1. Ashley K, Steinfeld MB, Young GS, Ozonoff S. {{Onset, Trajectory, and Pattern of Feeding Difficulties in Toddlers Later Diagnosed with Autism}}. {J Dev Behav Pediatr};2019 (Dec 3)
OBJECTIVE: To examine the emergence and trajectory of feeding difficulties in young children who are later diagnosed with autism spectrum disorder (ASD). METHODS: The Behavioral Pediatrics Feeding Assessment Scale (BPFAS) was administered to a sample of 93 toddlers with an older sibling with ASD-the high-risk group-and 62 toddlers with no known familial ASD-the low-risk group-as part of a larger infant sibling study. The BPFAS was completed by parents at 15, 18, 24, and 36 months of age. At 36 months, participants underwent a diagnostic assessment and were classified into 1 of the following 4 outcome groups: ASD, nontypical development, high-risk typically developing, and low-risk typically developing. The BPFAS was scored for total frequency of feeding difficulties and autism-specific factor scores previously described in the literature. RESULTS: The frequency of feeding difficulties increased significantly more rapidly in the ASD group between 15 and 36 months of age, and by 36 months, they exhibited a significantly higher total frequency score than all other groups. Analysis of the factor scores revealed a similar pattern for the food acceptance and mealtime behavior domains but no significant differences in the medical/oral motor domain. CONCLUSION: Feeding difficulties develop significantly more rapidly in children with ASD, with longitudinal monitoring revealing the steeper trajectory earlier than can be detected with cross-sectional analysis. Children with ASD are at risk of health and social consequences of poor feeding behavior that may potentially be minimized if addressed early and appropriately.
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2. Bickford CD, Oberlander TF, Lanphear NE, Weikum WM, Janssen PA, Ouellette-Kuntz H, Hanley GE. {{Identification of Pediatric Autism Spectrum Disorder Cases Using Health Administrative Data}}. {Autism Res};2019 (Dec 4)
Administrative data are frequently used to identify Autism Spectrum Disorder (ASD) cases in epidemiological studies. However, validation studies on this mode of case ascertainment have lacked access to high-quality clinical diagnostic data and have not followed published reporting guidelines. We report on the diagnostic accuracy of using readily available health administrative data for pediatric ASD case ascertainment. The validation cohort included almost all the ASD-positive children born in British Columbia, Canada from April 1, 2000 to December 31, 2009 and consisted of 8,670 children in total. 4,079 ASD-positive and 2,787 ASD-negative children were identified using Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R) assessments done through the British Columbia Autism Assessment Network (BCAAN). An additional 1,804 ADOS/ADI-R assessed ASD-positive children were identified using Ministry of Education records. This prospectively collected clinical data (the diagnostic gold standard) was then linked to each child’s physician billing and hospital discharge data. The diagnostic accuracy of 11 algorithms that used the administrative data to assign ASD case status was assessed. For all algorithms, high positive predictive values (PPVs) were observed alongside low values for other measures of diagnostic accuracy illustrating that PPVs alone are not an adequate measure of diagnostic accuracy. We show that British Columbia’s health administrative data cannot reliably be used to discriminate between children with ASD and children with other developmental disorders. Utilizing these data may result in misclassification bias. Methodologically sound, region-specific validation studies are needed to support the use of administrative data for ASD case ascertainment. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Health administrative data are frequently used to identify Autism Spectrum Disorder (ASD) cases for research purposes. However, previous validation studies on this sort of case identification have lacked access to high-quality clinical diagnostic data and have not followed published reporting guidelines. We show that British Columbia’s health administrative data cannot reliably be used to discriminate between children with ASD and children with other developmental disorders.
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3. Buddell T, Friedman V, Drozd CJ, Quinn CC. {{An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior}}. {PLoS Genet};2019 (Dec);15(12):e1008488.
Common and rare variants of the CACNA1C voltage-gated calcium channel gene have been associated with autism and other neurodevelopmental disorders including schizophrenia, bipolar disorder and ADHD. However, little is known about how CACNA1C variants affect cellular processes to alter neurodevelopment. The Timothy syndrome mutation is a rare de novo gain-of-function variant in CACNA1C that causes autism with high penetrance, providing a powerful avenue into investigating the role of CACNA1C variants in neurodevelopmental disorders. Here, we use egl-19, the C. elegans homolog of CACNA1C, to investigate the role of voltage-gated calcium channels in autism. We show that an egl-19(gof) mutation that is equivalent to the Timothy syndrome mutation can alter axon targeting and affect behavior in C. elegans. We find that wildtype egl-19 negatively regulates axon termination. The egl-19(gof) mutation represses axon termination to cause axon targeting defects that lead to the misplacement of electrical synapses and alterations in habituation to light touch. Moreover, genetic interactions indicate that the egl-19(gof) mutation functions with genes that promote selective autophagy to cause defects in axon termination and behavior. These results reveal a novel genetic mechanism whereby a de novo mutation in CACNA1C can drive alterations in circuit formation and behavior.
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4. Clark BC, Kopp A, Morey W, Djukic A. {{Serial follow-up of corrected QT interval in Rett syndrome}}. {Dev Med Child Neurol};2019 (Dec 4)
AIM: To identify factors associated with baseline prolonged corrected QT (QTc) and higher risk of QTc prolongation during follow-up in patients with Rett syndrome (RTT). METHOD: A retrospective review of patients receiving an electrocardiogram (ECG) between June 2012 and June 2018 was performed. Age, methyl-CpG binding protein 2 gene (MECP2) mutation, RTT Severity Scale (RSSS) score, breathing abnormalities, seizure frequency, medications, and ECG parameters were collected. Prolonged QTc was defined as greater than or equal to 460ms. Comparisons at baseline and during follow-up were made. RESULTS: In total, 129 unique patients (all female) had 349 ECGs. At baseline, 12 (9.3%) had a prolonged QTc (median 474ms, interquartile range 470-486ms) and were more likely to have moderate/severe breathing abnormalities (66.7% vs 24.8%; p=0.005) and take selective serotonin reuptake inhibitors (SSRIs) (41.7% vs 15.4%; p=0.04). There was no difference in age, RSSS score, seizures, or mutation. Twenty-six developed prolonged QTc during a median follow-up of 1 year 7 months (interquartile range 0-3y 6mo). QTc prolongation was associated with p.(Thr158Met) mutation versus the remaining six common mutations (hazard ratio 4.1, 95% confidence interval 1.4-12.0; p=0.01) but not with age, RSSS score, seizures, breathing abnormalities, or SSRIs. INTERPRETATION: Breathing abnormalities and SSRIs were associated with baseline QTc prolongation and those with p.(Thr158Met) mutation were more likely to develop prolonged QTc over time. Identification of patients with prolonged QTc warrants increased clinical monitoring.
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5. D’Abate L, Walker S, Yuen RKC, Tammimies K, Buchanan JA, Davies RW, Thiruvahindrapuram B, Wei J, Brian J, Bryson SE, Dobkins K, Howe J, Landa R, Leef J, Messinger D, Ozonoff S, Smith IM, Stone WL, Warren ZE, Young G, Zwaigenbaum L, Scherer SW. {{Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders}}. {Nat Commun};2019 (Dec 5);10(1):5519.
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically.
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6. Dobrovolsky AP, Gedzun VR, Bogin VI, Ma D, Ichim TE, Sukhanova IA, Malyshev AV, Dubynin VA. {{Beneficial effects of xenon inhalation on behavioral changes in a valproic acid-induced model of autism in rats}}. {J Transl Med};2019 (Dec 3);17(1):400.
BACKGROUND: Xenon (Xe) is a noble gas that has been used for the last several decades as an anesthetic during surgery. Its antagonistic effect on glutamate subtype of NMDA (N-methyl-D-aspartate) receptors resulted in evaluation of this gas for treatment of CNS pathologies, including psychoemotional disorders. The aim of this study was to assess the behavioral effects of acute inhalation of subanesthetic concentrations of Xe and to study the outcomes of Xe exposure in valproic acid (VPA)-induced rodent model of autism. METHODS: We have conducted two series of experiments with a battery of behavioral tests aimed to evaluate locomotion, anxiety- and depression-like behavior, and social behavior in healthy, VPA-treated and Xe-exposed young rats. RESULTS: We have shown that in healthy animals Xe exposure resulted in acute and delayed decrease of exploratory motivation, partial decrease in risk-taking and depressive-like behavior as well as improved sensorimotor integration during the negative geotaxis test. Acute inhalations of Xe in VPA-exposed animals led to improvement in social behavior, decrease in exploratory motivation, and normalization of behavior in forced-swim test. CONCLUSION: Behavioral modulatory effects of Xe are probably related to its generalized action on excitatory/inhibitory balance within the CNS. Our data suggest that subanesthetic short-term exposures to Xe have beneficial effect on several behavioral modalities and deserves further investigation.
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7. Douglas PS. {{Pre-emptive Intervention for Autism Spectrum Disorder: Theoretical Foundations and Clinical Translation}}. {Front Integr Neurosci};2019;13:66.
Autism spectrum disorders (ASD) are an emergent public health problem, placing significant burden upon the individual, family and health system. ASD are polygenetic spectrum disorders of neural connectome development, in which one or more feedback loops amplify small genetic, structural, or functional variations in the very early development of motor and sensory-motor pathways. These perturbations trigger a ‘butterfly effect’ of unpredictable cascades of structural and functional imbalances in the global neuronal workspace, resulting in atypical behaviors, social communication, and cognition long-term. The first 100 days post-term are critically neuroplastic and comprise an injury-sensitive developmental window, characterized by a neural biomarker, the persistence of the cortical subplate, and a behavioral biomarker, the crying diathesis. By the time potential diagnostic signs are identified, from 6 months of age, ASD neuropathy is already entrenched. The International Society for Autism Research Special Interest Group has called for pre-emptive intervention, based upon rigorous theoretical frames, and real world translation and evaluation. This paper responds to that call. It synthesizes heterogenous evidence concerning ASD etiologies from both psychosocial and biological research literatures with complexity science and evolutionary biology, to propose a theoretical framework for pre-emptive intervention. This paper hypothesizes that environmental factors resulting from a mismatch between environment of evolutionary adaptedness and culture initiate or perpetuate early motor and sensory-motor lesions, triggering a butterfly effect of multi-directional cascades of atypical developmental in the complex adaptive system of the parent and ASD-susceptible infant. Chronic sympathetic nervous system/hypothalamic-pituitary-adrenal axis hyperarousal and disrupted parent-infant biobehavioral synchrony are the key biologic and behavioral mechanisms perpetuating these atypical developmental cascades. A clinical translation of this evidence is proposed, for application antenatally and in the first 6 months of life, as pre-emptive intervention for ASD.
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8. Durrleman S, Burnel M, De Villiers JG, Thommen E, Yan R, Delage H. {{The Impact of Grammar on Mentalizing: A Training Study Including Children With Autism Spectrum Disorder and Developmental Language Disorder}}. {Front Psychol};2019;10:2478.
Training on complements in English, German, and Mandarin has been reported to trigger improvements on both complements and Theory of Mind (ToM), with typically developing (TD) pre-schoolers on the verge of developing these skills (Hale and Tager-Flusberg, 2003; Lohmann and Tomasello, 2003; Shuliang et al., 2014). In the current study, we build on the idea that increasing mastery of complementation holds the promise of enhancing ToM, and seek (i) to replicate the positive effects observed in previous work for this effect in French-speaking TD children, and (ii) to pilot extending this to clinical children, more specifically those with Autism Spectrum Disorder (ASD) and Developmental Language Disorder (DLD), through exploring whether improvement in the latter, clinical groups follows that of the TD group. Sixty children with ToM difficulties, 16 with ASD (aged 5;6-11;8), 20 with DLD (aged 4;8-9;0) and 24 typically developing children aged (2;9-5;3 years), participated in a 4-week training program. Half received training targeting sentential complements and half received a control training targeting lexical skills. Complementation training, but not lexical training, led to a significant direct increase in complements, and also had the indirect effect of significantly boosting belief reasoning. TD and clinical groups followed the same patterns of performance. These results confirm previous findings in other languages for TD, and further suggest promising new directions for therapeutic programs addressing ToM delays in populations of different aetiologies, namely the incorporation of a motivating training on complementation.
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9. English MCW, Maybery MT, Visser TAW. {{Autistic-traits, not anxiety, modulate implicit emotional guidance of attention in neurotypical adults}}. {Sci Rep};2019 (Dec 5);9(1):18376.
Although autistic and anxious traits are positively correlated, high levels of autistic traits are associated with poorer emotional guidance of attention (EGA) whilst high levels of anxious traits are associated with greater EGA. In order to better understand how these two trait dimensions influence EGA, we simultaneously examined the effects of anxiety and autistic traits in neurotypical adults on target identification in an attentional blink task. Analyses indicated that implicit EGA is attenuated in individuals with higher levels of autistic traits, but largely unaffected by variation in anxious traits. Our results suggest that anxiety plays a comparatively limited role in modulating implicit EGA and reinforces the importance of disentangling correlated individual differences when exploring the effects of personality, including emotional predisposition, on attention.
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10. Ganakammal SR, Alexov E. {{Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants}}. {PeerJ};2019;7:e8106.
Background: Genomics diagnostic tests are done for a wide spectrum of complex genetics conditions such as autism and cancer. The growth of technology has not only aided in successfully decoding the genetic variants that causes or trigger these disorders. However, interpretation of these variants is not a trivial task even at a level of distinguish pathogenic vs benign variants. Methods: We used the clinically significant variants from ClinVar database to evaluate the performance of 14 most popular in-silico predictors using supervised learning methods. We implemented a feature selection and random forest classification algorithm to identify the best combination of predictors to evaluate the pathogenicity of a variant. Finally, we have also utilized this combination of predictors to reclassify the variants of unknown significance in MeCP2 gene that are associated with the Rett syndrome. Results: The results from analysis shows an optimized selection of prediction algorithm and developed a combinatory predictor method. Our combinatory approach of using both best performing independent and ensemble predictors reduces any algorithm biases in variant characterization. The reclassification of variants (such as VUS) in MECP2 gene associated with RETT syndrome suggest that the combinatory in-silico predictor approach had a higher success rate in categorizing their pathogenicity.
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11. Giserman-Kiss I, Gorenstein M, Feldman E, Rowe M, Grosman H, Weissman J, Rouhandeh A, Wilkinson E, Meyering K, Durkin A, Isenstein E, Kolevzon A, Buxbaum JD, Siper PM. {{The Immersive Theater Experience for Individuals with Autism Spectrum Disorder}}. {J Autism Dev Disord};2019 (Dec 3)
Despite growing public awareness of ASD, many caregivers of children with ASD struggle to find opportunities for participation in community activities with appropriate accommodations. The current study evaluated the experiences of individuals with ASD who attended immersive theater performances specifically designed for individuals with ASD. Parents and teachers of 256 children and adolescents completed questionnaires regarding their pre-show expectations and post-show satisfaction with the performance. Analyses revealed that, on average, parents’ and teachers’ levels of satisfaction significantly outweighed their pre-show expectations. Based on researcher observations, audience feedback, and past research, a list of best practices for successful theater programming for individuals with ASD was compiled with the goal of widespread dissemination to increase accessibility of theater performances for neurodiverse audiences.
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12. Goris J, Brass M, Cambier C, Delplanque J, Wiersema JR, Braem S. {{The relation between preference for predictability and autistic traits}}. {Autism Res};2019 (Dec 4)
A common idea about individuals with autism spectrum disorder (ASD) is that they have an above-average preference for predictability and sameness. However, surprisingly little research has gone toward this core symptom, and some studies suggest the preference for predictability in ASD might be less general than commonly assumed. Here, we investigated this important symptom of ASD using three different paradigms, which allowed us to measure preference for predictability under well-controlled experimental conditions. Specifically, we used a dimensional approach by investigating correlations between autistic traits (as measured with the Autism-Spectrum Quotient and Social Responsiveness Scale in a neurotypical population) and the scores on three different tasks. The « music preference » task assessed preferences for tone sequences that varied in predictability. The « perceptual fluency » task required participants to evaluate stimuli that were preceded by a similar versus dissimilar subliminally presented prime. The « gambling » task presented four decks of cards that had equal outcome probabilities but varied in predictability. We observed positive correlations between autistic traits and a preference for predictability in both the music preference and perceptual fluency task. We did not find our hypothesized correlation with gambling behavior but did observe a post hoc correlation showing that participants with more autistic traits were faster to choose the predictable deck. Together, these findings show that a relation between autistic traits and preference for predictability can be observed in a standardized lab environment, and should be considered an important first step toward a better, more mechanistic understanding of insistence on sameness in ASD. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: A core symptom of autism spectrum disorder (ASD) is a strong preference for predictability, but little research has gone toward it. We show that neurotypical adults with more autistic traits have stronger preferences for predictable tunes, evaluate images that can be predicted as more beautiful, and are faster in choosing a gambling option resulting in predictable reward. These results offer the first important evidence that insistence on sameness in ASD can be studied in controlled lab settings.
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13. Grisoni L, Moseley RL, Motlagh S, Kandia D, Sener N, Pulvermuller F, Roepke S, Mohr B. {{Prediction and Mismatch Negativity Responses Reflect Impairments in Action Semantic Processing in Adults With Autism Spectrum Disorders}}. {Front Hum Neurosci};2019;13:395.
The neurophysiological mechanisms underlying motor and language difficulties in autism spectrum disorders (ASD) are still largely unclear. The present work investigates biological indicators of sound processing, (action-) semantic understanding and predictive coding and their correlation with clinical symptoms of ASD. Twenty-two adults with high-functioning ASD and 25 typically developed (TD) participants engaged in an auditory, passive listening, Mismatch Negativity (MMN) task while high-density electroencephalography (EEG) was recorded. Action and non-action words were presented in the context of sounds, which were either semantically congruent with regard to the body part they relate to or semantically incongruent or unrelated. The anticipatory activity before sound onset, the Prediction Potential (PP), was significantly reduced in the ASD group specifically for action, but not for non-action sounds. The early-MMN-like responses to words (latency: 120 ms) were differentially modulated across groups: controls showed larger amplitudes for words in action-sound compared to non-action contexts, whereas ASD participants demonstrated enlarged early-MMN-like responses only in a pure tone context, with no other modulation dependent on action sound context. Late-MMN-like responses around 560 ms post-stimulus onset revealed body-part-congruent action-semantic priming for words in control participants, but not in the ASD group. Importantly, neurophysiological indices of semantic priming in ASD participants correlated with the extent of autistic traits as revealed by the Autism Spectrum Quotient (AQ). The data suggest that high-functioning adults with ASD show a specific deficit in semantic processing and predictive coding of sounds and words related to action, which is absent for neutral, non-action, sounds.
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14. Harrop C, Jones DR, Sasson NJ, Zheng S, Nowell SW, Parish-Morris J. {{Social and Object Attention Is Influenced by Biological Sex and Toy Gender-Congruence in Children With and Without Autism}}. {Autism Res};2019 (Dec 4)
Emerging research suggests social attention in autism spectrum disorder (ASD) girls is enhanced relative to ASD boys but may also be affected by the type of social and nonsocial content presented. This study examined how biological sex and gender norms interact to influence visual attention in 79 school-aged children observing scenes that included gender-associated toys and actors of both sexes. Attention to social (faces) and object activity (hands with toys) stimuli was measured. Previously described distinctions between social attention in ASD boys and girls were replicated, with ASD girls looking more at faces than ASD boys. Irrespective of diagnosis, males and females attended more to actors that shared their same sex, and attended more to toys with gender-associations that were consistent with their own sex, suggesting that social and object salience increases for children under sex-consistent conditions. Importantly, ASD and typically developing (TD) children increased their gaze to faces when male actors were shown playing with female-associated toys, suggesting that both groups of children are sensitive to societal messages about the acceptability of males playing with female-associated toys. Our findings provide further evidence of heightened attention to faces in ASD girls relative to ASD boys, and indicate that social attention in ASD and TD children is influenced by who (male or female actor) and what (male- or female-associated toy) is being observed. Collectively, these results present a nuanced profile of attention in ASD that adds to a growing body of research indicating subtle phenotypic differences in ASD girls that may impact identification, assessment, and intervention. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Sex differences observed in typical development may also be present in individuals with autism. In this study, we developed an eye-tracking paradigm featuring videos of boys and girls playing with toys that varied in their gender associations. Attention to faces differed between autistic and non-autistic children but was also influenced by the sex of the actor and gender-association of toys. Autistic females demonstrated subtle attention differences that distinguished them from autistic males and may influence referral, diagnosis, and intervention.
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15. Hinz L, Torrella Barrufet J, Heine VM. {{KCC2 expression levels are reduced in post mortem brain tissue of Rett syndrome patients}}. {Acta Neuropathol Commun};2019 (Dec 3);7(1):196.
Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 (MECP2) gene. Deficient K(+)-Cl(-)co-transporter 2 (KCC2) expression is suggested to play a key role in the neurodevelopmental delay in RTT patients’ neuronal networks. KCC2 is a major player in neuronal maturation by supporting the GABAergic switch, through the regulation of neuronal chlorine homeostasis. Previous studies suggest that MeCP2 mutations lead to changed KCC2 expression levels, thereby causing a disturbance in excitation/inhibition (E/I) balance. To investigate this, we performed protein and RNA expression analysis on post mortem brain tissue from RTT patients and healthy controls. We showed that KCC2 expression, in particular the KCC2a isoform, is relatively decreased in RTT patients. The expression of Na(+)-K(+)-Cl(-) co-transporter 1 (NKCC1), responsible for the inward transport of chlorine, is not affected, leading to a reduced KCC2/NKCC1 ratio in RTT brains. Our report confirms KCC2 expression alterations in RTT patients in human brain tissue, which is in line with other studies, suggesting affected E/I balance could underlie neurodevelopmental defects in RTT patients.
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16. Larsen K, Aasland A, Schjolberg S, Hansen UI, Diseth TH. {{Piloting the Use of a Short Observation List for ASD-Symptoms in Day-Care: Challenges and Further Possibilities}}. {J Autism Dev Disord};2019 (Dec 3)
Early symptoms of autism spectrum disorder (ASD) develop through the second year of life, making a stable ASD diagnosis possible around 24 months of age. However, in general, children with ASD are diagnosed later. In this study we explored the use of a short observation list to detect symptoms associated with ASD in children 12-24 months of age attending typical day-care centers. The results indicate that a short observation list used by day-care teachers does not reveal sufficient properties to be independently used in young children in day-care centers. Further studies should explore multiple and repeated measures for early detection of symptoms associated with ASD in typical day-care centers.
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17. Lee Masson H, Pillet I, Amelynck S, Van De Plas S, Hendriks M, Op de Beeck H, Boets B. {{Intact neural representations of affective meaning of touch but lack of embodied resonance in autism: a multi-voxel pattern analysis study}}. {Mol Autism};2019;10:39.
Background: Humans can easily grasp the affective meaning of touch when observing social interactions. Several neural systems support this ability, including the theory of mind (ToM) network and the somatosensory system linked to embodied resonance, but it is unclear how these systems are affected in autism spectrum disorder (ASD). Individuals with ASD exhibit impairments in the use of nonverbal communication such as social and reciprocal touch. Despite the importance of touch in social communication and the reported touch aversion in ASD, surprisingly little is known about the neural systems underlying impairments in touch communication in ASD. Methods: The present study applies a dynamic and socially meaningful stimulus set combined with functional magnetic resonance imaging (fMRI) to pinpoint atypicalities in the neural circuitry underlying socio-affective touch observation in adults with ASD. Twenty-one adults with ASD and 21 matched neurotypical adults evaluated the valence and arousal of 75 video fragments displaying touch interactions. Subsequently, they underwent fMRI while watching the same videos. Using multi-voxel pattern analysis (MVPA) and multiple regression analysis, we examined which brain regions represent the socio-affective meaning of observed touch. To further understand the brain-behavior relationship, we correlated the strength of affective representations in the somatosensory cortex with individuals’ attitude towards social touch in general and with a quantitative index of autism traits as measured by the Social Responsiveness Scale. Results: Results revealed that the affective meaning of touch was well represented in the temporoparietal junction, a core mentalizing area, in both groups. Conversely, only the neurotypical group represented affective touch in the somatosensory cortex, a region involved in self-experienced touch. Lastly, irrespective of the group, individuals with a more positive attitude towards receiving, witnessing, and providing social touch and with a higher score on social responsivity showed more differentiated representations of the affective meaning of touch in these somatosensory areas. Conclusions: Together, our findings imply that male adults with ASD show intact cognitive understanding (i.e., « knowing ») of observed socio-affective touch interactions, but lack of spontaneous embodied resonance (i.e., « feeling »).
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18. Loi E, Moi L, Blois S, Bacchelli E, Vega Benedetti AF, Cameli C, Fadda R, Maestrini E, Carta M, Doneddu G, Zavattari P. {{ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario}}. {J Cell Mol Med};2019 (Dec 4)
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by high heritability. It is known that genetic factors contribute to ASD pathogenesis. In particular, copy number variants (CNVs) are involved in ASD susceptibility and can affect gene expression regulation. 2p11.2 microdeletions encompassing ELMOD3, CAPG and SH2D6 genes have been described in four unrelated ASD families. The present study revealed that this microdeletion is responsible for the production of a chimeric transcript generated from the fusion between ELMOD3 and SH2D6. The identified transcript showed significantly higher expression levels in subjects carrying the deletion compared to control subjects, suggesting that it is not subjected to nonsense-mediated decay and might encode for a chimeric protein. In conclusion, this study suggests the possible involvement of this gene fusion, together with the other previously identified variants, in ASD.
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19. Loytomaki J, Ohtonen P, Laakso ML, Huttunen K. {{The role of linguistic and cognitive factors in emotion recognition difficulties in children with ASD, ADHD or DLD}}. {Int J Lang Commun Disord};2019 (Dec 3)
BACKGROUND: Many children with neurodevelopmental disorders such as autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) or developmental language disorder (DLD) have difficulty recognizing and understanding emotions. However, the reasons for these difficulties are currently not well understood. AIMS: To compare the emotion recognition skills of children with neurodevelopmental disorders as well as those children’s skills with the skills of their typically developing (TD) age peers. Also, to identify the role of underlying factors in predicting emotion recognition skills. METHODS & PROCEDURES: The 6-10-year-old children (n = 50) who participated in the study had either ASD, ADHD or DLD and difficulties recognizing emotions from face and/or in voice. TD age peers (n = 106) served as controls. Children’s skills were tested using six forced-choice tasks with emotional nonsense words, meaningful emotional sentences, the FEFA 2 test, photographs, video clips and a task in which facial expressions and tones of voice had to be matched. Expressive vocabulary, rapid serial naming, auditory and visual working memory and Theory of Mind skills were explored as possible explanatory factors of the emotion recognition difficulties of the diagnosed children. OUTCOMES & RESULTS: Children with ASD, ADHD or DLD did not significantly differ from each other in their linguistic or cognitive skills. Moreover, there were only minor differences between children with these diagnoses in recognizing facial expressions and emotional tone of voice and matching the two. The only significant difference was that children with ADHD recognized facial expressions in photographs better than children with DLD. The participants with diagnoses scored significantly lower than the controls in all but one emotion recognition tasks presented. According to the linear regression analysis, first-order Theory of Mind skills predicted the delay relative to typical development in the recognition of facial expressions in the FEFA 2 test, and expressive vocabulary and working memory skills together predicted the delay in the recognition of emotions in the matching task. CONCLUSIONS & IMPLICATIONS: Children with ASD, ADHD or DLD showed very similar emotion recognition skills and were also found to be significantly delayed in their development of these skills. Some predictive factors related to linguistic and cognitive skills were found for these difficulties. Information about impaired emotion recognition and underlying linguistic and cognitive skills helps to select intervention procedures. Without this information, therapy might unnecessarily focus on only symptoms.
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20. Lushin V, Mandell D, Beidas R, Marcus S, Nuske H, Kaploun V, Seidman M, Gaston D, Locke J. {{Trajectories of Evidence Based Treatment for School Children with Autism: What’s the Right Level for the Implementation?}}. {J Autism Dev Disord};2019 (Dec 3)
Evidence-based practices (EBP) for children with autism are under-used in special-education schools. No research compared child-level versus teacher-level influences on EBP use, which could guide implementation strategies. We derived longitudinal profiles of EBP receipt by children (N = 234) in 69 autism-support classrooms, over an academic year. We compared overall impacts of child-level and teacher-level factors on profile membership. Most children received little EBP throughout the year; however substantial subgroups received increasing, and decreasing, doses of EBP. Child-level and teacher-level factors contributed about equally to profile membership. Children’s autism symptoms and verbal ability, teachers’ EBP skills, training/experience, classroom support, class size, and implementation leadership climate predicted profile membership. Early identification of treatment profiles could facilitate targeted implementation strategies increasing EBP use.
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21. Marquis SM, McGrail K, Hayes MV. {{Mental health outcomes among parents of a child who has a developmental disability: Comparing different types of developmental disability}}. {Disabil Health J};2019 (Nov 21):100874.
BACKGROUND: There is very little information on the effects of different types of developmental disability on the mental health of parents of children who have a DD. OBJECTIVE: This paper compared the mental health of parents of children with Autism Spectrum Disorder (ASD), Down syndrome, Fetal Alcohol Syndrome (FAS) and other types of DD. METHODS: A cross-sectional design was used to examine population-level administrative health data for mental health outcomes in cohorts of fathers and mothers of children with four different types of a DD. As well as type of DD, additional variables were examined, these included: sex of the parent, age of the parent at birth of the child with the DD, income, sex of the child with the DD, number of children in the family and place of residence. RESULTS: For both fathers and mothers odds of a diagnosis of depression or another mental health problem were associated with type of DD. Parents of children with FAS experienced the greatest odds of a depression or other mental health diagnosis. Odds of a diagnosis for fathers were associated with low income. Odds of a diagnosis for mothers were associated with the sex of the child with the DD. CONCLUSIONS: These findings are important for understanding families which include a child with a DD, as a guide for future research, and for developing effective programs and services for these parents.
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22. McLennan JD. {{Deprescribing in a Youth with an Intellectual Disability, Autism, Behavioural Problems, and Medication-Related Obesity: A Case Study}}. {J Can Acad Child Adolesc Psychiatry};2019 (Nov);28(3):141-146.
Vlad, not his real name, a 15 year old boy with an autism spectrum disorder and intellectual disability, was referred for psychiatric consultation due to aggression and other behavioural problems. He presented for initial psychiatric consultation on five psychotropic medications with associated severe obesity. A systematic deprescribing and cross-tapering plan was implemented, removing all five psychotropic medications (which included olanzapine and quetiapine) and introducing ziprasidone. These changes were associated with a 44.8kg weight loss with no behavioral deterioration and overall lower rates of aggression. Vlad’s case may typify important deficiencies in the service system which create a context that allows for aggressive psychotropic polypharmacy without apparent concomitant increase in sophistication of behavioral management design and support, while also tolerating substantial treatment adverse effects (e.g., medication induced severe obesity) within a member of a vulnerable population (e.g., a youth with developmental disability in care). Suggestions to address some of these contextual factors are outlined.
23. Ochi K, Ono N, Owada K, Kojima M, Kuroda M, Sagayama S, Yamasue H. {{Quantification of speech and synchrony in the conversation of adults with autism spectrum disorder}}. {PLoS One};2019;14(12):e0225377.
Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder characterized by impairments in social reciprocity and communication together with restricted interest and stereotyped behaviors. The Autism Diagnostic Observation Schedule (ADOS) is considered a ‘gold standard’ instrument for diagnosis of ASD and mainly depends on subjective assessments made by trained clinicians. To develop a quantitative and objective surrogate marker for ASD symptoms, we investigated speech features including F0, speech rate, speaking time, and turn-taking gaps, extracted from footage recorded during a semi-structured socially interactive situation from ADOS. We calculated not only the statistic values in a whole session of the ADOS activity but also conducted a block analysis, computing the statistical values of the prosodic features in each 8s sliding window. The block analysis identified whether participants changed volume or pitch according to the flow of the conversation. We also measured the synchrony between the participant and the ADOS administrator. Participants with high-functioning ASD showed significantly longer turn-taking gaps and a greater proportion of pause time, less variability and less synchronous changes in blockwise mean of intensity compared with those with typical development (TD) (p<0.05 corrected). In addition, the ASD group had significantly wider distribution than the TD group in the within-participant variability of blockwise mean of log F0 (p<0.05 corrected). The clinical diagnosis could be discriminated using the speech features with 89% accuracy. The features of turn-taking and pausing were significantly correlated with deficits of ASD in reciprocity (p<0.05 corrected). Additionally, regression analysis provided 1.35 of mean absolute error in the prediction of deficits in reciprocity, to which the synchrony of intensity especially contributed. The findings suggest that considering variance of speech features, interaction and synchrony with conversation partner are critical to characterize atypical features in the conversation of people with ASD. Lien vers le texte intégral (Open Access ou abonnement)
24. Pellicano E, Cribb S, Kenny L. {{Patterns of Continuity and Change in the Psychosocial Outcomes of Young Autistic People: a Mixed-Methods Study}}. {J Abnorm Child Psychol};2019 (Dec 3)
Long-term longitudinal studies have consistently demonstrated that the outcomes of autistic individuals are highly variable. Yet, these studies have typically focused on aspects of functioning deemed to be critical by non-autistic researchers, rather than autistic people themselves. Here, we uniquely examined the long-term psychosocial outcomes of a group of young autistic people (n = 27; M age = 17 years; 10 months; 2 female) followed from childhood using a combination of approaches, including (1) the standard, normative approach, which examined changes in diagnostic outcomes, autistic features and adaptive functioning over a 9-year period and (2) a qualitative approach, which involved semi-structured interviews to understand young people’s own subjective experiences of their current functioning. On average, there was no significant change in young people’s diagnostic outcomes and autistic features over the 9-year period, although there was much variability at the individual level. There was far less variability, however, in young people’s everyday functioning, with marked declines over the same period. While these often-substantial everyday challenges aligned well with young people’s subjective reports, there was no straightforward one-to-one mapping between self-reported experiences of being autistic and standard measures of severity. These findings call for concerted efforts to understand autistic outcomes through the mixing of quantitative and qualitative reports and for sustained and targeted interventions during adolescence in those areas that matter most to young people themselves.
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25. Pfeiffer B, Stein Duker L, Murphy A, Shui C. {{Effectiveness of Noise-Attenuating Headphones on Physiological Responses for Children With Autism Spectrum Disorders}}. {Front Integr Neurosci};2019;13:65.
Objective: The purpose of this study was to evaluate the proof of concept of an intervention to decrease sympathetic activation as measured by skin conductivity (electrodermal activity, EDA) in children with an autism spectrum disorder (ASD) and auditory hypersensitivity (hyperacusis). In addition, researchers examined if the intervention provided protection against the negative effects of decibel level of environmental noises on electrodermal measures between interventions. The feasibility of implementation and outcome measures within natural environments were evaluated. Method: A single-subject multi-treatment design was used with six children, aged 8-16 years, with a form of Autism (i.e., Autism, PDD-NOS). Participants used in-ear (IE) and over-ear (OE) headphones for two randomly sequenced treatment phases. Each child completed four phases: (1) a week of baseline data collection; (2) a week of an intervention; (3) a week of no intervention; and (4) a week of the other intervention. Empatica E4 wristbands collected EDA data. Data was collected on 16-20 occasions per participant, with five measurements per phase. Results: Separated tests for paired study phases suggested that regardless of intervention type, noise attenuating headphones led to a significance difference in both skin conductance levels (SCL) and frequency of non-specific conductance responses (NS-SCRs) between the baseline measurement and subsequent phases. Overall, SCL and NS-SCR frequency significantly decreased between baseline and the first intervention phase. A protective effect of the intervention was tested by collapsing intervention results into three phases. Slope correlation suggested constant SCL and NS-SCR frequency after initial use of the headphones regardless of the increase in environmental noises. A subsequent analysis of the quality of EDA data identified that later phases of data collection were associated with better data quality. Conclusion: Many children with ASD have hypersensitivities to sound resulting in high levels of sympathetic nervous system reactivity, which is associated with problematic behaviors and distress. The findings of this study suggest that the use of noise attenuating headphones for individuals with ASD and hyperacusis may reduce sympathetic activation. Additionally, results suggest that the use of wearable sensors to collect physiological data in natural environments is feasible with established protocols and training procedures.
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26. Price S. {{Addressing Autism: Giving Physicians Tools}}. {Tex Med};2019 (Dec 1);115(12):42-44.
Autism spectrum disorder is a fast-growing, serious developmental disability in the U.S., affecting an estimated one out of 59 children nationally, according to the U.S. Centers for Disease Control and Prevention. It is about four times more common in boys than girls. In recognition of its growing importance, TMA’s House of Delegates in 2019 approved a resolution encouraging physicians to expand and promote resources for families of people with autism.
27. Rizzolo D, Smith NE, McCall TC. {{Towards Earlier Identification: Physicians Assistants’ Perceptions of their Ability to Identify, Diagnose, and Refer Patients with Autism Spectrum Disorder}}. {J Allied Health};2019 (Winter);48(4):287-292.
Early detection is imperative for children with autism spectrum disorder (ASD) to achieve optimal functioning. Knowledge of early signs of ASD, as well as open communication, can mitigate delayed diagnosis. This study explored physician assistants’ (PA) abilities to diagnosis ASD as well as gathered information on their training. A majority of respondents who see pediatric patients received training on developmental milestones, but far fewer received training to identify red flags for ASD. Few PAs are talking with every patient’s caregivers about a variety of behavioral health conditions, not just ASD. Overall, PAs rated their current skills working with patients with ASD lower than their desired level, suggesting a desire to become more adept at meeting their patients’ needs.
28. Salimi M, Mahdavi A, Yeghaneh SS, Abedin M, Hajhosseini M. {{The Effectiveness of Group Based Acceptance and Commitment Therapy (ACT) on Emotion Cognitive Regulation Strategies in Mothers of Children with Autism Spectrum}}. {Maedica (Buchar)};2019 (Sep);14(3):240-246.
Background:Autism spectrum disorder has a big impact on family life. Mothers of children with autism face many challenges. This study was conducted to determine the effectiveness of group-based acceptance and commitment therapy on cognitive emotion regulation strategies in mothers of children with autism. Method:This is a quasi-experimental study with a pretest-posttest control group design. The research population included mothers of children with autism spectrum disorder referring to exceptional schools, who were living in Tehran. After cluster random sampling, 30 mothers of children with autism spectrum disorder were selected and randomly assigned to two groups: an experimental group and a control group, each consisting of 15 women. Participants responded to the cognitive emotion regulation questionnaire vulbefore and after intervention. The experimental group received group-based acceptance and commitment therapy (eight two-hour sessions), while no intervention was given to the control group. Results and conclusion:Covariance analysis of data showed that group-based acceptance and commitment therapy had a significant effect on positive/planning strategy refocusing (p=0.003), positive reappraisal (p=0.004), self-blaming (p=0.001), blaming others (p=0.007), considering a situation as disastrous (p=0.001), reception (p=0.008). However, there was not a significant difference in the dimensions of rumination (p=0.025). Therefore, it is recommended that welfare institutions and centers should provide a training plan based on acceptance and commitment therapy to improve the current cognitive emotion regulation strategies for mothers of children with autism spectrum.
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29. Schaffler MD, Middleton LJ, Abdus-Saboor I. {{Mechanisms of Tactile Sensory Phenotypes in Autism: Current Understanding and Future Directions for Research}}. {Curr Psychiatry Rep};2019 (Dec 5);21(12):134.
PURPOSE OF REVIEW: This review aims to summarize the current body of behavioral, physiological, and molecular knowledge concerning tactile sensitivity in autism spectrum disorder (ASD), with a focus on recent studies utilizing rodent models. RECENT FINDINGS: Mice with mutations in the ASD-related genes, Shank3, Fmr1, UBE3A, and Mecp2, display tactile abnormalities. Some of these abnormalities appear to be caused by mutation-related changes in the PNS, as opposed to changes in the processing of touch stimuli in the CNS, as previously thought. There is also growing evidence suggesting that peripheral mechanisms may contribute to some of the core symptoms and common comorbidities of ASD. Researchers are therefore beginning to assess the therapeutic potential of targeting the PNS in treating some of the core symptoms of ASD. Sensory abnormalities are common in rodent models of ASD. There is growing evidence that sensory hypersensitivity, especially tactile sensitivity, may contribute to social deficits and other autism-related behaviors.
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30. Sedgewick F, Leppanen J, Tchanturia K. {{The Friendship Questionnaire, autism, and gender differences: a study revisited}}. {Mol Autism};2019;10:40.
Background: The Friendship Questionnaire (FQ) is a widely used measure of friendships in autism research and beyond. This study sought to revisit the original paper where the measure was presented, using a larger sample of both autistic and non-autistic participants to examine gender differences in scoring. It also sought to expand upon the original paper by comparing FQ results to those of the Unidimensional Relationship Closeness Scale (URCS), to examine whether there are differences in how autistic people report on their general friendships in contrast to their most significant relationships. Methods: Participants were recruited for an online study, and 949 people (532 autistic, 417 non-autistic) aged between 18 and 81 took part. Participants completed a demographic questionnaire, the Autism Quotient-28, the Friendship Questionnaire, and the Unidimensional Relationship Closeness Scale. Results: We used robust regressions and Pearson’s correlational analyses, conducted in R. Autistic people scored lower than non-autistic people on the FQ, and similar gender differences in the pattern of FQ scores were seen in both groups. There was a significant negative correlation between AQ and FQ scores in both groups. On the URCS, we took the data from those who rated specific close relationships and found that autistic people scored this relationship more highly than non-autistic adults did. There was a significant negative correlation between AQ and URCS scores in both groups. Also, in both groups, there was a significant positive correlation between FQ and URCS scores. Limitations: The data is entirely self-report, and diagnoses could not be verified with a clinician, although AQ scores support self-identification as autistic. Also, the groups were not evenly matched on age and other demographic variables, although this was controlled for in analyses. It is also the case that more autistic than non-autistic people were unable to specify a close relationship to score on the URCS, meaning that a certain set of experiences are not represented in this data. Conclusions: We conclude that our data replicates the core finding of the original FQ paper that autistic people score lower on the FQ. In contrast to that paper, however, we found that there were gender differences among the autistic population. Also, our inclusion of the URCS suggests that the intimate romantic relationships and best-friendships of autistic people can be of similar quality to those of non-autistic people, suggesting that there may be important differences in autistic people’s relations with friends in general versus close friends and romantic partners.
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31. Seymour M, Giallo R, Wood CE. {{Perceptions of social support: comparisons between fathers of children with autism spectrum disorder and fathers of children without developmental disabilities}}. {J Intellect Disabil Res};2019 (Dec 5)
BACKGROUND: Research highlights the need for ongoing social support of mothers of children with Autism spectrum disorders (ASD). Despite recognised differences between mothers and fathers, little is known about the particular social support needs of fathers of children with ASD. Broadly, this study aimed to explore the support needs of fathers of children with ASD compared with fathers of children without a disability (W/OD) and the relation between social support, psychological distress and sociodemographic factors. METHOD: Drawing from a large, nationally representative community sample of children, 159 fathers of children with ASD were identified, where 6578 fathers of children W/OD were used as a comparison sample. RESULTS: Over 70% of fathers of children with ASD reported that support was inaccessible and were significantly more likely to report so compared with fathers of children W/OD. Emotional/informational social support was the strongest social support domain associated with fathers’ experiences of psychological distress. CONCLUSIONS: This study provided important insight into the social support needs of fathers of children with ASD.
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32. Sorensen T, Zane E, Feng T, Narayanan S, Grossman R. {{Cross-Modal Coordination of Face-Directed Gaze and Emotional Speech Production in School-Aged Children and Adolescents with ASD}}. {Sci Rep};2019 (Dec 4);9(1):18301.
Autism spectrum disorder involves persistent difficulties in social communication. Although these difficulties affect both verbal and nonverbal communication, there are no quantitative behavioral studies to date investigating the cross-modal coordination of verbal and nonverbal communication in autism. The objective of the present study was to characterize the dynamic relation between speech production and facial expression in children with autism and to establish how face-directed gaze modulates this cross-modal coordination. In a dynamic mimicry task, experiment participants watched and repeated neutral and emotional spoken sentences with accompanying facial expressions. Analysis of audio and motion capture data quantified cross-modal coordination between simultaneous speech production and facial expression. Whereas neurotypical children produced emotional sentences with strong cross-modal coordination and produced neutral sentences with weak cross-modal coordination, autistic children produced similar levels of cross-modal coordination for both neutral and emotional sentences. An eyetracking analysis revealed that cross-modal coordination of speech production and facial expression was greater when the neurotypical child spent more time looking at the face, but weaker when the autistic child spent more time looking at the face. In sum, social communication difficulties in autism spectrum disorder may involve deficits in cross-modal coordination. This finding may inform how autistic individuals are perceived in their daily conversations.
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33. Tan DW, Maybery MT, Ewing L, Tay JX, Eastwood PR, Whitehouse AJO. {{Sex-specific variation in facial masculinity/femininity associated with autistic traits in the general population}}. {Br J Psychol};2019 (Dec 5)
Reports linking prenatal testosterone exposure to autistic traits and to a masculinized face structure have motivated research investigating whether autism is associated with facial masculinization. This association has been reported with greater consistency for females than for males, in studies comparing groups with high and low levels of autistic traits. In the present study, we conducted two experiments to examine facial masculinity/femininity in 151 neurotypical adults selected for either low, mid-range, or high levels of autistic traits. In the first experiment, their three-dimensional facial photographs were subjectively rated by 41 raters for masculinity/femininity and were objectively analysed. In the second experiment, we generated 6-face composite images, which were rated by another 36 raters. Across both experiments, findings were consistent for ratings of photographs and composite images. For females, a linear relationship was observed where femininity ratings decreased as a function of higher levels of autistic traits. For males, we found a U-shaped function where males with mid-range levels of traits were rated lowest on masculinity. Objective facial analyses revealed that higher levels of autistic traits were associated with less feminine facial structures in females and less masculine structures in males. These results suggest sex-specific relationships between autistic traits and facial masculinity/femininity.
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34. Washington P, Paskov KM, Kalantarian H, Stockham N, Voss C, Kline A, Patnaik R, Chrisman B, Varma M, Tariq Q, Dunlap K, Schwartz J, Haber N, Wall DP. {{Feature Selection and Dimension Reduction of Social Autism Data}}. {Pac Symp Biocomput};2020;25:707-718.
Autism Spectrum Disorder (ASD) is a complex neuropsychiatric condition with a highly heterogeneous phenotype. Following the work of Duda et al., which uses a reduced feature set from the Social Responsiveness Scale, Second Edition (SRS) to distinguish ASD from ADHD, we performed item-level question selection on answers to the SRS to determine whether ASD can be distinguished from non-ASD using a similarly small subset of questions. To explore feature redundancies between the SRS questions, we performed filter, wrapper, and embedded feature selection analyses. To explore the linearity of the SRS-related ASD phenotype, we then compressed the 65-question SRS into low-dimension representations using PCA, t-SNE, and a denoising autoencoder. We measured the performance of a multilayer perceptron (MLP) classifier with the top-ranking questions as input. Classification using only the top-rated question resulted in an AUC of over 92% for SRS-derived diagnoses and an AUC of over 83% for dataset-specific diagnoses. High redundancy of features have implications towards replacing the social behaviors that are targeted in behavioral diagnostics and interventions, where digital quantification of certain features may be obfuscated due to privacy concerns. We similarly evaluated the performance of an MLP classifier trained on the low-dimension representations of the SRS, finding that the denoising autoencoder achieved slightly higher performance than the PCA and t-SNE representations.
35. Wright B, Mon-Williams M, Kelly B, Williams S, Sims D, Mushtaq F, Sohal K, Blackwell JE, Wright J. {{Investigating the association between early years foundation stage profile scores and subsequent diagnosis of an autism spectrum disorder: a retrospective study of linked healthcare and education data}}. {BMJ Paediatr Open};2019;3(1):e000483.
Objective: We set out to test whether the early years foundation stage profile (EYFSP) score derived from 17 items assessed by teachers at the end of reception school year had any association with autism spectrum disorder (ASD) diagnosis in subsequent years. This study tested the feasibility of successfully linking education and health data. Design: A retrospective data linkage study. Setting and participants: The Born in Bradford longitudinal cohort of 13, 857 children. Outcome measures: We linked the EYFSP score at the end of reception year with subsequent diagnosis of an ASD, using all ASD general practitioner Read codes. We used the total EYFSP score and a subscore consisting of five key items in the EYFSP, prospectively identified using a panel of early years autism experts. Results: This study demonstrated the feasibility of linking education and health data using ASDs as an exemplar. A total of 8,935 children had linked primary care and education data with 20.7% scoring <25 on the total EYFSP and 15.2% scoring <10 on a EYFSP subscore proposed by an expert panel prospectively. The rate of diagnosis of ASDs at follow-up was just under 1% (84 children), children scoring <25 on the total EYFSP had a 4.1% chance of ASD compared with 0.15% of the remaining children. Using the prospectively designed subscore, this difference was greater (6.4% and 0.12%, respectively). Conclusions: We demonstrate the feasibility of linking education and health data. Performance on teacher ratings taken universally in school reception class can flag children at risk of ASDs. Further research is warranted to explore the utility of EYFSP as an initial screening tool for ASD in early school years. Lien vers le texte intégral (Open Access ou abonnement)
36. Zhao Y, Zhang J, Wu M. {{Finding Users’ Voice on Social Media: An Investigation of Online Support Groups for Autism-Affected Users on Facebook}}. {Int J Environ Res Public Health};2019 (Nov 29);16(23)
The trend towards the use of the Internet for health information purposes is rising. Utilization of various forms of social media has been a key interest in consumer health informatics (CHI). To reveal the information needs of autism-affected users, this study centers on the research of users’ interactions and information sharing within autism communities on social media. It aims to understand how autism-affected users utilize support groups on Facebook by applying natural language process (NLP) techniques to unstructured health data in social media. An interactive visualization method (pyLDAvis) was employed to evaluate produced models and visualize the inter-topic distance maps. The revealed topics (e.g., parenting, education, behavior traits) identify issues that individuals with autism were concerned about on a daily basis and how they addressed such concerns in the form of group communication. In addition to general social support, disease-specific information, collective coping strategies, and emotional support were provided as well by group members based on similar personal experiences. This study concluded that Latent Dirichlet Allocation (LDA) is feasible and appropriated to derive topics (focus) from messages posted to the autism support groups on Facebook. The revealed topics help healthcare professionals (content providers) understand autism from users’ perspectives and provide better patient communications.
