1. Adams D, Young K, Simpson K, Keen D. {{Parent descriptions of the presentation and management of anxiousness in children on the autism spectrum}}. {Autism}. 2018: 1362361318794031.
The complex interaction between anxiety and autism has led to debate about the presentation of anxiety in individuals on the spectrum and questions about the extent to which traditional checklists assess the entire range of symptomatology. Moreover, studies to date have not explored how the presentation of anxiety may differ between settings. Through a combination of open-ended questions, closed questions and standardised measures, parents of 173 children (aged 6-13) on the autism spectrum provided (1) descriptors of their child’s anxiety at home, school and in the community and (2) strategies used to reduce their child’s anxiety in each setting. Over half (52.6%) felt their child was anxious at home, 77.6% at school and 76.2% in the community. Parents reported differing presentations of anxiety between settings, with the majority of descriptions relating to observable, behavioural changes (e.g. hides/shuts down, repetitive behaviours) rather than cognitive or physiological signs. Parents also reported using different strategies across settings. The use of open-ended questions allowed the identification of signs of anxiety not explored within traditional questionnaires and highlighted the potential for signs to vary across settings. This knowledge is critical to inform the development or adaptations of anxiety measures and interventions.
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2. Bazelmans T, Jones EJH, Ghods S, Corrigan S, Toth K, Charman T, Webb SJ. {{Heart rate mean and variability as a biomarker for phenotypic variation in preschoolers with autism spectrum disorder}}. {Autism Res}. 2018.
Interest in autonomic arousal in autism spectrum disorder (ASD) is increasing; however, reliability of these measures in ASD is unknown, and previously reported associations with social and cognitive abilities are inconsistent. This study assesses heart rate (HR) and HR variability (HRV) in preschoolers with ASD or typical development (TD) while they passively watched naturalistic videos. Measurement reliability, group differences, and the relationship with social and cognitive abilities were evaluated. Seventy one ASD and 66 TD children (2-4 years) provided cardiac data from two sessions. Test-retest intraclass correlations of HR and HRV over a 3-week period were moderate to good in both groups. Groups did not differ in mean level of HR or HRV. Intra-individual variability of HR between video segments within a session was higher in the ASD group, but intraclass correlations of this metric were low. Higher HR related to better language skills in TD children, but not after accounting for age and nonverbal ability. Higher HRV related to better expressive and receptive language in ASD children after controlling for age and nonverbal ability. HR/HRV were not related to social or executive functioning skills and did not explain any additional variance in abilities at a 12-month follow-up visit. In summary, variation in language abilities is associated with HR in the TD group and HRV in the ASD group. While preliminary, these results are promising for consideration of autonomic control as a biomarker for individual differences in ASD and may help us understand the mechanisms that contribute to communication skills. LAY SUMMARY: Cardiac activity, such as heart rate and heart rate variability, is linked to a wide range of psychological functions. This study shows that there is an association between heart rate and heart rate variability and language skills in young children with autism spectrum disorder (ASD). These results may help us understand what underlies individual differences in developmental abilities in young children with ASD.
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3. Bellesheim KR, Cole L, Coury DL, Yin L, Levy SE, Guinnee MA, Klatka K, Malow BA, Katz T, Taylor J, Sohl K. {{Family-Driven Goals To Improve Care for Children With Autism Spectrum Disorder}}. {Pediatrics}. 2018.
OBJECTIVES: Constipation and insomnia are not consistently identified and treated in children with autism spectrum disorder (ASD) despite their high prevalence and deleterious impact in this population. To standardize care, a constipation practice pathway and an insomnia practice pathway were previously developed by Autism Treatment Network clinicians. Our objective was to implement and refine these practice pathways in clinical settings. METHODS: Eleven Autism Treatment Network sites participated in a Learning Collaborative (ie, multidisciplinary quality improvement team) and chose to implement either the constipation or insomnia practice pathway in the clinical setting. Families set intervention goals (eg, increase stool frequency, decrease nighttime awakenings) before treatment. Each site began implementation with 1 patient and then increased implementation by factors of 5. Before each increase, the Learning Collaborative evaluated progress and refined the practice pathways. Process improvement was measured primarily by duration until goal attainment and by percentage of families who meet their goals. RESULTS: Across sites, 82 children with ASD and constipation and 101 children with ASD and insomnia were managed. Difficulties with intervention adherence and communication between providers and families were reported and were subsequently improved with parallel refinements to both practice pathways. The most notable modification was incorporating a goal-setting session in which families generated their own intervention goals (ie, family-driven goals). In this quality improvement initiative, 75% of families met at least 1 constipation or insomnia goal, with the median time to improvement being 6 weeks. CONCLUSIONS: By integrating a family-centered approach into the standardization of care, constipation and insomnia practice pathways may improve engagement, adherence, and management of medical conditions in children with ASD.
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4. Berding K, Donovan SM. {{Diet Can Impact Microbiota Composition in Children With Autism Spectrum Disorder}}. {Front Neurosci}. 2018; 12: 515.
Diet is one of the most influential environmental factors in determining the composition of the gastrointestinal microbiota. Microbial dysbiosis in children with Autism Spectrum Disorder (ASD) and the impact of some bacterial taxa on symptoms of ASD has been recognized. Children with ASD are often described as picky eaters with low intake of fiber-rich foods, including fruits and vegetables. However, the impact of diet on the microbiota composition in children with ASD is largely unknown. Herein, fecal samples, 3 day food diaries and the Youth and Adolescence Food Frequency questionnaire (YAQ) were collected from children with ASD (ASD; n = 26) and unaffected controls (CONT; n = 32). Children’s ASD symptoms were determined using the Pervasive Developmental Disorder Behavior Inventory Screening Version (PDDBI-SV). Differences in the microbiota composition at the phyla, order, family, and genus level between ASD and CONT were observed. Microbiota composition of children with ASD was investigated in relation to feeding behavior, nutrient and food group intake as well as dietary patterns derived from the YAQ. In children with ASD, two distinct dietary patterns (DP) were associated with unique microbial profiles. DP1, characterized by higher intakes of vegetables, legumes, nuts and seeds, fruit, refined carbohydrates, and starchy vegetables, but lower intakes of sweets, was associated with lower abundance of Enterobacteriaceae, Lactococcus, Roseburia, Leuconostoc, and Ruminococcus. DP2, characterized by low intakes of vegetables, legumes, nuts and seeds and starchy vegetables, was associated with higher Barnesiellaceae and Alistipes and lower Streptophyta, as well as higher levels of propionate, isobutyrate, valerate, and isovalerate. Peptostreptococcaceae and Faecalibacterium predicted social deficit scores in children with ASD as measured by the PDDBI-SV. Diet-associated microbial profiles were related to GI symptoms, but no significant interaction between nutrition and microbiota in predicting social deficit scores were observed. In conclusion, dietary patterns associated with fecal microbiota composition and VFA concentrations in children with ASD were identified. Future studies using a larger sample size and measuring other behaviors associated with ASD are needed to investigate whether dietary intake may be a modifiable moderator of ASD symptoms.
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5. Bhayana A, Bhayana B. {{Approach to developmental disabilities in newcomer families}}. {Canadian family physician Medecin de famille canadien}. 2018; 64(8): 567-73.
OBJECTIVE: To provide a framework for primary care providers to approach developmental disabilities in both refugee and nonrefugee immigrant populations. SOURCES OF INFORMATION: Ovid MEDLINE was searched from January 2005 to February 2017 using subject headings developmental disability, developmental delay, refugee, and immigrant for relevant English-language articles. Most of the content and recommendations in this review are derived from the Canadian Paediatric Society’s Caring for Kids New to Canada website. MAIN MESSAGE: As family physicians, it can be daunting to care for newcomer families who arrive without previous developmental disability or delay screening and diagnoses. Disruption to families and education, decreased health literacy, witnessed traumatic events, and culturally specific barriers can affect the presentation of developmental concerns among refugees and immigrants. Surveillance and screening for developmental concerns in a culturally sensitive manner using evidence-based tools are cornerstones of early intervention. CONCLUSION: For refugees in particular, in light of the inequities they have faced before migration and during their migration trajectory, screening for developmental disabilities and intervening provides an opportunity to help achieve equitable outcomes for refugee children and optimize their health and well-being.
6. Brown AS, Cheslack-Postava K, Rantakokko P, Kiviranta H, Hinkka-Yli-Salomaki S, McKeague IW, Surcel HM, Sourander A. {{Association of Maternal Insecticide Levels With Autism in Offspring From a National Birth Cohort}}. {Am J Psychiatry}. 2018: appiajp201817101129.
OBJECTIVE: Autism is a complex neurodevelopmental disorder with a largely unknown etiology. To date, few studies have investigated prenatal exposure to toxins and risk of autism by using maternal biomarkers of exposure. Persistent organic pollutants are lipophilic halogenated organic compounds and include the insecticide dichlorodiphenyltrichloroethane (DDT), as well as its metabolite p,p’-dichlorodiphenyl dichloroethylene (p,p’-DDE), and polychlorinated biphenyls (PCBs). The objective of this study was to test whether elevated maternal levels of persistent organic pollutants are associated with autism among offspring. METHOD: The investigation was derived from the Finnish Prenatal Study of Autism, a national birth cohort study based on a nested case-control design. Cases of autism among children born between 1987 and 2005 were ascertained by national registry linkages. In cases of childhood autism and matched control subjects (778 matched case-control pairs), maternal serum specimens from early pregnancy were assayed for levels of p,p’-DDE and total levels of PCBs. RESULTS: The odds of autism among offspring were significantly increased with maternal p,p’-DDE levels that were in the highest 75th percentile, with adjustment for maternal age, parity, and history of psychiatric disorders (odds ratio=1.32, 95% CI=1.02, 1.71). The odds of autism with intellectual disability were increased by greater than twofold with maternal p,p’-DDE levels above this threshold (odds ratio=2.21, 95% CI=1.32, 3.69). There was no association between total levels of maternal PCBs and autism. CONCLUSIONS: These findings provide the first biomarker-based evidence that maternal exposure to insecticides is associated with autism among offspring. Although further research is necessary to replicate this finding, this study has implications for the prevention of autism and may provide a better understanding of its pathogenesis.
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7. Chez M, Kile S, Lepage C, Parise C, Benabides B, Hankins A. {{A Randomized, Placebo-Controlled, Blinded, Crossover, Pilot Study of the Effects of Dextromethorphan/Quinidine for the Treatment of Neurobehavioral Symptoms in Adults with Autism}}. {J Autism Dev Disord}. 2018.
Prior studies have demonstrated successful irritability treatment using dopaminergic antagonists in autistic patients. The purpose of this pilot study was to assess the effect of dextromethorphan/quinidine (DM/Q) in autistic adults (18-60 years of age). This was a randomized, blinded, crossover, study of 14 patients randomized to DM/Q or a placebo for 8 weeks, washed out for 4 weeks, then crossed over to the opposite treatment. There were no serious adverse events. Subjects were significantly lower on the Aberrant Behavioral Checklist for Irritability (ABC-IR) (F1,10 = 7.42; p = 0.021). Improvements in aggression and Clinical Global Impression were also seen. The findings suggest that DM/Q is well-tolerated and associated with improvements in irritability and aggression in adults with autism.
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8. Fitzpatrick P, Frazier JA, Cochran D, Mitchell T, Coleman C, Schmidt RC. {{Relationship Between Theory of Mind, Emotion Recognition, and Social Synchrony in Adolescents With and Without Autism}}. {Front Psychol}. 2018; 9: 1337.
Difficulty in social communication and interaction is a primary diagnostic feature of ASD. Research has found that adolescents with ASD display various impairments in social behavior such as theory of mind (ToM), emotion recognition, and social synchrony. However, not much is known about the relationships among these dimensions of social behavior. Adolescents with and without ASD participated in the study. ToM ability was measured by viewing social animations of geometric shapes, recognition of facial emotions was measured by viewing pictures of faces, and synchrony ability was measured with a spontaneously arising interpersonal movement task completed with a caregiver and an intentional interpersonal task. Attention and social responsiveness were measured using parent reports. We then examined the relationship between ToM, emotion recognition, clinical measures of attention and social responsiveness, and social synchronization that arises either spontaneously or intentionally. Results indicate that spontaneous synchrony was related to ToM and intentional synchrony was related to clinical measures of attention and social responsiveness. Facial emotion recognition was not related to either ToM or social synchrony. Our findings highlight the importance of biological motion perception and production and attention for more fully understanding the social behavior characteristic of ASD. The findings suggest that the processes underlying difficulties in spontaneous synchrony in ASD are different than the processes underlying difficulties in intentional synchronization.
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9. Hampton LH, Curtis PR, Roberts MY. {{Autism at a glance: A pilot study optimizing thin-slice observations}}. {Autism}. 2018: 1362361318792872.
Borrowing from a clinical psychology observational methodology, thin-slice observations were used to assess autism characteristics in toddlers. Thin-slices are short observations taken from a longer behavior stream which are assigned ratings by multiple raters using a 5-point scale. The raters’ observations are averaged together to assign a « thin-slice » value for each observation. In this study, a total of 60 toddlers were selected from a video archive: 20 children with typical development, 20 children with developmental language disorder, and 20 children with autism. In the first part of this study, 20 raters observed small play segments between toddlers and an assessor. Raters assigned scores to each of the 60 toddlers on items related to autism symptomatology. Item analysis and generalizability and decision studies were conducted to determine the factor structure and optimal number of raters to achieve a stable estimate of autism characteristics. In the second part of the study, generalizability and decision studies were conducted to determine the most efficient and optimal combination of raters and naturalistic contexts. This pilot study provides recommendations for optimizing the utility of thin-slice observations for measuring autism symptomatology in young children.
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10. Le Gall E, Iakimova G. {{Cognition sociale dans la schizophrénie et les troubles du spectre de l’autisme : points de convergences et différences fonctionnelles}}. {L’Encephale}. 2018.
INTRODUCTION: Schizophrenia and autistic spectrum disorder (ASD) are two neurodevelopmental disorders that have different symptom presentations, ages of onset and developmental courses. Both schizophrenia and ASD are characterized by marked deficit in communication, social interactions, affects and emotions. Social cognitive impairments in ASD and schizophrenia were demonstrated separately in both disorders. It was reported that these impairments have direct relation with social deficits of both disorders. The apparent similarity between social cognition impairments in ASD and schizophrenia highlights questions about the existence of common or different neurocognitive mechanisms related to social dysfunctions. In order to examine these questions, the present article provides a comprehensive review of all published studies which directly compare individuals with ASD and schizophrenia on the same cognitive tasks of social cognition. METHODS: The article search was made on Pubmed, PsycInfo and ScienceDirect, with the items: « autism », « Asperger syndrome », « schizophrenia », « social cognition », « theory of mind », « emotional processing », « social perception », « attributions style ». All published studies which compared individuals with ASD and schizophrenia, (diagnosed according to DSM-IV (APA, 1994) criteria and IQ>/=70), included control group were considered. The cognitive tasks were categorized according to four domains of social cognition defined by SCOPE (Pinkham et al., 2013): theory of mind (ToM), emotional processing (EP), social perception (SP) and attributional style/bias. The results were analyzed in terms of performances, cognitive profile and patterns of neural activations. Twenty-one published studies and two meta-analytic reviews were analyzed. RESULTS: Cognitive performance analysis confirms the convergence of abnormalities of people with autism and people with schizophrenia on 1st and 2nd order theory of mind, emotion processing and social perception. Quantitative results show reduced performance in ASD compared to SZ and Ct groups. Differences were observed between ASD and SZ regarding social situation comprehension, visual orientation and visuospatial exploration strategies, and attributional style highlighting different strategies on intentional process. Brain imaging studies show that people with autism present a reduced cerebral activity in several key regions of theory of mind (cingulate regions, superior temporal sulcus, paracentral lobule), and emotional treatment (primary and secondary somatosensory regions), while people with SZ exhibit an inappropriate increased activity in these regions. CONCLUSION: The present revue of the studies which directly compare individuals with ASD and schizophrenia on different domains of social cognition indicates that both disorders exhibit differences and similarities with regard to behavioral performances. Results in neuroimaging indicate different neurocognitive mechanisms underlie apparently similar social-cognitive impairments. Further studies are needed to better explore and describe divergent neurocognitive mechanisms in ASD and schizophrenia in order to provide treatment and remediation methods that take into account the specificities of neurocognitive processes in the two disorders.
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11. Levman J, Vasung L, MacDonald P, Rowley S, Stewart N, Lim A, Ewenson B, Galaburda A, Takahashi E. {{Regional Volumetric Abnormalities in Pediatric Autism Revealed by Structural Magnetic Resonance Imaging}}. {Int J Dev Neurosci}. 2018.
Autism is a group of complex neurodevelopmental disorders characterized by impaired social interaction, restricted and repetitive behavior. We performed a large-scale retrospective analysis of 1,996 structural magnetic resonance imaging (MRI) examinations of the brain from 1,769 autistic and neurologically typically developing patients (aged 0 to 32 years), and extracted regional volumetric measurements distributed across 463 brain regions of each patient. The youngest autistic patients (< 2.5 years) were diagnosed after imaging and identified retrospectively. Our study demonstrates increased corpus callosum volumes among autistic patients in early childhood (0 to 5 years old), followed by a shift towards known decreased volumes in later ages. Results confirm known increases in ventricular volumes among autistic populations and extends those findings to increased volumes of the choroid plexus. Our study also demonstrates distributed volumetric abnormalities among autistic patients that affect a variety of key regional white and grey matter areas of the brain potentially associated with known symptoms of autism. Lien vers le texte intégral (Open Access ou abonnement)
12. Lucibello S, Verdolotti T, Giordano FM, Lapenta L, Infante A, Piludu F, Tartaglione T, Chieffo D, Colosimo C, Mercuri E, Battini R. {{Brain morphometry of preschool age children affected by autism spectrum disorder: correlation with clinical findings}}. {Clinical anatomy (New York, NY)}. 2018.
INTRODUCTION: The aim of our study was to use a combined imaging and clinical approach to identify possible patterns of clinical and imaging findings in a cohort of preschool age Autism Spectrum Disorder (ASD) patients. MATERIAL AND METHODS: In order to identify imaging patterns that could be related to specific clinical features, a selected group of ASD patients (age range 3-6 years) without dysmorphic features, epilepsy or other major neurological signs, malformations or other lesions at MRI was subjected to brain volumetric analysis using semiautomatic brain segmentation. An age-matched group of typically developing children was subjected to the same analysis. RESULTS: Our results were consistent with previous literature: Total Gray Matter Volume, Total Cortical Gray Matter Volume and amygdalar volumes were significantly greater in the ASD group than the control group. When we divided the study group into subgroups on the basis of clinical findings such as high- or low-functioning, or verbal and non-verbal, the only significant difference between verbal and non-verbal subjects was in cerebellar hemispheric size. CONCLUSIONS: Our results confirm that newer brain MRI techniques using semiautomatic brain segmentation can provide information useful for defining the differences between ASD patients and controls, particularly if they form part of an integrated approach between MRI and cognitive-behavioral and genetic data. This article is protected by copyright. All rights reserved.
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13. Qian L, Wang Y, Chu K, Li Y, Xiao C, Xiao T, Xiao X, Qiu T, Xiao Y, Fang H, Ke X. {{Alterations in hub organization in the white matter structural network in toddlers with autism spectrum disorder: A 2-year follow-up study}}. {Autism Res}. 2018.
Little is currently known about the longitudinal developmental patterns of hubs in the whole-brain white matter (WM) structural networks among toddlers with autism spectrum disorder (ASD). This study utilized diffusion tensor imaging (DTI) and deterministic tractography to map the WM structural networks in 37 ASD toddlers and 27 age-, gender- and developmental quotient-matched controls with developmental delay (DD) toddlers aged 2-3 years old at baseline (Time 1) and at 2-year follow-up (Time 2). Furthermore, graph-theoretical methods were applied to investigate alterations in the network hubs in these patients at the two time points. The results showed that after 2 years, 17 hubs were identified in the ASD subjects compared to the controls, including 13 hubs that had not changed from baseline and 4 hubs that were newly identified. In addition, alterations in the properties of the hubs of the right middle frontal gyrus, right insula, left median cingulate gyri, and bilateral precuneus were significantly correlated with alterations in the behavioral data for ASD patients. These results indicated that at the stage of 2-5 years of age, ASD children showed distributions of network hubs that were relatively stable, with minor differences. Abnormal developmental patterns in the five areas mentioned above in ASD may contribute to abnormalities in the social and nonsocial characteristics of this disorder. LAY SUMMARY: This work studied the longitudinal developmental patterns of hubs in the whole-brain white matter (WM) structural network among toddlers with autism spectrum disorder (ASD). The findings of this study could have implications for understanding how the abnormalities in hub organization in ASD account for behavioral deficits in patients and may provide potential biomarkers for disease diagnosis and the subsequent monitoring of progression and treatment effects for patients with ASD.
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14. Sajdel-Sulkowska EM, Makowska-Zubrycka M, Czarzasta K, Kasarello K, Aggarwal V, Bialy M, Szczepanska-Sadowska E, Cudnoch-Jedrzejewska A. {{Common Genetic Variants Link the Abnormalities in the Gut-Brain Axis in Prematurity and Autism}}. {Cerebellum (London, England)}. 2018.
This review considers a link between prematurity and autism by comparing symptoms, physiological abnormalities, and behavior. It focuses on the bidirectional signaling between the microbiota and the brain, here defined as the microbiota-gut-vagus-heart-brain (MGVHB) axis and its systemic disruption accompanying altered neurodevelopment. Data derived from clinical and animal studies document increased prevalence of gastrointestinal, cardiovascular, cognitive, and behavioral symptoms in both premature and autistic children and suggest an incomplete maturation of the gut-blood barrier resulting in a « leaky gut, » dysbiosis, abnormalities in vagal regulation of the heart, altered development of specific brain regions, and behavior. Furthermore, this review posits the hypothesis that common genetic variants link the abnormalities in the MGVHB axis in premature and autistic pathologies. This hypothesis is based on the recently identified common genetic variants: early B cell factor 1 (EBF1), selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC), and angiotensin II receptor type 2 (AGTR2), in the maternal and infant DNA samples, associated with risk of preterm birth and independently implicated in a risk of autism. We predict that the AGTR2 variants involved in the brain maturation and oxytocin-arginine-vasopressin (OXT-AVP) pathways, related to social behavior, will contribute to our understanding of the link between prematurity and autism paving a way to new therapies.
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15. Sanberg SA, Kuhn BR, Kennedy AE. {{Correction to: Outcomes of a Behavioral Intervention for Sleep Disturbances in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
The original version of this article unfortunately contained errors. The errors induced during the production process are corrected. The correct keywords, figures and tables are given below.
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16. Stainbrook JA, Weitlauf AS, Juarez AP, Taylor JL, Hine J, Broderick N, Nicholson A, Warren Z. {{Measuring the service system impact of a novel telediagnostic service program for young children with autism spectrum disorder}}. {Autism}. 2018: 1362361318787797.
As prevalence of autism spectrum disorder continues to increase, so too does the need for timely, accessible diagnostic consultation. The present work extends from a previous study which provided preliminary evidence for the feasibility of expert clinicians to utilize telemedicine to triage autism spectrum disorder risk in young children. However, it did not examine whether a telediagnostic model had a demonstrable impact on tertiary care center referrals and usage. We therefore examined whether the introduction of telemedicine-based diagnostic consultation for families served by a rural medical facility affected referrals overall as well as to a metropolitan tertiary care diagnostic center. Results suggest that telemedicine diagnostic consultation in partnership with a referring early intervention system may positively impact referrals for diagnostic evaluation as well as the ability of families to schedule and attend appointments.
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17. Wang L, Li J, Shuang M, Lu T, Wang Z, Zhang T, Yue W, Jia M, Ruan Y, Liu J, Wu Z, Zhang D, Wang L. {{Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population}}. {Translational psychiatry}. 2018; 8(1): 152.
Cytogenetic studies suggested that chromosome 15q11-q13 might be a candidate region that increases the risk of autism. Previous association studies in Caucasian populations identified the risk variants of genes in this region. However, the association of these genes with autism in Chinese Han population remains unclear. Herein, 512 autism trios were utilized for a family-based association study of 41 tag single nucleotide polymorphisms (SNPs) in this region to explore the association between protein-coding genes on chromosome 15q11-q13 and autism in Chinese Han population. Furthermore, we sequenced these autism-related genes to detect rare variants in 512 autism trios and 575 healthy controls. Our results showed that the C allele of rs7180500 in GABRG3 was a risk variant for autism (p = 0.00057). The expression quantitative trait loci (eQTL) analysis revealed that the C allele of rs7180500 might be associated with the expression of GABRG3 in the cerebellum (Braineac: p = 0.0048; GTEx: p = 0.0010). Moreover, the sequencing identified two rare variants rs201602655 (p.Val233Met) and rs201427468 (p.Pro365Ser) in GABRG3 and six rare variants in GABRB3 in autistic patients. Among these variants, rs201602655 (p.Val233Met) in GABRG3 were observed in 9 of 512 autistic children and 2 of 575 healthy controls (Pearson chi(2)-test, chi(2) = 5.375, p = 0.020). The functional prediction indicated that rs201602655 (p.Val233Met) might be deleterious. Thus, these findings demonstrated that GABRG3 might contribute to the pathogenesis of autism in Chinese Han population.
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18. Yingling ME, Bell BA. {{Racial-ethnic and neighborhood inequities in age of treatment receipt among a national sample of children with autism spectrum disorder}}. {Autism}. 2018: 1362361318791816.
The aim of this study is to examine the impact of child race-ethnicity and neighborhood characteristics on age of treatment receipt among children with autism spectrum disorder. Here, we included 1309 children diagnosed with autism spectrum disorder in the National Survey of Children’s Health, 2011-2012. Controlling for key covariates, we used a weighted generalized logit model to analyze differences in age of treatment receipt (<2 years, 2 years, 3 years, and 4 years). Compared to non-Hispanic White children, the relative probability (odds) of entering treatment at 3 years and 4 years rather than <2 years was 326% and 367% higher, respectively, for non-Hispanic Black children. Compared to children whose parents perceived their neighborhood to be cohesive, the relative probability of entering treatment at 2 years and 3 years rather than <2 years was 59% and 61% lower, respectively, for children whose parents did not. Significant racial-ethnic and neighborhood inequities exist in age of treatment receipt, suggesting a need for research that explores the underlying causal mechanisms of inequities. Lien vers le texte intégral (Open Access ou abonnement)
