1. Anwar MS, Tahir M, Nusrat K, Khan MR. {{Knowledge, Awareness, and Perceptions Regarding Autism Among Parents in Karachi, Pakistan}}. {Cureus}. 2018; 10(9): e3299.
Background The prevalence of autism is growing worldwide. Owing to parents being the primary caregivers in most situations, their ability to recognize the signs and symptoms of autism and respond appropriately is of paramount importance in aiming to provide the best healthcare to autistic individuals. This study was conducted with the aim of ascertaining the parent’s knowledge and awareness of autism. Methods A cross-sectional survey was conducted among parents residing in Karachi, Pakistan. We excluded any individuals belonging to the medical profession, those who have autistic children, and those who couldn’t completely comprehend English and Urdu. A sample size of 339 parents was selected. A validated and pre-tested questionnaire was administered among the study participants to record demographic information, knowledge, and perceptions regarding autism and its signs and symptoms. Data were analyzed using Statistical Package for Social Sciences (SPSS version 23.0, IBM Corp., Armonk, NY, US). A knowledge score was calculated for opinions about autism and its sign and symptoms individually to reflect a participant’s overall knowledge regarding autism. Results From our study population, 75% of our population had heard of autism, with those who knew of someone with the disorder displaying greater awareness. However, our participants displayed poor knowledge scores, with a mean score of 5.59 in the section concerning correct opinions on autism and that of 6.84 in the section testing knowledge of signs and symptoms. Despite this, 95.6% of the participants were willing to get their children treated, in the event of them being diagnosed with autism. Conclusion Unfortunately, our population displayed a lack of awareness and knowledge regarding autism. To fill this gap, awareness programs should be conducted to promote parent’s knowledge regarding autism, so as to allow for early diagnoses and an appropriate treatment plan/therapy. On a positive note, most were willing to get their children tested and treated in case of a diagnosis. However, only a small number of participants knew of autism centers in Karachi. General practitioners are needed to play a key role in counseling parents about autism.
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2. Bezgin G, Lewis JD, Evans AC. {{Developmental changes of cortical white-gray contrast as predictors of autism diagnosis and severity}}. {Translational psychiatry}. 2018; 8(1): 249.
Recent studies suggest that both cortical gray and white-matter microstructural characteristics are distinct for subjects with autism. There is a lack of evidence regarding how these characteristics change in a developmental context. We analysed a longitudinal/cross-sectional dataset of 402 magnetic resonance imaging (MRI) scans (171 subjects with autism and 231 with typical development) from the Autism Brain Imaging Data Exchange, cohorts I-II (ABIDE-I-II). In the longitudinal sample, we computed the rate of change in the white-gray contrast, a measure which has been related to age and cognitive performance, at the boundary of the cerebral cortex. Then, we devised an analogous metric for the cross-sectional sample of the ABIDE dataset to measure age-related differences in cortical contrast. Further, we developed a probabilistic model to predict the diagnostic group in the longitudinal sample of the cortical contrast change data, using results obtained from the cross-sectional sample. In both subsets, we observed a similar overall pattern of greater decrease within the autistic population in intensity contrast for most cortical regions (81%), with occasional increases, mostly in primary sensory regions. This pattern correlated well with raw and calibrated behavioural scores. The prediction results show 76% accuracy for the whole-cortex diagnostic prediction and 86% accuracy in prediction using the motor system alone. Our results support a contrast change analysis strategy that appears sensitive in predicting diagnostic outcome and symptom severity in autism spectrum disorder, and is readily extensible to other MRI-based studies of neurodevelopmental cohorts.
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3. Black MH, Almabruk T, Albrecht MA, Chen NT, Lipp OV, Tan T, Bolte S, Girdler S. {{Altered Connectivity in Autistic Adults during Complex Facial Emotion Recognition: A Study of EEG Imaginary Coherence}}. {Conference proceedings : Annual International Conference of the IEEE Engineering in Medicine and Biology Society IEEE Engineering in Medicine and Biology Society Annual Conference}. 2018; 2018: 2752-5.
Difficulties in Facial Emotion Recognition (FER) are commonly associated with individuals diagnosed with Autism Spectrum Disorder (ASD). However, the mechanisms underlying these impairments remain inconclusive. While atypical cortical connectivity has been observed in autistic individuals, there is a paucity of investigation during cognitive tasks such as FER. It is possible that atypical cortical connectivity may underlie FER impairments in this population. Electroencephalography (EEG) Imaginary Coherence was examined in 22 autistic adults and 23 typically developing (TD) matched controls during a complex, dynamic FER task. Autistic adults demonstrated reduced coherence between both short and long range inter-hemispheric electrodes. By contrast, short range intra-hemispheric connectivity was increased in frontal and occipital regions during FER. These findings suggest altered network functioning in ASD.
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4. Bokobza C, Van Steenwinckel J, Mani S, Mezger V, Fleiss B, Gressens P. {{Neuroinflammation in preterm babies and autism spectrum disorders}}. {Pediatric research}. 2018.
Genetic anomalies have a role in autism spectrum disorders (ASD). Each genetic factor is responsible for a small fraction of cases. Environment factors, like preterm delivery, have an important role in ASD. Preterm infants have a 10-fold higher risk of developing ASD. Preterm birth is often associated with maternal/fetal inflammation, leading to a fetal/neonatal inflammatory syndrome. There are demonstrated experimental links between fetal inflammation and the later development of behavioral symptoms consistent with ASD. Preterm infants have deficits in connectivity. Most ASD genes encode synaptic proteins, suggesting that ASD are connectivity pathologies. Microglia are essential for normal synaptogenesis. Microglia are diverted from homeostatic functions towards inflammatory phenotypes during perinatal inflammation, impairing synaptogenesis. Preterm infants with ASD have a different phenotype from term born peers. Our original hypothesis is that exposure to inflammation in preterm infants, combined with at risk genetic background, deregulates brain development leading to ASD.
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5. Carlson C, Suliman A, Alivar A, Prakash P, Thompson D, Natarajan B, Warren S. {{A Pilot Study of an Unobtrusive Bed-Based Sleep Quality Monitor for Severely Disabled Autistic Children}}. {Conference proceedings : Annual International Conference of the IEEE Engineering in Medicine and Biology Society IEEE Engineering in Medicine and Biology Society Annual Conference}. 2018; 2018: 4343-6.
The link between daytime performance and sleep quality for severely disabled autistic children is not entirely understood. This paper presents nighttime data collected from a child with severe disabilities during a three-night pilot study conducted at Heartspring, Wichita, KS, using a bed-based system capable of unobtrusively tracking parameters for sleep quality assessment. The ‘average sample correlation coefficient signal-to-noise ratio’ is compared for ballistocardiograms acquired using four electromechanical film sensors versus four load cell sensors. The « best » signal or sensing modality depends on the subject’s sleeping position. These results affirm the importance of a bed system that is robust in its ability to track sleep quality accurately regardless of sleeping position.
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6. Chen J, Cohn ES, Orsmond GI. {{Parents’ future visions for their autistic transition-age youth: Hopes and expectations}}. {Autism : the international journal of research and practice}. 2018: 1362361318812141.
Researchers have documented that young adults with autism spectrum disorder have poor outcomes in employment, post-secondary education, social participation, independent living, and community participation. There is a need to further explore contributing factors to such outcomes to better support successful transitions to adulthood. Parents play a critical role in transition planning, and parental expectations appear to impact young adult outcomes for autistic individuals. The aim of this study was to explore how parents express their future visions (i.e. hopes and expectations) for their autistic transition-age youth. Data were collected through focus groups and individual interviews with 18 parents. Parents’ hopes and expectations focused on eight primary domains. In addition, parents often qualified or tempered their stated hope with expressions of fears, uncertainty, realistic expectations, and the perceived lack of guidance. We discuss our conceptualization of the relations among these themes and implications for service providers and research.
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7. Craig F, Savino R, Trabacca A. {{A systematic review of comorbidity between cerebral palsy, autism spectrum disorders and Attention Deficit Hyperactivity Disorder}}. {European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society}. 2018.
OBJECTIVES: The aim of this systematic review was to examine the incidence and prevalence of comorbidity between Cerebral Palsy (CP), Autism spectrum disorders (ASDs) and Attention-Deficit/Hyperactivity Disorder (ADHD). METHODS: We searched for articles indexed in PubMed, EBSCOhost, Scopus, Web of Science and other potentially relevant internet sources using a combination of expressions including « cerebral palsy » AND « autism » OR « ASD » OR « pervasive development disorder » AND « Attention Deficit Hyperactivity Disorder » OR « ADHD ». RESULTS: We identified 2542 studies on CP and ASD and 998 studies on CP and ADHD. After screening titles and abstracts and removing duplicated studies, 47 full papers (CP and ASD n = 28; CP and ADHD n = 19) were downloaded and screened for eligibility. Twenty-eight (CP and ASD n = 16; CP and ADHD n = 12) studies were identified in the peer-review literature. Based on this systematic review, ASD and ADHD seem to be more common in people with CP than in the general population, yet the gold standard methods for diagnosing ASD or ADHD are not suitable for children with motor problems. CONCLUSIONS: Assessing the occurrence of ASD and ADHD would improve the significant cost of healthcare, therapies, and overall daily living for families with children affected by CP. However, psychometric studies are needed in the future to promote development of measures suitable for individuals with CP. In addition, this review highlights the paucity of peer-reviewed studies investigating the occurrence of ASD and ADHD in children with different CP subtypes or functional abilities, and there are still some open questions about pathogenic mechanisms common to CP, ASD and ADHD.
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8. Dai M, Lin L, Liang J, Wang Z, Jing J. {{Gender Difference in the Association Between Executive Function and Autistic Traits in Typically Developing Children}}. {Journal of autism and developmental disorders}. 2018.
Autistic traits and executive function (EF) were assessed in 413 typically developing children aged 6-9 years. The children were divided into the high- autistic-trait (HAT) and low-autistic-trait (LAT) groups based on their total autistic traits. Results suggested that there were gender differences in specific autistic traits in children with LAT. There were gender-specific associations between EF and autistic traits in children with HAT: the set shifting of EF predicted difficulties in social awareness in boys; whereas all the EF components predicted difficulties in social communication and social cognition in girls. These findings may have implications for developing customized interventions that are targeted at specific autistic deficits in males and females.
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9. D’Haene E, Bar-Yaacov R, Bariah I, Vantomme L, Van Loo S, Cobos FA, Verboom K, Eshel R, Alatawna R, Menten B, Birnbaum RY, Vergult S. {{A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics}}. {Human molecular genetics}. 2018.
Mutations in myocyte enhancer factor 2C (MEF2C), an important transcription factor in neurodevelopment, are associated with a Rett-like syndrome. Structural variants (SVs) upstream of MEF2C, that do not disrupt the gene itself, have also been found in patients with a similar phenotype, suggesting that disruption of MEF2C regulatory elements can also cause a Rett-like phenotype. To characterize those elements that regulate MEF2C during neural development and which are affected by these SVs, we used genomic tools coupled with both in vitro and in vivo functional assays. Through 4C-seq and ATAC-seq, we revealed a complex interaction network in which the MEF2C promoter physicallycontacts several distal enhancers that are deleted or translocated by disease-associated SVs. Sixteen selected candidate regulatory sequences were tested for enhancer activity in vitro, with fourteen found to be functional enhancers. Further analyses of their in vivo activity in zebrafish showed that each of these enhancers has a distinct activity pattern during development, with eight enhancers displaying neuronal activity. In summary, our results disentangle a complex regulatory network governing neuronalMEF2Cexpression that involves multiple distal enhancers. In addition, the characterized neuronal enhancers pose as novel candidates to screen for mutations in neuro developmental disorders, such as Rett-likesyndrome.
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10. Franke KB, Hills K, Huebner ES, Flory K. {{Life Satisfaction in Adolescents with Autism Spectrum Disorder}}. {Journal of autism and developmental disorders}. 2018.
We provided evidence regarding the reliability and validity of measures of assets and life satisfaction (LS) for adolescents with autism spectrum disorder (ASD). We identified levels of LS within this population, compared these levels to those of typically developing adolescents, and described the relation between assets and LS. Forty-six adolescents with ASD and their caregivers completed questionnaires assessing LS and assets. Preliminary support was provided for the internal consistency reliability and validity of these measures in adolescents with ASD. Youth with ASD reported moderate to high levels of LS; these were lower than those of typically developing peers. Age moderated the relation between self-reported LS and some assets. Implications were discussed within the context of Schalock’s (J Disabil Policy Stud 14:204-215, 2004) emerging disability paradigm.
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11. Fredo ARJ, Jahedi A, Reiter M, Muller RA. {{Diagnostic Classification of Autism using Resting-State fMRI Data and Conditional Random Forest}}. {Conference proceedings : Annual International Conference of the IEEE Engineering in Medicine and Biology Society IEEE Engineering in Medicine and Biology Society Annual Conference}. 2018; 2018: 1148-51.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is associated with atypical connectivity within and between brain regions. In this study, we attempted to classify functional Magnetic Resonance Images (fMRI) of Typically Developing (TD) and ASD participants using conditional random forest and random forest. Restingstate fMRI images of TD and ASD participants (N=320 for training and N=80 for validation) were obtained from the Autism Imaging Data Exchange; ABIDE-I, ABIDE-II. Images were preprocessed using a standard pipeline. A Functional Connectivity (FC) matrix was calculated using 237 cortical, subcortical, and cerebellar Regions of Interest (ROIs). The dimensionality of the FC matrix was reduced using conditional random forests and at each dimension classification accuracy was tested using random forests. Results suggest that in the current dataset, the random forest is able to classify the TD and ASD with a peak accuracy of 65% using 143 features. Remarkably, the Cingulo-Opercular Task Control (COTC) region contributed the highest number of features linked to more accurate classification, and connectivity between COTC and the dorsal attention network distinguished ASD and TD participants.
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12. Galazka MA, Asberg Johnels J, Zurcher NR, Hippolyte L, Lemonnier E, Billstedt E, Gillberg C, Hadjikhani N. {{Pupillary Contagion in Autism}}. {Psychological science}. 2018: 956797618809382.
Pupillary contagion is an involuntary change in the observer’s pupil size in response to the pupil size of another person. This effect, presumed to be an important adaption for individuals living in groups, has been documented in both typical infants and adults. Here, for the first time, we report pupillary contagion in individuals with autism, a disorder of social communication. We found that, compared with a typical group ( n = 63), individuals with autism ( n = 54) exhibited comparable pupillary contagion when observing pictures of emotional faces, despite less spontaneous attention toward the eye region. Furthermore, the magnitude of the pupillary response in the autism group was negatively correlated with time spent fixating the eye region. The results suggest that even with less looking toward the eyes, individuals with autism respond to the affective and arousal levels transmitted from other individuals. These results are discussed in the context of an overarousal account of socioaffective-processing differences in autism.
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13. Goel A, Cantu DA, Guilfoyle J, Chaudhari GR, Newadkar A, Todisco B, de Alba D, Kourdougli N, Schmitt LM, Pedapati E, Erickson CA, Portera-Cailliau C. {{Author Correction: Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible}}. {Nature neuroscience}. 2018.
The original and corrected Acknowledgements are shown in the accompanying Author Correction.
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14. Haslinger D, Waltes R, Yousaf A, Lindlar S, Schneider I, Lim CK, Tsai MM, Garvalov BK, Acker-Palmer A, Krezdorn N, Rotter B, Acker T, Guillemin GJ, Fulda S, Freitag CM, Chiocchetti AG. {{Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model}}. {Molecular autism}. 2018; 9: 56.
Background: Altered neuronal development is discussed as the underlying pathogenic mechanism of autism spectrum disorders (ASD). Copy number variations of 16p11.2 have recurrently been identified in individuals with ASD. Of the 29 genes within this region, quinolinate phosphoribosyltransferase (QPRT) showed the strongest regulation during neuronal differentiation of SH-SY5Y neuroblastoma cells. We hypothesized a causal relation between this tryptophan metabolism-related enzyme and neuronal differentiation. We thus analyzed the effect of QPRT on the differentiation of SH-SY5Y and specifically focused on neuronal morphology, metabolites of the tryptophan pathway, and the neurodevelopmental transcriptome. Methods: The gene dosage-dependent change of QPRT expression following Chr16p11.2 deletion was investigated in a lymphoblastoid cell line (LCL) of a deletion carrier and compared to his non-carrier parents. Expression of QPRT was tested for correlation with neuromorphology in SH-SY5Y cells. QPRT function was inhibited in SH-SY5Y neuroblastoma cells using (i) siRNA knockdown (KD), (ii) chemical mimicking of loss of QPRT, and (iii) complete CRISPR/Cas9-mediated knock out (KO). QPRT-KD cells underwent morphological analysis. Chemically inhibited and QPRT-KO cells were characterized using viability assays. Additionally, QPRT-KO cells underwent metabolite and whole transcriptome analyses. Genes differentially expressed upon KO of QPRT were tested for enrichment in biological processes and co-regulated gene-networks of the human brain. Results: QPRT expression was reduced in the LCL of the deletion carrier and significantly correlated with the neuritic complexity of SH-SY5Y. The reduction of QPRT altered neuronal morphology of differentiated SH-SY5Y cells. Chemical inhibition as well as complete KO of the gene were lethal upon induction of neuronal differentiation, but not proliferation. The QPRT-associated tryptophan pathway was not affected by KO. At the transcriptome level, genes linked to neurodevelopmental processes and synaptic structures were affected. Differentially regulated genes were enriched for ASD candidates, and co-regulated gene networks were implicated in the development of the dorsolateral prefrontal cortex, the hippocampus, and the amygdala. Conclusions: In this study, QPRT was causally related to in vitro neuronal differentiation of SH-SY5Y cells and affected the regulation of genes and gene networks previously implicated in ASD. Thus, our data suggest that QPRT may play an important role in the pathogenesis of ASD in Chr16p11.2 deletion carriers.
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15. Healy S, Garcia JM, Haegele JA. {{Environmental Factors Associated with Physical Activity and Screen Time Among Children With and Without Autism Spectrum Disorder}}. {Journal of autism and developmental disorders}. 2018.
This study aimed to examine how environmental factors are associated with physical activity (PA) and screen-time (ST) among children with and without ASD (n = 1380 and 1411, respectively). For TD children, the absence of a bedroom television and neighborhood support were associated with PA. For children with ASD, no environmental factors were associated with PA. Regarding ST, the presence of a bedroom television, absence of limits on ST, lack of neighborhood amenities and support, and adverse neighborhood factors were all associated with ST among TD children. For children with ASD, the presence of a bedroom television and the absence of limits on ST were associated with ST. Potential explanations for this dichotomy and suggestions for future research are discussed.
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16. Matheis M, Matson JL, Hong E, Cervantes PE. {{Gender Differences and Similarities: Autism Symptomatology and Developmental Functioning in Young Children}}. {Journal of autism and developmental disorders}. 2018.
A growing body of research suggests that symptoms of autism spectrum disorder (ASD) may present differently in males and females. This study examined gender differences in ASD symptoms and developmental functioning, using the Baby and Infant Screen for Children with aUtism Traits, Part 1 (BISCUIT-Part 1) and the Battelle Developmental Inventory, 2nd Edition (BDI-2), amongst children aged 17-37 months meeting ASD diagnostic criteria (n = 1317). No gender differences were found in regards to overall symptom severity or symptom domains on the BISCUIT-Part 1 when gender groups were matched by cognitive ability. Females with ASD had greater motor deficits and less communication impairment compared to their male counterparts as measured by the BDI-2. Secondary analyses examining item endorsement patterns were also conducted. Implications of the findings are discussed.
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17. McKinnon CJ, Eggebrecht AT, Todorov A, Wolff JJ, Elison JT, Adams CM, Snyder AZ, Estes AM, Zwaigenbaum L, Botteron KN, McKinstry RC, Marrus N, Evans A, Hazlett HC, Dager SR, Paterson SJ, Pandey J, Schultz RT, Styner MA, Gerig G, Schlaggar BL, Petersen SE, Piven J, Pruett JR, Jr. {{Restricted and Repetitive Behavior and Brain Functional Connectivity in Infants at Risk for Developing Autism Spectrum Disorder}}. {Biological psychiatry Cognitive neuroscience and neuroimaging}. 2018.
BACKGROUND: Restricted and repetitive behaviors (RRBs), detectable by 12 months in many infants in whom autism spectrum disorder (ASD) is later diagnosed, may represent some of the earliest behavioral markers of ASD. However, brain function underlying the emergence of these key behaviors remains unknown. METHODS: Behavioral and resting-state functional connectivity (fc) magnetic resonance imaging data were collected from 167 children at high and low familial risk for ASD at 12 and 24 months (n = 38 at both time points). Twenty infants met criteria for ASD at 24 months. We divided RRBs into four subcategories (restricted, stereotyped, ritualistic/sameness, self-injurious) and used a data-driven approach to identify functional brain networks associated with the development of each RRB subcategory. RESULTS: Higher scores for ritualistic/sameness behavior were associated with less positive fc between visual and control networks at 12 and 24 months. Ritualistic/sameness and stereotyped behaviors were associated with less positive fc between visual and default mode networks at 12 months. At 24 months, stereotyped and restricted behaviors were associated with more positive fc between default mode and control networks. Additionally, at 24 months, stereotyped behavior was associated with more positive fc between dorsal attention and subcortical networks, whereas restricted behavior was associated with more positive fc between default mode and dorsal attention networks. No significant network-level associations were observed for self-injurious behavior. CONCLUSIONS: These observations mark the earliest known description of functional brain systems underlying RRBs, reinforce the construct validity of RRB subcategories in infants, and implicate specific neural substrates for future interventions targeting RRBs.
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18. Min CH, Fetzner J. {{Vocal Stereotypy Detection: An Initial Step to Understanding Emotions of Children with Autism Spectrum Disorder}}. {Conference proceedings : Annual International Conference of the IEEE Engineering in Medicine and Biology Society IEEE Engineering in Medicine and Biology Society Annual Conference}. 2018; 2018: 3306-9.
A system has been developed to automatically record and detect behavioral patterns and vocal stereotypy which is also known as vocal stimming, a non-verbal vocalization often observed in children with Autism Spectrum Disorder (ASD). The system incorporates audio, video and wearable accelerometer based sensors. Microphones and video camera were used to collect data and were used for analysis. KSVD, which is a generalized version of the k-means clustering algorithms for dictionary learning, was used to detect vocal stereotypy. Observing the subspace that the data lives in allows us to detect vocal stimming and sounds of frustration. The proposed system was able to detect vocalized stimming with detection rate between 73 – 93 percent.
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19. Ozdenizci O, Cumpanasoiu C, Mazefsky C, Siegel M, Erdoggmus D, Ioannidis S, Goodwin MS. {{Time-Series Prediction of Proximal Aggression Onset in Minimally-Verbal Youth with Autism Spectrum Disorder Using Physiological Biosignals}}. {Conference proceedings : Annual International Conference of the IEEE Engineering in Medicine and Biology Society IEEE Engineering in Medicine and Biology Society Annual Conference}. 2018; 2018: 5745-8.
It has been suggested that changes in physiological arousal precede potentially dangerous aggressive behavior in youth with autism spectrum disorder (ASD) who are minimally verbal (MV-ASD). The current work tests this hypothesis through time-series analyses on biosignals acquired prior to proximal aggression onset. We implement ridge-regularized logistic regression models on physiological biosensor data wirelessly recorded from 15 MV-ASD youth over 64 independent naturalistic observations in a hospital inpatient unit. Our results demonstrate proof-of-concept, feasibility, and incipient validity predicting aggression onset 1 minute before it occurs using global, person-dependent, and hybrid classifier models.
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20. Shou G, Mosconi MW, Ethridge LE, Sweeney JA, Ding L. {{Resting-state Gamma-band EEG Abnormalities in Autism()}}. {Conference proceedings : Annual International Conference of the IEEE Engineering in Medicine and Biology Society IEEE Engineering in Medicine and Biology Society Annual Conference}. 2018; 2018: 1915-8.
Gamma-band rhythmic abnormalities have been of significant interests in autism spectrum disorders (ASD). Most studies used magnetoencephalography (MEG) due to its advantage in measuring weak gamma signals as compared to electroencephalography (EEG). However, EEG is more accessible, portable, and importantly, more sensitive to cortical sources located at the crowns of gyri, than MEG. Therefore, it is extremely valuable if EEG can be used to detect gamma-band abnormalities in ASD, which could provide complementary insights on pathology of ASD. One challenge in detecting gamma-band neural activities is to remove muscular artifacts, which share the same frequency band. In the present study, we used a previously developed time-frequency independent component analysis (ICA)approach to probe EEG gamma-band abnormalities in ASD. We examined functional connectivity (FC) patterns on intrinsic connectivity networks (ICNs), i.e., the ICs representing distributed neural activities obtained from ICA, using the metrics of spectral power of individual ICNs and coherence between different ICNs. Seven ICNs that reassembled ICNs obtained from EEG data in the band of 2-30 Hz, were successfully identified in the gamma-band (31-50 Hz) data by the approach. Local over-connectivity in the bilateral frontal and left parietal ICNs, as well as long-range under-connectivity between left and right motor ICNs, were observed in ASD. In addition, the age-related effect was identified in the left motor and left parietal ICNs in healthy control, but not in ASD. These findings demonstrated a mixed pattern of gamma-band FC changes in ASD. It further indicated that the developed approach is promising in reconstructing gamma-band patterns from resting-state EEG signals.
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21. Simoes M, Monteiro R, Andrade J, Mouga S, Franca F, Oliveira G, Carvalho P, Castelo-Branco M. {{A Novel Biomarker of Compensatory Recruitment of Face Emotional Imagery Networks in Autism Spectrum Disorder}}. {Frontiers in neuroscience}. 2018; 12: 791.
Imagery of facial expressions in Autism Spectrum Disorder (ASD) is likely impaired but has been very difficult to capture at a neurophysiological level. We developed an approach that allowed to directly link observation of emotional expressions and imagery in ASD, and to derive biomarkers that are able to classify abnormal imagery in ASD. To provide a handle between perception and action imagery cycles it is important to use visual stimuli exploring the dynamical nature of emotion representation. We conducted a case-control study providing a link between both visualization and mental imagery of dynamic facial expressions and investigated source responses to pure face-expression contrasts. We were able to replicate the same highly group discriminative neural signatures during action observation (dynamical face expressions) and imagery, in the precuneus. Larger activation in regions involved in imagery for the ASD group suggests that this effect is compensatory. We conducted a machine learning procedure to automatically identify these group differences, based on the EEG activity during mental imagery of facial expressions. We compared two classifiers and achieved an accuracy of 81% using 15 features (both linear and non-linear) of the signal from theta, high-beta and gamma bands extracted from right-parietal locations (matching the precuneus region), further confirming the findings regarding standard statistical analysis. This robust classification of signals resulting from imagery of dynamical expressions in ASD is surprising because it far and significantly exceeds the good classification already achieved with observation of neutral face expressions (74%). This novel neural correlate of emotional imagery in autism could potentially serve as a clinical interventional target for studies designed to improve facial expression recognition, or at least as an intervention biomarker.
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22. Smith AM, King JJ, West PR, Ludwig MA, Donley ELR, Burrier RE, Amaral DG. {{Amino Acid Dysregulation Metabotypes: Potential Biomarkers for Diagnosis and Individualized Treatment for Subtypes of Autism Spectrum Disorder}}. {Biological psychiatry}. 2018.
BACKGROUND: Autism spectrum disorder (ASD) is behaviorally and biologically heterogeneous and likely represents a series of conditions arising from different underlying genetic, metabolic, and environmental factors. There are currently no reliable diagnostic biomarkers for ASD. Based on evidence that dysregulation of branched-chain amino acids (BCAAs) may contribute to the behavioral characteristics of ASD, we tested whether dysregulation of amino acids (AAs) was a pervasive phenomenon in individuals with ASD. This is the first article to report results from the Children’s Autism Metabolome Project (CAMP), a large-scale effort to define autism biomarkers based on metabolomic analyses of blood samples from young children. METHODS: Dysregulation of AA metabolism was identified by comparing plasma metabolites from 516 children with ASD with those from 164 age-matched typically developing children recruited into the CAMP. ASD subjects were stratified into subpopulations based on shared metabolic phenotypes associated with BCAA dysregulation. RESULTS: We identified groups of AAs with positive correlations that were, as a group, negatively correlated with BCAA levels in ASD. Imbalances between these two groups of AAs identified three ASD-associated amino acid dysregulation metabotypes. The combination of glutamine, glycine, and ornithine amino acid dysregulation metabotypes identified a dysregulation in AA/BCAA metabolism that is present in 16.7% of the CAMP subjects with ASD and is detectable with a specificity of 96.3% and a positive predictive value of 93.5% within the ASD subject cohort. CONCLUSIONS: Identification and utilization of metabotypes of ASD can lead to actionable metabolic tests that support early diagnosis and stratification for targeted therapeutic interventions.
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23. Teti M, Cheak-Zamora N, Bauerband LA, Maurer-Batjer A. {{A Qualitative Comparison of Caregiver and Youth with Autism Perceptions of Sexuality and Relationship Experiences}}. {Journal of developmental and behavioral pediatrics : JDBP}. 2018.
OBJECTIVES: Caregivers play a critical role in educating their youth with autism about sex and relationships; yet, we know little about caregivers’ ability to deliver this support, youth’s perspectives, or the congruence of youth and caregiver experiences. To help fill this gap, we explored and compared the perspectives of caregivers and their youth with autism spectrum disorder about and interactions regarding sex and relationships. METHODS: We conducted qualitative one-on-one interviews with youth (n = 27) and focus groups with their caregivers (n = 29). A semi-structured guide elicited information from both the groups about the youth’s physical, emotional, and social transition to adulthood. Thematic analysis, including coding and analytical memos, identified key themes within and across youth and caregiver discussions about sex and relationships. RESULTS: Thematic analysis of interviews revealed overarching themes about companionship, interest and experience, and access to sexual information across both the groups. Themes included different nuances among caregivers and youth, however. Caregivers expressed more future-oriented concerns than youth and overestimated their knowledge of their youth’s interest and experience with sex and comfort confiding in caregivers. Youth described relationships and information sources of which their caregivers were unaware. CONCLUSION: Interventions for both caregivers and youth can support healthy and safe intimate relationships among youth with autism spectrum disorder. By comparing youth and caregiver dialogues, this study adds to what we know, and it can be used to develop a blueprint for improving communication patterns that not only include but also extend well beyond sexual health.
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24. Vazquez LM, Khanlou N, Davidson D, Aidarus F. {{Strategies to Promote the Inclusion of Young Adults With Developmental Disabilities in Community-Based Health Studies}}. {Qualitative health research}. 2018: 1049732318808249.
We discuss strategies to promote the inclusion of people with developmental disabilities (DDs) in qualitative community-based research studies. Strategies were applied in three projects conducted between 2012 and 2017 that addressed issues of socioeconomic challenges, discrimination, and exclusion of children and young adults with developmental disabilities (YADD). Strategies included partnership with community organizations; inclusion of YADD, family caregivers (FCs), and service providers in advisory committees (ACs); and strategies to accommodate YADD. As part of our contribution, we discuss issues of invisibility and exclusion of individuals with DDs who have « low » functioning capacities. There is a need to review studies sampling inclusion criteria as they may constitute a barrier for participation. Preference for sampling « high » functioning individuals may reinforce exclusion in research, and replicate broader patterns of socioeconomic exclusion of individuals with disabilities. Our discussion of inclusive research is informed by critical disability studies and the underlying principle « nothing about us without us. »
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25. Waddington F, Hartman C, de Bruijn Y, Lappenschaar M, Oerlemans A, Buitelaar J, Franke B, Rommelse N. {{An emotion recognition subtyping approach to studying the heterogeneity and comorbidity of autism spectrum disorders and attention-deficit/hyperactivity disorder}}. {Journal of neurodevelopmental disorders}. 2018; 10(1): 31.
BACKGROUND: Emotion recognition dysfunction has been reported in both autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). This suggests that emotion recognition is a cross-disorder trait that may be utilised to understand the heterogeneous psychopathology of ASD and ADHD. We aimed to identify emotion recognition subtypes and to examine their relation with quantitative and diagnostic measures of ASD and ADHD to gain further insight into disorder comorbidity and heterogeneity. METHODS: Factor mixture modelling was used on speed and accuracy measures of auditory and visual emotion recognition tasks. These were administered to children and adolescents with ASD (N = 89), comorbid ASD + ADHD (N = 64), their unaffected siblings (N = 122), ADHD (N = 111), their unaffected siblings (N = 69), and controls (N = 220). Identified classes were compared on diagnostic and quantitative symptom measures. RESULTS: A four-class solution was revealed, with the following emotion recognition abilities: (1) average visual, impulsive auditory; (2) average-strong visual and auditory; (3) impulsive/imprecise visual, average auditory; (4) weak visual and auditory. The weakest performing class (4) contained the highest percentage of patients (66.07%) and the lowest percentage controls (10.09%), scoring the highest on ASD/ADHD measures. The best performing class (2) demonstrated the opposite: 48.98% patients, 15.26% controls with relatively low scores on ASD/ADHD measures. CONCLUSIONS: Subgroups of youths can be identified that differ both in quantitative and qualitative aspects of emotion recognition abilities. Weak emotion recognition abilities across sensory domains are linked to an increased risk for ASD as well as ADHD, although emotion recognition impairments alone are neither necessary nor sufficient parts of these disorders.
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26. Wheeler AC, Wylie A, Villagomez A, Bishop E, Raspa M. {{Health care for individuals with fragile X Syndrome: Understanding access and quality}}. {Disability and health journal}. 2018.
BACKGROUND: Previous research suggests that individuals with intellectual or developmental disabilities (IDD) may experience challenges accessing quality health care. OBJECTIVE/HYPOTHESIS: This study explored parent perceptions of access and quality of health care services for children with fragile X syndrome (FXS), the leading hereditary cause of intellectual/developmental disabilities. METHODS: Nearly 600 primary caregivers of at least one child with FXS completed an online survey on access, barriers, and quality of health care for their family member with FXS (N=731). RESULTS: In a convenience sample of well-educated and affluent caregivers, the majority did not report experiencing difficulties with access to services. Caregivers of younger children and those with lower family incomes reported greater challenges with health care access. Nearly 40% of caregivers indicated that their child’s PCP was not as knowledgeable about FXS-related needs as they would prefer, indicating a possible knowledge gap on the part of providers. CONCLUSIONS: These factors represent potential barriers to quality health care for individuals with FXS, with potential lifelong effects ranging from delayed age of diagnosis to difficulty accessing a PCP in adulthood.
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27. Yang H, Li K, Han S, Zhou A, Joe Zhou Z. {{Leveraging the Genetic Basis of Rett Syndrome to Ascertain Pathophysiology}}. {Neurobiology of learning and memory}. 2018.
Mutations in the methyl-CpG binding protein 2 (MECP2) gene cause Rett syndrome (RTT), a progressive X-linked neurological disorder characterized by loss of developmental milestones, intellectual disability and breathing abnormality. Despite being a monogenic disorder, the pathogenic mechanisms by which mutations in MeCP2 impair neuronal function and underlie the RTT symptoms have been challenging to elucidate. The seemingly simple genetic root and the availability of genetic data from RTT patients have led to the generation and characterization of a series of mouse models recapitulating RTT-associated genetic mutations. This review focuses on the studies of RTT mouse models and describe newly obtained pathogenic insights from these studies. We also highlight the potential of studying pathophysiology using genetics-based modeling approaches in rodents and suggest a future direction to tackle the pathophysiology of intellectual disability with known or complex genetic causes.
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28. Yatawatte H, Poellabauer C, Schneider S, Latham S. {{Deviations of acoustic low-level descriptors in speech features of a set of triplets, one with autism}}. {Conference proceedings : Annual International Conference of the IEEE Engineering in Medicine and Biology Society IEEE Engineering in Medicine and Biology Society Annual Conference}. 2018; 2018: 3962-6.
Verbal speech of children diagnosed with ASD is explored in order to identify patterns autism has left in speech, and to model such patterns for implementing automatic diagnostic and screening frameworks. In this study, we identify the deviations of acoustic low-level descriptors (LLDs) in voice of an autistic adolescent from her typically developing triplet siblings. The goal is to identify the atypicality in voice introduced by autism under minimum gender, age, genetic, and language bias and use the gained insights to build a more generalized model by adding more subjects hierarchically. We report the most significant LLDs that describe the deviations of acoustic features due to autism for categories of utterances and feature groups.
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29. Zhang W, Eshghi M. {{Brief Report: Regional Variations in Characteristics of ASD Hospitalizations in the U.S}}. {Journal of autism and developmental disorders}. 2018.
Regional differences in ASD inpatient care remain understudied. We used the Nationwide Inpatient Sample to examine contributory causes and potential determinants associated with regional variations in ASD hospitalizations. We performed univariate and multivariate analyses to identify differences in ASD hospitalizations across four U.S. Census Bureau-defined regions. Our results revealed considerable variations in ASD hospitalizations across U.S. regions. Compared with patients in the Northeast, those in the Midwest, South, and West were less likely to be hospitalized for ASD. Significant differences were observed among regions with regard to the effect of health insurance type, hospital length of stay, hospital bed size, hospital location and teaching status on ASD hospitalizations. The region-specific analysis provides direction for further investigation.
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30. Zhou H, Li CP, Huang Y, Zou XB, Luo XR, Wu LJ, Zhang L, Xu X, Yan WL, Wang Y. {{Reliability and validity of the translated Chinese version of Autism Spectrum Rating Scale (2-5 years)}}. {World journal of pediatrics : WJP}. 2018.
BACKGROUND: Early autism screening is of great value, but there is lack of a screening tool of early age (2-5 years) in China. The Autism Spectrum Rating Scale (ASRS, 2-5 years) is a newly developed autism screening tool in the USA. This study aimed to evaluate the reliability and validity of the translated Chinese version of ASRS (C_ASRS) in Chinese children population before its application in China for early autism screening. METHODS: Caregivers of general children aged 2-5 years from 17 kindergartens and autism spectrum disorder (ASD) cases from five special education schools in five cities were recruited to complete the C_ASRS. 1910 valid questionnaires from kindergarteners and 192 from ASD cases were included for analyses. RESULTS: The item reliability (Cronbach’s alpha) was more than 0.80 in the screening scale and DSM-5 scale, and 0.51-0.81 in the treatment scale. ASD cases scored higher on total score and most subscales compared to the kindergarteners (Cohen’s d ranging from 1.34 to 3.37). C_ASRS showed good discriminatory validity with an area under the receiver operating characteristic curve of 0.850 (95% confidence interval: 0.819-0.881). The cutoff >/= 60 achieved sensitivity of 65.63% and specificity of 85.63% in discriminating autism children from the general population. CONCLUSION: The results indicate that C_ASRS (2-5 years) could be used as an early level-2 screening tool for autism screening in China and should be further revised for level-1 screening.
