{In-home Robots Improve Social Skills in Children With Autism}}. {Jama}. 2018; 320(14): 1425.
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2. Atherton G, Lummis B, Day SX, Cross L. {{What am I thinking? Perspective-taking from the perspective of adolescents with autism}}. {Autism : the international journal of research and practice}. 2018: 1362361318793409.
Autistic people are often described as being impaired with regard to theory of mind, though more recent literature finds flaws in the theory of mind deficit paradigm. In addition, the predominant methods for examining theory of mind often rely on « observational » modes of assessment and do not adequately reflect the dynamic process of real-life perspective taking. Thus, it is imperative that researchers continue to test the autistic theory of mind deficit paradigm and explore theory of mind experiences through more naturalistic approaches. This study qualitatively examined theory of mind in 12 autistic adolescents through a series of semi-structured interviews. Interpretive phenomenological analysis of the data revealed four core themes in participants’ theory of mind experiences and strategies, all of which highlighted how a more accurate representation of autistic theory of mind is one of difference rather than deficit. For instance, data showed that autistic heightened perceptual abilities may contribute to mentalizing strengths and that honesty in autism may be less dependent on systemizing rather than personal experience and choice. Such findings suggest that future research should reexamine autistic characteristics in light of their ability to enhance theory of mind processing. Understanding how an autistic theory of mind is uniquely functional is an imperative step toward both destigmatizing the condition and advocating for neurodiversity.
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3. Hall-Lande J, Esler AN, Hewitt A, Gunty AL. {{Age of Initial Identification of Autism Spectrum Disorder in a Diverse Urban Sample}}. {Journal of autism and developmental disorders}. 2018.
This paper examines age of autism spectrum disorder (ASD) identification and related factors in a diverse urban sample, focusing on ASD identification in the East African Somali community. The overall average age of initial ASD identification was 4.8 years. Somali children received an initial clinical diagnosis of Autistic Disorder later than White children, and Somali children diagnosed with ASD born outside of Minnesota (MN) received their first comprehensive evaluation later than Somali children diagnosed with ASD born in MN. Most children had noted developmental concerns before age 3, with no significant racial or ethnic differences in those concerns. The current study contributes to a limited number of studies on early ASD identification in culturally and linguistically diverse populations.
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4. Hamp N, Zimmerman A, Hoffen J. {{Advocating for Automatic Eligibility for Early Intervention Services for Children Exposed to Lead}}. {Pediatric annals}. 2018; 47(10): e413-e8.
Lead poisoning remains one of the most prevalent and preventable environmental health hazards affecting children. Low-level lead exposure has been shown to significantly increase the risk of learning disabilities, behavioral problems, and developmental delay. It also has substantial social implications as lead toxicity disproportionately affects children from low-income, ethnic minority households. Early Intervention (EI) is a state-based federal program (Part C of the Federal Individuals with Disabilities Education Act) created to support the development of children from birth to age 3 years who are experiencing or who are at risk for developmental delay. In 2016, an Illinois EI and Lead Workgroup was established to address the best practice of offering EI services to children who have been exposed to lead. This work serves as a template for advocates and health providers in other states to establish automatic eligibility for EI services at low levels of lead exposure, while also demonstrating the capacity to serve these children without overwhelming the state’s EI system. [Pediatr Ann. 2018;47(10):e413-e418.].
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5. Healy S, Pacanowski CR, Williams E. {{Weight management interventions for youth with autism spectrum disorder: a systematic review}}. {International journal of obesity (2005)}. 2018.
BACKGROUND AND OBJECTIVE: In response to the elevated levels of overweight and obesity among children with autism spectrum disorder (ASD), this article provides a systematic review of the extant empirical literature reporting the effect of weight management interventions (including exercise, diet, and medication) for youth with ASD. DESIGN: A systematic review of published studies. The databases CINAHL, Web of Science, ERIC, Pubmed, and PsychINFO were searched, revealing 12 studies that were eligible for review. RESULTS: Of the included studies, half (n = 6) demonstrated significant weight loss; including comprehensive (n = 3), pharmaceutical (n = 2), and exercise (n = 1) interventions. Of relevance, and concern, was that only one of the included studies was determined to be of strong research quality, with the majority (n = 8) determined as being of weak study quality. Furthermore, studies included highly heterogeneous treatment approaches, study designs, and sample characteristics. CONCLUSIONS: This review demonstrates the potential of interventions (particularly individualized, comprehensive, and multidisciplinary team- based interventions) to effectively impact on weight among youth with ASD. It is imperative to rigorously test these interventions in individuals with ASD given the rates of obesity in this population and complications that ensue.
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6. Henriksen MW, Ravn K, Paus B, von Tetzchner S, Skjeldal OH. {{De novo mutations in SCN1A are associated with classic Rett syndrome: a case report}}. {BMC medical genetics}. 2018; 19(1): 184.
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other genetic causes. So far, there has not been reported any other gene that may account for the majority of these cases. CASE PRESENTATION: We describe two females who fulfill the diagnostic criteria for classic RTT, with pathogenic de novo mutations in SCN1A, which usually leads to Dravet syndrome. The developmental history and clinical features of these two females fits well with RTT, but they do have an unusual epileptic profile with early onset of seizures. Investigation of mRNA from one of the females showed a significantly reduced level of MECP2 mRNA. CONCLUSIONS: To our knowledge, this is the first report suggesting that SCN1A mutations could account for a proportion of the females with classic RTT without MECP2 mutations. As a consequence of these findings SCN1A should be considered in the molecular routine screening in MECP2-negative individuals with RTT and early onset epilepsy.
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7. Hughes JEA, Ward J, Gruffydd E, Baron-Cohen S, Smith P, Allison C, Simner J. {{Savant syndrome has a distinct psychological profile in autism}}. {Molecular autism}. 2018; 9: 53.
Background: Savant syndrome is a condition where prodigious talent can co-occur with developmental conditions such as autism spectrum conditions (autism). It is not yet clear why some autistic people develop savant skills while others do not. Methods: We tested three groups of adults: autistic individuals who have savant skills, autistic individuals without savant skills, and typical controls without autism or savant syndrome. In experiment 1, we investigated the cognitive and behavioural profiles of these three groups by asking participants to complete a battery of self-report measures of sensory sensitivity, obsessional behaviours, cognitive styles, and broader autism-related traits including social communication and systemising. In experiment 2, we investigated how our three groups learned a novel savant skill-calendar calculation. Results: Heightened sensory sensitivity, obsessional behaviours, technical/spatial abilities, and systemising were all key aspects in defining the savant profile distinct from autism alone, along with a different approach to task learning. Conclusions: These results reveal a unique cognitive and behavioural profile in autistic adults with savant syndrome that is distinct from autistic adults without a savant skill.
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8. Jacobs D, Steyaert J, Dierickx K, Hens K. {{Implications of an Autism Spectrum Disorder Diagnosis: An Interview Study of How Physicians Experience the Diagnosis in a Young Child}}. {Journal of clinical medicine}. 2018; 7(10).
Clinicians are significant translators and interpreters towards parents of the abundant literature on autism spectrum disorder (ASD). However, how clinicians experience and view ASD and an ASD diagnosis is not well known. Sixteen physicians working with young children with a (presumed) diagnosis of ASD participated in a semi-structured interview. They described their professional view on ASD and an ASD diagnosis, and how they experienced its use in their clinical practice. Interpretative phenomenological analysis of the data revealed two main topics about physicians’ experiences: how they view ASD and an ASD diagnosis, and how they experience the implications of an ASD diagnosis. The latter topic comprised three themes: (1) the ASD diagnosis leads to a particular treatment trajectory and services; (2) ambivalence about how the ASD diagnosis impacts parents and child; and (3) psycho-relational functions of the ASD diagnosis. Physicians feel that some doubts and questions are inevitable when dealing clinically with ASD and an ASD diagnosis. They also perceive that there are certain risks associated with assigning the categorical ASD diagnosis to a young child. Altogether however, ASD is perceived by physicians as a useful and valuable diagnosis both because of treatment related consequences and of several psycho-relational implications.
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9. Kerley CP, Elnazir B, Greally P, Coghlan D. {{Blunted serum 25(OH)D response to vitamin D3 supplementation in children with autism}}. {Nutritional neuroscience}. 2018: 1-6.
INTRODUCTION: Data suggest a potential role for vitamin D in autism spectrum disorder (ASD) prevention and treatment. It is likely that the serum response to vitamin D supplementation contributes to its effectiveness. Multiple factors affect serum vitamin D 25(OH)D response to supplementation. METHODS: We conducted post-hoc analysis of two double-blind, randomized, placebo-controlled trials (RCT) of vitamin D3 supplementation, one RCT involving children with ASD and another involving children with asthma. Both trials were conducted in the same geographic location (Dublin, Ireland, 53 degrees N), conducted over Winter season and utilized the same vitamin D3 dose (2000 IU/day). RESULTS: We included 18 children with ASD and 17 children with asthma. There was no significant difference in 25(OH)D or age at baseline, however, BMI was significantly lower in ASD (P = 0.03). Compliance with vitamin D supplementation was high in both trials. Despite a significantly longer intervention period (20w vs. 15w; P < 0.0001), ASD children had a significantly lower absolute increase (+26 vs. +45 nmol/l) in 25(OH)D (P = 0.04). CONCLUSIONS: Despite similar demographics, children with ASD had a lower increase in 25(OH)D levels with supplementation. Potential mechanisms include altered absorption/metabolism as well as well genetic factors. Clinical and research work relating to vitamin D is ASD should measure 25(OHO)D response to supplementation to assess therapeutic doses. Lien vers le texte intégral (Open Access ou abonnement)
10. Kim SH, Grzadzinski R, Martinez K, Lord C. {{Measuring treatment response in children with autism spectrum disorder: Applications of the Brief Observation of Social Communication Change to the Autism Diagnostic Observation Schedule}}. {Autism : the international journal of research and practice}. 2018: 1362361318793253.
This study aims to determine the validity and reliability of applying the coding strategy from the Brief Observation of Social Communication Change, a newly validated treatment outcome measure, to videotaped segments of the Autism Diagnostic Observation Schedule. Results indicate strong reliability and validity of the Brief Observation of Social Communication Change ratings using the Autism Diagnostic Observation Schedule segments in detecting changes in social communication over the course of treatment in young, minimally verbal children with autism spectrum disorder. Results also suggest that the Brief Observation of Social Communication Change, when applied to Autism Diagnostic Observation Schedule segments, may be more sensitive in detecting subtle changes in social communication compared to the Autism Diagnostic Observation Schedule Calibrated Severity Scores. These results may support the application of the Brief Observation of Social Communication Change to pre-existing datasets of Autism Diagnostic Observation Schedule videos to examine treatment responses.
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11. Lehoux T, Carrier J, Godbout R. {{NREM sleep EEG slow waves in autistic and typically developing children: Morphological characteristics and scalp distribution}}. {Journal of sleep research}. 2018: e12775.
Autism is a developmental disorder with a neurobiological aetiology. Studies of the autistic brain identified atypical developmental trajectories that may lead to an impaired capacity to modulate electroencephalogram activity during sleep. We assessed the topography and characteristics of non-rapid eye movement sleep electroencephalogram slow waves in 26 boys aged between 6 and 13 years old: 13 with an autism spectrum disorder and 13 typically developing. None of the participants was medicated, intellectually disabled, reported poor sleep, or suffered from medical co-morbidities. Results are derived from a second consecutive night of polysomnography in a sleep laboratory. Slow waves (0.3-4.0 Hz; >75 microV) were automatically detected on artefact-free sections of non-rapid eye movement sleep along the anteroposterior axis in frontal, central, parietal and occipital derivations. Slow wave density (number per minute), amplitude (microV), slope (microV s(-1) ) and duration (s) were computed for the first four non-rapid eye movement periods. Slow wave characteristics comparisons between groups, derivations and non-rapid eye movement periods were assessed with three-way mixed ANOVAs. Slow wave density, amplitude, slope and duration were higher in anterior compared with most posterior derivations in both groups. Children with autism spectrum disorder showed lower differences in slow waves between recording sites along the anteroposterior axis than typically developing children. These group differences in the topography of slow wave characteristics were stable across the night. We propose that slow waves during non-rapid eye movement sleep could be an electrophysiological marker of the deviant cortical maturation in autism linked to an atypical functioning of thalamo-cortical networks.
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12. Lei J, Calley S, Brosnan M, Ashwin C, Russell A. {{Evaluation of a Transition to University Programme for Students with Autism Spectrum Disorder}}. {Journal of autism and developmental disorders}. 2018.
Applying to university can be an anxiety-provoking time for many autistic students, though enrolment can be increased by actively involving them in transition planning. We provide an evaluation of a transition to university pilot programme (Autism Summer School) for autistic students (16-19 years) who are seeking to apply/attend university. The content focused on introducing students to various aspects of university life including academic (sample lectures), social (e.g., clubs and societies), and daily living (eating in university canteen and staying in student accommodation). Students’ quantitative and qualitative feedback are positive and promising, showing significant reduction across a range of concerns related to transition to university after the programme, as well as general optimism related to starting university.
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13. Ma X, Chen K, Lu Z, Piechowicz M, Liu Q, Wu J, Qiu S. {{Disruption of MET Receptor Tyrosine Kinase, an Autism Risk Factor, Impairs Developmental Synaptic Plasticity in the Hippocampus}}. {Developmental neurobiology}. 2018.
As more genes conferring risks to neurodevelopmental disorders are identified, translating these genetic risk factors into biological mechanisms that impact the trajectory of the developing brain is a critical next step. Here, we report that disrupted signaling mediated MET receptor tyrosine kinase (RTK), an established risk factor for autism spectrum disorders, in the developing hippocampus glutamatergic circuit leads to profound deficits in neural development, synaptic transmission, and plasticity. In cultured hippocampus slices prepared from neonatal mice, pharmacological inhibition of MET kinase activity suppresses dendritic arborization and disrupts normal dendritic spine development. In addition, single-neuron knockdown (RNAi) or overexpression of Met in the developing hippocampal CA1 neurons leads to alterations, opposite in nature, in basal synaptic transmission and long-term plasticity. In forebrain-specific Met conditional knockout mice (Met(fx/fx) ;emx1(cre) ), an enhanced long-term potentiation (LTP) and long-term depression (LTD) were observed at early developmental stages (P12-14) at the Schaffer collateral to CA1 synapses compared with wild-type littermates. In contrast, LTP and LTD were markedly reduced at young adult stage (P56-70) during which wild-type mice show robust LTP and LTD. The altered trajectory of synaptic plasticity revealed by this study indicate that temporally regulated MET signaling as an intrinsic, cell autonomous, and pleiotropic mechanism not only critical for neuronal growth and functional maturation, but also for the timing of synaptic plasticity during forebrain glutamatergic circuits development.
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14. Mann C, Bletsch A, Andrews D, Daly E, Murphy C, Murphy D, Ecker C. {{The effect of age on vertex-based measures of the grey-white matter tissue contrast in autism spectrum disorder}}. {Molecular autism}. 2018; 9: 49.
Background: Histological evidence suggests that autism spectrum disorder (ASD) is accompanied by a reduced integrity of the grey-white matter boundary. This has also recently been confirmed by a structural neuroimaging study in vivo reporting significantly reduced grey-white matter tissue contrast (GWC) in adult individuals (18-42 years of age) with ASD relative to typically developing (TD) controls. However, it remains unknown whether the neuroanatomical differences in ASD at the grey-white matter boundary are stable across development or are age-dependent. Methods: Here, we examined differences in the neurodevelopmental trajectories of GWC in a cross-sectional sample of 77 male ASD individuals and 76 typically developing (TD) controls across childhood and early adulthood (from 7 to 25 years). Results: Using nested model comparisons, we first established that the developmental trajectory of GWC is complex in many regions across the cortex and includes linear and non-linear effects of age. Second, while ASD individuals have significantly reduced GWC overall, these differences are age-dependent and are most prominent during childhood (< 15 years). Conclusions: Taken together, our findings suggest that differences in GWC in ASD are unlikely to reflect atypical grey matter cytoarchitecture alone, but may also represent other aspects of the cortical architecture such as age-dependent variability in myelin integrity. Lien vers le texte intégral (Open Access ou abonnement)
15. Nagase K. {{Relationship Between Autism Spectrum Disorder Characteristics and Humor Appreciation in Typically Developing Individuals}}. {Psychological reports}. 2018: 33294118804999.
Extant research regarding humor appreciation in individuals with autism spectrum disorder has been equivocal. This study aims to clarify the relationship between the severity of autism spectrum disorder characteristics and humor appreciation in typically developing individuals. We hypothesized that the severity of autistic traits would have a U-shaped linear relationship with humor appreciation. Eighty typically developing undergraduates between the ages of 18 and 22 years ( Mage = 20.20; SDage = 1.08) were recruited for this study. They were asked to answer 24 statements, devised to measure humor appreciation, in response to a joke stimulus comprising 12 typically funny daily life occurrences (two statements per episode). The participants also responded to the Japanese version of the Autism-Spectrum Quotient. A significant U-shaped relationship was observed between the severity of autistic traits and appreciation of humor. A similar significant U-shaped relationship was seen between humor appreciation and the Autism-Spectrum Quotient subscales of attention switching, communication, and imagination. Humor appreciation showed no significant U-shaped relationship with the Autism-Spectrum Quotient subscales of social skills and local details. This study identified ways that autistic traits may influence how people appreciate humor. These findings are discussed in relation to cognitive processes underlying humor appreciation.
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16. Naidoo M, Singh S. {{The Oral health status of children with autism Spectrum disorder in KwaZulu-Nata, South Africa}}. {BMC oral health}. 2018; 18(1): 165.
BACKGROUND: Echoing the sentiments of the Sixty-seventh World Health Assembly of May 2014, mandating the all-inclusive and synchronized efforts for the management of autism spectrum disorder (ASD), the aim of this current study was to investigate the oral health status of children with ASD aged between 7 to 14 years in KwaZulu-Natal, South Africa. METHODS: An investigative cross-sectional quantitative design employing non-probability purposeful sampling was conducted on 149 children with ASD attending special needs schools in KwaZulu-Natal. An intra-oral examination to investigate decayed, missing and filled teeth (DMFT/dmft), gingival index (GI), and plaque index (PI), attrition and soft tissue trauma using the World Oral Health Survey Form for Children, (2013) was implemented during data collection. RESULTS: Average DMFT/dmft scores of 3, 42 and 0, 97 were recorded respectively. Molars dominated the decayed component of the DMFT/dmft with an average caries prevalence of (51, 7% and 40, 8%) respectively. These results displayed zero fillings indicative of unmet treatment needs. The gingival index revealed mild gingival inflammation, (46, 3%) and the plaque index demonstrated visible plaque at (43, 6%).Attrition scores revealed mild loss of dental enamel (47%). The most prevalent soft tissue trauma recorded was lip biting (37, 25%). CONCLUSION: Restorative or preventative treatment measures were not evident in this study. Unmet dental needs are therefore an important concern in this population. Health care planners should develop preventive programs targeted at high risk groups such as this study population.
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17. Ousset A, Bassand C, Chavez PF, Meeus J, Robin F, Schubert MA, Somville P, Dodou K. {{Development of a small-scale spray-drying approach for amorphous solid dispersions (ASDs) screening in early drug development}}. {Pharmaceutical development and technology}. 2018: 1-47.
The present study details the development of a small-scale spray-drying approach for the routine screening of amorphous solid dispersions (ASDs). This strategy aims to overcome the limitations of standard screening methodologies like solvent casting and quench cooling to predict drug-polymer miscibility of spray-dried solid dispersions (SDSDs) and therefore to guarantee appropriate carrier and drug-loading (DL) selection. A DoE approach was conducted to optimize process conditions of ProCept 4M8-TriX spray-drying to maximize the yield from a 100 mg batch of Itraconazole/HPMCAS-LF and Itraconazole/Soluplus 40:60 (w/w). Optimized process parameters include: inlet temperature, pump speed, drying and atomizing airflows. Identified process conditions derived from the DoE analysis were further i) tested with Itraconazole, Naproxen and seven polymers, ii) adapted for small cyclone use, iii) downscaled to 20 mg batch production. Drug-polymer miscibility was systematically characterized using modulated differential scanning calorimetry (mDSC). Spray-drying was identified as a well-suited screening approach: mean yield of 10.1 to 40.6% and 51.1 to 81.0% were obtained for 20 and 100 mg ASD productions, respectively. Additionally, this work demonstrates the interest to move beyond conventional screening approaches and integrate spray-drying during screening phases so that a greater prediction accuracy in terms of SDSDs miscibility and performance can be obtained.
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18. Reed P. {{Behavioural flexibility of children with Autism Spectrum Disorder on a card-sorting task with varying task difficulty}}. {Heliyon}. 2018; 4(10): e00842.
Inflexibility is taken to be a key characteristic of Autism Spectrum Disorder (ASD), although it is unclear which aspect of cognitive functioning is critical in this context. The current study investigated task-switching problems and inflexibility with a group of children with ASD, and a mental-aged matched control group. Participants (n = 50; mean age = 7 years) completed two card-sorting tasks, which involved learning to sort by either two or three possible dimensions, and then the sorting rule was switched although the number of dimensions required to sort the cards remained the same. Following the sorting rule change, the ASD group made more errors compared to controls. Errors were also related to task type (two or three dimensions), but this was not found to interact with ASD. If poor performance were solely dependent on executive function (working memory) problems in ASD, then a steeper decrease in performance with an increase in task difficulty for one group, compared to another group, would be expected. The current results suggest that task difficulty is an aspect of importance in set-shifting, but shifting is not differentially affected by this component.
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19. Roberts JE, Ezell JE, Fairchild AJ, Klusek J, Thurman AJ, McDuffie A, Abbeduto L. {{Biobehavioral composite of social aspects of anxiety in young adults with fragile X syndrome contrasted to autism spectrum disorder}}. {American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}. 2018.
Social anxiety is a common disorder that has negative impacts across multiple domains of function. Several clinical groups are at elevated risk for social anxiety, including those with fragile X syndrome and those with autism spectrum disorder. Measuring social anxiety in these clinical subgroups is fraught with challenge, however, given the complexity of social anxiety and measurement limitations that are particularly acute in persons with neurodevelopmental disorders. The over-arching aim of this study was to contribute to our understanding of the nature of social anxiety in fragile X syndrome and its association with autism spectrum disorder. To address this aim, we created a multi-faceted composite representing behavioral and biological aspects of social anxiety and examined differences in two adolescent and young adult-aged groups: 59 males with fragile X syndrome and 18 males with autism spectrum disorder. Results indicated a lower score on the multivariate composite for the males with fragile X syndrome relative to autism spectrum disorder but with evidence that traits of autism and social anxiety overlap. We conclude that measuring anxiety and autism traits in fragile X syndrome and autism spectrum disorder is complex with features that overlap and interact in a dynamic manner.
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20. Selick A, Durbin J, Casson I, Lee J, Lunsky Y. {{Barriers and facilitators to improving health care for adults with intellectual and developmental disabilities: what do staff tell us?}}. {Health promotion and chronic disease prevention in Canada : research, policy and practice}. 2018; 38(10): 349-57.
INTRODUCTION: Adults with intellectual and developmental disabilities (IDD) have high rates of morbidity and are less likely to receive preventive care. Emergency departments and primary care clinics are important entry points into the health care system. Improving care in these settings can lead to increased prevention activities, early disease identification, and ongoing management. We studied barriers and facilitators to improving the care of patients with IDD in three primary and three emergency care sites in Ontario. METHODS: Data sources included structured implementation logs at each site, focus groups (n = 5) and interviews (n = 8). Barriers and facilitators were coded deductively based on the Consolidated Framework for Implementation Research (CFIR). Synthesis to higher level themes was achieved through review and discussion by the research team. Focus was given to differences between higher and lower implementing sites. RESULTS: All sites were challenged to prioritize care improvement for a small, complex population and varied levels of implementation were achieved. Having national guidelines, using local data to demonstrate need and sharing evidence on value were important engagement strategies. Factors present at higher implementing sites included strong champions, alignment with site mandate, and use of electronic prompts/reminders. Lower implementing sites showed more passive endorsement of the innovation and had lower capacity to implement. CONCLUSION: Providing effective care for small, complex groups, such as adults with IDD, is critical to improving long-term health outcomes but is challenging to achieve. At a systemic level, funding incentives, access to expertise and improved electronic record systems may enhance capacity.
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21. Stahlhut M, Esbensen BA, Larsen JL, Bisgaard AM, Downs J, Nordmark E. {{Facilitators and Barriers of Participation in « Uptime » Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals}}. {Qualitative health research}. 2018: 1049732318803358.
Rett syndrome (RTT) is a rare neurodevelopmental disorder usually affecting females. It is associated with intellectual and multiple disabilities leading to a high level of dependency in all aspects of daily living including participation in physical activities. This study explored facilitators and barriers to « uptime » (non-sedentary) activities in Danish girls and women with RTT as perceived by parents and professionals using focus groups. Through thematic analysis, one central theme emerged: a constant balance to do the best thing for the girl or woman. Within the central theme, five subthemes of facilitators and barriers were identified relating to the individual and the physical, organizational, social, and attitudinal environments. Environmental barriers can be reduced through policy and management-level changes in health promotion and strong advocacy of physical activity by health professionals. Targeting both facilitators and barriers of « uptime » activities enables the planning and implementing of health-promoting interventions in individuals with RTT.
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22. Sulek R, Trembath D, Paynter J, Keen D. {{Empirically Supported Treatments for Students with Autism: General Education Teacher Knowledge, Use, and Social Validity Ratings}}. {Developmental neurorehabilitation}. 2018: 1-10.
OBJECTIVE: To examine teachers’ knowledge and use of empirically supported treatments (ESTs) for children with autism spectrum disorder (ASD), and the extent to which they deem them socially valid in general education settings. METHOD: Totally, 155 general education teachers completed an online survey examining knowledge, use, and perceived social validity of ESTs targeting school readiness skills. Sources of information accessed and the relationship of knowledge, use, and social validity with demographic variables were investigated. RESULTS: Teachers reported knowledge of, and were using, all ESTs. ESTs were used more frequently than non-ESTs. Knowledge, use, and social validity of ESTs were strongly associated. Teachers reported accessing a range of sources of information, with varying degrees of trust placed in these sources. CONCLUSION: Teachers’ knowledge of available ESTs for children with ASD is linked to their use. Increasing awareness of social validity of ESTs, and how they can be successfully translated into classroom settings will influence uptake.
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23. Sun C, Zou M, Li L, Li D, Ma Y, Xia W, Wu L, Ren H. {{Association study between inwardly rectifying potassium channels 2.1 and 4.1 and autism spectrum disorders}}. {Life sciences}. 2018.
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders involving structural and functional impairment of the brain. Inwardly rectifying potassium (Kir) channels may contribute to the etiology of ASD by altering brain function. This study investigated the associations between genetic variants of KCNJ2 and KCNJ10 genes (encoding Kir2.1 and Kir4.1, respectively) and ASD risk in patients, and Kir channel expression in ASD model rats. This case-control study involved a cohort of 269 Chinese children with ASD and 243 unrelated healthy controls. Twelve tag single nucleotide polymorphisms (SNPs) from the KCNJ2 and KCNJ10 genes were genotyped by Sequenom Mass Array, while a valproic acid (VPA)-induced rat model of ASD was used to evaluate Kir channel expression in the hippocampus. Among the 12 examined SNPs, only KCNJ10 rs1186689 was significantly associated with disease susceptibility; the variant T allele conferred a lower risk of developing ASD [odds ratio (OR)=0.61, 95% confidence interval (CI)=0.47-0.80, p false discovery rate (FDR)=0.012, and OR=0.63, 95% CI=0.48-0.84, pFDR=0.014 at the allelic and genotypic levels, respectively]. Additionally, hippocampal Kir2.1 and Kir4.1 levels were decreased in VPA as compared to control rats. These results demonstrated that KCNJ10 (rs1186689) polymorphisms was correlated with ASD susceptibility in Chinese Han children, and the abnormal expression of Kir2.1 and Kir4.1 in ASD model rats suggested a mechanism by which Kir channels may play a role in ASD.
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24. Thompson C, Bolte S, Falkmer T, Girdler S. {{Viewpoints on how students with autism can best navigate university}}. {Scandinavian journal of occupational therapy}. 2018: 1-12.
BACKGROUND: Despite recognition of the challenges faced by students with autism spectrum disorders (ASD) there is limited understanding of the barriers and facilitators to participation in major life areas, such as being a university student. AIM/OBJECTIVE: This research aimed to examine viewpoints on what affects the success of Australian university students with ASD. MATERIAL AND METHOD: Q-methodology was used to describe the viewpoints of university students with ASD, their parents and their mentors, on success at university for students with ASD. A total of 57 participants completed the Q-sort. RESULTS/FINDINGS: Three viewpoints emerged; Individualised Support, Contextual Support and Social Support. CONCLUSIONS: This study highlighted that supports need to be individualized to the barriers and facilitators faced by Australian students with ASD. Supports also need to be contextualized to the built and social environments of universities. SIGNIFICANCE: This study supports the premise that environmental interventions can be effective in facilitating participation in major life areas, such as university education. Peer mentoring for students with ASD may have utility for this group, but should be extended to include social, emotional and psychological support.
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25. Tsai PT, Rudolph S, Guo C, Ellegood J, Gibson JM, Schaeffer SM, Mogavero J, Lerch JP, Regehr W, Sahin M. {{Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors}}. {Cell reports}. 2018; 25(2): 357-67.e4.
Despite a prevalence exceeding 1%, mechanisms underlying autism spectrum disorders (ASDs) are poorly understood, and targeted therapies and guiding parameters are urgently needed. We recently demonstrated that cerebellar dysfunction is sufficient to generate autistic-like behaviors in a mouse model of tuberous sclerosis complex (TSC). Here, using the mechanistic target of rapamycin (mTOR)-specific inhibitor rapamycin, we define distinct sensitive periods for treatment of autistic-like behaviors with sensitive periods extending into adulthood for social behaviors. We identify cellular and electrophysiological parameters that may contribute to behavioral rescue, with rescue of Purkinje cell survival and excitability corresponding to social behavioral rescue. In addition, using anatomic and diffusion-based MRI, we identify structural changes in cerebellar domains implicated in ASD that correlate with sensitive periods of specific autism-like behaviors. These findings thus not only define treatment parameters into adulthood, but also support a mechanistic basis for the targeted rescue of autism-related behaviors.
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26. Zhao X, Zhang Y, Wilkins K, Edelmann W, Usdin K. {{MutLgamma promotes repeat expansion in a Fragile X mouse model while EXO1 is protective}}. {PLoS genetics}. 2018; 14(10): e1007719.
The Fragile X-related disorders (FXDs) are Repeat Expansion Diseases resulting from an expansion of a CGG-repeat tract at the 5′ end of the FMR1 gene. The mechanism responsible for this unusual mutation is not fully understood. We have previously shown that mismatch repair (MMR) complexes, MSH2/MSH3 (MutSbeta) and MSH2/MSH6 (MutSalpha), together with Polbeta, a DNA polymerase important for base excision repair (BER), are important for expansions in a mouse model of these disorders. Here we show that MLH1/MLH3 (MutLgamma), a protein complex that can act downstream of MutSbeta in MMR, is also required for all germ line and somatic expansions. However, exonuclease I (EXO1), which acts downstream of MutL proteins in MMR, is not required. In fact, a null mutation in Exo1 results in more extensive germ line and somatic expansions than is seen in Exo1+/+ animals. Furthermore, mice homozygous for a point mutation (D173A) in Exo1 that eliminates its nuclease activity but retains its native conformation, shows a level of expansion that is intermediate between Exo1+/+ and Exo1-/- animals. Thus, our data suggests that expansion of the FX repeat in this mouse model occurs via a MutLgamma-dependent, EXO1-independent pathway, with EXO1 protecting against expansion both in a nuclease-dependent and a nuclease-independent manner. Our data thus have implications for the expansion mechanism and add to our understanding of the genetic factors that may be modifiers of expansion risk in humans.
