1. Benitez-Burraco A, Murphy E. {{The Oscillopathic Nature of Language Deficits in Autism: From Genes to Language Evolution}}. {Front Hum Neurosci}. 2016; 10: 120.
Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders involving a number of deficits to linguistic cognition. The gap between genetics and the pathophysiology of ASD remains open, in particular regarding its distinctive linguistic profile. The goal of this article is to attempt to bridge this gap, focusing on how the autistic brain processes language, particularly through the perspective of brain rhythms. Due to the phenomenon of pleiotropy, which may take some decades to overcome, we believe that studies of brain rhythms, which are not faced with problems of this scale, may constitute a more tractable route to interpreting language deficits in ASD and eventually other neurocognitive disorders. Building on recent attempts to link neural oscillations to certain computational primitives of language, we show that interpreting language deficits in ASD as oscillopathic traits is a potentially fruitful way to construct successful endophenotypes of this condition. Additionally, we will show that candidate genes for ASD are overrepresented among the genes that played a role in the evolution of language. These genes include (and are related to) genes involved in brain rhythmicity. We hope that the type of steps taken here will additionally lead to a better understanding of the comorbidity, heterogeneity, and variability of ASD, and may help achieve a better treatment of the affected populations.
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2. Berman JI, Edgar JC, Blaskey L, Kuschner ES, Levy SE, Ku M, Dell J, Roberts TP. {{Multimodal Diffusion-MRI and MEG Assessment of Auditory and Language System Development in Autism Spectrum Disorder}}. {Front Neuroanat}. 2016; 10: 30.
BACKGROUND: Auditory processing and language impairments are prominent in children with autism spectrum disorder (ASD). The present study integrated diffusion MR measures of white-matter microstructure and magnetoencephalography (MEG) measures of cortical dynamics to investigate associations between brain structure and function within auditory and language systems in ASD. Based on previous findings, abnormal structure-function relationships in auditory and language systems in ASD were hypothesized. METHODS: Evaluable neuroimaging data was obtained from 44 typically developing (TD) children (mean age 10.4 +/- 2.4 years) and 95 children with ASD (mean age 10.2 +/- 2.6 years). Diffusion MR tractography was used to delineate and quantitatively assess the auditory radiation and arcuate fasciculus segments of the auditory and language systems. MEG was used to measure (1) superior temporal gyrus auditory evoked M100 latency in response to pure-tone stimuli as an indicator of auditory system conduction velocity, and (2) auditory vowel-contrast mismatch field (MMF) latency as a passive probe of early linguistic processes. RESULTS: Atypical development of white matter and cortical function, along with atypical lateralization, were present in ASD. In both auditory and language systems, white matter integrity and cortical electrophysiology were found to be coupled in typically developing children, with white matter microstructural features contributing significantly to electrophysiological response latencies. However, in ASD, we observed uncoupled structure-function relationships in both auditory and language systems. Regression analyses in ASD indicated that factors other than white-matter microstructure additionally contribute to the latency of neural evoked responses and ultimately behavior. RESULTS also indicated that whereas delayed M100 is a marker for ASD severity, MMF delay is more associated with language impairment. CONCLUSION: Present findings suggest atypical development of primary auditory as well as auditory language systems in ASD. Findings demonstrate the need for additional multimodal studies to better characterize the different structural features (white matter, gray matter, neurochemical concentration) that contribute to brain activity, both in typical development and in ASD. Finally, the neural latency measures were found to be of clinical significance, with M100 associated with overall ASD severity, and with MMF latency associated with language performance.
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3. de la Torre-Ubieta L, Won H, Stein JL, Geschwind DH. {{Advancing the understanding of autism disease mechanisms through genetics}}. {Nat Med}. 2016; 22(4): 345-61.
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has fueled remarkable advances in our understanding of its potential neurobiological mechanisms. Yet, at the same time, these findings highlight extraordinary causal diversity and complexity at many levels ranging from molecules to circuits and emphasize the gaps in our current knowledge. Here we review current understanding of the genetic architecture of ASD and integrate genetic evidence, neuropathology and studies in model systems with how they inform mechanistic models of ASD pathophysiology. Despite the challenges, these advances provide a solid foundation for the development of rational, targeted molecular therapies.
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4. Edmunds SR, Ibanez LV, Warren Z, Messinger DS, Stone WL. {{Longitudinal prediction of language emergence in infants at high and low risk for autism spectrum disorder}}. {Dev Psychopathol}. 2016: 1-11.
This study used a prospective longitudinal design to examine the early developmental pathways that underlie language growth in infants at high risk (n = 50) and low risk (n = 34) for autism spectrum disorder in the first 18 months of life. While motor imitation and responding to joint attention (RJA) have both been found to predict expressive language in children with autism spectrum disorder and those with typical development, the longitudinal relation between these capacities has not yet been identified. As hypothesized, results revealed that 15-month RJA mediated the association between 12-month motor imitation and 18-month expressive vocabulary, even after controlling for earlier levels of RJA and vocabulary. These results provide new information about the developmental sequencing of skills relevant to language growth that may inform future intervention efforts for children at risk for language delay or other developmental challenges.
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5. Humphreys P, Barrowman N. {{The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study}}. {Can J Neurol Sci}. 2016: 1-7.
BACKGROUND: Patients with Rett syndrome (RTT) may demonstrate parkinsonian features. Here, we report a preliminary cross-sectional and prospective evaluation of the evolution, regional distribution, and eventual incidence of rigid tone in a cohort of MECP2 mutation-positive patients. METHODS: In 51 participants, muscle tone rigidity in extremity regions and neck plus hypomimia were quantified using an RTT rigidity distribution (RTTRD) score with a range of 0 to 15. RTTRD scores were correlated with age, ability to walk and speak, mutation type, and, in a small subgroup (n=9), cerebrospinal fluid (CSF) homovanillic acid (HVA) and 5-hydroxyindole-acetic acid levels. RESULTS: Participant ages ranged from 2 years and 5 months, to 54 years. Rigidity was found in 43/51 (84.3%); it appeared as early as age 3, increased in extent with age, and was present in all participants aged >/=13. Ankle region rigidity appeared first, followed by proximal legs, arms, neck, and face. Ambulatory participants (n=21) had lower RTTRD scores than nonambulatory (n=30; p=0.003). We found a trend to lower scores in participants with retained speech (n=13) versus those with none (n=38; p=0.074), and no difference in scores for those with truncating (n=25) versus missense mutations (n=22; p=0.387). RTTRD scores correlated negatively with CSF HVA levels (R=-0.83; p=0.005), but not with 5-hydroxyindole-acetic acid levels (R=-0.45; p=0.22). CONCLUSIONS: Although assessment of muscle tone is somewhat subjective and the RTTRD has not been validated, this study nevertheless suggests that parkinsonian rigidity in RTT is common and frequently increases in extent with age; its severity correlates directly with impaired ambulation and inversely with CSF HVA levels.
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6. Kang JY, Kim R, Kim H, Kang Y, Hahn S, Fu Z, Khalid MI, Schenck E, Thesen T. {{Automated Tracking and Quantification of Autistic Behavioral Symptoms Using Microsoft Kinect}}. {Stud Health Technol Inform}. 2016; 220: 167-70.
The prevalence of autism spectrum disorder (ASD) has risen significantly in the last ten years, and today, roughly 1 in 68 children has been diagnosed. One hallmark set of symptoms in this disorder are stereotypical motor movements. These repetitive movements may include spinning, body-rocking, or hand-flapping, amongst others. Despite the growing number of individuals affected by autism, an effective, accurate method of automatically quantifying such movements remains unavailable. This has negative implications for assessing the outcome of ASD intervention and drug studies. Here we present a novel approach to detecting autistic symptoms using the Microsoft Kinect v.2 to objectively and automatically quantify autistic body movements. The Kinect camera was used to film 12 actors performing three separate stereotypical motor movements each. Visual Gesture Builder (VGB) was implemented to analyze the skeletal structures in these recordings using a machine learning approach. In addition, movement detection was hard-coded in Matlab. Manual grading was used to confirm the validity and reliability of VGB and Matlab analysis. We found that both methods were able to detect autistic body movements with high probability. The machine learning approach yielded highest detection rates, supporting its use in automatically quantifying complex autistic behaviors with multi-dimensional input.
7. Lanzoni L, Molon G, Canali G, Bonapace S, Barbieri E. {{Left atrial appendage closure in a patient with cor triatriatum and ASD: the added value of 3D echocardiography}}. {Eur Heart J Cardiovasc Imaging}. 2016.
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8. Lindsay S. {{Systematic review of factors affecting driving and motor vehicle transportation among people with autism spectrum disorder}}. {Disabil Rehabil}. 2016: 1-10.
PURPOSE: This systematic review is to critically appraise the literature on factors affecting driving and motor vehicle transportation experiences of people with autism spectrum disorders (ASD) and to provide insight into future directions for research. METHODS: Systematic searches of eight databases identified 22 studies meeting our inclusion criteria. These studies were analysed in terms of the characteristics of the participants, methodology, results of the study and quality of the evidence. RESULTS: Among the 22 studies, 2919 participants (364 individuals with ASD; 2555 parents of youth with ASD; mean age of person with ASD = 17.3) were represented, across six countries. Studies (n = 13) focused on factors affecting driving, including challenges in obtaining a licence, driving confidence, driving behaviours and strategies to improve driving skills. In regards to factors related to public and/or school transportation, nine studies explored rates of transportation use, access, cost and safety. CONCLUSION: Our findings highlight several gaps in the research and an urgent need for further transportation-related training and supports for people with ASD. Implications for rehabilitation Many people with ASD encounter challenges in obtaining a driver’s licence, driving confidence and driving performance compared to those without ASD. Several strategies can be useful when teaching people with ASD to drive including direct communication, encouraging coping mechanisms, breaking down tasks and providing regular and consistent driving lessons. Clinicians and educators should advocate for further transportation-related training and supports for people with ASD. More research is needed from the perspective of people with ASD to understand their experiences and the particular challenges that they encounter in obtaining a licence and navigating public transportation.
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9. Salomone E, Maurizio Arduino G. {{Parental attitudes to a telehealth parent coaching for autism spectrum disorder}}. {J Telemed Telecare}. 2016.
INTRODUCTION: This study examined the potential feasibility of tele-delivered parent coaching in a rural area of Italy through a survey of parents’ attitudes towards this type of intervention. METHODS: Parents of all children up to six years of age registered with a diagnosis of autism spectrum disorder at the clinic catering for the area were invited to take part in the study. The final sample consisted of 43 parents. RESULTS: Parents with worse Internet skills and those who reported lower levels of satisfaction with currently received services were less likely to be willing to enrol. There was a trend for parents with lower self-efficacy to be less likely to enrol. Educational level, previous experience of video-calling, travel time to the clinic and child’s level of ability were not associated with the choice of enrolment. DISCUSSION: Implications for strategies to contrast barriers to adoption and strengthen implementation plans are discussed.
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10. Samadi SA, Mohammad MP, Ghanimi F, McConkey R. {{The challenges of screening pre-school children for autism spectrum disorders in Iran}}. {Disabil Rehabil}. 2016: 1-9.
PURPOSE: Early identification and diagnosis of children with autism spectrum disorder is recommended, but this is difficult to achieve in less developed countries due to a lack of suitable tools and personnel. This two-phase study, undertaken in Iran, aimed to develop culturally appropriate and feasible means for screening pre-school children for autism spectrum disorder (ASD). METHOD: The first phase involved information and training events held in four cities to alert parents and to recruit and train professionals to undertake screenings and diagnostic assessments. In phase 2, a screening tool developed in Iran was administered to over 20 000 preschool children with the Iranian version of the GARS2 scale used to assess the probability of the child having ASD. RESULTS: Over 250 professionals were trained and assessed as competent screeners of whom a further 67 were trained and accredited to use GARS2. They included postgraduate students and practitioners from a range of disciplines. In all, 1579 children screened positive; however, only 130 parents brought their child for the diagnostic assessment of whom 22% had a high probability of having ASD. CONCLUSION: The feasibility of undertaking a screening programme for ASD with Iranian preschoolers has been demonstrated although further research is needed to refine the screening and diagnostic tools, monitor assessors and promote greater engagement of families. Implications for Rehabilitation Sizeable numbers of postgraduate students and practitioners were recruited to assist with the screening and assessments of preschoolers. The uptake of screening was highest among parents of four and five years olds but much less so for younger children and in bringing children for further assessments. Further research is needed into the development of more suitable screening and diagnostic tools for ASD with Iranian preschoolers and the training of assessors in their use.
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11. Scheer JK, Osorio JA, Smith JS, Schwab F, Lafage V, Hart RA, Bess S, Line B, Diebo BG, Protopsaltis TS, Jain A, Ailon T, Burton DC, Shaffrey CI, Klineberg E, Ames CP. {{Development of Validated Computer Based Pre-operative Predictive Model for Proximal Junction Failure (PJF) or Clinically Significant PJK with 86% Accuracy Based on 510 ASD Patients with 2-year Follow-up}}. {Spine (Phila Pa 1976)}. 2016.
STUDY DESIGN: Retrospective review of large, multicenter adult spinal deformity (ASD) database OBJECTIVE.: To build a model based on baseline demographic, radiographic, and surgical factors that can predict clinically significant proximal junctional kyphosis (PJK) and proximal junctional failure (PJF). SUMMARY OF BACKGROUND DATA: PJF and PJK are significant complications and it remains unclear what are the specific drivers behind the development of either. There exist no predictive model that could potentially aid in the clinical decision making for adult patients undergoing deformity correction. METHODS: Inclusion criteria: age >/=18, ASD, >/=4 levels fused. Variables included in the model were: demographics, primary/revision, use of 3-column osteotomy, UIV/LIV levels and UIV implant type (screw, hooks), number of levels fused, and baseline sagittal radiographs (PT, PI-LL, TK, and SVA). PJK was defined as an increase from baseline of proximal junctional angle >/= 20 degrees with concomitant deterioration of at least 1 SRS-Schwab sagittal modifier grade from 6wks postop. PJF was defined as requiring revision for PJK. An ensemble of decision trees were constructed using the C5.0 algorithm with 5 different bootstrapped models, and internally validated via a 70:30 data split for training and testing. Accuracy and the area under a receiver operator characteristic curve (AUC) were calculated. RESULTS: 510 patients were included, with 357 for model training and 153 as testing targets (PJF: 37, PJK: 102). The overall model accuracy was 86.3% with an AUC of 0.89 indicating a good model fit. The 7 strongest (importance >/=0.95) predictors were: age, LIV, pre-operative SVA, UIV implant type, UIV, pre-operative PT, and pre-operative PI-LL. CONCLUSIONS: A successful model (86% accuracy, 0.89 AUC) was built predicting either PJF or clinically significant PJK. This model can set the groundwork for preop point of care decision making, risk stratification, and need for prophylactic strategies for patients undergoing ASD surgery.
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12. Steenweg-de Graaff J, Tiemeier H, Ghassabian A, Rijlaarsdam J, Jaddoe VW, Verhulst FC, Roza SJ. {{Maternal Fatty Acid Status During Pregnancy and Child Autistic Traits The Generation R Study}}. {Am J Epidemiol}. 2016.
omega-3 and omega-6 polyunsaturated fatty acids are important for brain function and development. We examined whether maternal polyunsaturated fatty acid status during pregnancy affects risk of autistic traits in childhood. Within the Generation R cohort, we measured maternal plasma polyunsaturated fatty acid concentrations and the omega-3:omega-6 ratio in midpregnancy (Rotterdam, the Netherlands, 2001-2005). Child autistic traits at 6 years were assessed by using the Social Responsiveness Scale short form in 4,624 children. A lower maternal omega-3:omega-6 ratio during pregnancy was associated with more autistic traits in the offspring (beta = -0.008, 95% confidence interval: -0.016, -0.001). In particular, a higher total omega-6 and linoleic acid status were associated with more autistic traits (allP’s < 0.05). Associations were independent of child intelligence, suggesting that the fatty acid distribution specifically affects the development of autistic traits in addition to general neurodevelopment. Maternal plasma omega-3 status was not associated with child autistic traits and, consistently, neither was prenatal dietary fish intake. Our study shows that a lower prenatal omega-3:omega-6 ratio is associated with more child autistic traits, which is largely accounted for by higher omega-6 instead of lower omega-3 status. These results suggest a biological pathway between maternal fatty acid intake during pregnancy and autistic traits in the offspring. Lien vers le texte intégral (Open Access ou abonnement)
13. Wilkes-Gillan S, Joosten A. {{Technology-based interventions were found to have evidence of effectiveness on a range of outcomes, including social problem solving and facial and emotional processing skills for individuals with autism spectrum disorders}}. {Aust Occup Ther J}. 2016; 63(2): 135-6.
