Pubmed du 12/12/19

jeudi 12 décembre 2019

1. Biomarker May Predict Cancer Versus Autism Risk in Pten Hamartoma Tumor Syndrome : Decreased levels of fumarate were more strongly associated with autism than cancer in persons with PTEN mutations. Am J Med Genet A. 2020 ; 182(1) : 7-8.

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2. Aguillon-Hernandez N, Mofid Y, Latinus M, Roche L, Bufo MR, Lemaire M, Malvy J, Martineau J, Wardak C, Bonnet-Brilhault F. The pupil : a window on social automatic processing in autism spectrum disorder children. J Child Psychol Psychiatry. 2019.

BACKGROUND : Faces are crucial social stimuli, eliciting automatic processing associated with increased physiological arousal in observers. The level of arousal can be indexed by pupil diameter (the ’Event-Related Pupil Dilation’, ERPD). However, many parameters could influence the arousal evoked by a face and its social saliency (e.g. virtual vs. real, neutral vs. emotional, static vs. dynamic). A few studies have shown an atypical ERPD in autism spectrum disorder (ASD) patients using several kinds of faces but no study has focused on identifying which parameter of the stimulus is the most interfering with face processing in ASD. METHODS : In order to disentangle the influence of these parameters, we propose an original paradigm including stimuli along an ecological social saliency gradient : from static objects to virtual faces to dynamic emotional faces. This strategy was applied to 186 children (78 ASD and 108 typically developing (TD) children) in two pupillometric studies (22 ASD and 47 TD children in the study 1 and 56 ASD and 61 TD children in the study 2). RESULTS : Strikingly, the ERPD in ASD children is insensitive to any of the parameters tested : the ERPD was similar for objects, static faces or dynamic faces. On the opposite, the ERPD in TD children is sensitive to all the parameters tested : the humanoid, biological, dynamic and emotional quality of the stimuli. Moreover, ERPD had a good discriminative power between ASD and TD children : ASD had a larger ERPD than TD in response to virtual faces, while TD had a larger ERPD than ASD for dynamic faces. CONCLUSIONS : This novel approach evidences an abnormal physiological adjustment to socially relevant stimuli in ASD.

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3. Ames JL, Windham GC, Lyall K, Pearl M, Kharrazi M, Yoshida CK, Van de Water J, Ashwood P, Croen LA. Neonatal Thyroid Stimulating Hormone and Subsequent Diagnosis of Autism Spectrum Disorders and Intellectual Disability. Autism Res. 2019.

Hypothyroid conditions in early life, if left untreated, are associated with adverse neurodevelopmental outcomes, including intellectual disability (ID). However, evidence addressing the role of neonatal thyroid hormone insufficiencies in the altered neurobiology underlying autism spectrum disorders (ASD), particularly among its subphenotypes, is limited. We conducted a population-based, case-control study among a sample of children born during 2000-2003 in Southern California. We examined neonatal thyroid-stimulating hormone (TSH) measured during routine newborn screening among children later diagnosed with ASD (n = 518) or ID (n = 145) and general population (GP) controls (n = 399). TSH was further analyzed in relation to ASD subgroups of intellectual ability and onset type (early-onset ASD vs. ASD with regression) ascertained by expert review of developmental services records. Odds ratios (ORs) of the differences in TSH between groups were obtained from multivariate logistic regression. We examined neonatal TSH as continuous (ln-transformed) and as quartiles. We found no association between continuous neonatal TSH levels and ASD (adj-OR : 1.00, 95% CI : 0.79-1.26) nor ID (adj-OR = 1.01, 95% CI : 0.73-1.40). Among ASD subphenotypes, we observed a suggestive inverse trend between ASD with regression and TSH, though the association only reached statistical significance in the highest TSH quartile (adj-OR : 0.50, 95% CI : 0.26-0.98). While there was little evidence that neonatal TSH is related to overall ASD risk, more work is needed to understand the influence of thyroid hormones on ASD subphenotypes. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Low levels of thyroid hormone at birth can negatively impact brain development. We studied whether newborn levels of thyroid stimulating hormone (TSH) were associated with autism spectrum disorder (ASD) and its subtypes in a sample of children born in California. Newborn TSH was not related to the overall risk of ASD or intellectual disability. However, the relationships of thyroid hormone levels at birth and specific subtypes of ASD, particularly ASD with developmental regression, may need more research.

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4. Arciuli J, Colombo L, Surian L. Lexical stress contrastivity in Italian children with autism spectrum disorders : an exploratory acoustic study. J Child Lang. 2019 : 1-11.

We investigated production of lexical stress in children with and without autism spectrum disorders (ASD), all monolingual Italian speakers. The mean age of the 16 autistic children was 5.73 years and the mean age of the 16 typically developing children was 4.65 years. Picture-naming targets were five trisyllabic words that began with a weak-strong pattern of lexical stress across the initial two syllables (WS : matita) and five trisyllabic words beginning with a strong-weak pattern (SW : gomito). Acoustic measures of the duration, fundamental frequency, and intensity of the first two vowels for correct word productions were used to calculate a normalised Pairwise Variability Index (PVI) for WS and SW words. Results of acoustic analyses indicated no statistically significant group differences in PVIs. Results should be interpreted in line with the exploratory nature of this study. We hope this study will encourage additional cross-linguistic studies of prosody in children’s speech production.

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5. Gollwitzer A, Martel C, McPartland JC, Bargh JA. Reply to Taylor et al. : Acknowledging the multidimensionality of autism when predicting social psychological skill. Proceedings of the National Academy of Sciences of the United States of America. 2019.

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6. Hafizi S, Tabatabaei D, Lai MC. Review of Clinical Studies Targeting Inflammatory Pathways for Individuals With Autism. Frontiers in psychiatry. 2019 ; 10 : 849.

Immune dysfunction and abnormal immune response may be associated with certain mechanisms underlying autism spectrum disorder (ASD). The early evidence for this link was based on the increased incidence of ASD in children with a history of maternal infection during pregnancy. Observational studies show increased prevalence of immune-related disorders-ranging from atopy, food allergy, viral infections, asthma, primary immunodeficiency, to autoimmune disorders-in individuals with ASD and their families. Evidence of neuroglial activation and focal brain inflammation in individuals with ASD implies that the central nervous system immunity may also be atypical in some individuals with ASD. Also, both peripheral and central inflammatory responses are suggested to be associated with ASD-related behavioral symptoms. Atypical immune responses may be evident in specific ASD subgroups, such as those with significant gastrointestinal symptoms. The present review aimed to evaluate current literature of potential interventions that target inflammatory pathways for individuals with ASD and to summarize whether these interventions were associated with improvement in autism symptoms and adaptation. We found that the current literature on the efficacy of anti-inflammatory interventions in ASD is still limited and large-scale randomized controlled trials are needed to provide robust evidence. We concluded that the role of immune-mediated mechanisms in the emergence of ASD or related challenges may be specific to subsets of individuals (e.g. those with concurrent immunological disorders, developmental regression, or high irritability). These subsets of individuals of ASD might be more likely to benefit from interventions that target immune-mediated mechanisms and with whom next-stage immune-mediated clinical trials could be conducted.

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7. Kent C, Cordier R, Joosten A, Wilkes-Gillan S, Bundy A. Can I join in ? Multiple case study investigation of play performance generalisation for children with autism spectrum disorder from dyad to triad. Australian occupational therapy journal. 2019.

INTRODUCTION : Children with autism spectrum disorder (ASD) have difficulties with play, social interaction with peers and generalisation of intervention outcomes. The Ultimate Guide to Play, Language and Friendship (PLF) has demonstrated effectiveness in improving play performance of children with ASD and their typically developing (TD) peers. The aim of this investigation was to examine the changes in play performance when an additional TD child is added to an existing dyad of a child with ASD and a TD playmate to inform future delivery and adaptations of the intervention. METHODS : Participants in this multiple case study design were five children with ASD and their TD peer who completed a dyad intervention as part of a randomised control trial investigation of the PLF and an additional TD peer who joined the play dyad. A trained occupational therapist delivered an adapted version of the PLF to the triad over four clinic sessions. An independent rater scored each child (N = 15) on The Test of Playfulness at pre- and post-triad intervention. Line graphs were used to examine case data and compare to dyad play performance and patterns of interaction. RESULTS : Four of the five children with ASD generalised their play performance from the dyad to the triad social environment. However, the triad intervention did not demonstrate improvements in play performance. The play performance scores for the children with ASD and their TD peers were variable and demonstrated changes in their play pattern from the dyad to the triad. CONCLUSION : This investigation delivered preliminary evidence of play performance generalisation from a dyad to a triad with TD peers for children with ASD. Careful consideration of characteristics of all playmates is recommended for delivering the intervention to support play performance of children with ASD.

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8. Marcotte J, Grandisson M, Piquemal C, Boucher A, Rheault ME, Milot E. Supporting Independence at Home of People with Autism Spectrum Disorder : Literature Review. Canadian journal of occupational therapy Revue canadienne d’ergotherapie. 2019 : 8417419890179.

BACKGROUND. : The integration of a life environment enabling people with autism spectrum disorder (ASD) to fully exercise their independence must be well prepared. PURPOSE. : Review and describe interventions intended to develop the independence at home of people with ASD. METHOD. : The PRISMA method was used to perform a systematic review based on 19 keywords, grouped under three concepts : (a) population age (adolescents and adults), (b) diagnosis (ASD), and (c) independence. FINDINGS. : Seven effective interventions were identified in the 20 selected articles : (a) video self-modeling, (b) video modeling, (c) behavioural interventions, (d) video prompting, (e) transition planning program, (f) training in the use of a cognitive aid, and (g) social skills group. IMPLICATIONS. : The results of this review will help guide practitioners in the implementation of interventions that foster the development of independence at home of people with ASD.

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9. Mehan S, Rahi S, Tiwari A, Kapoor T, Rajdev K, Sharma R, Khera H, Kosey S, Kukkar U, Dudi R. Adenylate cyclase activator forskolin alleviates intracerebroventricular propionic acid-induced mitochondrial dysfunction of autistic rats. Neural regeneration research. 2020 ; 15(6) : 1140-9.

Neuronal mitochondrial dysfunction increases inflammatory mediators and leads to free radical generation and anti-oxidant enzymatic alterations, which are major neuropathological hallmarks responsible for autism. Mitochondrial dysfunction in autism is associated with decreased ATP levels due to reduced levels of cyclic adenosine monophosphate. Rat models of autism were established by intracerebroventricular injection of propionic acid. These rat models had memory dysfunction, decreased muscle coordination and gait imbalance. Biochemical estimation of propionic acid-treated rats showed changes in enzyme activity in neuronal mitochondrial electron transport chain complexes and increases in pro-inflammatory cytokines, oxidative stress and lipid biomarkers. Oral administration of 10, 20 and 30 mg/kg adenylate cyclase activator forskolin for 15 days reversed these changes in a dose-dependent manner. These findings suggest that forskolin can alleviate neuronal mitochondrial dysfunction and improve neurological symptoms of rats with autism. This study was approved by the RITS/IAEC, SIRSA, HARYANA on March 3, 2014 (approval No. RITS/IAEC/2014/03/03).

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10. Morrison KE, DeBrabander KM, Jones DR, Faso DJ, Ackerman RA, Sasson NJ. Outcomes of real-world social interaction for autistic adults paired with autistic compared to typically developing partners. Autism. 2019 : 1362361319892701.

Differences in social communication and interaction styles between autistic and typically developing have been studied in isolation and not in the context of real-world social interaction. The current study addresses this "blind spot" by examining whether real-world social interaction quality for autistic adults differs when interacting with typically developing relative to autistic partners. Participants (67 autism spectrum disorder, 58 typically developing) were assigned to one of three dyadic partnerships (autism-autism : n = 22 ; typically developing-typically developing : n = 23 ; autism-typically developing : n = 25 ; 55 complete dyads, 15 partial dyads) in which they completed a 5-min unstructured conversation with an unfamiliar person and then assessed the quality of the interaction and their impressions of their partner. Although autistic adults were rated as more awkward, less attractive, and less socially warm than typically developing adults by both typically developing and autistic partners, only typically developing adults expressed greater interest in future interactions with typically developing relative to autistic partners. In contrast, autistic participants trended toward an interaction preference for other autistic adults and reported disclosing more about themselves to autistic compared to typically developing partners. These results suggest that social affiliation may increase for autistic adults when partnered with other autistic people, and support reframing social interaction difficulties in autism as a relational rather than an individual impairment.

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11. Paynter J, Luskin-Saxby S, Keen D, Fordyce K, Frost G, Imms C, Miller S, Sutherland R, Trembath D, Tucker M, Ecker U. Brief Report : Perceived Evidence and Use of Autism Intervention Strategies in Early Intervention Providers. J Autism Dev Disord. 2019.

Use of empirically unsupported practices is a challenge in the field of autism spectrum disorder (ASD). We explored whether attitudes and perceived evidence were linked to intended practice use in early intervention staff. Seventy-one participants completed ratings of the evidence base, current and future use of six ASD intervention practices, and reported attitudes to research and evidence-based practice. Participants reported greater use and rated the evidence base higher for the empirically supported practices. However, variability in accuracy of evidence base ratings was observed across individuals. Higher perceived evidence was linked to greater future use intentions for empirically supported and unsupported practices. The need for accurate information across practice types is highlighted. Self-report methodology limitations and future research directions are discussed.

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12. Prieto M, Folci A, Martin S. Post-translational modifications of the Fragile X Mental Retardation Protein in neuronal function and dysfunction. Mol Psychiatry. 2019.

The Fragile X Mental Retardation Protein (FMRP) is an RNA-binding protein essential to the regulation of local translation at synapses. In the mammalian brain, synapses are constantly formed and eliminated throughout development to achieve functional neuronal networks. At the molecular level, thousands of proteins cooperate to accomplish efficient neuronal communication. Therefore, synaptic protein levels and their functional interactions need to be tightly regulated. FMRP generally acts as a translational repressor of its mRNA targets. FMRP is the target of several post-translational modifications (PTMs) that dynamically regulate its function. Here we provide an overview of the PTMs controlling the FMRP function and discuss how their spatiotemporal interplay contributes to the physiological regulation of FMRP. Importantly, FMRP loss-of-function leads to Fragile X syndrome (FXS), a rare genetic developmental condition causing a range of neurological alterations including intellectual disability (ID), learning and memory impairments, autistic-like features and seizures. Here, we also explore the possibility that recently reported missense mutations in the FMR1 gene disrupt the PTM homoeostasis of FMRP, thus participating in the aetiology of FXS. This suggests that the pharmacological targeting of PTMs may be a promising strategy to develop innovative therapies for patients carrying such missense mutations.

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13. Sjaarda CP, Wood S, McNaughton AJM, Taylor S, Hudson ML, Liu X, Guerin A, Ayub M. Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism. Journal of human genetics. 2019.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with heterogeneity in presentation, genetic etiology, and clinical outcome. Although numerous ASD susceptibility genes have been described, they only account for a small fraction of the estimated heritability, supporting the need to identify more risk variants. This study reports the whole exome sequencing for 24 simplex families with sporadic cases of ASD. These families were selected following a rigorous family history study designed to exclude families with any history of neurodevelopmental or psychiatric disease. Fifteen rare, de novo variants, including fourteen missense variants and one splicing variant, in thirteen families were identified. We describe a splicing variant in XRCC6 which was predicted to destroy the 5’ splice site in intron 9 and introduce a premature stop codon. We observed intron 9 retention in XRCC6 transcripts and reduced XRCC6 expression in the proband. Reduced XRCC6 activity and function may be relevant to ASD etiology due to XRCC6’s role in nonhomologous DNA repair and interactions of the C-terminal SAP domain with DEAF1, a nuclear transcriptional regulator that is important during embryonic development.

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14. Sokolowski MB. Functional testing of ASD-associated genes. Proceedings of the National Academy of Sciences of the United States of America. 2019.

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15. Taylor EC, Livingston LA, Callan MJ, Shah P. Divergent contributions of autistic traits to social psychological knowledge. Proceedings of the National Academy of Sciences of the United States of America. 2019.

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16. Yamada T, Miura Y, Oi M, Akatsuka N, Tanaka K, Tsukidate N, Yamamoto T, Okuno H, Nakanishi M, Taniike M, Mohri I, Laugeson EA. Examining the Treatment Efficacy of PEERS in Japan : Improving Social Skills Among Adolescents with Autism Spectrum Disorder. J Autism Dev Disord. 2019.

This study examines the efficacy of the Japanese version of the Program for the Education and Enrichment of Relational Skills (PEERS), which focuses on improving social functioning through making friends and maintaining good relationships for adolescents with autism spectrum disorder (ASD) without intellectual disabilities. Originally developed in the United States, PEERS is one of the few evidence-based social skills training programs for youth with ASD. The present study shows that with linguistic and cultural modifications, PEERS is effective in improving social functioning for adolescents with ASD in Japan. Positive results were found specifically in the areas of socialization, communication, knowledge of social skills, autistic mannerisms, and behavioral and emotional problems. In addition, most treatment gains were maintained at a 3-month follow-up assessment. These findings suggest that the Japanese version of PEERS is beneficial across multiple socio-emotional and behavioral domains for adolescents with ASD.

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17. Yi H, Siu QKY, Ngan OMY, Chan DFY. Parents’ experiences of screening, diagnosis, and intervention for children with autism spectrum disorder. The American journal of orthopsychiatry. 2019.

This mixed-methods study aimed to explore the experiences of screening, assessment, diagnosis, and intervention for autism spectrum disorder (ASD) among 249 parents of children with ASD in Hong Kong. Participants completed a survey and responded to open-ended questions regarding their experiences and views of ASD service provision. The quantitative analysis focused on (a) assessing parents’ experiences of key milestones, including the time to access, professional support and consultation, referral and follow-up, and (b) examining the correlates of the milestone experiences. Qualitative themes focused on the contexts of parents’ difficulties and views of ASD service provision. A joint display presented the integration of converging the quantitative and qualitative data. There were significant delays from screening and diagnosis to intervention due to limited resources for ASD. Although the government surveillance system facilitated access to screening, a delay in the entry to intervention remained. Parents’ narratives of frustration and confusion with ASD services reflected a lack of a coherent system for diagnosis and family needs assessment. Quality service provision for ASD requires integrated efforts of early identification, referral, and psychoeducational family support. Unbalanced resources between screening and intervention in public pediatric care settings should be addressed to meet the unmet needs of children with ASD. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

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18. Zhang YX, Cummings JR. Supply of Certified Applied Behavior Analysts in the United States : Implications for Service Delivery for Children With Autism. Psychiatr Serv. 2019 : appips201900058.

OBJECTIVE : The rising prevalence of autism spectrum disorder (ASD) underscores the importance of access to evidence-based interventions such as applied behavior analysis (ABA). Anecdotal evidence suggests limitations in the supply of ABA providers, but data remain scarce. The authors provide the first known examination of the supply of certified ABA providers in the United States. METHODS : Using 2018 data from the Behavior Analyst Certification Board, the authors compared the per capita supply of certified ABA providers in each state with a benchmark established using the Board’s guidelines. Additionally, the authors examined state and regional variations in the supply of certified ABA providers. RESULTS : The per capita supply of certified ABA providers fell below the benchmark in 49 states and was higher in the Northeast than in other regions (p<0.001). CONCLUSIONS : New workforce policies are needed to increase the supply of certified ABA providers to meet the needs of youths with ASD.

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