Pubmed du 13/04/20

lundi 13 avril 2020

1. Carlsson E, Asberg Johnels J, Gillberg C, Miniscalco C. Narrative Skills in Primary School Children with Autism in Relation to Language and Nonverbal Temporal Sequencing. Journal of psycholinguistic research. 2020.

Recent research has suggested that temporal sequencing of narrative events might be a domain-general ability that underlies oral narrative capacities. The current study investigated this issue in a group of children with known pragmatic and narrative difficulties, namely Autism Spectrum Disorder (ASD). We hypothesized (1) that children with ASD (n = 45) would retell narratives of poorer quality than both chronological age-matched (CAM) children and younger children matched on sentence-level language skills (LM), and (2) that nonverbal temporal sequencing skills would uniquely predict individual differences in oral narrative performance in children with ASD. The results show that children with ASD performed poorer on all measures of oral narrative quality compared with the CAM group, and on eight of ten measures compared with the LM group. Thus, our first hypothesis was confirmed, suggesting that narrative difficulties in ASD cannot be fully explained by impaired language. The second hypothesis was only partly confirmed : nonverbal temporal sequencing explained significant or marginally significant variance in some, but not all, aspects of oral narrative performance of children with ASD. These results are discussed from theoretical and clinical/educational perspectives, in relation to the heterogeneity of language skills in ASD and to domain-general features of narrative processing.

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2. Craig F, Crippa A, De Giacomo A, Ruggiero M, Rizzato V, Lorenzo A, Fanizza I, Margari L, Trabacca A. Differences in Developmental Functioning Profiles Between Male and Female Preschoolers Children With Autism Spectrum Disorder. Autism Res. 2020.

This study investigated differences in clinical symptoms and developmental functioning profiles as well as sex-specific correlations of clinical characteristics and communication abilities, motor skills, and maladaptive behaviors in male and female preschoolers with autism spectrum disorder (ASD). Fifty-two females (mean age 4.5 +/- 2.16 years old) and 62 males (mean age 4.2 +/- 1.17 years old) with ASD were enrolled and assessed by measures including the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Psychoeducational Profile-Third Edition (PEP-3). We found intellectual disability in 91.2% of the children. While preschoolers with ASD showed comparable severity of restricted and repetitive behaviors (P = 0.17), females with ASD were less severely affected than age and intelligence quotient-matched males with ASD in the ADOS-2 social affect domain (P value = 0.001) and calibrated severity scores (P = 0.002). Interestingly, sex-specific linear regressions revealed that fine motor skills were predictive of impaired social affect in males but not in females. Specifically, motor skills might be the core feature for sex differences in ASD. Although preliminary, this finding suggests the need for more sex-specific diagnostic and intervention strategies in order to improve early identification efforts and specific intervention targets. LAY SUMMARY : Little is known about differences in developmental and functional profiles in males and females with autism spectrum disorder (ASD). We found important similarities and differences in the core ASD symptoms between male and female preschoolers. In addition, fine motor skills seem to predict social affect impairment and ASD symptom severity in males with ASD.

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3. Del Valle Rubido M, Hollander E, McCracken JT, Shic F, Noeldeke J, Boak L, Khwaja O, Sadikhov S, Fontoura P, Umbricht D. Exploring Social Biomarkers in High-Functioning Adults with Autism and Asperger’s Versus Healthy Controls : A Cross-Sectional Analysis. J Autism Dev Disord. 2020.

Biomarkers for autism spectrum disorder (ASD) are lacking but would facilitate drug development for the core deficits of the disorder. We evaluated markers proposed for characterization of differences in social communication and interaction in adults with ASD versus healthy controls (HC) for utility as biomarkers. Data pooled from an observational study and baseline data from a placebo-controlled study were analyzed. Between-group differences were observed in eye-tracking tasks for activity monitoring, biomotion, human activity preference, composite score (p = 0.0001-0.037) and pupillometry (various tasks, p = 0.017-0.05). Impaired olfaction was more common in the ASD sample versus HC (p = 0.018). Our preliminary results suggest the potential use for stratification and response sub-analyses outcome-prediction of specific eye-tracking tasks, pupillometry and olfaction tests in ASD trials.

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4. Haem E, Doostfatemeh M, Firouzabadi N, Ghazanfari N, Karlsson MO. A longitudinal item response model for Aberrant Behavior Checklist (ABC) data from children with autism. Journal of pharmacokinetics and pharmacodynamics. 2020.

This manuscript aims to present the first item response theory (IRT) model within a pharmacometric framework to characterize the longitudinal changes of Aberrant Behavior Checklist (ABC) data in children with autism. Data were obtained from 120 patients, which included 20,880 observations of the 58 items for up to three months. Observed scores for each ABC item were modeled as a function of the subject’s disability. Longitudinal IRT models with five latent disability variables based on ABC subscales were used to describe the irritability, lethargy, stereotypic behavior, hyperactivity, and inappropriate speech over time. The IRT pharmacometric models could accurately describe the longitudinal changes of the patient’s disability while estimating different time-course of disability for the subscales. For all subscales, model-estimated disability was reduced following initiation of therapy, most markedly for hyperactivity. The developed framework provides a description of ABC longitudinal data that can be a suitable alternative to traditional ABC data collected in autism clinical trials. IRT is a powerful tool with the ability to capture the heterogeneous nature of ABC, which results in more accurate analysis in comparison to traditional approaches.

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5. Hilvert E, Hoover J, Sterling A, Schroeder S. Comparing Tense and Agreement Productivity in Boys With Fragile X Syndrome, Children With Developmental Language Disorder, and Children With Typical Development. Journal of speech, language, and hearing research : JSLHR. 2020 : 1-14.

Purpose This study compared and characterized the tense and agreement productivity of boys with fragile X syndrome (FXS), children with developmental language disorder (DLD), and children with typical development (TD) matched on mean length of utterance. Method Twenty-two boys with FXS (M age = 12.22 years), 19 children with DLD (M age = 4.81 years), and 20 children with TD (M age = 3.23 years) produced language samples that were coded for their productive use of five tense markers (i.e., third-person singular, past tense -ed, copula BE, auxiliary BE, and auxiliary DO) using the tense and agreement productivity score. Children also completed norm-referenced cognitive and linguistic assessments. Results Children with DLD generally used tense and agreement markers less productively than children with TD, particularly third-person singular and auxiliary BE. However, boys with FXS demonstrated a more complicated pattern of productivity, where they were similar to children with DLD and TD, depending on the tense marker examined. Results revealed that children with DLD and TD showed a specific developmental sequence of the individual tense markers that aligns with patterns documented by previous studies, whereas boys with FXS demonstrated a more even profile of productivity. Conclusions These findings help to further clarify areas of overlap and discrepancy in tense and agreement productivity among boys with FXS and children with DLD. Additional clinical implications of these results are discussed.

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6. Imamura A, Morimoto Y, Ono S, Kurotaki N, Kanegae S, Yamamoto N, Kinoshita H, Tsujita T, Okazaki Y, Ozawa H. Genetic and environmental factors of schizophrenia and autism spectrum disorder : insights from twin studies. J Neural Transm (Vienna). 2020.

Twin studies of psychiatric disorders such as schizophrenia and autism spectrum disorder have employed epidemiological approaches that determine heritability by comparing the concordance rate between monozygotic twins (MZs) and dizygotic twins. The basis for these studies is that MZs share 100% of their genetic information. Recently, biological studies based on molecular methods are now being increasingly applied to examine the differences between MZs discordance for psychiatric disorders to unravel their possible causes. Although recent advances in next-generation sequencing have increased the accuracy of this line of research, there has been greater emphasis placed on epigenetic changes versus DNA sequence changes as the probable cause of discordant psychiatric disorders in MZs. Since the epigenetic status differs in each tissue type, in addition to the DNA from the peripheral blood, studies using DNA from nerve cells induced from postmortem brains or induced pluripotent stem cells are being carried out. Although it was originally thought that epigenetic changes occurred as a result of environmental factors, and thus were not transmittable, it is now known that such changes might possibly be transmitted between generations. Therefore, the potential possible effects of intestinal flora inside the body are currently being investigated as a cause of discordance in MZs. As a result, twin studies of psychiatric disorders are greatly contributing to the elucidation of genetic and environmental factors in the etiology of psychiatric conditions.

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7. Ledbetter-Cho K, O’Reilly M, Watkins L, Lang R, Lim N, Davenport K, Murphy C. The Effects of a Teacher-Implemented Video-Enhanced Activity Schedule Intervention on the Mathematical Skills and Collateral Behaviors of Students with Autism. J Autism Dev Disord. 2020.

This study used a multiple probe design to evaluate the effects of a teacher-implemented video-schedule intervention on the mathematical skills and untargeted challenging behaviors of five elementary-school students with autism. Results indicated that the intervention was effective in improving participants’ academic performance, and a decrease in the level of challenging behaviors and stereotypy was observed for participants following the introduction of intervention. Additionally, academic gains generalized across academic problems and to a small group setting, suggesting that this technology-based intervention is an efficient use of instructional time. Future research targeting a variety of academic skills and examining intervention implementation by additional practitioners (e.g., teaching assistants) is warranted.

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8. Morris S, O’Reilly G, Byrne MK. Understanding Our Peers with Pablo : Exploring the Merit of an Autism Spectrum Disorder De-stigmatisation Programme Targeting Peers in Irish Early Education Mainstream Settings. J Autism Dev Disord. 2020.

The political drive for inclusion means there are increasing numbers of children with autism spectrum disorder (ASD) being educated alongside their neurotypical peers. Pervasive victimisation has prompted the development of peer interventions targeting stigma. This study evaluated the ’Understanding Our Peers with Pablo’ programme for effects on knowledge, attitudes and behavioural intentions of infant schoolchildren (N = 222) towards autistic peers. Classes were randomly assigned to an intervention or waitlist control condition. Change over time in knowledge of autism and attitudes and behavioural intentions towards familiar and unfamiliar peers was analysed using mixed analyses of variance. The intervention condition showed gains in knowledge and increased positive attitudes towards unfamiliar autistic peers (maintained over three-months). There were significant improvements in attitudes towards familiar autistic peers, and time-limited decreases in behavioural intentions across both conditions. Overall, results support the use of this programme in early-years education.

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9. Scheerer NE, Shafai F, Stevenson RA, Iarocci G. Affective Prosody Perception and the Relation to Social Competence in Autistic and Typically Developing Children. Journal of abnormal child psychology. 2020.

Individuals diagnosed with autism spectrum disorder (ASD) have difficulty perceiving and expressing emotions. Since prosodic changes in speech (i.e. changes in intonation, stress, rhythm, etc.) are crucial for extracting information about the emotional state of a speaker, an inability to perceive and interpret these prosodic changes may be related to impairments in social communication. This study used non-verbal emotional voice-clips to examine the ability of autistic and typically-developing children (7-13 years old) to extract affect from changes in prosody. This research also explored whether difficulty extracting affective intent from changes in prosody may be related to social competence. Autistic (n = 26) and typically-developing (n = 26) children accurately matched emotional voice-clips to emotion words, suggesting autistic children can accurately extract the affective meaning conveyed by changes in prosody. Autistic children were less accurate at matching the voice-clips to emotional faces, suggesting that autistic children may struggle to make use of prosodic information in a social context. Across both autistic and typically-developing children, prosody-face matching accuracy was found to predict overall social competence, as well as social inferencing abilities, suggesting that the inability to utilize affective information derived from a speaker’s voice may interfere with effective social communication.

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10. Wilson RB, Elashoff D, Gouelle A, Smith BA, Wilson AM, Dickinson A, Safari T, Hyde C, Jeste SS. Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD. Autism Res. 2020.

Motor impairments occur frequently in genetic syndromes highly penetrant for autism spectrum disorder (syndromic ASD) and in individuals with ASD without a genetic diagnosis (nonsyndromic ASD). In particular, abnormalities in gait in ASD have been linked to language delay, ASD severity, and likelihood of having a genetic disorder. Quantitative measures of motor function can improve our ability to evaluate motor differences in individuals with syndromic and nonsyndromic ASD with varying levels of intellectual disability and adaptive skills. To evaluate this methodology, we chose to use quantitative gait analysis to study duplication 15q syndrome (dup15q syndrome), a genetic disorder highly penetrant for motor delays, intellectual disability, and ASD. We evaluated quantitative gait variables in individuals with dup15q syndrome (n = 39) and nonsyndromic ASD (n = 21) and compared these data to a reference typically developing cohort. We found a gait pattern of slow pace, poor postural control, and large gait variability in dup15q syndrome. Our findings improve characterization of motor function in dup15q syndrome and nonsyndromic ASD. Quantitative gait analysis can be used as a translational method and can improve our identification of clinical endpoints to be used in treatment trials for these syndromes. LAY SUMMARY : Motor impairments, particularly abnormalities in walking, occur frequently in genetic syndromes highly penetrant for autism spectrum disorder (syndromic ASD). Here, using quantitative gait analysis, we find that individuals with duplication 15q syndrome have an atypical gait pattern that differentiates them from typically developing and nonsyndromic ASD individuals. Our findings improve motor characterization in dup15q syndrome and nonsyndromic ASD. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.

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