1. Afsharnejad B, Falkmer M, Black MH, Alach T, Lenhard F, Fridell A, Coco C, Milne K, Chen NTM, Bolte S, Girdler S. {{Cross-Cultural Adaptation to Australia of the KONTAKT(c) Social Skills Group Training Program for Youth with Autism Spectrum Disorder: A Feasibility Study}}. {J Autism Dev Disord}. 2020.
This study investigated the feasibility and cultural validity of KONTAKT(c), a manualised social skills group training, in improving the social functioning of adolescents with autism spectrum disorder (ASD). KONTAKT(c) was delivered to 17 adolescents (mage = 14.09, SDage = 1.43; 70% male) with ASD over sixteen 90 min sessions. A pre-test post-test design evaluated changes in personally meaningful social goals, symptom severity, quality of life, interpersonal efficacy, social anxiety, loneliness, and facial emotion recognition at pre, post and 3 months follow-up. Focus groups were conducted post intervention. Findings indicate that KONTAKT(c) may support Australian adolescents with ASD in achieving their personally meaningful social goals. This study resulted in finalisation of KONTAKT(c) in preparation for evaluation of its efficacy in a randomised controlled trial (Australian New Zealand Clinical Registry (ANZCTR): ACTRN12617001117303, ClinicalTrials.gov: NCT03294668).
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2. Anderson L. {{Schooling for Pupils with Autism Spectrum Disorder: Parents’ Perspectives}}. {J Autism Dev Disord}. 2020.
The current study, based on a survey of 1799 parents, explored parental perspectives of school absence in relation to approved grades, challenges, demands and obstacles in education for children with autism spectrum disorder. The results revealed a relatively high rate of school absenteeism for reasons other than illness. Girls had higher rates of absenteeism than boys for short durations of absence. Absenteeism was primarily caused by a lack of teacher competence regarding autism and inadequate adaptation of teaching. There were no significant differences between genders in approved grades, but the rate of failure to achieve approved grades was approximately 50%. The most common form of educational support was support from special needs teachers and adapted pedagogy.
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3. Cai DC, Wang Z, Bo T, Yan S, Liu Y, Liu Z, Zeljic K, Chen X, Zhan Y, Xu X, Du Y, Wang Y, Cang J, Wang GZ, Zhang J, Sun Q, Qiu Z, Ge S, Ye Z, Wang Z. {{MECP2 duplication causes aberrant GABA pathways, circuits and behaviors in transgenic monkeys: neural mappings to patients with autism}}. {J Neurosci}. 2020.
MECP2 gain- and loss-of-function in genetically-engineered monkeys recapitulates typical phenotypes in autism, yet where MECP2 mutation affects the monkey brain and whether/how it relates to autism pathology remains unknown. Here we report a combination of gene-circuit-behavior analyses including MECP2 co-expression network, locomotive and cognitive behaviors, EEG and fMRI in five MECP2 overexpressed (Macaca fascicularis; 3 female) and twenty wild-type (Macaca fascicularis; 11 female) monkeys. Whole-genome expression analysis revealed MECP2 co-expressed genes significantly enriched in GABA-related signaling pathways, whereby reduced beta synchronization within fronto-parieto-occipital networks was associated with abnormal locomotive behaviors. Meanwhile, MECP2-induced hyper-connectivity in prefrontal and cingulate networks accounted for regressive deficits in reversal learning tasks. Furthermore, we stratified a cohort of 49 autisms and 72 controls out of 1112 subjects using functional connectivity patterns, and identified similar dysconnectivity profiles as in monkeys. By establishing a circuit-based construct link between genetically-defined models and stratified patients, these results pave new avenues to deconstruct clinical heterogeneity and advance accurate diagnosis in psychiatric disorders.Significance StatementAutism spectrum disorder (ASD) is a complex disorder with co-occurring symptoms caused by multiple genetic variations and brain circuit abnormalities. To dissect the gene-circuit-behavior causal chain underlying ASD, animal models are established by manipulating causative genes such as MECP2 However, it is unknown whether such models have captured any circuit-level pathology in ASD patients as demonstrated by human brain imaging studies. Here, we use transgenic macaques to examine the causal effect of MECP2 overexpression on gene co-expression, brain circuits and behaviors. For the first time, we demonstrate that the circuit abnormalities linked to MECP2 and autism-like traits in the monkeys can be mapped to a homogeneous ASD subgroup, thereby offering a new strategy to deconstruct clinical heterogeneity in ASD.
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4. Jorgenson C, Lewis T, Rose C, Kanne S. {{Social Camouflaging in Autistic and Neurotypical Adolescents: A Pilot Study of Differences by Sex and Diagnosis}}. {J Autism Dev Disord}. 2020.
Camouflaging is a process through which individuals mask autistic traits. Studies suggest autistic females may camouflage more than autistic males. However, research has focused on adults and includes few comparisons between autistic and neurotypical individuals. This study compared levels of camouflaging by sex and diagnosis in autistic and neurotypical adolescents. Females reported higher overall levels of camouflaging when not accounting for age. When accounting for age, an age by diagnosis interaction effect emerged. This possible effect of age on camouflaging has implications for understanding how camouflaging behaviors develop and warrants further exploration. Differences also emerged on behaviors labeled as masking and assimilation, subcomponents of camouflaging, with females appearing more similar to their neurotypical peers on behaviors related to social awareness.
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5. Kinnaird E, Stewart C, Tchanturia K. {{The relationship of autistic traits to taste and olfactory processing in anorexia nervosa}}. {Mol Autism}. 2020; 11(1): 25.
BACKGROUND: There is a heightened prevalence of autism in anorexia nervosa (AN) compared to the general population. Autistic people with AN experience a longer illness duration and poorer treatment outcomes. Whether sensory differences in autism could contribute to altered taste and smell as a potential maintaining factor in AN is under-explored. The aim of this study was to explore whether autistic traits are associated with taste and olfaction differences in AN. METHODS: The study recruited n = 40 people with AN, and n = 40 healthy controls (HC). Smell sensitivity was measured using the Sniffin’ Sticks test. Taste sensitivity was measured using taste strips. Participants self-rated their autistic traits using the Autism Spectrum Quotient. RESULTS: There were no significant differences on taste and olfactory outcomes between people with AN and HC. These findings did not change after controlling for the heightened levels of autistic traits in the AN group. No relationship between taste and smell outcomes and autistic traits were identified within the AN group. LIMITATIONS: The current study is not able to draw conclusions about taste and smell processing in co-occurring autism and AN as it only measured levels of autistic traits, rather than comparing people with and without an autism diagnosis. CONCLUSIONS: No significant associations between autistic traits and taste and smell processing in AN were identified. Future research should consider further exploring this area, including by comparing autistic women to women with AN.
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6. Lyu Y, Zhao D, Zhang K, Gao M, Ma J, Wang D, Gai Z, Liu Y. {{[Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing]}}. {Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics}. 2020; 37(4): 452-4.
OBJECTIVE: To explore the clinical and genetic features of a patient with mental retardation. METHODS: G-Banding chromosomal karyotyping and high-throughput sequencing was carried out for the child. Suspected variant was validated in his family by Sanger sequencing and bioinformatic analysis. RESULTS: The patient was found to carry a de novo heterozygous c.4090G>T (p.Gly1364X) variant of the ASXL3 gene, which was known to predispose to Bainbridge-Ropers syndrome. CONCLUSION: The nonsense c.4090G>T (p.Gly1364X) variant probably accounts for the disease in this patient.
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7. Mazzoni N, Landi I, Ricciardelli P, Actis-Grosso R, Venuti P. {{« Motion or Emotion? Recognition of Emotional Bodily Expressions in Children With Autism Spectrum Disorder With and Without Intellectual Disability »}}. {Front Psychol}. 2020; 11: 478.
The recognition of emotional body movement (BM) is impaired in individuals with Autistic Spectrum Disorder ASD, yet it is not clear whether the difficulty is related to the encoding of body motion, emotions, or both. Besides, BM recognition has been traditionally studied using point-light displays stimuli (PLDs) and is still underexplored in individuals with ASD and intellectual disability (ID). In the present study, we investigated the recognition of happy, fearful, and neutral BM in children with ASD with and without ID. In a non-verbal recognition task, participants were asked to recognize pure-body-motion and visible-body-form stimuli (by means of point-light displays-PLDs and full-light displays-FLDs, respectively). We found that the children with ASD were less accurate than TD children in recognizing both the emotional and neutral BM, either when presented as FLDs or PLDs. These results suggest that the difficulty in understanding the observed BM may rely on atypical processing of BM information rather than emotion. Moreover, we found that the accuracy improved with age and IQ only in children with ASD without ID, suggesting that high level of cognitive resources can mediate the acquisition of compensatory mechanisms which develop with age.
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8. Nabgha EA, Eqani S, Khuram F, Alamdar A, Tahir A, Shah STA, Nasir A, Javed S, Bibi N, Hussain A, Rasheed H, Shen H. {{Environmental exposure pathway analysis of trace elements and autism risk in Pakistani children population}}. {The Science of the total environment}. 2020; 712: 136471.
The pursuit of industrialization and urbanization in developing countries disrupt the fragile environment, resulting in biogeochemical extra-emission of the trace elements into human inhabitance causing serious health concerns. We aimed to determine the associations between Autism spectrum disorder (ASD) risk and exposure to trace elements (As, Zn, Ni, Pb, Hg, Cu, Cd, and Co), associations between the internal doses and environmental sources of these elements were also assessed. Genetic susceptibility to toxins was assessed through GSTT1 and GSTM1 null polymorphism analysis. Our results showed that lower BMI in children was significantly associated with ASD (p < 0.05, AOR = 0.86; 95% CI: 0.76, 0.98). As was significantly higher in both hair (p < 0.01, AOR = 18.29; 95% CI: 1.98, 169) and urine (p < 0.01, AOR = 1.04; 95% CI: 1.01, 1.06) samples from children with ASD; urinary Hg (p < 0.05, AOR = 2.90; 95% CI: 1.39, 6.07) and Pb (p < 0.05, AOR = 1.95; 95% CI: 1.01, 3.77) were also positively associated with ASD. Regarding the genetic susceptibility, Cu was significantly associated with GSTM1 positive genotype (p < 0.05, AOR = 1.05; 95% CI: 1.00, 1.10). Children inhabiting the urban areas exposed to significantly higher levels of studied trace elements. The Estimated Daily Intake (EDI) values highlighted that the different land use settings resulted in children's source specific exposure to studied trace elements. The exposure pathway analysis showed that the distal factors of land-use settings associated with children increased exposure risk for most of the investigated elements, noticeably As, Pb and Hg associated with ASD prevalence. Lien vers le texte intégral (Open Access ou abonnement)
9. Richards N, Crane L. {{The Development and Feasibility Study of a Multimodal ‘Talking Wall’ to Facilitate the Voice of Young People with Autism and Complex Needs: A Case Study in a Specialist Residential School}}. {J Autism Dev Disord}. 2020.
Limited research has examined methods to investigate the views, preferences and experiences of young people with autism and complex needs. The aim of this study, based at a specialist residential school in England, was to develop and pilot an innovative method for this purpose-a ‘Talking Wall’-that was trialled over a 6-month period. Thematic analysis of data from focus groups and semi structured interviews with staff, combined with structured observations of pupils, resulted in three key themes: supporting the expression and evaluation of emotions that underlie preferences; recognising the impact of transitions; and the important role of familiar adults in interpreting communication bids. These positive, initial findings suggest the Talking Wall approach merits further development and evaluation.
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10. Schwarz K, Moessnang C, Schweiger JI, Baumeister S, Plichta MM, Brandeis D, Banaschewski T, Wackerhagen C, Erk S, Walter H, Tost H, Meyer-Lindenberg A. {{Transdiagnostic Prediction of Affective, Cognitive, and Social Function Through Brain Reward Anticipation in Schizophrenia, Bipolar Disorder, Major Depression, and Autism Spectrum Diagnoses}}. {Schizophr Bull}. 2020; 46(3): 592-602.
The relationship between transdiagnostic, dimensional, and categorical approaches to psychiatric nosology is under intense debate. To inform this discussion, we studied neural systems linked to reward anticipation across a range of disorders and behavioral dimensions. We assessed brain responses to reward expectancy in a large sample of 221 participants, including patients with schizophrenia (SZ; n = 27), bipolar disorder (BP; n = 28), major depressive disorder (MD; n = 31), autism spectrum disorder (ASD; n = 25), and healthy controls (n = 110). We also characterized all subjects with an extensive test battery from which a cognitive, affective, and social functioning factor was constructed. These factors were subsequently related to functional responses in the ventral striatum (vST) and neural networks linked to it. We found that blunted vST responses were present in SZ, BP, and ASD but not in MD. Activation within the vST predicted individual differences in affective, cognitive, and social functioning across diagnostic boundaries. Network alterations extended beyond the reward network to include regions implicated in executive control. We further confirmed the robustness of our results in various control analyses. Our findings suggest that altered brain responses during reward anticipation show transdiagnostic alterations that can be mapped onto dimensional measures of functioning. They also highlight the role of executive control of reward and salience signaling in the disorders we study and show the power of systems-level neuroscience to account for clinically relevant behaviors.
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11. Shen X, Qi F, Gu C. {{[Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene]}}. {Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics}. 2020; 37(4): 459-61.
OBJECTIVE: To explore the genetic basis for a child featuring delayed intellectual development. METHODS: The child and his parents were subjected to conventional G-banding karyotyping and single nucleotide polymorphism array (SNP-array) analysis. Suspected copy number variations (CNVs) were verified in both parents. RESULTS: No karyotypic abnormality was found with the child and his parents. SNP-array results for both parents were normal. The child was found to harbor a de novo 172 kb deletion at 18q21.2 with a physical position of 52 957 042-53 129 237. The deletion only involved one OMIM gene, namely TCF4, resulting in removal of its exons 6 to 8. CONCLUSION: The SNP-array assay has facilitated with the diagnosis of this child. Deletion of 18q21.2 region probably accounts for the Pitt-Hopkins syndrome (PTHS) in this patient.
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12. Yin F, Wang H, Liu Z, Gao J. {{Association between peripheral blood levels of C-reactive protein and Autism Spectrum Disorder in children: A systematic review and meta-analysis}}. {Brain, behavior, and immunity}. 2020.
INTRODUCTION: In the past five years, a growing number of studies have tried to illustrate the association between the peripheral blood level of C-reactive protein (CRP) and Autism Spectrum Disorders (ASD). However, the results have been inconsistent. To assess whether abnormal CRP in peripheral blood was associated with ASD, we conducted a systematic review and meta-analysis. METHODS: A systematic literature search was performed using the Embase, PubMed, Web of Knowledge, PsycINFO, and Cochrane databases through August 27, 2019. Reference lists were also checked by hand-searching. Clinical studies exploring CRP concentration in the peripheral blood of autistic children and healthy controls were included in our meta-analysis. Overlapping samples were excluded. We pooled obtained data using a fixed- or random-effect model based on a heterogeneity test with Comprehensive Meta-Analysis software and STATA software. Standardized mean differences were converted to Hedges’ g statistic in order to obtain the effect size adjusted for sample size. Subgroup analyses, sensitivity analyses, meta-regression, and publication bias tests were also undertaken. RESULTS: Nine studies with 592 ASD children and 604 healthy children were included in our meta-analysis. Significantly elevated CRP levels in peripheral blood were found in ASD children compared with healthy controls (Hedges’ g = 0.527, 95% CI: 0.224-0.830, p = 0.001). Subgroup analyses based on sample types and ethnicity also showed similar results, except for the plasma subgroup. There was also a significant association between peripheral CRP concentration and ASD after removing the studies identified by Galbraith plots. The results of the sensitivity analysis revealed that no single study could reverse our results. Meta-regression analyses revealed that the gender of autistic children had a moderating effect on the outcome of the meta-analysis. In addition, no obvious publication bias was found in the meta-analysis. CONCLUSIONS AND RELEVANCE: In our study, peripheral CRP levels were significantly elevated in autistic children compared with healthy children. These results may provide us some new insights about ASD.
