Pubmed du 04/06/19

mardi 4 juin 2019

1. Camodeca A. Description of Criterion Validity of the Autism Spectrum Rating Scales 6-18 Parent Report : Initial Exploration in a Large Community Sample. Child Psychiatry Hum Dev ;2019 (May 31)

Research regarding psychometric properties of autism spectrum disorder questionnaires is lacking. This study explored the criterion validity of the ASRS 6-18 parent report (ASRS-6-18-P) in a large, well-characterized, real-world clinical sample of 422 children ([Formula : see text] autism [AUT] n = 139 ; non-autism [NOT] n = 283) evaluated with the Autism Diagnostic Observation Schedule-2, a gold-standard measure. Significant mean differences were observed for DSM-5, social, and unusual behaviors. Total, DSM-5, social, and unusual behaviors demonstrated significant correlations with ADOS-2 comparison scores (modules 1-3), but not with module 4 (raw) scores. DSM-5 and Unusual Behaviors demonstrated significant but poor AUCs (0.60). Findings with/without covariates (IQ/age) were overall similar. Sensitivity and specificity could not be optimized. The suggested cutpoint (T-score = 60) demonstrated unacceptably high false positive rates (> 76.33%). While findings suggest limited diagnostic utility of the ASRS-6-18-P, the sample’s complex psychiatric presentation and measurement error inherent in cutoff score application should be considered when generalizing results. Further research is recommended.

Lien vers le texte intégral (Open Access ou abonnement)

2. Cappuccio G, Attanasio S, Alagia M, Mutarelli M, Borzone R, Karali M, Genesio R, Mormile A, Nitsch L, Imperati F, Esposito A, Banfi S, Del Giudice E, Brunetti-Pierri N. Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder. Eur J Hum Genet ;2019 (May 31)

We identified a 14q21.2 microdeletion in a 16-year-old boy with autism spectrum disorder (ASD), IQ in the lower part of normal range but high-functioning memory skills. The deletion affects a gene desert, and the non-deleted gene closest to the microdeletion boundaries is LRFN5, which encodes a protein involved in synaptic plasticity and implicated in neuro-psychiatric disorders. LRFN5 expression was significantly decreased in the proband’s skin fibroblasts. The deleted region includes the pseudogene chr14.232.a, which is transcribed into a long non-coding RNA (lncLRFN5-10), whose levels were also significantly reduced in the proband’s fibroblasts compared to controls. Transfection of the patient’s fibroblasts with a plasmid expressing chr14.232.a significantly increased LRFN5 expression, while siRNA targeting chr14.232.a-derived lncLRFN5-10 reduced LRFN5 levels. In summary, we report on an individual with ASD carrying a microdeletion encompassing the pseudogene chr14.232.a encoding for lncLRFN5-10, which was found to affect the expression levels of the nearby, non-deleted LRFN5. This case illustrates the potential role of long non-coding RNAs in regulating expression of neighbouring genes with a functional role in ASD pathogenesis.

Lien vers le texte intégral (Open Access ou abonnement)

3. Carlone G, Trombetta A, Amoroso S, Poropat F, Barbi E, Cozzi G. Intramuscular Dexmedetomidine, a Feasible Option for Children With Autism Spectrum Disorders Needing Urgent Procedural Sedation. Pediatr Emerg Care ;2019 (Jun) ;35(6):e116-e117.

Lien vers le texte intégral (Open Access ou abonnement)

4. Chiodo L, Mottron L, Majerus S. Preservation of categorical perception for speech in autism with and without speech onset delay. Autism Res ;2019 (Jun 3)

Recent accounts of autistic perception, including Bayesian accounts, hypothesize a reduced influence of prior knowledge on perception across different domains in the autism spectrum (AS). The purpose of this study was to investigate the influence of prior linguistic knowledge, in the form of phonemic categorical knowledge, on speech perception in adults with AS condition. As phonemic categorical knowledge is shaped by language experience and abilities, we furthermore distinguished AS participants with (AS-SOD) or without a history of speech onset delay (AS-noSOD) ; the control group comprises typical individuals matched for age, nonverbal intelligence, and reading abilities. We also controlled for the influence of auditory-verbal short-term retention capacities by administering word list and nonword list repetition tasks. We did not observe any reduced influence of prior phonemic knowledge on the perception of speech stimuli nor did we observed any increased perceptual abilities for atypical variants of speech stimuli or nonspeech auditory stimuli, either between the two autistic groups or relative to the control group. Short-term memory abilities appeared to be superior in the AS-noSOD group relative to the AS-SOD and control groups, but this strength could be accounted for by their higher vocabulary knowledge. The preservation of categorical perception in verbal autistic adults observed in this study challenges models claiming a reduced influence of prior knowledge on perception across domains in the AS. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : A reduced influence of prior knowledge has been considered to characterize perceptual abilities in people with autism. In this article, we examine this claim by assessing nonlinguistic and linguistic auditory perception abilities in adults with autism, and by further distinguishing between autism with or without a history of delayed language development. We did not observe any reduced influence of prior language knowledge on the perception of speech stimuli nor did we observe any increased perceptual abilities for atypical variants of speech stimuli or nonspeech auditory stimuli, and this relative to a control group matched on age, nonverbal intellectual efficiency, and reading abilities. Our results challenge models claiming a reduced influence of prior knowledge on perception across domains in the AS.

Lien vers le texte intégral (Open Access ou abonnement)

5. De Meo-Monteil R, Nordahl CW, Amaral DG, Rogers SJ, Harootonian SK, Martin J, Rivera SM, Saron CD. Differential Altered Auditory Event-Related Potential Responses in Young Boys on the Autism Spectrum With and Without Disproportionate Megalencephaly. Autism Res ;2019 (Jun 3)

Autism spectrum disorder (ASD), characterized by impairments in social communication and repetitive behaviors, often includes altered responses to sensory inputs as part of its phenotype. The neurobiological basis for altered sensory processing is not well understood. The UC Davis Medical Investigation of Neurodevelopmental Disorders Institute Autism Phenome Project is a longitudinal, multidisciplinary study of young children with ASD and age-matched typically developing (TD) controls. Previous analyses of the magnetic resonance imaging data from this cohort have shown that approximately 15% of boys with ASD have disproportionate megalencephaly (DM) or brain size to height ratio, that is 1.5 standard deviations above the TD mean. Here, we investigated electrophysiological responses to auditory stimuli of increasing intensity (50-80 dB) in young toddlers (27-48 months old). Analyses included data from 36 age-matched boys, of which 24 were diagnosed with ASD (12 with and 12 without DM ; ASD-DM and ASD-N) and 12 TD controls. We found that the two ASD subgroups differed in their electrophysiological response patterns to sounds of increasing intensity. At early latencies (55-115 ms), ASD-N does not show a loudness-dependent response like TD and ASD-DM, but tends to group intensities by soft vs. loud sounds, suggesting differences in sensory sensitivity in this group. At later latencies (145-195 ms), only the ASD-DM group shows significantly higher amplitudes for loud sounds. Because no similar effects were found in ASD-N and TD groups, this may be related to their altered neuroanatomy. These results contribute to the effort to delineate ASD subgroups and further characterize physiological responses associated with observable phenotypes. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Approximately 15% of boys with ASD have much bigger brains when compared to individuals with typical development. By recording brain waves (electroencephalography) we compared how autistic children, with or without big brains, react to sounds compared to typically developing controls. We found that brain responses in the big-brained group are different from the two other groups, suggesting that they represent a specific autism subgroup.

Lien vers le texte intégral (Open Access ou abonnement)

6. Dean DD, Agarwal S, Muthuswamy S. Fragile X molecular investigation and genetic counseling of intellectual disability/developmental delay patients in an Indian scenario. Expert Rev Mol Diagn ;2019 (Jun 4):1-9.

Background : Fragile X Syndrome (FXS), the most common cause of inherited intellectual disability (ID), is caused by a CGG repeat expansion (full mutation (FM), >200 CGG) at the Fragile X Mental Retardation 1 (FMR1) gene. Early identification of FXS has prognostic significance for affected individuals due to early initiation of interventions. Genetic counseling and family screening can aid parents and at-risk asymptomatic carriers (premutation (PM), 55-200 CGG) in taking proper reproductive decisions. Methodology : The present study utilizes Triplet Primed-Polymerase Chain Reaction (TP-PCR) methodology for detecting the repeat expansion at FMR1 gene in 233 Indian intellectual disability/developmental delay (ID/DD) patients. Results : We have identified 18/233 (7.7%) FXS positive cases. Early diagnosis was made in 66.7% cases (<10 years). Extended family screening in 14 affected individuals identified 9 additional FM cases (7 males and 2 females) and 23 carrier PM females, which otherwise could have been missed. Four prenatal diagnoses were also performed, leading to the identification of 1 PM and 1 FM carrier fetus. Conclusion : A high frequency (7.7%) of FXS among Indian ID/DD subjects obtained in this study depicted the need for more professional recommendations concerning prompt referral for genetic testing, and increased exposure to information about FXS to pediatricians.

Lien vers le texte intégral (Open Access ou abonnement)

7. Kang E, Clarkson T, Keifer CM, Rosen TE, Lerner MD. Discrete Electrocortical Predictors of Anxiety and Anxiety-Related Treatment Response in Youth with Autism Spectrum Disorder. Biol Psychol ;2019 (May 31)

There are two established electroencephalogram (EEG) indices that putatively relate to anxiety symptoms : a) the error-related negativity (ERN), which reflects endogenous threat sensitivity, and b) resting-state EEG relative right frontal activity (rRFA), which relates to approach/withdrawal motivation. We examined these indices conjointly to better elucidate differential mechanisms underlying the common anxiety phenotype in youth with autism spectrum disorder (ASD), in relation to subjective reports of symptomatology and treatment response. EEG was recorded from 53 youth with ASD who participated in 10-week social skills intervention (SSI). More negative ERN related to higher self-reported social anxiety symptoms at baseline, and predicted improvements in self-reported social anxiety symptoms following SSI. Although rRFA did not relate to anxiety symptoms at baseline, more rRFA predicted improvement in parent-reported anxiety domains but worsening in self-reported anxiety symptoms. This study provides evidence for unique neural mechanisms of anxiety symptoms and changes in anxiety after SSI in youth ASD.

Lien vers le texte intégral (Open Access ou abonnement)

8. Kilburn TR, Juul Sorensen M, Thastum M, Rapee RM, Rask CU, Bech Arendt K, Thomsen PH. Group-based Cognitive Behavioural Therapy for Anxiety Disorder in Children with Autism Spectrum Disorder : a feasibility study. Nord J Psychiatry ;2019 (Jun 1):1-8.

Purpose : Autism spectrum disorder (ASD) includes core symptoms that affect general and social development. High risk of developing comorbid disorders such as anxiety is prominent. Up to 60% of children with ASD suffer from anxiety disorders which can negatively influence educational, social and general development together with quality of life. This study is the first to investigate the feasibility of the manualised cognitive behavioural therapy (CBT) group programme ’Cool Kids ASD’ for anxiety adapted for children with ASD in a general hospital setting. Methods : Nine children, aged 9-13 years, with ASD and anxiety recruited from a public child psychiatric health clinic were enrolled in the study. Outcome measures were collected from both child and parent pre- and post-treatment and at 3-month follow-up and included scores from a semi-structured anxiety interview, together with questionnaires on anxiety symptoms, life interference, children’s automatic thoughts and satisfaction with the programme. Results : Eight out of nine families found the programme useful and would recommend it to other families in a similar situation. Six families attended all 12 sessions in the programme, two missed one session and one family only managed to attend eight sessions. At follow-up, five children were free of all anxiety diagnoses and a further two out of the nine children no longer met the criteria for their primary anxiety diagnosis. Conclusions : This study suggests that the transition of the group programme ’Cool Kids ASD’ from University Clinics to standard child psychiatric clinical settings is feasible. Further randomised studies are needed to confirm the efficacy of the programme in a larger sample.

Lien vers le texte intégral (Open Access ou abonnement)

9. Masson J, Demily C, Chatron N, Labalme A, Rollat-Farnier PA, Schluth-Bolard C, Gilbert-Dussardier B, Giuliano F, Touraine R, Tordjman S, Verloes A, Testa G, Sanlaville D, Edery P, Lesca G, Rossi M. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder. Orphanet J Rare Dis ;2019 (May 31) ;14(1):121.

Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social disinhibition, often defined as "overfriendliness" and "hyersociability". WBS is generally considered as the polar opposite phenotype to Autism Spectrum Disorder (ASD). Surprisingly, the prevalence of ASD has been reported to be significantly higher in WBS (12%) than in general population (1%). Our study aims to investigate the molecular basis of the peculiar association of ASD and WBS. We performed chromosomal microarray analysis and whole exome sequencing in six patients presenting with WBS and ASD, in order to evaluate the possible presence of chromosomal or gene variants considered as pathogenic.Our study shows that the presence of ASD in the recruited WBS patients is due to i) neither atypically large deletions ; ii) nor the presence of pathogenic variants in genes localized in the non-deleted 7q11.23 allele which would unmask recessive conditions ; iii) moreover, we did not identify a second, indisputable independent genetic diagnosis, related to pathogenic Copy Number Variations or rare pathogenic exonic variants in known ID/ASD causing genes, although several variants of unknown significance were found. Finally, imprinting effect does not appear to be the only cause of autism in WBS patients, since the deletions occurred in alleles of both maternal and paternal origin.The social disinhibition observed in WBS does not follow common social norms and symptoms overlapping with ASD, such as restricted interests and repetitive behavior, can be observed in "typical" WBS patients : therefore, the terms "overfriendliness" and "hypersociability" appear to be a misleading oversimplification.The etiology of ASD in WBS is likely to be heterogeneous. Further studies on large series of patients are needed to clarify the observed variability in WBS social communication, ranging from excessive talkativeness and social disinhibition to absence of verbal language and social deficit.

Lien vers le texte intégral (Open Access ou abonnement)

10. Maynard DW, Turowetz J. Doing Abstraction : Autism, Diagnosis, and Social Theory. Sociol Theory ;2019 (Mar) ;37(1):89-116.

Recent decades have witnessed a dramatic upsurge in the prevalence of autism spectrum disorder (ASD). As researchers have investigated the responsible sociohistorical conditions, they have neglected how clinicians determine the diagnosis in local encounters in the first place. Articulating a position "between Foucault and Goffman," we ask how the interaction order of the clinic articulates with larger-scale historical forces affecting the definition and distribution of ASD. First, we show how the diagnostic process has a narrative structure. Second, case data from three decades show how narrative practices accommodate to different periods in the history of the disorder, including changing diagnostic nomenclatures. Third, we show how two different forms of abstraction-Type A, which is categorical, and Type B, which is concrete and particular-inhabit the diagnostic process. Our analysis contributes to the sociology of autism, the sociology of diagnosis, the sociology of abstraction, and social theory.

Lien vers le texte intégral (Open Access ou abonnement)

11. Neufeld J, Hsu CT, Chakrabarti B. Atypical Reward-Driven Modulation of Mimicry-Related Neural Activity in Autism. Front Psychiatry ;2019 ;10:327.

Autism spectrum disorder (ASD) is characterized by deficits in social functioning and difficulties in forming social bonds. According to the social motivation theory of ASD, people with ASD fail to attend social stimuli because they do not experience them as rewarding, resulting in deficits in social cognition. In neurotypical (NT) individuals, more rewarding faces have been shown to elicit greater spontaneous facial mimicry. This association between reward and mimicry is reduced in people with high autistic traits, suggesting that altered reward processing might explain the deficits in spontaneous facial mimicry observed in individuals with ASD. In a previous study, we observed that learned reward value of a face modulates mimicry-related neural response to it and that this modulation is reduced in people with high autistic traits. Using an identical evaluative conditioning paradigm where neutral faces were conditioned with high and low rewards, we tested the modulating effect of reward value on mimicry-related brain activity in a group of adults with and without ASD. We focused on the activity in a cluster within the inferior frontal gyrus (IFG) identified through an independent meta-analysis of 139 neuroimaging studies of mimicry, in response to passively viewing videos of the conditioned faces. The blood oxygen level dependent (BOLD) response contrast of high- vs. low-reward faces was reduced in participants with ASD compared to NT controls. The extent of reward-driven modulation was negatively correlated with autistic traits across the whole sample. Our results indicate that the mimicry-related brain response is less modulated by learned reward value in individuals with ASD when compared to NT controls. In previous studies, we found in a similar sample that being mimicked by faces was associated with less reward-related brain response in individuals ASD compared to an NT sample, suggesting that the link between reward and mimicry is affected in both directions in ASD. Together, this reduced bidirectional link between reward and mimicry can point to a potential mechanism underlying some of the social cognitive features of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

12. Park JH, Jang W, Youn J, Ki CS, Kim BJ, Kim HT, Louis ED, Cho JW. Prevalence of fragile X-associated tremor/ataxia syndrome : A survey of essential tremor patients with cerebellar signs or extrapyramidal signs. Brain Behav ;2019 (Jun 3):e01337.

OBJECTIVES : In screening studies of Western patients with cerebellar dysfunction, FMR1 premutations have been detected. A screening study of East Asian patients with presumed essential tremor (ET) did not detect these mutations, possibly because the ET patients did not closely mimic the phenotype of fragile X-associated tremor/ataxia syndrome (FXTAS). The aim of this study was to estimate the prevalence of FMR1 premutations in a carefully recruited group of ET patients with additional phenotypic features of FXTAS. MATERIALS AND METHODS : From April 2014 to April 2018, we prospectively recruited patients with ET diagnoses from three tertiary care centers. Demographic and clinical data were collected, as well as data on presence of cerebellar signs and extrapyramidal signs (EPS). Tremor, cerebellar signs, and EPS were evaluated using appropriate clinical rating scales. For ET patients with additional cerebellar signs or EPS, FMR1 mutation analysis and brain magnetic resonance imaging were performed. RESULTS : Six hundred and three ET patients were recruited. Cerebellar signs or EPS were present in 168 (27.9%) of 603. FMR1 CGG repeat analysis was performed in 74 of 168 patients. Fifty-two of 74 had cerebellar signs only, three had EPS only, and 19 had both neurologic abnormalities. Two patients had a FMR1 premutation and fulfiled both clinical and radiological criteria of FXTAS. CONCLUSIONS : Two (2.7%) of 74 patients with presumed ET and additional neurological features were discovered to have FXTAS. The possibility of FXTAS should be considered in patients with ET who exhibit mild cerebellar signs or EPS.

Lien vers le texte intégral (Open Access ou abonnement)

13. Pincus SM, Hausman NL, Borrero JC, Kahng S. Context influences preference for and level of physical activity of adolescents with intellectual and developmental disabilities. J Appl Behav Anal ;2019 (Jun 4)

The purpose of the current study was to replicate and extend Hustyi, Normand, Larson, and Morley (2012) by determining the effects of different contexts on physical activity displayed by adolescents with intellectual and developmental disabilities, and determining preference for various activities. Results indicated that an exergaming condition produced the highest levels of activity. Results of a preference assessment indicated that 2 out of 3 participants preferred the physical activity context to the sedentary. For the third participant, an intervention was included to increase activity. Although the intervention was successful, participant preference for the sedentary activity context remained unchanged.

Lien vers le texte intégral (Open Access ou abonnement)

14. Richling SM, Williams WL, Carr JE. The effects of different mastery criteria on the skill maintenance of children with developmental disabilities. J Appl Behav Anal ;2019 (Jun 3)

The acquisition of skills by individuals with developmental disabilities typically includes the attainment of a certain mastery criterion. We conducted a survey of practitioners who indicated the most commonly used mastery criterion as 80% accuracy across three consecutive sessions. Based on these results, we conducted a series of three experiments to evaluate the relation between mastery criterion and subsequent skill maintenance with 4 individuals with various developmental disabilities. Results suggest that 80% accuracy across three consecutive sessions may be insufficient for producing maintenance in some cases.

Lien vers le texte intégral (Open Access ou abonnement)

15. Ringland KE. "Autsome" : Fostering an Autistic Identity in an Online Minecraft Community for Youth with Autism. Inf Contemp Soc (2019) ;2019 (Apr) ;11420:132-143.

Autism is a medical diagnosis that has attracted much attention in recent decades, particularly due to an increase in the numbers of children being diagnosed and the changing requirements for getting the diagnosis. In parallel online communities around autism-both those supporting individuals, families seeking treatment and those supporting embracing the autism identity-have grown. Previous literature has shown the positive impact support groups can have for those encountering hardship in their lives, such as depression. In this qualitative study of an online community for autistic children centered around a virtual world, I explore how the label "autism" can be not only a source of disenfranchisement, leading to harassment and violence-in both the virtual and physical world-but also a source of empowerment and identity. I illuminate the tension in claiming the autistic identity within this community-having a sense of identity in the community, but, in doing so, also "othering" those with autism further. The walls of the community work to keep community members safe, but also set them apart from others on the internet. I see that the Autcraft community goes beyond being a support group for victims of targeted violence, to one that redefines and helps community members embrace their own autistic identities.

Lien vers le texte intégral (Open Access ou abonnement)

16. Rizzato A, D’Alessandro N, Berenci E, Rinchi A, Enten G, Vezzani G, Proietti M, Fiorito A, Camporesi E, Bosco G. Effect of mild hyperbaric oxygen therapy on children diagnosed with autism. Undersea Hyperb Med ;2018 (Nov-Dec) ;45(6):639-645.

Introduction : Hyperbaric oxygen (HBO2) therapy is emerging internationally as the primary treatment modality for inflammatory pathways related to neurological disorders. Currently, literature concerning its effectiveness in autistic children is limited. Using neurocognitive tests and clinical-diagnostic evaluations, this study evaluates the clinical, cognitive and behavioral effects of HBO2 on children diagnosed with autism. Methods : An experimental HBO2 group (EXP : F = 1 ; M = 7 ; mean age : 7 +/- 2.33 ; years) and a control non-HBO2 group of autistic children (CTRL : F = 2 ; M= 5 ; mean age : 6.6 +/- 2.7 years) correctly completed the Aberrant Behavior Checklist-Community (ABC) before HBO2 (T0), after 40 sessions of HBO2 (T1), and one month after the end of treatments (T2). Additionally, the experimental HBO2 group was evaluated with the Childhood Autism Rating Scale at T0 and T2. Results : Total ABC score was lower at T2 (mean +/- SD : 50.38 +/- 18.55 ; p 0.001) compared to scores obtained at T0 (mean +/- SD : 57.5 +/- 19.01). Similarly, in the control group the total ABC score differed statistically (p 0.05) between T0 (103.6 +/- 20.38) and (T2 : 59 +/- 25.25). Conclusion : Despite the improvements reported in both groups, our results do not support the utility of HBO2 in children diagnosed with autism..

Lien vers Pubmed

17. Strenn N, Hovey D, Jonsson L, Anckarsater H, Lundstrom S, Lichtenstein P, Ekman A. Associations between autistic-like traits and polymorphisms in NFKBIL1. Acta Neuropsychiatr ;2019 (Jun 4):1-10.

OBJECTIVE : The immune system has been suggested to be associated with neuropsychiatric disorders ; for example, elevated levels of cytokines and the inflammation-related transcription factor nuclear factor kappa-B (NF-kappaB) have been reported in individuals with autism spectrum disorder (ASD). The aim of this study was to investigate possible associations between autistic-like traits (ALTs) and single nucleotide polymorphisms (SNPs) in NFKB1 (encoding a subunit of the NF-kappaB protein complex) and NF-kappaB inhibitor-like protein 1 (NFKBIL1). METHODS : The study was conducted in a cohort from the general population : The Child and Adolescent Twin Study in Sweden (CATSS, n = 12 319, 9-12 years old). The subjects were assessed by the Autism-Tics, ADHD, and Other Comorbidities Inventory. Five SNPs within the two genes were genotyped (NFKBIL1 : rs2857605, rs2239707, rs2230365 and rs2071592 ; NFKB1 : rs4648022). RESULTS : We found significant associations for two SNPs in NFKBIL1 : rs2239707 showed a significant distribution of genotype frequencies in the case-control analysis both for all individuals combined and in boys only, and rs2230365 was significantly associated with the ALTs-module language impairment in boys only. Furthermore, we found nominal association in the case-control study for rs2230365, replicating earlier association between this SNP and ASD in an independent genome-wide association study. CONCLUSION : The shown associations between polymorphisms in NFKBIL1 and ALTs are supporting an influence of the immune system on neuropsychiatric symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

18. Varley D, Wright B, Cooper C, Marshall D, Biggs K, Ali S, Chater T, Coates E, Gilbody S, Gomez de la Cuesta G, Kingsley E, Le Couteur A, McKelvey A, Shephard N, Teare D. Investigating SOcial Competence and Isolation in children with Autism taking part in LEGO-based therapy clubs In School Environments (I-SOCIALISE) : study protocol. BMJ Open ;2019 (Jun 1) ;9(5):e030471.

INTRODUCTION : Social skills training interventions for children with autism spectrum disorder (ASD) typically focus on a skills deficit model rather than building on existing skills or encouraging the child to seek their own solutions. LEGO-based therapy is a child-oriented intervention to help improve social interactional skills and reduce isolation. The therapy is designed for school-age children with ASD and uses group-based play in a school setting to encourage peer relationships and social learning. Despite the reported potential benefits of LEGO-based therapy in a prior randomised controlled trial (RCT) and its adoption by many schools, the evidence to support its effectiveness on the social and emotional well-being of children with ASD is limited and includes no assessment of cost-effectiveness. METHODS AND ANALYSIS : This multicentre, pragmatic, cluster RCT will randomise 240 participants (aged 7-15 years) with a clinical diagnosis of ASD to receive usual care or LEGO-based therapy with usual care. Cluster randomisation will be conducted on a school level, randomising each school as opposed to each individual child within a school. All prospective participants will be screened for eligibility before assenting to the study (with parents giving informed consent on behalf of their child). All participants will be followed up at 20 and 52 weeks after randomisation to assess for social, emotional and behavioural changes. The primary outcome measure is the social skills subscale of the Social Skills Improvement System completed by a teacher or teaching assistant associated with participating children at the 20-week follow-up time point. ETHICS AND DISSEMINATION : Ethics approval has been obtained via the University of York Research Ethics Committee. The results of the trial will be submitted for publication in a peer-reviewed journal and will be disseminated to participating families, education practitioners and the third sector including voluntary and community organisations. TRIAL REGISTRATION NUMBER : ISRCTN64852382 ; Pre-results.

Lien vers le texte intégral (Open Access ou abonnement)

19. Whippey A, Bernstein LM, O’Rourke D, Reddy D. Enhanced perioperative management of children with autism : a pilot study. Can J Anaesth ;2019 (May 31)

PURPOSE : When children with autism spectrum disorder (ASD) are in hospital, difficulties with socialization, communication, and behaviour can be exacerbated. The purpose of this study was to establish feasibility of an enhanced perioperative care pathway. METHODS : Utilizing parental and provider feedback, a protocol including environment modification, anxiolysis plans, specialized order sets, and child life specialist (CLS) support was developed over a nine-month period. Autism severity scores (ASS), communication styles, triggers, and previous experiences were used to create individualized care plans in the preoperative clinic. Emotion and sedation scores in the same day surgery unit, at anesthesia induction, and in the postanesthesia care unit were recorded. Acceptance was obtained from nurses, anesthesiologists, and parents. Feasibility criteria included the recruitment rate, adherence to protocol, data collection, and patient follow-up. RESULTS : Eighteen patients were enrolled in this pilot study. All feasibility criteria including recruitment, adherence to study protocol (97%), and follow-up (94%) were met. Fifteen (83%) patients were nonverbal and minimally interactive (ASS = 3). Common triggers were loud noises (78%), crowds (78%), and bright lights (56%). After implementation of the protocol, 15 (83%) of the anesthetic inductions were described as excellent. Ten different premedication plans were used. Parents described the personalized plan, anxiolysis medication, and CLS support as advantageous. All (100%) nurses, anesthesiologists, and parents felt the program should continue. CONCLUSION : We showed that a multidisciplinary perioperative care plan for children with severe ASD was feasible and 100% accepted at our institution. The individual nature of anxiolysis plans was considered a strength of the protocol.

Lien vers le texte intégral (Open Access ou abonnement)


Accès direct au catalogue en ligne !

Vous pouvez accéder directement au catalogue en ligne du centre de documentation du CRA Rhône-Alpes en cliquant sur l’image ci-dessous :

Cliquez pour consulter le catalogue

Formations pour les Familles et les Proches

le détail des programmes de formation à l’attention des familles et des proches de personnes avec TSA est disponible en cliquant sur l’image ci-dessous.

Formation pour les Aidants Familiaux {JPEG}

Sensibilisation à l’usage des tablettes au CRA !

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