Pubmed du 28/07/19

dimanche 28 juillet 2019

1. Accardo J. Food selectivity in autism : Expanding the palate (and palette). J Pediatr ;2019 (Aug) ;211:1-3.

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2. Amir Bolandparvaz BS, Rian Harriman BS, Alvarez K, Lilova K, Zang Z, Andy Lam BS, Edmiston E, Navrotsky A, Vapniarsky-Arzi N, Van De Water J, Lewis JS. Towards a nanoparticle-based prophylactic for maternal autoantibody-related autism. Nanomedicine ;2019 (Jul 23):102067.

Recently, the causative agents of Maternal Autoantibody-Related (MAR) autism, pathological autoantibodies and their epitopic targets (e.g. lactate dehydrogenase B [LDH B] peptide), have been identified. Herein, we report on the development of Systems for Nanoparticle-based Autoantibody Reception and Entrapment (SNAREs), which we hypothesized could scavenge disease-propagating MAR autoantibodies from the maternal blood. To demonstrate this functionality, we synthesized 15nm dextran iron oxide nanoparticles surface-modified with citric acid, methoxy PEG(10kDa) amine, and LDH B peptide (33.8mug peptide/cm(2)). In vitro, we demonstrated significantly lower macrophage uptake for SNAREs compared to control NPs. The hallmark result of this study was the efficacy of the SNAREs to remove 90% of LDH B autoantibody from prenatal, patient-derived serum. Further, in vitro cytotoxicity testing and a maximal tolerated dose study in mice demonstrated the safety of the SNARE formulation. This work establishes the feasibility of SNAREs as the first-ever prophylactic against MAR autism.

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3. Bast N, Banaschewski T, Dziobek I, Brandeis D, Poustka L, Freitag CM. Pupil Dilation Progression Modulates Aberrant Social Cognition in Autism Spectrum Disorder. Autism Res ;2019 (Jul 25)

Progression of pupil dilation (PD) in response to visual stimuli may indicate distinct internal processes. No study has been performed on PD progression during a social cognition task. Here, we describe PD progression during the Movie for the Assessment of Social Cognition (MASC) test in n = 23 adolescents with Autism Spectrum Disorder (ASD) and n = 24 age, IQ and sex-matched neurotypical controls (NTC). The MASC consists of 43 video sequences depicting human social interactions, each followed by a multiple-choice question concerning characters’ mental states. PD progression data were extracted by eye tracking and controlled for fixation behavior. Segmenting PD progression during video sequences by principal component analysis, three sequential PD components were unveiled. In ASD compared with NTC, a distinct PD progression was observed with increased constriction amplitude, increased dilation latency, and increased dilation amplitude that correlated with PD progression components. These components predicted social cognition performance. The first and second PD components correlated positively with MASC behavioral performance in ASD but negatively in NTC. These PD components may be interpreted as indicators of sensory-perceptual processing and attention function. In ASD, aberrant sensory-perceptual processing and attention function could contribute to attenuated social cognition performance. This needs to be tested by additional studies combining the respective cognitive tests and the outlined PD progression analysis. Phasic activity of the locus coeruleus-norepinephrine system is discussed as putatively shared underlying mechanism. Autism Res2019. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY : In adolescents with autism, we found an altered pupil dilation during watching scenes of human interactions. Early pupil dilation correlated positively with the number of correct answers to questions about the shown human interactions. Our findings suggest that aberrant sensory processing and attention function may contribute to altered social cognition in autism.

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4. Bertschy K, Skorich DP, Haslam SA. Self-categorization and Autism : Exploring the Relationship Between Autistic Traits and Ingroup Favouritism in the Minimal Group Paradigm. J Autism Dev Disord ;2019 (Jul 25)

The Integrated self-categorization model of autism (ISCA) argues that a self-categorization dysfunction could be the link between some of the disparate features of ASD. To the extent that this is true, any social psychological phenomena arising from self-categorization should be impaired in autistic people. Based on this premise, we investigated whether ingroup favouritism within the minimal group paradigm is reduced to the extent that individuals possess autistic traits. Results indicated that participants with a high proportion of autistic traits showed less ingroup favouritism, and that this was due to a decreased tendency for self-categorization. By providing evidence of the disruption of self-categorization in ASD, these findings lend support to ISCA and raise important issues for existing accounts of the disorder.

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5. Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S. Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes. Int J Mol Sci ;2019 (Jul 24) ;20(15)

Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a MECP2 pathogenic variant in 95% of cases, from atypical girls, 40-73% carrying MECP2 variants, and rarely CDKL5 and FOXG1 alterations. A large fraction of atypical and RTT-like patients remain without genetic cause. Next Generation Sequencing (NGS) targeted to multigene panels/Whole Exome Sequencing (WES) in 137 girls suspected for RTT led to the identification of a de novo variant in STXBP1 gene in four atypical RTT and two RTT-like girls. De novo pathogenic variants-one in GABRB2 and, for first time, one in GABRG2-were disclosed in classic and atypical RTT patients. Interestingly, the GABRG2 variant occurred at low rate percentage in blood and buccal swabs, reinforcing the relevance of mosaicism in neurological disorders. We confirm the role of STXBP1 in atypical RTT/RTT-like patients if early psychomotor delay and epilepsy before 2 years of age are observed, indicating its inclusion in the RTT diagnostic panel. Lastly, we report pathogenic variants in Gamma-aminobutyric acid-A (GABAa) receptors as a cause of atypical/classic RTT phenotype, in accordance with the deregulation of GABAergic pathway observed in MECP2 defective in vitro and in vivo models.

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6. Erden S. Hypothermia Associated With Melatonin Ingestion in a Child With Autism. Clin Neuropharmacol ;2019 (Jul 24)

Autism spectrum disorder is a neurodevelopmental disorder characterized by social interaction and communication disorder and restrictive and repetitive behaviors. Sleep disorders are frequently observed in children with autism spectrum disorder. We present a case of hypothermia in an autistic child with a sleep disorder whose body temperature decreased to 34 degrees C after a single dose of melatonin. Hypothermia continued for 2 more days, but her nighttime sleeping problems decreased. This case is important because it demonstrates the possible risk of hypothermia with melatonin use in children with autism with a sleep disorder.

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7. Gladfelter A, Barron KL, Johnson E. Visual and verbal semantic productions in children with ASD, DLD, and typical language. J Commun Disord ;2019 (Jul 20) ;82:105921.

PURPOSE : Associations between visual and verbal input allow children to form, augment, and refine their semantic representations within their mental lexicons. However, children with autism spectrum disorder (ASD) and with developmental language disorder (DLD ; also known as specific language impairment) process visual and verbal information differently than their typically developing peers, which may impact how they incorporate visual and verbal features into their semantic representations. The purpose of this exploratory study was to investigate how children with ASD and DLD use visually and verbally presented input to produce semantic representations of newly learned words. METHOD : Semantic features produced by 36 school-aged children (12 with ASD, 12 with DLD, and 12 with typical language development) were extracted from previously collected novel word definitions and coded based on their initial presentation modality (either visual, verbal, or both in combination) during an extended novel word learning paradigm. These features were then analyzed to explore group differences in the use of visual and verbal input. RESULTS : The children with ASD and DLD produced significantly more visually-presented semantic features than their typical peers in their novel word definitions. There were no differences between groups in the proportion of semantic features presented verbally or via both modalities in combination. Also, the children increased their production of semantic features presented via both modalities combined across the sessions ; this same increase in production was not observed for the semantic features taught in either the visual or verbal modality alone. CONCLUSION : Children with ASD and DLD benefit from visually presented semantic information, either in isolation or combined with verbal input, during tasks of word learning. Also, the reinforcement of combined visual-verbal input appears to enhance semantic learning over time.

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8. Gray EE, Murphy JG, Liu Y, Trang I, Tabor GT, Lin L, Hoffman DA. Disruption of GpI mGluR-dependent Cav2.3 translation in a mouse model of Fragile X Syndrome. J Neurosci ;2019 (Jul 26)

Fragile X Syndrome (FXS) is an inherited intellectual impairment that results from the loss of fragile X mental retardation protein (FMRP), an mRNA binding protein that regulates mRNA translation at synapses. The absence of FMRP leads to neuronal and circuit-level hyperexcitability that is thought to arise from the aberrant expression and activity of voltage-gated ion channels, although the identification and characterization of these ion channels has been limited. Here, we show that FMRP binds the mRNA of the R-type voltage-gated calcium channel Cav2.3 in mouse brain synaptoneurosomes and represses Cav2.3 translation under basal conditions. Consequently, in hippocampal neurons from male and female FMRP knock-out (KO) mice, we find enhanced Cav2.3 protein expression by western blotting and abnormally large R-currents in whole-cell voltage-clamp recordings. In agreement with previous studies showing that FMRP couples group I metabotropic glutamate receptor (GpI mGluR) signaling to protein translation, we find that GpI mGluR stimulation results in increased Cav2.3 translation and R-current in hippocampal neurons which is disrupted in FMRP KO mice. Thus, FMRP serves as a key translational regulator of Cav2.3 expression under basal conditions and in response to GpI mGluR stimulation. Loss of regulated Cav2.3 expression could underlie the neuronal hyperactivity and aberrant calcium spiking in FMRP KO mice and contribute to FXS, potentially serving as a novel target for future therapeutic strategies.SIGNIFICANCE STATEMENTPatients with FXS exhibit signs of neuronal and circuit hyperexcitability including anxiety and hyperactive behavior, attention deficit disorder and seizures. FXS is caused by the loss of FMRP, an mRNA binding protein, and the neuronal hyperexcitability observed in the absence of FMRP likely results from its ability to regulate the expression and activity of voltage-gated ion channels. Here we find that FMRP serves as a key translational regulator of the voltage-gated calcium channel Cav2.3 under basal conditions and following activity. Cav2.3 impacts cellular excitability and calcium signaling, and the alterations in channel translation and expression observed in the absence of FMRP could contribute to the neuronal hyperactivity that underlies FXS.

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9. Jansen AG, Dieleman GC, Jansen PR, Verhulst FC, Posthuma D, Polderman TJC. Psychiatric Polygenic Risk Scores as Predictor for Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in a Clinical Child and Adolescent Sample. Behav Genet ;2019 (Jul 25)

Neurodevelopmental disorders such as attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are highly heritable and influenced by many single nucleotide polymorphisms (SNPs). SNPs can be used to calculate individual polygenic risk scores (PRS) for a disorder. We aim to explore the association between the PRS for ADHD, ASD and for Schizophrenia (SCZ), and ADHD and ASD diagnoses in a clinical child and adolescent population. Based on the most recent genome wide association studies of ADHD, ASD and SCZ, PRS of each disorder were calculated for individuals of a clinical child and adolescent target sample (N = 688) and for adult controls (N = 943). We tested with logistic regression analyses for an association with (1) a single diagnosis of ADHD (N = 280), (2) a single diagnosis of ASD (N = 295), and (3) combining the two diagnoses, thus subjects with either ASD, ADHD or both (N = 688). Our results showed a significant association of the ADHD PRS with ADHD status (OR 1.6, P = 1.39 x 10(-07)) and with the combined ADHD/ASD status (OR 1.36, P = 1.211 x 10(-05)), but not with ASD status (OR 1.14, P = 1). No associations for the ASD and SCZ PRS were observed. In sum, the PRS of ADHD is significantly associated with the combined ADHD/ASD status. Yet, this association is primarily driven by ADHD status, suggesting disorder specific genetic effects of the ADHD PRS.

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10. Lei J, Lecarie E, Jurayj J, Boland S, Sukhodolsky DG, Ventola P, Pelphrey KA, Jou RJ. Altered Neural Connectivity in Females, But Not Males with Autism : Preliminary Evidence for the Female Protective Effect from a Quality-Controlled Diffusion Tensor Imaging Study. Autism Res ;2019 (Jul 26)

Previous studies using diffusion tensor imaging (DTI) to investigate white matter (WM) structural connectivity have suggested widespread, although inconsistent WM alterations in autism spectrum disorder (ASD), such as greater reductions in fractional anisotropy (FA). However, findings may lack generalizability because : (a) most have focused solely on the ASD male brain phenotype, and not sex-differences in WM integrity ; (b) many lack stringent and transparent data quality control such as controlling for head motion in analysis. This study addressed both issues by using Tract-Based Spatial Statistics (TBSS) to separately compare WM differences in 81 ASD (56 male, 25 female ; 4-21 years old) and 39 typically developing (TD ; 23 males, 16 females ; 5-18 years old) children and young people, carefully group-matched on sex, age, cognitive abilities, and head motion. ASD males and females were also matched on autism symptom severity. Two independent-raters completed a multistep scan quality assurance to remove images that were significantly distorted by motion artifacts before analysis. ASD females exhibited significant widespread reductions in FA compared to TD females, suggesting altered WM integrity. In contrast, no significant localized or widespread WM differences were found between ASD and TD males. This study highlights the importance of data quality control in DTI, and outlines important sex-differences in WM alterations in ASD females. Future studies can explore the extent to which neural structural differences might underlie sex-differences in ASD behavioral phenotype, and guide clinical interventions to be tailored toward the unique needs of ASD females and males. Autism Res 2019, 00 : 1-12. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY : Previous Diffusion Tensor Imaging (DTI) studies have found atypical brain structural connectivity in males with autism, although findings are inconclusive in females with autism. To investigate potential sex-differences, we studied males and females with and without autism who showed a similar level of head movement during their brain scan. We found that females with autism had widespread atypical neural connectivity than females without autism, although not in males, highlighting sex-differences.

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11. Livingston LA, Shah P, Happe F. Compensatory strategies below the behavioural surface in autism : a qualitative study. Lancet Psychiatry ;2019 (Jul 23)

BACKGROUND : Little is known about the compensatory profile in autism ; that is, people with autism spectrum disorder who show few symptoms in their behavioural presentation, despite continuing to report autism-related cognitive difficulties or differences. Even less is known about the specific compensatory strategies that these individuals use to disguise autism at the behavioural surface, both in the clinic and everyday life. It is also currently unclear whether individuals without a formal autism diagnosis, but experiencing autistic-like difficulties, use similar compensatory strategies, potentially enabling them to sit below the diagnostic threshold. This study aimed to investigate social compensatory strategies, and their effect on diagnosis and clinical outcome, in adults with and without autism. METHODS : In this study, individuals aged 18 years or older who responded to a study advert that was distributed worldwide via social media and the UK National Autistic Society formed a convenience sample. Participants self-reported their use and experiences of compensatory strategies using an online platform. Novel analyses, including a qualitative thematic approach, were used to interpret their responses and gain insight into compensatory strategies in autism. FINDINGS : Between Oct 19, 2017, and Jan 2, 2018, 136 adults (58 had a clinical diagnosis of autism, 19 self-identified but were not formally diagnosed as autistic, and 59 were not diagnosed or self-identified, but nevertheless reported social difficulties) completed the online study questions. The findings suggested that there are multiple compensatory strategies with distinct characteristics, individual and environmental factors that modulate compensatory strategy use and success, positive (social relationships, independence, employment) and negative (poor mental health, late diagnosis) outcomes associated with compensatory strategy use, and that individuals without a diagnosis use compensatory strategies that are qualitatively similar to individuals with a diagnosis. INTERPRETATION : Increased awareness and measurement of compensatory strategy use in autism should guide future diagnostic guidelines, towards improved diagnostic accuracy and support for people with autism spectrum disorder whose cognitive difficulties are not immediately evident in observable behaviour. FUNDING : UK Medical Research Council and UK National Institute for Health Research.

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12. Massrali A, Brunel H, Hannon E, Wong C, Baron-Cohen S, Warrier V. Integrated genetic and methylomic analyses identify shared biology between autism and autistic traits. Mol Autism ;2019 ;10:31.

Previous studies have identified differences in DNA methylation in autistic individuals compared to neurotypical individuals. Yet, it is unclear if this extends to autistic traits-subclinical manifestation of autism features in the general population. Here, we investigate the association between DNA methylation at birth (cord blood), and scores on the Social and Communication Disorders Checklist (SCDC), a measure of autistic traits, in 701 8-year-olds, by conducting a methylome-wide association study (MWAS). We did not identify significant CpGs associated with SCDC. The most significant CpG site was cg14379490, on chromosome 9 (MWAS beta = - 1.78 +/- 0.35, p value = 5.34 x 10 (-7) ). Using methylation data for autism in peripheral tissues, we did not identify a significant concordance in effect direction of CpGs with p value < 10(-4) in the SCDC MWAS (binomial sign test, p value > 0.5). In contrast, using methylation data for autism from post-mortem brain tissues, we identify a significant concordance in effect direction of CpGs with a p value < 10(-4) in the SCDC MWAS (binomial sign test, p value = 0.004). Supporting this, we observe an enrichment for genes that are dysregulated in the post-mortem autism brain (one-sided Wilcoxon rank-sum test, p value = 6.22 x 10(-5)). Finally, integrating genome-wide association study (GWAS) data for autism (n = 46,350) with mQTL maps from cord-blood (n = 771), we demonstrate that mQTLs of CpGs associated with SCDC scores at p value thresholds of 0.01 and 0.005 are significantly shifted toward lower p values in the GWAS for autism (p < 5 x 10(-3)). We provide additional support for this using a GWAS of SCDC, and demonstrate a lack of enrichment in a GWAS of Alzheimer’s disease. Our results highlight the shared cross-tissue methylation architecture of autism and autistic traits, and demonstrate that mQTLs associated with differences in DNA methylation associated with childhood autistic traits are enriched for common genetic variants associated with autism and autistic traits.

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13. Mierau SB, Neumeyer AM. Metabolic interventions in Autism Spectrum Disorder. Neurobiol Dis ;2019 (Jul 24):104544.

Metabolic interventions including special diets and supplements are commonly used in Autism Spectrum Disorder (ASD). Yet little is known about how these interventions, typically initiated by caregivers, may affect metabolic function or the core symptoms of ASD. This review examines possible direct and indirect roles for metabolism in the core symptoms of ASD as well as evidence for metabolic dysfunction and nutritional deficiencies. We also discuss some of the most popular diets and supplements used in our patient population and suggest strategies for discussing the utility of these interventions with patients, families, and caregivers.

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14. Mirza R, Sharma B. A selective peroxisome proliferator-activated receptor-gamma agonist benefited propionic acid induced autism-like behavioral phenotypes in rats by attenuation of neuroinflammation and oxidative stress. Chem Biol Interact ;2019 (Jul 23) ;311:108758.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder in children. It is diagnosed by two main behavioral phenotypes i.e. social-communication impairments and repetitive behavior. ASD is complex disorder with unsolved etiology due to multiple genes involvement, epigenetic mechanism and environmental factors. The clinical and preclinical studies have been indicating the association of propionic acid with autism spectrum disorder. Numerous studies suggest the potential therapeutic effects of peroxisome proliferator-activated receptor-gamma (PPAR-gamma) in different brain disorders. This research evaluates the utility of selective agonist of PPAR-gamma, pioglitazone in postnatal propionic acid induced ASD related symptomatology in male Wistar rats. PPA (250mg/kg, p.o.) was administered to male offspring for three consecutive days from postnatal 21st day to 23rd day. PPA induced social impairment, repetitive behavior, hyperlocomotion, anxiety and low exploratory activity in rats. Also, postnatal propionic acid-treated rats showed higher levels of oxidative stress (increased in thiobarbituric acid reactive species and decreased in reduced glutathione) as well as inflammation (increased in interleukin-6, tumor necrosis factor-alpha and decreased in interleukin-10) in the cerebellum, brainstem and prefrontal cortex. The rats were treated daily with pioglitazone (10mg/kg and 20mg/kg, p.o.) from postnatal 24th day to end of the study. Treatment with pioglitazone, significantly attenuated the postnatal propionic acid-induced social impairment, repetitive behavior, hyperactivity, anxiety and low exploratory activity. Furthermore, pioglitazone also reduced the postnatal propionic acid-induced oxidative stress and neuroinflammation in aforementioned brain regions. Hence, pioglitazone improved the propionic acid-induced neurobehavioral and biochemical impairments in rats.

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15. Moloney N, Gulati G. Autism spectrum disorder and Irish prisoners. Ir J Psychol Med ;2019 (Jul 26):1-3.

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16. Parish-Morris J. Seeing the unseen realities of autism. Lancet Psychiatry ;2019 (Jul 23)

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17. Pollak RM, Murphy MM, Epstein MP, Zwick ME, Klaiman C, Saulnier CA, Mulle JG. Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome : results from the 3q29 registry. Mol Autism ;2019 ;10:30.

Background : The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described. Methods : We ascertained individuals with 3q29 deletion syndrome (3q29Del, "cases," n = 93, 58.1% male) and typically developing controls (n = 64, 51.6% male) through the 3q29 registry (https://3q29deletion.patientcrossroads.org). Self-report of neuropsychiatric illness was evaluated for 93 cases. Subsets of participants were evaluated with the Social Responsiveness Scale (SRS, n = 48 cases, 56 controls), Social Communication Questionnaire (n = 33 cases, 46 controls), Autism Spectrum Screening Questionnaire (n = 24 cases, 35 controls), and Achenbach Behavior Checklists (n = 48 cases, 57 controls). Results : 3q29Del cases report a higher prevalence of autism diagnoses versus the general population (29.0% vs. 1.47%, p < 2.2E- 16). Notably, 3q29 deletion confers a greater influence on risk for ASD in females (OR = 41.8, p = 4.78E- 05) than in males (OR = 24.6, p = 6.06E- 09) ; this is aligned with the reduced male:female bias from 4:1 in the general population to 2:1 in our study sample. Although 71% of cases do not report a diagnosis of ASD, there is evidence of significant social disability (3q29Del SRS T-score = 71.8, control SRS T-score = 45.9, p = 2.16E- 13). Cases also report increased frequency of generalized anxiety disorder compared to controls (28.0% vs. 6.2%, p = 0.001), which is mirrored by elevated mean scores on the Achenbach diagnostic and statistical manual-oriented sub-scales (p < 0.001). Finally, cases show a distinct constellation of ASD features on the SRS as compared to idiopathic ASD, with substantially elevated Restricted Interests and Repetitive Behaviors, but only mild impairment in Social Motivation. Conclusions : Our sample of 3q29Del is significantly enriched for ASD diagnosis, especially among females, and features of autism may be present even when an ASD diagnosis is not reported. Further, the constellation of ASD features in this population is distinct from idiopathic ASD, with substantially less impaired social motivation. Our study implies that ASD evaluation should be the standard of care for individuals with 3q29Del. From a research perspective, the distinct ASD subtype present in 3q29Del is an ideal entry point for expanding understanding of ASD.

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18. Richard AE, Hodges EK, Carlson MD. Differential Diagnosis of Autism Spectrum Disorder Versus Language Disorder in Children Ages 2 to 5 Years : Contributions of Parent-Reported Development and Behavior. Clin Pediatr (Phila) ;2019 (Jul 26):9922819865794.

Early diagnosis of autism spectrum disorder (ASD) has focused on differentiating children with ASD from neurotypical children. However, many children presenting with concern for ASD are ultimately diagnosed with language disorder (LD). This study aimed to identify differences in parent-rated development and behavior among children ages 2 to 5 years presenting with concern for ASD who were diagnosed with either ASD or LD. Children with ASD were rated as more socially withdrawn and more delayed in social development and self-help skills than those with LD. Parent-rated developmental delays were positively correlated with scores on an autism screening measure and with social withdrawal and pervasive developmental problems among children with ASD. Among those with LD, parent-rated social and self-help development were positively correlated with social withdrawal and attention problems. Thus, parent ratings of social withdrawal and development of social and self-help skills may facilitate differential diagnosis of ASD and LD in children ages 2 to 5 years.

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19. Ryu DS, Shinn JK, Kim BW, Moon BJ, Ha Y, Lee JK, Kim KN, Chin DK, Yoon SH. Prospective Observational Cohort Study of Health-Related Quality of Life : Marked Adult Sagittal Deformity (ASD) in Comparison with Mild to Moderate ASD. Spine (Phila Pa 1976) ;2019 (Jul 24)

MINI : This study is a retrospective analysis of prospective observational cohort. Participants with a marked ASD showed different features from those with a mild to moderate ASD. This study implies that anatomical factors, including the vertebrae, intervertebral discs, and paraspinal muscles, synergistically contribute to progression into marked deformity. STUDY DESIGN : Retrospective analysis of prospective observational cohort OBJECTIVE. : This study assessed the difference in health-related quality of life (HRQOL) between participants with a mild to moderate adult sagittal deformity (ASD) (sagittal vertical axis [SVA] 9.5 cm). We also evaluated predisposing factors for a marked deformity. SUMMARY OF BACKGROUND DATA : Sagittal imbalance is closely associated with HRQOL for the patient. However, how the effect changes depending on the degree of imbalance has not been fully evaluated. The understanding of the predisposing factor associated with marked deformity also lacks. METHODS : A total of 124 elderly persons with a stooping posture were enrolled. Questionnaires related to HRQOL were administered. Sagittal alignment parameters and pelvic parameters were measured with a whole spine X-ray. Lumbar spine magnetic resonance imaging was used to assess the presence of pathologic conditions and muscle quality and quantity. Multivariate logistic regression analysis was conducted to analyze potential risk factors. RESULTS : Marked ASD was associated with female sex, lower height and weight, and osteoporosis (p < 0.005). Back pain (assessed by a visual analogue scale) and the Oswestry Disability Index were significantly higher in the marked deformity group (p = 0.012, 0.002, respectively). Multivariate logistic regression analysis showed significant relationships between the following parameters and marked deformity : pre-existing compression fracture (OR = 7.793 ; 95% CI, 1.527-39.768), severe L5/S1 Pfirrmann disc degeneration grade (OR = 1.916 ; 95% CI, 1.086-3.382), and lower quantities of multifidus and psoas muscles (OR = 0.994, 0.997 ; 95% CI, 0.991-0.998, 0.994-0.999, respectively). CONCLUSIONS : Participants with a marked ASD showed different features from those with a mild to moderate ASD. This study also implies that anatomical factors, including the vertebrae, intervertebral discs, and paraspinal muscles, synergistically contribute to progression into marked deformity. LEVEL OF EVIDENCE : 3.

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20. Theoharides TC, Kavalioti M, Tsilioni I. Mast Cells, Stress, Fear and Autism Spectrum Disorder. Int J Mol Sci ;2019 (Jul 24) ;20(15)

Autism Spectrum Disorder (ASD) is a developmental condition characterized by impaired communication and obsessive behavior that affects 1 in 59 children. ASD is expected to affect 1 in about 40 children by 2020, but there is still no distinct pathogenesis or effective treatments. Prenatal stress has been associated with higher risk of developing ASD in the offspring. Moreover, children with ASD cannot handle anxiety and respond disproportionately even to otherwise benign triggers. Stress and environmental stimuli trigger the unique immune cells, mast cells, which could then trigger microglia leading to abnormal synaptic pruning and dysfunctional neuronal connectivity. This process could alter the "fear threshold" in the amygdala and lead to an exaggerated "fight-or-flight" reaction. The combination of corticotropin-releasing hormone (CRH), secreted under stress, together with environmental stimuli could be major contributors to the pathogenesis of ASD. Recognizing these associations and preventing stimulation of mast cells and/or microglia could greatly benefit ASD patients.

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21. Wolfe K, Pound S, McCammon MN, Chezan LC, Drasgow E. A Systematic Review of Interventions to Promote Varied Social-Communication Behavior in Individuals With Autism Spectrum Disorder. Behav Modif ;2019 (Jul 26):145445519859803.

Individuals with autism spectrum disorder (ASD) may engage in repetitive social-communication behaviors that can limit their skill acquisition, access to reinforcement, and access to less restrictive settings. Basic and applied research indicates that variability, or the extent to which responses are topographically different from one another, is influenced by antecedent and consequence interventions. Our purpose in this study is to systematically review the literature on interventions to increase variable social-communication behaviors in individuals with ASD. We identified 32 studies through a database search and screened them using the What Works Clearinghouse (WWC) Single-Case Design Standards. Eighteen studies containing 55 cases met WWC Design Standards. We coded the descriptive characteristics and strength of evidence based on visual analysis from each of these 18 studies and calculated effect sizes using Tau-U. Our results indicate that most cases (65%) provide strong evidence of a functional relation between the interventions and varied social-communication behaviors, and the median Tau-U was .82. We discuss the implications of our results for practice and for future research on interventions designed to increase variability with this population.

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22. Wormwood KL, Ngounou Wetie AG, Ryan JP, Darie CC, Woods AG. Mass Spectrometry for the Study of Autism and Neurodevelopmental Disorders. Adv Exp Med Biol ;2019 ;1140:477-499.

Mass spectrometry (MS) has been increasingly used to study central nervous system (CNS) disorders, including autism spectrum disorders (ASDs). The first studies of ASD using MS focused on the identification of external toxins, but current research is more directed at understanding endogenous protein changes that occur in ASD (ASD proteomics). This chapter focuses on how MS has been used to study ASDs, with particular focus on proteomic analysis. Other neurodevelopmental disorders have been investigated using this technique, including genetic syndromes associated with autism such as fragile X syndrome (FXS) and Smith-Lemli-Opitz Syndrome (SLOS).

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Toutes les informations concernant les sensibilisations du CRA aux tablettes numériques en cliquant sur l’image ci-dessous :


1-Formation à l’état des connaissances de l’autisme

Plus d’information sur la formation gratuite que dispense le CRA en cliquant sur l’image ci-dessous :

Formation à l'état des connaissances de l'autisme {JPEG}


4-Livret Autisme Rhône-Alpes® (LARA) - Message à l’attention des directeurs

Prenez connaissance du Livret Autisme Rhône-Alpes, projet de répertoire régional des structures médico-sociales. En cliquant sur l’image ci-dessous :

Cliquez sur l'image pour découvrir le Livret LARA